JANUARY 2014 | ISSUE 70 GENETICS SOCIETY NEWS
In this issue The Genetics Society News is edited by Manuela Marescotti and items for future • In remembrance of Professor Sanger issues can be sent to the editor, by email • Meetings to m.marescotti@brainwave-discovery. • Student and Travel Reports com. The Newsletter is published twice a year, with copy dates of 1st June and 26th November.
Cover image from the Genetics Society forthcoming Spring meeting Psychiatric Genetics: Pathways and Prospects. Featured on page 4. A WORD FROM THE EDITOR
A word from the editor
Welcome to issue 70. experience has been also added to this newsletter. Dear Readers, Moreover, the Genetics Society First of all I would like to thank has organized a new Science Tanya Whitfield for her availability Communication workshop, for advising me about this following the success of the one newsletter issue. As usual, our that took place in 2013. newsletter shows how much the Lastly, I am very pleased to Genetics Society encourages the include a piece about Frederick scientific research studies based Sanger that has been very on the use of genetics to shed light kindly written by Don Powell. on many biological mysteries, as An exquisite portrait of the well as the events celebrating the famous biochemist has been outcomes and the new goals in made, pointing out his enormous the field. In fact, this newsletter contribution to genetics in the includes reports from scientists at light of the historical times he different stages of their career that went through and the impact have benefitted of our Society’s of his family on his work. support, in order to fuel their Surprisingly, such a brilliant interest in genetics in the last few scientist has always shown a months. modest attitude. In that regard, he wrote in 1988 “Of the three In addition to that, reading this main activities involved in issue you can see that improving scientific research, thinking, scientists’ skills in communicating talking, and doing, I much prefer their research studies and results, the last and am probably best at is also among the aims of the it. I am all right at the thinking, Genetics Society. In fact, recently, but not much good at the talking.” an internship of a PhD student at “The Naked Scientist” science radio talk show broadcast live by the Read on and enjoy. BBC has also been supported by Best wishes, our Society. A report of this great Manuela Marescotti
I am very pleased to include a piece about Frederick Sanger that has been very kindly written by Don Powell. An exquisite portrait of the famous biochemist has been made, pointing out his enormous contribution to genetics in the light of the historical times he went through and the impact of his family on his work.
2 . GENETICS SOCIETY NEWS . ISSUE 70 Issue 70 . January 2014
For more details please contact: Genetics Society c/o Portland Customer Services Charles Darwin House, 12 Roger Street, London, WC1N 2JU CONTENTS
Switchboard: +44 (0)1206 796 351 Fax: +44 (0)1206 798 650 Email: [email protected] Web: www.genetics.org.uk Meeting Announcements 4 - 8 The Genetics Society Journals 2014 Spring Meeting Heredity 2014 Communicating Your Science: www.nature.com/hdy Managing Editor: Professor Michael Bruford A Genetics Society Workshop Heredity Editorial Office, Cardiff University, Cathays Park, 2014 Autumn Meeting Cardiff, CF10 3AX External Meetings Diary Genes and Development www.genesdev.org Sectional Interest Groups 9 Editor: T. Grodzicker, Genes & Development, Cold Spring Harbor Laboratory Press, 500 Sunnyside Boulevard, Genetics Society Business 10 - 15 Woodbury, New York, 11797, USA Obituary 16 - 18 President Prof Enrico Coen, John Innes Centre, Norwich Genetics Society Meeting Report 20 - 21
Vice-Presidents From Genes to Shape Prof Chris Smith, University of Cambridge Prof Rebecca Oakey, King’s College London Genetics Society Sponsored Events 22 - 26 Prof Elizabeth Fisher, University College London 19th European Meeting of PhD students in
Honorary Secretary Evolutionary Biology Dr Tanya Whitfield, University of Sheffield UK Genome Science Meeting Honorary Treasurer 1st UK Workshop on Drosophila Developmental Prof Hiro Ohkura, University of Edinburgh Cell Biology Scientific Meetings Secretary Features 29 - 33 Prof Dirk-Jan de Koning, Swedish University of Agricultural Sciences, Uppsala Blue Skies and Bench Space: Adventures in Cancer Research Newsletter Editor Dr Manuela Marescotti, The Brainwave-Discovery Ltd., Interview with Mark Henderson, JBS Haldane Edinburgh prize lecture 2013 Postgraduate Representative Kay Boulton, University of Edinburgh Travel Reports 35 - 40 Epigenomics as a Discovery Tool in Current Ordinary Committee Members Biology Dr Ian Henderson, University of Cambridge Dr Matthew Hurles, The Wellcome Trust Sanger Institute The American Society of Human Genetics 63rd Mrs Dominique Kleyn, BioIndustry Association Annual Meeting Dr Malcom Logan, National Institute for Medical Research, London Prof Judith Mank, University College London 23rd European Drosophila Researchers’ Dr Jonathan Pettitt, University of Aberdeen Conference Prof Jane Rogers, The Genome Analysis Centre, Norwich Meiosis meeting 2013 Prof Jon Slate, University of Sheffield Dr Martin Taylor, University of Edinburgh Conference on Transposition and Genome Dr Colum Walsh, University of Ulster Engineering Prof John Whittaker, GlaxoSmithKline, Harlow Dr Eleftheria Zeggini, Wellcome Trust Genome Campus, Cambridge Heredity Fieldwork Grant Report 41 - 42 Design and Print Populations of Alyssum serpyllifolium Advocate Art 01372 274068 Training Grants 43 - 44 www.advocate-art.com An experience in communicating science Studentship Reports 45 - 57 Advertising in Genetics Society News represents an opportunity to reach Protein-protein interactions a large community of professional Arabidopsis thaliana geneticists. For rates please email Drosophila pseudoobscura [email protected] Suppressor screen in C. elegans DNA repair in Pseudomonas Plant host preference Collagen IV mutations
www.genetics.org.uk . 3 2014 Spring Meeting Psychiatric Genetics: Pathways and Prospects
Friday 4 April 2014. The Royal Society, London
Mental illness represents a major problem for affected Speakers individuals, for their loved ones, and for society at large. Many Professor Michael Owen, Cardiff University mental disorders have a substantial genetic component, but Professor Cathryn Lewis, King’s College London until recently very little consistent data existed regarding the Professor J. David Sweatt, University of Alabama underpinnings of these complex and multifactorial conditions. Professor Marcus Munafo, University of Bristol Professor Ricardo Dolmetsch, Stanford University As more and more robust genetic risk variants are identified, we Professor Henrik Walter, Charité Universitätsmedizin Berlin are now beginning to understand the physiological mechanisms Dr Susan Kelly, University of Exeter that go awry in psychiatric disorders, and therefore how we Professor Hank Greely, Stanford University might treat them more effectively. Now is an opportune time to reflect on recent successes within the field of psychiatric Scientific Organisers genetics, to delineate ways to move forward, and to consider the Dr William Davies, Dr Ian Jones and impact of the discipline across many diverse sectors of society. Dr Jamie Lewis
for registration, visit www.genetics.org.uk A Genetics Society Workshop Communicating Your Science A Genetics Society Workshop for PhD students and postdocs
April 23rd – 25th 2014, Chicheley Hall, Chicheley Road, Newport Pagnell, Chicheley
An important part of science is getting your results and Tutors and Speakers include ideas across to others, through papers, presentations, Enrico Coen (author and Professor of Genetics at the John Innes theses, grant proposals, conversations and interviews. Centre, Norwich) Your audience may include specialists in the field, those Nicola McCarthy (Chief Editor of Nature Reviews Cancer) from other disciplines, industry, or the general public. Mark Miodownik (author, broadcaster and Professor of Materials & Society, UCL) How can you best communicate your science? Tim Radford (freelance journalist and former science editor at This workshop brings together experts in different The Guardian) fields - writers, broadcasters, publishers, industrialists, Chris Smith (broadcaster, medical doctor, lecturer in Virology, computer scientists, and presenters - to help you Cambridge University) explore and develop your communication skills. Working together with others on the course you will learn how to structure presentations, develop writing Organisers skills, bridge disciplines and have hands-on experience Enrico Coen, Dominique Kleyn, Jonathan Pettitt, of broadcasting. Jon Slate and Chris Smith
The Genetics Society will cover costs of travel, accommodation and meals for successful applicants.
The course is open to PhD students and postdoctoral researchers working in genetics and related areas
The deadline for applications is 3rd March 2014. You can apply online at: www.genetics.org.uk/Events.aspx 2014 Autumn Meeting Genetic Approaches to Study the Neurobiology of Learning and Memory
Thursday 27 – Friday 28 November 2014. The Royal Society, London
This meeting proposes to bring Speakers Danielle Posthuma, University of Amsterdam together leading researchers David Bannerman, University of Oxford from across the globe that use Hiromu Tanimoto, Max Planck Institute für Neurobiologie Ilana Witten, Princeton University genetic approaches to investigate Isabelle Mansuy, Brain Research Institute Kazu Nakazawa, National Institutes of Health the neurobiology of learning and Nao Uchida, Harvard University memory. Systems of study span Sheena Josselyn, Sick Kids Toronto humans, rodents and insects. Thomas Preat, ESPCI Paris Scientific Organisers Scott Waddell, University of Oxford Matt Jones, University of Bristol
for registration, visit www.genetics.org.uk 7 EXTERNAL MEETINGS DIARY
We will happily include any announcements for genetics-based meetings in this section. Please send any items to the editor.
Mouse Models of Disease: Using pathology Chromatin: From nucleosomes to chromosomes techniques to enhance phenotyping outcomes 30 April – 2 May 2014, Cambridge, UK 5 – 7 February 2014, Wellcome Trust Genome Campus, https://registration.hinxton.wellcome.ac.uk/display_ Hinxton, Cambridge, UK info.asp?id=384 https://registration.hinxton.wellcome.ac.uk/display_ info.asp?id=352 Genomic Epidemiology of Malaria 2014 8 – 11 June 2014, Cambridge, UK Experiences and challenges of setting up biobanks https://registration.hinxton.wellcome.ac.uk/display_ and biobanking networks info.asp?id=387 17 February 2014, Cineworld: The O2, London www.regonline.co.uk/biobanking2014 Evolutionary Biology of Caenorhabditis and other Nematodes Biobanking sample and data management: 14 – 17 June 2014, Cambridge, UK Automation and best practice https://registration.hinxton.wellcome.ac.uk/display_ 18 February 2014, Cineworld: The O2, London info.asp?id=390 www.regonline.co.uk/bankauto2014 Society for Experimental Biology Annual Meeting The Immunology of Ageing 2014 24 February 2014, Cineworld, The O2, London 1 – 4 July 2014, University of Manchester, UK www.regonline.co.uk/AgeingImm2014 The Leena Peltonen School of Human Genomics Genomic Disorders 2012: The Genomics of Rare 17 – 21 August 2014, Cambridge, UK Diseases https://registration.hinxton.wellcome.ac.uk/display_ 5 – 7 March 2014, University Arms Hotel, Cambridge, UK info.asp?id=414 https://registration.hinxton.wellcome.ac.uk/display_ info.asp?id=405 FEBS EMBO 2014 Conference 30 August – 4 September 2014, Palais des congrès de Paris Evolutionary Genetics & Genomics Symposium - France (EGGS) 18 March 2014, Cambridge, UK Total Transcription 2014 www.evolutionarygenetics.group.cam.ac.uk/eggs/ 1 – 5 September 2014, Cambridge, UK https://registration.hinxton.wellcome.ac.uk/display_ Alzheimer’s Disease in Down Syndrome: from info.asp?id=396 Molecules to Cognition 27 – 29 March 2014, Cambridge, UK Genome Informatics 2014 https://registration.hinxton.wellcome.ac.uk/display_ 21 – 24 September 2014, Churchill College, Cambridge, UK info.asp?id=378 https://registration.hinxton.wellcome.ac.uk/display_ info.asp British Yeast Group Meeting 2014 7 – 9 April 2014, Xfi building, University of Exeter Epigenomics of Common Diseases 28 – 31 October 2014 Exploring Human Host-Microbiome Interactions in Health and Disease 14 – 16 April 2014, Cambridge, UK https://registration.hinxton.wellcome.ac.uk/display_ info.asp?id=409
www.genetics.org.uk . 7 EXTERNAL MEETINGS DIARY 8
Society of Biology Life Sciences Careers Conferences 2013
The Life Sciences Careers Conferences are aimed primarily at undergraduate students and are designed to provide them with advice and information on the various life sciences career options available to them. Previous exhibitors have included employers, recruiters and learned societies. We are expecting around 250-300 delegates at each event.
University of South Wales Wednesday 23rd October 2013 London Metropolitan University Wednesday 13th November 2013 Newcastle University Wednesday 20th November 2013
Twitter: Register for @Society_Biology Life Sciences Careers Conferences in South Wales, London and Newcastle http://ow.ly/p71rf #LifeSciCareers
Facebook/ Google+ Registration is open for the Society of Biology Life Science Careers Conferences in South Wales, London and Newcastle www. societyofbiology.org/lscc
There is still time to get involved with the event. We have a range of sponsorship and exhibitor packages available and not-for- profit organisations receive a 50% discount.
8 . GENETICS SOCIETY NEWS . ISSUE 70 9 SECTIONAL INTEREST GROUPS
The Genetics Society helps support several sectional interest groups by providing meeting sponsorship. We currently have 11 groups who organise sectional interest meetings with the organisers and dates of any forthcoming meetings are listed below. If you are interested in any of these areas, please contact the relevant organiser. Groups who wish to be considered for sectional interest group status should see the Society website for further details.
Arabidopsis London Fly meetings Organiser: Ruth Bastow Organisers: Manolis Fanto and Nic Tapon ([email protected]) ([email protected]) and www.garnetcommunity.org.uk ([email protected])
Archaea group Mammalian Genetics & Development Organiser: Thorsten Allers Organisers: Elizabeth M. Fisher and Nick Greene ([email protected]) ([email protected])
British Yeast Group Mammalian Genes, Development and Disease Organiser: Alastair Goldman Organisers: Rosalind M John and David Tosh ([email protected]) ([email protected])
C. elegans POP group Organiser: Stephen Nurrish Organiser: Dr Barbara Mable ([email protected]) ([email protected])
Drosophila The Zebrafish Forum Organiser: David Ish-Horowicz Organiser: Rachel Ashworth ([email protected]), ([email protected]) Caroline Brennan ([email protected]), Monthly meetings are organised by: Corinne Houart ([email protected]). Joe Bateman ([email protected]) There are meetings at 5:30pm-8.00pm on the first Thursday of every other month. Room G12, New Ecological Genetics Group Hunt’s House, King’s College - London SE1 1UL Organiser: Paul Ashton ([email protected])
Genetics Society Pombe Club Organiser: Jacky Hayles ([email protected])
www.genetics.org.uk . 9 GENETICS SOCIETY BUSINESS 10
Honorary Secretary’s Notices Tanya Whitfield . Honorary Secretary, University of Sheffield
The Genetics Society Annual General Meeting
he 2014 Annual General Provisional Agenda TMeeting (AGM) of the Genetics 1. Minutes of previous Annual General Meeting Society will take place on Friday, (Friday 19th April 2013); matters arising 4th April 2014, in the context of 2. President’s Report the Society’s Spring Meeting on 3. Honorary Treasurer’s Report “Psychiatric Genetics” at the Royal 4. Honorary Secretary’s Report and Business for Transaction Society, London. a. Mendel Medal 2015 The business includes the election b. Genetics Society Medal 2015 of new members to the Society, and c. Mary Lyon Medal 2015 of new members to the Society’s d. Balfour Lecture 2015 Committee and Executive sub- e. JBS Haldane Lecture 2015 Committee. f. Applications for new membership g. Election of new Executive sub-Committee officers: Nominations for Committee and President (from 2015, with a shadowing year from 2014) Executive sub-Committee vacancies Meetings Secretary (from 2015, with a shadowing year from 2014) for 2014 are now closed. Nominees h. Election of new Ordinary Committee members: will be publicised in advance of the Area ‘E’ (Evolutionary, ecological and population genetics) AGM by emails to members, and Area ‘F’ (Corporate genetics and biotechnology) online www.genetics.org.uk. 5. Any other business
Important Note The 2014 AGM will allow advance voting on the Society’s website for those unable to attend in person. Members will be notified by email of the motions to be voted on in this way, and of the mechanisms for online voting. To ensure your involvement in the AGM by this mechanism, please check that the Society has your correct email address. Minutes of the April 2013 AGM can be found on the Society’s website. Current Committee members are listed in this Newsletter and can also be found on the Society’s website.
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Upcoming Life Membership in committee the Genetics Society vacancies ave you reached the age of remain eligible to vote in the Society Hretirement (65), but wish to AGM, but will not be required to pay Five Committee posts will be continue with your involvement further subscriptions. Recipients of falling vacant as of 1st May 2015: in the Society? If so, and you are the Genetics Society Medal will also an ordinary member who has be offered Life Membership. Should discharged any arrears that might you require additional information 1. Vice President be due to the Society, then you might about becoming a Life Member, Public Understanding consider applying to become a Life please contact The Genetics Society of Genetics Member of the Society. Life members Office ([email protected]). will continue to receive notices and 2. Ordinary Committee member, Area ‘A’ Gene structure, function and regulation Genetics Society Medal 3. Ordinary Committee member, Area ‘B’ The Genetics Society Medal is an a profile of Jonathan’s career. Genomics award that recognises outstanding Jonathan will present his lecture research contributions to genetics. at the Genetics Society Spring 4. Ordinary Committee The Medal recipient, who should Meeting, April 4th 2014, at the member, Area ‘C’ still be active in research at the Royal Society. The winner of the Cell and developmental genetics time the Medal is awarded, will be 2015 Genetics Society Medal will elected annually by the Committee be announced at the AGM. 5. Ordinary Committee on the basis of nominations made member, Area ‘D’ by any individual member of the Call for Nominations Applied and quantitative genetics Society. Those making nominations Nominations are now being invited must be members of the Genetics for the 2016 Genetics Society The nomination deadline for Society, but there is no requirement Medal. To make a nomination, these posts is Friday 28th for the nominee to be a member, nor please confirm that your candidate November 2014. All members any restriction on nationality or is willing to be nominated, and in good standing are welcome residence. Neither current members then forward a two-page CV of to nominate individuals for of the Committee nor those who the candidate, together with a list these upcoming vacancies have retired from office in the past of his or her ten most important from members of the Society. four years may be nominated for the publications, plus a one-page letter of Nominations should be sent to award. The recipient will be invited to recommendation outlining why you the Honorary Secretary, Tanya deliver a lecture at a Genetics Society feel their contributions to the field Whitfield (t.whitfield@sheffield. meeting, where the medal will be have been outstanding. Please submit ac.uk), and must be made with awarded. these supporting documents via the nominee’s consent. The 2014 Genetics Society Medal email to the Honorary Secretary of is awarded to Professor Jonathan the Genetics Society, Tanya Whitfield Flint (The Wellcome Trust Centre ([email protected]), by for Human Genetics, Oxford). Friday, November 28th, 2014. See the July 2013 Newsletter for
www.genetics.org.uk . 11 GENETICS SOCIETY BUSINESS 12
The Mary Medal design competition
Lyon Medal –Medal calling design competition all – callingartists! all artists! We have extended the deadline for the competition to design the Mary Lyon medal. The theme should reflect Mary Lyon’s career and her contributions to his new award, named after genetice research. have extended Please thesend deadline your design for forthe both competition sides of the to medal, design the Mary Tthe distinguished geneticist togetherWLyon with medal.a short writtenThe theme explanation, should as reflect electronic Mary files Lyon’s to the Honorarycareer and her Mary Lyon FRS, has been Secretary,contributions Tanya to Whitfield genetic ( [email protected]. Please send your) by Monday, design forMarch both sides st established to reward outstanding 31of the, 2014 medal,. All members together of with the Genetics a short writtenSociety are explanation, welcome to makeas electronic a files research in genetics to scientists submission.to the Honorary Submissions Secretary, will be Tanya judged Whitfield by members ([email protected]) of the Genetics Society Committee, and the winning design will be featured in a future edition of the who are in the middle of their Newsletter.by Monday, March 31st, 2014. All members of the Genetics Society are research career. The Mary Lyon welcome to make a submission. Submissions will be judged by members of medal will be awarded annually, the Genetics Society Committee, and the winning design will be featured in and the winner will be invited Ifa youfuture have edition already of submitted the Newsletter. a design, there is no need to submit it again – to present a lecture at one of allIf yousubmissions have already will be enteredsubmitted into athe design, competition. there is no need to submit it again – the Genetics Society scientific all submissions will be entered into the competition. meetings. The winner of the 2015 Mary Lyon Medal will be For inspiration inspiration and and ideas ideas for suitable for suitable designs, designs, we have we included have included pictures of pictures of announced at the AGM. our Genetics Genetics Society Society and and Mendel Mendel Medals. Medals.
Call for Nominations The Mendel Medal Nominations are now being invited for the 2016 Mary Lyon Medal. To make a nomination, please confirm that your candidate is willing to be nominated, and then forward a two-page CV of the candidate, together with a list of his or her five most important publications, plus a one-page letter of recommendation outlining why you feel their contributions to the field have been outstanding. Please submit these supporting documents via email to the The Mendel Genetics Medal Society Medal Honorary Secretary of the Genetics Society, Tanya Whitfield ([email protected]), by Friday, November 28th, 2014.
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The Genetics Society Medal 12 . GENETICS SOCIETY NEWS . ISSUE 70
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The Balfour Lecture The Balfour Lecture, named after the but there is no requirement for the Lecture. To make a nomination, Genetics Society’s first President, is nominee to be a member, nor is there please confirm that your candidate an award to mark the contributions any restriction on nationality or is willing to be nominated, and to genetics of an outstanding young residence. The 2014 Balfour Lecturer then forward a two-page CV of investigator. The Balfour Lecturer is is Dr Elizabeth Murchison, from the the candidate, together with a list elected by the Society’s Committee Wellcome Trust Sanger Institute of his or her ten most important on the basis of nominations made (Hinxton). Elizabeth was profiled in publications, plus a one-page letter of by any individual member of the the July 2013 Newsletter, and will recommendation outlining why you Society. The only conditions are present her lecture at the Genetics feel their contributions to the field that the recipient of the award must Society Autumn meeting in 2014. have been outstanding. normally have less than 10 years’ The winner of the 2015 Balfour Please submit these supporting postdoctoral research experience at Lecture will be announced at the documents via email to the the time of nomination. AGM. Honorary Secretary, Tanya Whitfield Any nomination must be made Nominations are now being invited ([email protected]), by with the consent of the nominee. for the 2016 Balfour Lecture. Friday, November 28th, 2013. Those making nominations must be Note that there is no restriction on members of the Genetics Society, the subject matter of the Balfour
The JBS Haldane Lecture
The JBS Haldane Lecture recognises Africa and Canada, and studied in an individual for outstanding ability Canada and the USA. He is a Dutch to communicate topical subjects in citizen. He currently lives in London genetics research, widely interpreted, where he is Professor of Evolutionary to an interested lay audience. This Developmental Biology at Imperial speaker will have a flair for conveying College London. He works on the the relevance and excitement of genetic regulation of growth and recent advances in genetics in an metabolism in worms, transmissible informative and engaging way. The cancers and cultural evolution. He is annual open lecture will be delivered also known for his TV series for BBC on a topic, and in a place, agreed with and C4 on evolutionary themes and the Genetics Society. In addition to his book on developmental genetics, delivering the Lecture, the recipient Mutants (2004). His next book, The will receive an honorarium of £1000 Lagoon, on how Aristotle invented The 2014 JBS Haldane Lecturer, and a three-year membership of the science, will be published in 2014. Armand Leroi Society. The 2014 JBS Haldane Lecturer, Armand Leroi be active researchers working in The winner of the 2014 award is Call for Nominations Callthe for UK. Nominations To make a nomination, Professor Armand Leroi (Imperial Nominations are now being invited for the 2016 JBS Haldane Lecture. The Nominations are now being invited recipientplease will confirmbe selected by athat committee your chaired candidate by the Genetics Society’s College London). Armand will Vice President for the Public Understanding of Genetics from nominations for the 2016 JBS Haldane Lecture. madeis willing by Society members. to be nominated,Nominees need not be and members of the Society, be delivering his lecture at the but should be active researchers working in the UK. To make a nomination, The recipient will be selected by a pleasethen confirm submit that your both candidate a is two-page willing to be nominated, CV and then submit Cheltenham Science Festival 2014. both a two-page CV and a short explanation of how the candidate meets the committee chaired by the Genetics criteriaand above.a short Please explanation submit nominations to ofthe Honoraryhow theSecretary, Tanya The winner of the 2015 JBS Haldane Whitfield, by email ([email protected]), by Friday 28th November Society’s Vice President for the 2014.candidate meets the criteria above. Lecture will be announced at the Public Understanding of Genetics Please submit nominations to the AGM. from nominations made by Society Honorary Secretary, Tanya Whitfield, Armand Marie Leroi was born in members. Nominees need not be by email ([email protected]), New Zealand, grew up in South members of the Society, but should by Friday 28th November 2014. 5
www.genetics.org.uk . 13 GENETICS SOCIETY BUSINESS 14
Local Representatives
The Local Representative acts as a key liaison between the membership and the Society’s Office and Committee by helping to recruit new members, publicising the Society’s scientific meetings and other activities, and in providing feedback from the membership on matters of professional concern. The Society normally appoints only one local representative per company, institution or department, but exceptions can be made when there are semi-autonomous sub-divisions containing a substantial number of members or potential members.
We seek to fill vacancies and to update our database of Local Representatives on a yearly basis. Should you wish to volunteer as a local representative or if existing representatives wish to update their contact details, please contact the Honorary Secretary, Tanya Whitfield, by e-mail at [email protected].
SEE FULL LIST ON PAGE 15
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Genetics Society Local Representatives Location Local representative Institute Aberdeen Prof. Anne Donaldson University of Aberdeen Aberystwyth Dr Glyn Jenkins University of Wales Bath Dr Araxi Urrutia University of Bath Belfast Dr Declan McKenna University of Ulster, Belfast Birmingham Prof FCH Franklin University of Birmingham Birmingham Dr Charlotte Rutledge University of Birmingham Brighton Dr Felicity Z Watts University of Sussex Bristol Prof Patty Kuwabara University of Bristol (SOMs) Bristol Dr Colin M Lazarus University of Bristol (Biol. Sci) Cambridge Dr Philip Wigge Sainsbury Laboratory Cambridge Dr Ben Longdon University of Cambridge Cambridge Dr Ian Henderson University of Cambridge Cambridge Dr Howard Baylis University of Cambridge Cambridge Dr Benedicte Sanson University of Cambridge Cardiff Dr Timothy Bowen University of Wales, College of Medicine Cardiff Dr William Davies University of Cardiff Coventry Dr Jose Gutierrez-Marcos University of Warwick Coventry Dr Peter Glen Walley University of Warwick Dundee Prof Michael JR Stark University of Dundee Edinburgh Dr Doug Vernimmen Roslin Institute Edinburgh Prof Ian Jackson MRC Human Genetics Unit Exeter Sarah E. Flanagan PhD University of Exeter Glasgow Dr Iain L Johnstone University of Glasgow Glasgow Dr Kevin O’Dell University of Glasgow Harwell Dr Paul Potter MRC Harwell Hull Heather Sealy-Lewis University of Hull Kent Prof Mick F Tuite University of Kent Leeds Dr Andrew Peel University of Leeds, School of Biology Leicester Dr Ed Hollox University of Leicester London Alex Blackmore Imperial College London London Prof Simon Hughes King’s College London London Prof EMC Fisher Nat’l Hosp for Neurology & Neurosurgery London Prof Richard A Nichols Queen Mary and Westfield College London Dr Stephen Ansell The Natural History Museum London Prof EMC Fisher UCL Institute of Neurology London Dr Francesca Mackenzie University College London London Dr Claire Russell Royal Veterinary College Manchester Dr Catherine Walton University of Manchester Newcastle Dr Kirsten Wolff University of Newcastle (Biol Sci) Norwich Dr Tracey Chapman University of East Anglia Norwich Prof Enrico Coen John Innes Institute Nottingham Dr John FY Brookfield University of Nottingham (University Park campus) Nottingham Dr Richard D. Emes University of Nottingham (Sutton Bonnington) Oxford Prof Liam Dolan Dept of plant sciences Oxford Prof Andrew OM Wilkie University of Oxford (John Radcliffe Hosp) Oxford Prof Jonathan Hodgkin University of Oxford (Biochemistry) Plymouth Dr Mairi Knight University of Plymouth Reading Dr Louise Johnson University of Reading Sheffield Dr Jon Slate University of Sheffield Southampton Dr Richard Edwards University of Southampton St Andrews Prof Mike Ritchie University of St Andrews Stirling Dr Mario Vallejo-Marin University of Stirling Swansea Dr George E Johnson Swansea University York Dr Gonzola Blanco University of York
Ascot -vacant- Imperial College Belfast -vacant- Queen’s University of Belfast Dublin -vacant- University of Dublin Guildford -vacant- Hinxton -vacant- Sanger Centre London -vacant- Crick Institute Manchester -vacant- University of Manchester Norwich -vacant- University of East Anglia Norwich -vacant- John Innes Centre Ulster -vacant- Warwick -vacant- Richmond -vacant- Royal Botanic Gardens, Kew
www.genetics.org.uk . 15 OBITUARY 16
Professor Frederick Sanger 13 August 1918 – 19 November 2013 Don Powell . Wellcome Trust Sanger Institute Communications Manager, Cambridge
red Sanger, who died on 19 method that led to our reading of our and Steve Nicklen, whom Sanger FNovember 2013, age 95, was one own, human, genome. never failed to credit – the method of a handful of people to win the Although he was awarded his Prizes to sequence DNA that was the Nobel Prize twice. Each of his awards for Chemistry, his work transformed foundation of molecular genetics marked an achievement by which biology and especially genetics. for 30 years. Their 1977 paper in he changed the face of science, of Proceedings of the National Academy medicine and of society. He argued that his ten-year struggle of Sciences is a paradigm of succinct to determine the sequence of but dynamic writing. This quietly determined son of residues in insulin was akin to taking Quaker parents set in train, with his a sledgehammer to a car to determine In just under 800 words, the authors experiments, explorations that have how it worked. But the outcome described the results that changed transformed our understanding of was a fascinating insight into the the face of biological sciences. The ourselves and of our world. Fred’s machinery of living matter (to use discussion added merely another 530 insight and persistence meant that it another of Sanger’s phrases). words. With just 14 references, we are was he, rather than anyone else, who done. developed the methods to reveal the He spent a similar amount of time developing – with Alan Coulson Fred Sanger was born towards building blocks of proteins and the the end of the First World War in Gloucestershire, UK. His father was a GP and influenced his young son, who “soon became interested in biology and developed a respect for the importance of science and the scientific method”. Sanger completed his first degree in 1939 at Cambridge University. Although he originally planned to study medicine, he was intrigued by a subject he had not heard of before – biochemistry – and took an advanced course in an additional year. He was a conscientious objector during World War II and was allowed to continue his research for his PhD on “lysine metabolism and a more practical The modest but determined ‘doer’, Fred Sanger, who wrote problem concerning the nitrogen of in 1988: “Of the three main activities involved in scientific potatoes”, which he completed in 1943. research, thinking, talking, and doing, I much prefer In that year, he joined a group led the last and am probably best at it. I am all right at the by Professor Charles Chibnall, who thinking, but not much good at the talking.” analysed the amino acid composition
16 . GENETICS SOCIETY NEWS . ISSUE 70 17 OBITUARY
of proteins with a special interest in worrying about it but rather to get on building long sequences); thin gels the hormone insulin – in part because with planning and becoming involved for improved resolution . The bedrock they could buy insulin in pure form, in the next one. This is always of sequencing was laid by Sanger and a rarity then. Over the succeeding exciting and you soon forget your his colleagues. years Sanger showed that the mature troubles.” Sanger felt that his development of insulin they had consisted of two He was also helped by his wife, Joan, sequencing DNA by base-specific chains of amino acid residues and whom he had married in 1940. His chain termination, allowing he developed methods to define the credit to her in his second Nobel sequence to be read directly from N-terminal peptides of insulin. biography is touching: “Although size separated fragments was the key With improving separation methods not a scientist herself she has development. “This new approach to and better chemistry, Sanger was contributed more to my work than DNA sequencing was I think the best able to sequence insulin completely. anyone else by providing a peaceful idea I have ever had, being original The structure was also defined by and happy home.” They were and ultimately successful.” disulphide bridges that held the to be married for 72 years, Joan But his in internal reflection and peptides together. Elucidating these predeceasing Fred Sanger in October quest for veracity, he didn’t let was a struggle in part because Sanger 2012, aged 93 years. himself off so lightly, continuing, “I found it difficult to determine which In these ‘lean’ years Sanger honed must confess that I am by no means one of a pair of cysteine residues in his skills in examining nucleic certain that it really did happen like a Cys–Cys sequence was a partner in acids, working initially on RNA and that, I certainly do not remember the bridge. successfully sequencing several RNA having the idea … the above account Sanger succeeded and was able to species including 5 S RNA, a tRNA may have originated to some extent publish in 1955 the first sequence of and segments of viral RNAs. from my attempts to explain the a protein, which was recognised by This experience helped to build the method in a simple way when giving his first Nobel Prize in Chemistry, in methods to attack DNA species. It lectures.” 1958. The science was significant, not also helped to build a team including Wherever the balance lies – and as a technical tour de force but as a Bart Barrell and Alan Coulson, whom Sanger admits to focusing on the window into the structure of life. Sanger held as crucial to his work. future, rather than remembering the We know that proteins are built from In the decade from 1972, Sanger and past – Sanger had some dramatic a unique sequence of amino acid his colleagues delivered a stunning results to produce before retirement. residues, a finding that, remarkably series of results: around 100 residues In 1981, his team produced the today, was unclear then. With a of the bacteriophage R17 RNA sequence of the first human genome: sequence to hand, researchers genome; development of several that of human mitochondrial could begin to envisage the three- methods to sequence DNA; the first DNA. The 16,600 base-pair genome sequence has been shown to be dimensional structure that defines complete genome – of phage ΦφX174; the properties of a protein. They methods to sequence both strands remarkably accurate. could also examine, as Sanger did, of DNA (critical to accuracy and related proteins in different species – the nub of evolution – or the differences between a mutant protein In his 1988 autobiography in the Annual Review of and a ‘wild type’, as in disease. Biochemistry, Sanger describes the subsequent years In his 1988 autobiography in the as lean, which he countered by not giving time to his Annual Review of Biochemistry, setbacks: “I have found that the best antidote is to keep Sanger describes the subsequent years as lean, which he countered looking ahead. When an experiment is a complete failure by not giving time to his setbacks: it is best not to spend too much time worrying about it but “I have found that the best antidote rather to get on with planning and becoming involved in is to keep looking ahead. When an experiment is a complete failure it the next one. This is always exciting and you soon forget is best not to spend too much time your troubles.”
www.genetics.org.uk . 17 OBITUARY
18
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But even better was to follow: in chapter for Annual Review of His is a remarkable scientific legacy: 1982, Sanger was one of five authors Biochemistry. Thinking of others, as perhaps more impressive is his reporting the complete sequence of he typically did, he reflected that he personal legacy, a man of whom the genome of bacteriophage λ. At would “have felt guilty at occupying all speak generously, whose quiet
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18 . GENETICS SOCIETY NEWS . ISSUE 70
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www.nature.com/hdySociety Genetics The of behalf on Published www.nature.com/hdySociety Genetics The of behalf on Published www.nature.com/hdy GENETICS SOCIETY MEETING REPORT 20
The Genetics Society Autumn Meeting From Genes to Shape 7th-8th November, 2013. The Royal Society, London
Dr Simon Bishop . The University of Birmingham
Friends and colleagues returned cytoskeleton. So impressive were Montreal. Her work derived from to the Royal Society in London in the videos that subsequent speakers a standard observation — that the November for the 2013 Genetics would on several occasions apologise, pollen tube, being axially symmetric, Society Autumn Meeting, entitled unnecessarily, for their own movies. is an ideal system with which to ‘From Genes to Shape’. Organized Next came François Nedelec, from study mechanical modelling — but by Enrico Coen and Buzz Baum, the European Molecular Biology work shown did not necessarily the meeting covered the formation Laboratory (EMBL), Heidelberg, follow standard protocols. Using of form, from the cellular level investigating the yeast spindle as hypergravity as her mechanical to organs and limbs, and from a the perfect example of a structure stress of choice, Geitmann took an genetic perspective… to physics. optimized for maximum strength, extreme approach to the study of a Indeed, the meeting was heavily yet using minimal material. He single cell, whose migration through influenced by contributions from the compared stiff microtubule bundles the pistil and into the ovule is itself physical sciences, from models of to the construction of pillars, paying an extreme biological challenge. spontaneous motion — as seen in the tribute to the sturdy design of the Raymond Goldstein from the smallest of cellular components — to Duke of York memorial column, University of Cambridge next biophysics on an unanticipated scale: which overlooks the Royal Society applied his expertise in statistical the moment a working fluorescent conference room in which we were physics — for which he won an Ig microscope was put inside the large assembled. Nobel Prize in 2012 —to the problem diameter centrifuge at the European of cytoplasmic streaming. The Space Agency. Sophie Martin, from the University of Lausanne, presented fascinating phenomenon of intracellular fluid The meeting also saw another work on the signalling molecule entrainment was first discovered in first, with short talks from selected Cdc42 in S. pombe. Using a custom, 1774, and has been visualized and abstracts submitted by PhD students functional, internally tagged quantified, yet its function remains and postdocs. Newer stories (and fusion molecule, she studies Cdc42 unknown. Goldstein presented newer storytellers) were given a localization in response to mitosis models to show that streaming chance to impress alongside older and yeast cell mating. Her talk can self-organize, even taking up stories told anew. completed the session on single chloroplasts in the intracellular Andreas Bausch, from the University cell and subcellular shape, and currents. of Munich, opened the meeting introduced us all to a new term for In the final talk of the session, in style with videos of actin and our scientific lexicons: ‘shmoo’, the Max Heiman from Harvard myosin dynamics in minimal shape of yeast gamete cells during Medical School expertly outlined modelling systems. Using a bottom- mating. a developmental dilemma with a up approach, he seeks to unlock The afternoon began with Anja little help from Woody Guthrie, who the governing physical behind the Geitmann, from the University of was once tasked with recreating
The meeting also saw another first, with short talks from selected abstracts submitted by PhD students and postdocs. Newer stories (and newer storytellers) were given a chance to impress alongside older stories told anew.
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The Autumn Meeting provided an excellent overview of Turing’s theories might still be able the vast fields of developmental biology, biomechanics to explain such complex structures. and biophysics, all underpinned by genetics. Jeremy Green from King’s College London followed with the genetics of palate formation in mice. He, too, a performance from seventeen undifferentiated stem cells that referenced Turing when explaining months prior “count for count, pioneers new plant growth, he rugae appear in sequence in the breath for breath, word for word, presented models of geometric upper mouth. Green achieved move for move, eye blink for blink”. changes in tissue shape. These so arguably the finest coup of the Such is the challenge of assuming impressed the audience that they meeting, invoking citizen science multicellular form — the genetic were often referenced by subsequent when he encouraged us all to lift framework of development must speakers. our tongues to feel the ridges of our repeatedly create shape from single Frank Julicher from the Max Planck palates. sheets of cells. Heiman uses sensory Institute, Dresden, was the first Last, Bénédicte Sanson from the neuron migration in C. elegans as his invited speaker to present work on University of Cambridge rounded off model, asking how neurons and glia Drosophila, the archetypal genetic proceedings with a fascinating talk coordinate to build neural network model. Focusing on the morphogen on the individual cell movements structures. decapentaplegic (Dpp), he introduced that underlie gastrulation in the The 2013 Mendel Medal was awarded models whereby Dpp concentration Drosophila embryo. Work shown to Stan Leibler, from the Rockefeller dictates position by a scaling examined the genetic basis of axial University, by the President of mechanism. Such gradients need not forces that transform the Drosophila the Genetics Society, Enrico Coen. be static — such as in the moving embryo from cell bundle to Holding two PhDs in physics, wave of differentiation that occurs in asymmetrical fruit fly prototype, the Leibler admitted some reticence to the developing fly eye disc. very step required for all subsequent presenting at a genetics meeting, Verônica Grieneisen from the John development. It was a fitting topic to declaring himself the “control Innes Centre held the audience contextualize the entire meeting. experiment” of the conference. His in rapt attention as she sought The Autumn Meeting provided talk, entitled ‘Statistical Biology: to ‘decode the logic behind cell an excellent overview of the vast following in Mendel’s footsteps’ and tissue polarity’. She covered fields of developmental biology, was, he announced, a “physicist’s everything from the Rac signalling biomechanics and biophysics, all take on genetics”. In the event, he protein network and its role in cell underpinned by genetics. Credit focused separately on the issues turning; the challenge of auxin must also be given to the selected of heredity and contingency signalling across the plant cell short talks, given throughout the (whether, if life were repeated, wall (“imagine the borders of a programme, which complemented the same things would happen), Battenberg cake”); to the keratocyte greatly understanding of current introducing an enormous dataset with no nucleus that could still research — covering everything from to highlight the non-mendelian migrate. With this keratocyte, the cell shape and cancer to beautiful stochastic inheritance of behaviour. meeting had become ‘From No Genes computer models of snapdragon The talk was an impressive and to Shape’. formation. Given that this was comprehensive overview of Leibler’s The afternoon was dominated by the first time such talks had been body of work, and a fitting tribute to included, they slotted in seamlessly, Gregor Mendel himself. morphology, beginning with James Sharpe from the EMBL Centre for and were well received. Day two raised the structural level Genomic Regulation, Barcelona. from cells to tissues. Jan Traas, Alan Turing once claimed the stripes from ENS Lyon, opened with the of a zebra easy to explain, it was first of several presentations on the horse-shaped part that provided floral development. Focusing the challenge. Here, Sharpe focused on the meristem, the region of on the vertebrate limb, showing
www.genetics.org.uk . 21 GENETIC SOCIETY SPONSORED EVENTS 22
19th European Meeting of PhD students in Evolutionary Biology 3rd-7th September, 2013, Exeter
Back at the Penryn campus we had invited talks from Prof. Judith Mank, Dr. Martin Stevens, Dr. Jarod Hadfield, Dr. Paula Stockley, Dr. Tom Currie, Dr. Seirian Sumner, Dr. Britt Koskella & Prof. Troy Day, to complement the 76 talks given by delegates. Highlights included Paul Saunders’ (Université Montpellier II) talk on unusual sex chromosome transmission in a mouse with XY females; Pepijn Kamminga (Naturalis Biodiversity Centre) and his presentation on extant shark jaw morphology and the talk on genomic and transcriptomic variation in he 19th European Meeting of preliminary ideas we had about what spatially separate populations of PhD students in Evolutionary would entail a perfect conference. sticklebacks by Yun Huang (Max T Planck Institute for Evolutionary Biology (EMPSEB19) took place from We were able to attract high quality 3rd-7th September at the University Biology). Pepijn’s talk was voted invited speakers, run workshops on best of the delegate talks, winning of Exeter’s Penryn campus. 76 PhD current issues in science today, offer students from universities across the him a holiday in Spain courtesy of travel grants and pay for transport, AllGenetics. world were joined by nine invited accommodation and food for our speakers for a full program of talks, delegates. Funding also helped keep The senior speakers provided workshops and activities. the registration fee low, ensuring we feedback on every attendee’s talk, as EMPSEB is a unique opportunity had representatives from all corners well as chairing discussion groups in that every attendee gives a talk. of Europe and further afield. and being available for informal Started in 1995 in Switzerland, the chats with delegates, helping to A highlight of the conference was break down the barrier between event has visited Poland, Sweden, the day spent at the Eden project. Portugal, Scotland, the Netherlands early-career researchers and those This striking charity project set in more established roles. They were and more. With a mixture of the perfect scene for our public nationalities, subject areas and uniformly excellent in this role and engagement (PE) and open access the input and expertise was greatly stages of progress, the talks were workshops, as well as fantastic talks incredibly varied and touched on just appreciated by both delegates and the by Prof. em. Geoff Parker and Prof. organising committee. about every corner of evolutionary Laurent Keller. biology. One common theme was The previously mentioned PE event the quality of the talks; you would The PE workshop helped equip took place at the impressive Maritime never guess this was many people’s delegates for the PE event held later Museum in Falmouth, about 2 miles first presentation to an international in the week, while the open access down the hill from the Penryn audience! workshop instigated some lively campus. Here we held a free event debate about the relative merits of for members of the public, inviting Support from the Genetics Society the different publishing models. helped us to enact many of the them to listen to some interesting
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ideas about science and evolution and chat to some researchers from UK Genome Science Meeting around Europe with a complimentary 2nd-4th September, 2013, Nottingham glass of orange juice or wine in hand. The aim was to put an evening of identified as suffering from various talks about science up there with forms of cancer and other genetic going to see a stand-up comedian or disorders. a film at the cinema as an enjoyable Parallel sessions were again run the way to spend leisure time. It was following morning, with sessions also a fantastic opportunity for our on the “Clinical and Immunological delegates to be grilled by members Applications of NGS” and of the public about what they do, “Evolutionary Genomics”. After a why they find it interesting and lunchtime poster session, the talks why the non-scientist should also be ollowing on from the success of reconvened with two more parallel interested. This was complemented Fthe previous 3 years’ UK Next sessions: “Pathogens and Microbes” by 5 minute “lightning talks” by Prof. Generation Sequencing meetings, and “Gene Expression”. A delicious Tom Tregenza, Prof. Dave Hoksen the 2013 UK Genome Science Meeting conference dinner held at the & Prof. Stuart Bearhop, designed to reached even greater heights when Crowne Plaza Hotel in the centre of entertain the public and demonstrate it was held at the Jubilee Campus Nottingham brought the day to an to the delegates how engaging and of the University of Nottingham for end. fun talks to the public could and the 4th year running. The meeting should be. The evening was closed was attended by a capacity audience The final day started with sessions by Dr. Britt Koskella outlining how of 250 delegates from institutions on “Evolving Technologies” and studying evolution could save your from all over the UK with a number “Agrifoods” running at the same life, and prize-giving for the best of European invited speakers also time. At the final lunchtime poster delegate contributions to the event. attending. This year the meeting session, The Genome Analysis concentrated more on the biological Centre’s Dharanya Sampath (see The event was capped off by a final photo) won the student poster prize party, featuring local 12-piece band discoveries made in the field of Genome Science rather than the with a poster on exome sequencing the Klezbians and their brand of and variant discovery in barley, while Jewish-Gypsy-Cornish folk-rock. The technological and bioinformatic advancements bias of previous years. University of Nottingham’s Harriet following day over 40 of the delegates Johnson was awarded the runner-up stayed on for the “excursion” visiting Clive Brown, the Chief Technology prize for her poster on “Expression- local spots of beauty and interest Officer of Oxford Nanopore RAD Sequencing in the Pond Snail such as Sennen beach, the Minnack Technologies, kicked off proceedings Lymnaea stagnalis”. Theatre, Land’s End and St Michael’s on the Monday afternoon with a Mount and going hiking or surfing. much-anticipated keynote address The meeting ended on the Wednesday to a packed lecture theatre in which afternoon with the conclusion of the Feedback from delegates and invited “Evolving Technologies” session and speakers alike has been incredibly he updated the audience on the very latest developments in the field of a parallel session of “Miscellaneous positive. Following EMPSEB18, Additional Talks”. held in Virrat, Finland, was always Nanopore sequencing. going to be a hard task, but by the After a couple of parallel sessions on We would like to thank the Genetics accounts of those that attended both Metagenomics and Bioinformatics, Society and all of our numerous we managed it and more. Following a Mark Caulfield, Chief Scientist of the sponsors for their generous support, brief pitch by interested groups and newly formed Genomics England, without which the great success of a vote by the rest of the conference, ended the first day with a plenary this meeting would not have been EMPSEB20 was awarded to Belgium. lecture outlining the plans for the possible. Next year, the 2014 UK We eagerly await the next conference recently announced 100k genome Genome Science meeting will be held and the further opportunities to initiative which plans to perform at Oxford University from 2nd-4th promote the field of evolutionary whole genome sequencing of 100,000 September. biology. English NHS patients who have been
www.genetics.org.uk . 23 GENETIC SOCIETY SPONSORED EVENTS 24
1st UK Workshop on Drosophila Developmental Cell Biology: Flies over the burn 3rd - 5th May, 2013, Dundee
his workshop hosted 20 UK the principles governing regulatory Tapon (London) presented his lab’s Tbased scientists working on the RNA-protein interactions, as well as work on the role of physical forces cell and developmental biology of their biological roles, her laboratory in determining tissue shape in the Drosophila melanogaster. The ethos is using a genome-wide analysis Drosophila wing. Using a combination of the workshop was to discuss (RIP-Chip technique) to identify of live imaging of ex vivo cultured unconventional, unpublished RNAs associated with regulatory developing wings and mathematical and surprising results and novel RNA-binding proteins in different modelling, they explored the effect techniques in a collegial atmosphere fly tissues. Juan Pablo Couso of variations in proliferation rates to promote the use of the genetic (Sussex) discussed the systematic on cell and wing shape. Buzz Baum model organism Drosophila in identification of an abundant but (London) discussed novel approaches biomedical research. The meeting unusual class of peptides encoded by to understand how epithelial cells was organised by Will Wood (Bath) small open reading frames and their undergo collective movements and and Arno Müller (Dundee) held at role in Calcium uptake and heart how order is established in epithelia ‘The Burn’, a mansion in the Scottish contraction. during dynamic movements that Highlands owned by the Goodenough In the cell division session, Jordan occur during morphogenesis. Helen College, UCL London. Raff (Oxford) discussed the formation Skaer (Cambridge) talked about the All 23 participants presented at this of the centrosome and the role of forces that ensure normal tubule meeting followed by specific and more scaffolds during distinct modes of morphogenesis which are provided by general evening discussion about the centrosome growth. James Wakefield cell rearrangements, cell anchoring future of the Drosophila model in the (Exeter) discussed his group’s data and guided migration during the UK scientific landscape. The scientific on the control of microtubule growth development of the Malpighian sessions covered a large range of during formation of the mitotic tubules. topics including morphogenesis, spindle and the identification of In the cell signalling session, Jean- cell division, cell signalling, cell distinct pathways in this regulation. Paul Vincent (London) described a migration and cytoskeleton. Sonia Jens Januschke (Dundee) reported homologous recombination work-flow López de Quinto (Cardiff) discussed on the effects of centrosome loss that allows rapid genome editing, how conserved RNA-binding proteins and impairment of microtubule thus making it possible to introduce interact with different RNA-targets to dynamics on interphase architecture an attP integrase site at any genomic control their translation in time and of Drosophila larval neuroblasts. location and to replace endogenous space. With the aim of elucidating In the morphogenesis session, Nic genes with modified versions. His lab
The workshop was a great success and the need for focused small meetings was highly valued by all participants.
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is using this method to assess the in of locomotion in developmentally during morphogenesis. Bénédicte vivo activity of a membrane-tethered dispersing fly macrophages. Using Sanson (Cambridge) showed recent form of Wingless. Isabel Palacios quantitative analysis of the dynamics advances in her laboratory’s attempts (Cambridge) described novel findings of cell collisions, his lab are beginning to understand how boundary of the role of signaling pathways to dissect the cytoskeletal responses formation during embryogenesis during spermatogenesis. controlling the process. is generated and the role of the David Strutt (Sheffield) talked about Will Wood (Bath) presented recent cytoskeleton in this process. Arno recent work trying to understand the work from his lab investigating the Müller (Dundee) presented how dynamics and stoichiometry of the mechanism by which macrophages successful labelling of fruit flies with core planar polarity protein complexes detect and respond to damage cues amino acids containing stable heavy that allow cells to communicate that drive their rapid inflammatory isotopes can be used for quantitative their polarity to their neighbours. migration towards epithelial proteomics of fly embryos. Using Franck Pichaud (London) presented wounds and Paul Martin (Bristol) this technology, the Müller group recent work related to the temporal described how the fly can be used to have begun to identify quantitative control of cellular morphogenesis model epithelial wound repair and changes in phospho-peptide during cell differentiation. His lab inflammation in vivo. abundance in mutants of protein uses the fly photoreceptor as an in kinases providing an opportunity In the cytoskeleton session, Nick to profile protein kinases in vivo vivo model system to study cellular Brown (Cambridge) presented data on morphogenesis during differentiation. and understand their function in the integrin complex component talin development. In this system, the combination of and its role in mechanotransduction systemic and local transcriptional during tissue formation. Katja Röper The workshop was a great success and programs govern polarity remodeling (Cambridge) discussed her lab’s the need for focused small meetings at a precise developmental time, in recent advances in the understanding was highly valued by all participants. sync with the overall development of of how molecular anisotropies in It was concluded that this workshop the animal. embryos are translated into localised should be continued in the future at In the cell migration session, Brian cytoskeletal behaviour, as well as new the same venue. Stramer (London) presented his data analysing cytoskeletal crosstalk modelling of contact inhibition between actin and microtubules
www.genetics.org.uk . 25 GENETIC SOCIETY SPONSORED EVENTS 26
9th Gatsby Plant Science summer School 30th June - 5th July, 2013, York
he 9th Gatsby Plant Science Sutton Bank, with an excellent programme as well as talking to Tsummer School took place at the introduction to lichens by Sally some of the teachers attending the Emergency Planning College (EPC) Eaton. This year’s students were 4th SAPS Summer School that aims between 30th June and 5th July 2013. particularly taken by talks from to enthuse science teachers about Now our 6th visit to the EPC, we Neil Bruce and Vivian Moses; Neil current developments in plant feel like old friends returning and, talked of his translational research, science to take back to the classroom. as ever, new visitors to the school from biochemistry to engineering While one aim of the summer are energised by the quality of the plants to remove pollutants from the school is to attract more of the UK’s speakers, practicals, students and biosphere, and Vivian Moses gave an high-achieving students into plant venue. entertaining and thought-provoking science PhDs, this year’s students This year the broad mix of plant historical perspective of the GM also appreciated the Next Steps talk science was all well-received and controversy and the UK public, which from Keely Watson, who attended the included a focus on insects. Saskia was so encouraging to have debated. first school in 2005, which prompted Hogenhout’s talk on the dynamics of Once again the practical classes an interest in plants, and has been plant-insect interactions in disease proved highly popular; pathology working in commercial horticulture was kindly sponsored by the British again being the students’ favourite since graduation in 2007. All very Society of Plant Pathology. Beverley and updated with information on timely and encouraging, given the Glover, the new Director of the Ash dieback. All practicals proved a RHS report to government earlier Cambridge Botanic Gardens, closed favourite for a number of students. this year on Horticulture Matters. the school with a talk on flower Thanks to Jenny Farrar and her It was also encouraging to read some diversity relating to pollinators. colleagues from Edinburgh for student comments from those who Added to this, Enrico Coen’s talk, extending the Biodiversity practical remain committed to their love of which was sponsored by the Genetics at Sutton Bank and we look forward animal biology but, as a result of Society, gave a geneticist’s view to developing further links between the summer school, appreciate the of flower development relating to this and the Plant Identification and importance of plant science and function that complemented other Ecology practicals. the value of interacting with plant talks beautifully. Malcolm Bennett’s The careers session this year scientists to address future research talk on root biology stressed the included a younger range of problems. importance of multidisciplinary professionals than in previous years The buzz of the summer school approaches, showing the power of and students appreciated hearing of reaches most who attend and we X-ray Micro CT imaging to view diverse current destinations for those hope each person can pass that on roots in soil and Jane Langdale’s around 10 years after graduation, and amplify the signal. evolutionary view of model systems including patent law and science prepared students to look beyond policy. Teaching had a prominent the angiosperms, which the students place as a career destination, with got chance to do on the Biodiversity an introduction to the Teach First practical at the National Park,
26 . GENETICS SOCIETY NEWS . ISSUE 70 Download & discover.
Go in search of bighorn sheep’s ‘horny’ genes; cross paths with a hybrid Go in search of bighorn sheep’s ‘horny’ genes; cross paths with a hybrid Oxford Ragwort, and catch up with Heredity’s Editor Richard Nichols Oxford Ragwort, and catch up with Heredity’s Editor Richard Nichols who is reporting from a meeting of the ‘ConGRESS’ Network. who is reporting from a meeting of the ‘ConGRESS’ Network.
Corresponding papers from the Heredity: Corresponding papers from the Heredity: QTL mapping for sexually dimorphic fitness-related traits in wild bighorn sheep QTLJ Poissant, mapping C S for Davis, sexually R M Malenfant,dimorphic fitness-relatedJ T Hogg and D traitsW Coltman in wild bighorn sheep JHeredity Poissant, (17 C AugustS Davis, 2011) R M Malenfant,| doi:10.1038/hdy.2011.69 J T Hogg and D W Coltman Heredity (17 August 2011) | doi:10.1038/hdy.2011.69 Genetic and phenotypic divergence of homoploid hybrid species from parental species GeneticB L Gross and phenotypic divergence of homoploid hybrid species from parental species BHeredity L Gross advance online publication 14 September 2011 | doi: 10.1038/hdy.2011.80 Heredity advance online publication 14 September 2011 | doi: 10.1038/hdy.2011.80 Molecular genetic and quantitative trait divergence associated with recent homoploid hybrid speciation: Moleculara study of Seneciogenetic andsqualidus quantitative (Asteraceae) trait divergence associated with recent homoploid hybrid speciation: aA studyC Brennan, of Senecio D Barker, squalidus S J Hiscock (Asteraceae) and R J Abbott AHeredity C Brennan, (10 August D Barker, 2011) S J |Hiscock doi:10.1038/hdy.2011.46 and R J Abbott Heredity (10 August 2011) | doi:10.1038/hdy.2011.46
Download Download& discover. Download& the discov free app forer your. Downloadphone at http://gettag.mobi the free app for your Get the free mobile app for your phone http://gettag.mobi phone at http://gettag.mobi Get the free mobileDon’t app have for your a smart phone phone? Download the podcast here: www.nature.com/hdy/podcast http://gettag.mobiDon’t have a smart phone? Download the podcast here: www.nature.com/hdy/podcast 20375-13_HDY_Sept_podcast.indd 1 12/10/2011 17:31
20375-13_HDY_Sept_podcast.indd 1 12/10/2011 17:31 Join the online debate
Keep in touch with your colleagues via the Genetics Society Group on LinkedIn
e have added another way to This prevents a lot of indiscriminate Wkeep in touch with society postings from online recruiters that and your colleagues by creating a have affected some of the Genetics Genetics Society group on LinkedIn. related groups. As a member of the In order to ensure that all content LinkedIn group you will be updated on that group is meaningful to you, on our activities but you can also we have set this up as a moderated comment and add you own events. group. This means that when you If you are not already on LinkedIn join the group this needs to be please consider joining. Especially formally approved, but as long as we young scientists hunting for a job can see you are active in a genetics outside academia do well to build up related area this is not a problem. their profile on LinkedIn. 29 FEATURES
Heredity Podcasts
The free Heredity Informal interviews are used to You can listen by make the science in Heredity more • entering ‘heredity podcast’ podcasts provide accessible. The authors explain the into your search engine basic foundations of their topic, the latest research and draw out the key findings of • clicking the link on the their paper. heredity home page news from Heredity, www.nature.com/hdy/ or by The podcasts have proved popular in the words of with biology undergraduates and • subscribing on iTunes to professionals alike, and have drawn receive the latest episodes the researchers subscribers from Brazil to Japan and automatically (search for themselves. from Finland to New Zealand. ‘heredity podcast’).
Enquiries to the podcast editor [email protected] Keep up to date by following Heredity on Twitter - https://twitter.com/HeredityJournal
www.genetics.org.uk . 29 FEATURES 30
Blue Skies and Bench Space: Adventures in Cancer Research
Kathleen Weston . Cancer Research UK London Research Institute
eter Goodfellow … only became Having landed on the Y, Peter they managed to recruit the five Pinvolved with Y-chromosome realised that it was a wonderful founding members of the Whitehead genetics by accident. The unexplored landscape, perfect for from the top echelons of molecular immunologist Andrew McMichael, someone whose skills lay in genome biology and genetics. Plunged into a friend from his Stanford years, mapping, and that hidden within this boiling intellectual soup, Page, had asked him to characterise an the empty landscape was a valuable a newly qualified MD with only antibody, 12E7, raised against a prize: the gene encoding the Testis a couple of years’ lab experience, surface marker that was supposed Determining Factor. Peter was was simultaneously exhilarated by to be found only on T cells, the white hooked. the exalted company and terrified blood cells involved in recognition Back in Boston, David Page was that they would dismiss him as an and clearance of infections. Far from having a bit of a crisis of self- intellectual pygmy. being T cell-specific, the marker that confidence. His position as a To his further alarm, his expectations 12E7 recognised, MIC2, turned out Research Fellow of the Whitehead of being a kind of glorified to be on pretty much everywhere. Institute was entirely novel, as was postdoctoral fellow with Rudolf However, a dull project suddenly the Institute itself. Jack Whitehead, Jaenisch, a world leader in the new became more interesting when its benefactor, had got together with field of making genetically modified Peter’s lab mapped the gene encoding Nobelist David Baltimore with the mice, were confounded when it MIC2 to the X chromosome and then intention of producing a kind of became clear that he was expected found that this gene, MIC2X, had a artists’ colony for scientists. They to be working independently. Page partner, MIC2Y, on the Y. wanted to attract the best possible had to perform a hasty mental They cloned both genes, and in people and give them the resources regrouping and decided, rather like 1983, MIC2Y became the first-ever and intellectual freedom to be as Peter Goodfellow a few years before, published gene with a functional wildly creative as they wished. They to stick with what he knew and was product to be cloned from the Y. were clearly onto a winner because good at. In Botstein’s lab, he had
The Y chromosome looks a little like a skittle, with a short arm (called Yp), and a long arm (Yq) separated by a constriction called the centromere, the point at which the chromosome attaches to the cell spindle during cell division.
30 . GENETICS SOCIETY NEWS . ISSUE 70 FEATURES 31
started a collaboration with Finnish geneticist Albert de la Chapelle— who in 1964 had described the first cases of sex-reversed XX males—to explore how RFLP probes could be used to study such disorders. It seemed natural to carry on with the collaboration and, in keeping with the ethos of the Whitehead, to aim high. Page set about finding a research assistant with a capacity for infinite hard work; he too, had decided to clone the Testis Determining Factor. The Y chromosome looks a little like a skittle, with a short arm (called Yp), and a long arm (Yq) separated by a constriction called the centromere, the point at which the chromosome attaches to the cell spindle during cell division. From work from Pat Jacobs’s lab in the 1960s, it was possible to infer the rough location of TDF, on the short arm Yp, because if this region gets accidentally stuck onto an X chromosome, it causes the development of XX males. Slightly narrowing the search area, TDF could not be at the very tip of Yp, because this was the pseudo- autosomal region, the part of the Y chromosome alike enough to the X to pair with it; genes located there could not be unique to the Y, as TDF had to be. This narrowed the region down a bit, but the leap from a piece of DNA some 10 million base pairs (10 Mb) long to finding a gene, perhaps a few thousand base pairs in length at most, was still huge. It would be a formidable technical challenge that perhaps only Page and Goodfellow, and one other lab, that of Jean Weissenbach in Paris, had the expertise, muscle, and ambition to contemplate realistically. © 2014 • 336 pp., illus., glossary, index. ISBN 978-1-621820-77-2. Hardcover $16 £10.75
www.genetics.org.uk . 31 FEATURES 32
Interview No more “a gene for...” Mark Henderson, JBS Haldane prize lecture 2013
Dr Kat Arney . Science Information Manager at Cancer Research UK
In September, Mark Henderson – Head of Communications at the Wellcome Trust and author of the books The Geek Manifesto and 50 Genetics Ideas You Really Need To Know – gave the inaugural Genetics Society JBS Haldane lecture at the British Science Association festival in Newcastle. The prize lecture has been established to recognise people who have made an outstanding contribution to the public communication of genetics.
r Kat Arney, presenter and when the picture needs to be some of the cases in which genomics Dproducer of the Naked Genetics communicated in a much more subtle is starting to make the swiftest podcast, caught up with Mark just way?” inroads into medicine. It’s true, for before he gave his talk, to find out example, of very rare developmental more about the areas he planned to MARK disorders where a mutation causes discuss. “That’s exactly right. I think it’s severe mental retardation, where happened largely because some of genomics is having a really big MARK the lowest hanging fruit of genomics impact already. It’s sometimes true in “I think that often the biggest were actually very deterministic cancer, although in slightly different problem in the way that genomics genes - things like the mutation way where we’re usually talking gets communicated is the misframing that causes Huntington’s disease. If about acquired mutations in somatic of genetics and genomics - in the you get that mutation, you get that cells. And even there, it’s not just one popular imagination at least - as a disease. If you inherit two of the mutation that causes the cancer but a deterministic science whereas, in recessive mutations that cause cystic cascade of several mutations that are actual fact, it’s much more often a fibrosis, you will get cystic fibrosis. necessary. So, there are some cases probabilistic one. And this leads to And there are a number of other well- in which that kind of determinism is a misframing of some of the social known genetic conditions that work correct. challenges that we face as a result in exactly that way. As a result, there “But more broadly, it’s not actually of developments in technology, has been this widespread framing the case. Most of the common particularly in medical genomics.” of genomics is something that’s conditions that we know about – very deterministic - you have this diabetes, heart disease and so on KAT mutation in this gene, and you will – are influenced by lots and lots “You mean the stories we hear inevitably get this disease. of genes which tend to have very that say ‘It’s a gene for fatness’ or “Now that’s true in a very small small individual effects. That’s even ‘It’s a gene for cancer’ or whatever, subset of diseases, and these are more the case when you start to
32 . GENETICS SOCIETY NEWS . ISSUE 70 FEATURES 33
look at what you might describe as we’re seeing already in cancer and “I think we have to get away more social traits – things such as rare disease and some infectious from this language of ‘gene for intelligence or height or obesity, or diseases. It’s not for the worried well this’ or ‘gene for that’ as you anything like that. So if we’re to who are going to be able to predict start to think properly about how exactly whether they’re going to see all the time in newspaper and why genomics is going to end get cancer 20 years in the future. headlines - the fat gene or the up having an effect on society and Whether that comes around is, I binge drinking gene, things health, we need to start from that think, a moot point. The other thing like that. I think what tends point of understanding that, for the is that genomics causes a number of most part, it is a probabilistic science complicated ethical problems. But to happen as a result of this and not a deterministic one.” some of them I think are overblown sort of ‘gene for’ narrative is because of this idea that everything you get two almost conflicting KAT is a gene for this and gene for that. responses, both of which are “What changes would you like to “Something that also flows out of see in the way that genetics and this is that very many people are wrong.” genomics are communicated to the concerned about what insurance public?” companies will do with genetic data or what employers might want to MARK do with it. Are you going to have to “I think we have to get away from take a genetic test before you apply this language of ‘gene for this’ or for certain jobs? That’s where I think ‘gene for that’ as you see all the time some of this probabilistic versus in newspaper headlines - the fat gene deterministic stuff really matters. or the binge drinking gene, things “I think that analysing somebody’s like that. Frankly, there is no fat DNA is going to be an absolutely gene, and there is no binge drinking appalling way to test their aptitude gene. Some of these traits may have for any job. It’s going to reveal an element of genetic influence, virtually nothing. If you want to but there’ll be many genes that measure how intelligent somebody are involved and of course, many is, or how conscientious they are, environmental factors as well. I think or how good their IT skills, the idea what tends to happen as a result of you’re going to be able to do that by this sort of ‘gene for’ narrative is you measuring somebody’s genome is get two almost conflicting responses, rather ludicrous. And if we do need both of which are wrong. to think about laws against genetic “One is this idea that genomics and discrimination, it’s not because medical application of genomics is genetic discrimination will work. going to be terrifically simple and It’s because it won’t work and we that it’s going to be dead easy to probably need to save people from predict what people are going to die themselves.” of in 50 years’ time by analysing their This interview was adapted from genome. For example, the idea that the September edition of the Naked you’re going to be able to tell how Genetics podcast. Listen and intelligent somebody is by looking download all the monthly shows for at their DNA. That’s simply not the free at nakedscientists.com/genetics. case. “Instead, there will be slow incremental progress in applying insights in very specific targeted bits of the genome to medicine as
www.genetics.org.uk . 33 Download & discover.
Go in search of bighorn sheep’s ‘horny’ genes; cross paths with a hybrid Go in search of bighorn sheep’s ‘horny’ genes; cross paths with a hybrid Oxford Ragwort, and catch up with Heredity’s Editor Richard Nichols Oxford Ragwort, and catch up with Heredity’s Editor Richard Nichols who is reporting from a meeting of the ‘ConGRESS’ Network. who is reporting from a meeting of the ‘ConGRESS’ Network.
Corresponding papers from the Heredity: Corresponding papers from the Heredity: QTL mapping for sexually dimorphic fitness-related traits in wild bighorn sheep QTLJ Poissant, mapping C S for Davis, sexually R M Malenfant,dimorphic fitness-relatedJ T Hogg and D traitsW Coltman in wild bighorn sheep JHeredity Poissant, (17 C AugustS Davis, 2011) R M Malenfant,| doi:10.1038/hdy.2011.69 J T Hogg and D W Coltman Heredity (17 August 2011) | doi:10.1038/hdy.2011.69 Genetic and phenotypic divergence of homoploid hybrid species from parental species GeneticB L Gross and phenotypic divergence of homoploid hybrid species from parental species BHeredity L Gross advance online publication 14 September 2011 | doi: 10.1038/hdy.2011.80 Heredity advance online publication 14 September 2011 | doi: 10.1038/hdy.2011.80 Molecular genetic and quantitative trait divergence associated with recent homoploid hybrid speciation: Moleculara study of Seneciogenetic andsqualidus quantitative (Asteraceae) trait divergence associated with recent homoploid hybrid speciation: aA studyC Brennan, of Senecio D Barker, squalidus S J Hiscock (Asteraceae) and R J Abbott AHeredity C Brennan, (10 August D Barker, 2011) S J |Hiscock doi:10.1038/hdy.2011.46 and R J Abbott Heredity (10 August 2011) | doi:10.1038/hdy.2011.46
Download Download& discover. Download& the discov free app forer your. Downloadphone at http://gettag.mobi the free app for your Get the free mobile app for your phone http://gettag.mobi phone at http://gettag.mobi Get the free mobileDon’t app have for your a smart phone phone? Download the podcast here: www.nature.com/hdy/podcast http://gettag.mobiDon’t have a smart phone? Download the podcast here: www.nature.com/hdy/podcast 20375-13_HDY_Sept_podcast.indd 1 12/10/2011 17:31
20375-13_HDY_Sept_podcast.indd 1 12/10/2011 17:31 TRAVEL GRANTS FOR 35 JUNIOR SCIENTISTS
Epigenomics as a Discovery Tool in Current Biology 19 – 20th September, 2013, Mainz, Germany
Nikolas Barkas . King’s College London
he “Epigenomics as a Discovery was equally valuable. Of great to me as I am about to start using TTool in Current Biology” interest was an excellent talk by transcriptome-profiling techniques workshop took place in mid- Dr. Jacob Hanna on the “Epigenetic and the talks provided an excellent September in Mainz, Germany. stability of pluripotent and somatic introduction to the methodologies. This workshop was an excellent cell states”, which incorporated In the third keynote talk of the opportunity for me to listen to work recently published in Nature. meeting, Dr. Chris Ponting, from and interact with leaders in the The third session of the day, on the University of Oxford, outlined fields of Epigenetics. The meeting Chromatin organization, was his recent work on the evolution was split over two days, with also very valuable as it concisely and mechanisms of long noncoding the first day dedicated to DNA– summarized current work on the RNAs (lncRNAs), pointing to the Protein interactions and Histone field of nucleolar organization, an fact that lncRNAs can be subdivided Modifications, DNA methylation area on which I do not work directly into different functional categories ad Chromatin Organization and but is highly relevant to my thinking and are likely to serve as ground the second day focusing on Gene about my own research questions. for evolution of complex organisms Expression, RNA-protein interactions Finally, an excellent talk by Dr in which primary DNA sequence is and Proteomics in Epigenetics. Eileen Furlong on on-going work to already heavily constrained. The In the opening session on DNA- identify enhancer interactions during meeting closed with a roundtable Protein interactions and histone embryonic development concluded discussion and a brief networking modifications, practical issues the talks for the day. The talks were session. I am very grateful to the surrounding ChIP-seq protocols were followed by dinner and a networking Genetics Society for the Junior discussed and the state-of-the-art session. Scientist Travel Grant which allowed methodology was defined and I was During the second day, the topics me to participate in this meeting. able to draw from the experience of of Gene Expression, RNA-Protein the speakers and gain information Interactions and Proteomics in that will allow me to optimize my Epigenetics were discussed. The talk own pipeline. The following session on Gene Expression analysis by Dr on analysis of methylation data Tim Roloff was of particular interest
The third session of the day, on Chromatin organization, was very valuable as it concisely summarized current work on the field of nucleolar organization, an area on which I do not work directly but is highly relevant to my thinking about my own research questions.
www.genetics.org.uk . 35 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 36
The American Society of Human Genetics 63rd Annual Meeting 22 – 26th October, 2013, Boston
Emma Davenport . University of Oxford
The American Society of Human Genetics holds an annual meeting which is the largest human genetics conference in the world. This year, the meeting was held in Boston and attracted over 6,500 scientific attendees from at least 60 countries. The meeting included 21 invited scientific sessions and 45 platform sessions.
ver recent years, the field of interested in common differences epigenetics and beyond”, to be very Ohuman genetics has seen a found in the DNA of patients with helpful for future direction of my dramatic increase in the scale of severe sepsis, and the effects this has data analysis over the next year. data sets generated in the quest to on an individual’s disease severity In addition to the meeting, I was also identify genetic variants associated and survival. This disease accounts able to attend a teaching workshop with many diverse phenotypes for a large proportion of intensive while in Boston. The aim of this such as common diseases. However, care unit admissions in the UK, workshop was to encourage effective emphasis has now shifted towards and has a mortality rate over 30%, teaching of human genetics. It gave understanding the functional effects highlighting the need for clinical me some fantastic ideas that I will of these identified variants, and, translation from new insights into be sure to put into practice when therefore, increasing our knowledge the disease pathophysiology. teaching the undergraduates this of the mechanistic basis of diseases. The poster I presented at the term, and also gave me an insight I particularly enjoyed attending meeting represented a substantial into the teaching structure in the a number of the sessions at proportion of the research I have USA. the meeting that covered this been carrying out for the last three I am very grateful to the Genetics exciting area of human genetics years. The main focus has been to Society UK for their support to including one entitled “Functional resolve regulatory genetic variants attend such a valuable, interesting interpretation of genomes using in severe sepsis by mapping context and informative event. biological networks”. specific expression Quantitative I am in the final year of my PhD, Trait Loci (eQTL). It was great and my research uses a functional to discuss my work with other genomics approach to identify scientists in similar fields. genetic determinants of the human I also found two of the sessions, response to infection in a number of entitled “Genetic variation in gene patient cohorts. In particular, I am expression” and “From eQTLs to
36 . GENETICS SOCIETY NEWS . ISSUE 70 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 37
23rd European Drosophila Researchers Conference 16th – 19th October, 2013, Barcelona
Sara Clohisey . The University of Edinburgh
he 23rd European Drosophila as a model for human cancers and it was spread over two days. TResearchers Conference was held by Professor Cayetano González. From this session, a short talk was in Barcelona, Catalonia this year. Eventually, the first day was given on tissue mechanics in growth This biannual event has enabled completed with a welcome drink control of the Drosophila wing, which Drosophila researchers from all career and some catching up with former explored how cell shape is determined stages of Europe to come together, colleagues while being introduced to by position and proliferation rate collaborate and share ideas. new ones, held in the pool area of the in the wing disc. Subsequently, the This years event was no exception and complex. neurobiology and behaviour session with over 700 delegates presenting The next three days were an exciting also piqued my particular interest over 300 posters, from 41 countries, it mix of three parallel sessions with keynote talks from Professor was an exciting and varied meeting. punctuated by plenary lectures Mani Ramaswami from Trinity College Dublin, who spoke on his lab The conference was held over four from respected scientists such as Professor Trudi Schupbach speaking work on the mysterious mechanisms days. During the first day, some that underlie habituation. delegates settled in with specialist about follicle cell patterning and workshops on subjects such as The differentiation. Poster sessions were Afterwards, Dr. Marcus Stensmyr Biomechanics of Development and held in the evenings, which allowed us gave a fun and memorable talk on Cold Blooded Cancer, followed by to present and to be enthralled by the Drosophila laying preferences. a plenary lecture given by Nobel excellent Drosophila research carried This meeting was a fantastic place to Laureate Professor Jules Hoffman out throughout Europe. meet Drosophila researchers from all on exploring the use of Drosophila I attended the session on over Europe and to share ideas. I am in studying innate immunity. This morphogenesis and organogenesis, very grateful to the Genetics Society lecture was, in turn, followed by an which was clearly the largest and UK for providing me with the means enlightening lecture on Drosophila most varied section of the meeting, and the opportunity to attend.
The three days were an exciting mix of three parallel sessions punctuated by plenary lectures from respected scientists such as Professor Trudi Schupbach speaking about follicle cell patterning and differentiation. Poster sessions were held in the evenings, which allowed us to present and to be enthralled by the excellent Drosophila research carried out throughout Europe.
www.genetics.org.uk . 37 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 38
Elvira Nikalayevich . Wellcome Trust Centre for Cell Biology. University of Edinburgh
s a final year PhD student I I presented my research project scientists while enjoying a bit of Awas looking for an opportunity at one of the poster sessions and October sun. to present my project, meet other received some helpful comments and I would like to thank my supervisor scientists from the field, and look made new acquaintances. Hiro Ohkura, The Darwin Trust of for the future work prospects. The Overall, the experience was very Edinburgh, The Wellcome Trust European Drosophila Conference positive and helpful as I managed and the Genetics Society for giving seemed to be very suitable for my to get a better view of the work me the opportunity to conduct and tasks as it is a very large meeting of being done in the area, discussed present my research. fruit fly scientists that are interested my research and the work of other in a big range of topics. A 3-hour flight magically transported me and my colleagues from wet freezing Edinburgh to mellow relaxed Barcelona. We had a couple of hours to find our way around and explore the city before following a trail of Drosophila images and entering a grand-looking building. The first day of the conference was highlighted with the International Union of Biochemistry and Molecular Biology Award to Jules Hoffmann followed by two keynote lectures and a Welcome Drink by a swimming pool. The next two and a half days were intense, filled with remarkable talks and posters covering a vast range of topics such as morphogenesis, genetics and epigenetics, cell polarity, signalling, cell cycle, size control, stem cells and models of human diseases. I was particularly interested in epigenetics and cell cycle sections.
The days were intense, filled with remarkable talks and posters covering a vast range of topics such as morphogenesis, genetics and epigenetics, cell polarity, signalling, cell cycle, size control, stem cells and models of human diseases.
38 . GENETICS SOCIETY NEWS . ISSUE 70 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 39
Meiosis meeting 2013 14th – 19th September, 2013, Dresden
Ines Kovacikova . University of Vienna. Austria
uring my PhD I worked on my project with specialists and got Poster sessions were arranged Dmeiosis using the yeast new ideas. Many of these successful during the afternoons of two days. Schizosaccharomyces pombe as people I knew only as authors of the In this context, I had the chance to model organism. To take part on papers I read during my PhD. Thus, it present my results and got useful this important meeting I applied has been an unforgettable experience and informative comments or ideas for Junior Scientist Travel Grant to talk to them personally. about my project. Moreover, it was offered by Genetics Society, and I One particular highlight was a session an opportunity to see the work of am enormously thankful that I was on “Meiotic quality control and many other scientists and engage in awarded by this grant. feedback mechanisms”. In particular, interesting conversations about their The meeting was well organized and one talk of this session gave more topics. the talks were very informative and insight about brand new discoveries Overall, the meeting was educative presented on a high scientific level. in the field of prenatal diagnosis. and it was a good experience for During talks and coffee breaks I In addition, I have also chosen a my scientific career. I could make could ask relevant questions to great session based on the recombination contacts with many researchers scientists working in the same field initiation, not only because my working on similar topics. as me. research project focuses on meiotic Furthermore, I was offered a position As the time given for talks and the recombination, but also because I for my future. time for breaks was in the right wanted to hear new achievements balance, I had enough time to discuss about this interesting topic.
The meeting was well organized and the talks were very informative and presented on a high scientific level. During talks and coffee breaks I could ask relevant questions to great scientists working in the same field as me. As the time given for talks and the time for breaks was in the right balance, I had enough time to discuss my project with specialists and got new ideas.
www.genetics.org.uk . 39 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 40
Conference on Transposition and Genome Engineering 18 – 21 September 2013, Budapest, Hungary
Joseph Yeoh . Queen Mary University of London
ungary: A country rich in history, element proteins, as well as the role of Transfer: Transgenesis and Gene Htradition and culture. It was epigenetic regulation on transposable Therapy”. As the title suggests, the in this country’s beautiful capital, elements. It highlights how much presentations were about using the Budapest, that the 2013 Conference we have learned about transposable gene delivery systems and moving on Transposition and Genome elements since the early days of them beyond the laboratory into Engineering took place. Scientists Barbara McClintock and her studies clinical applications. This session from all over the world flocked to on maize. highlights the importance of present, discuss and interact with one The main thread of the next session, applying basic scientific research another at this prestigious conference. “Gene Discovery with Transposon and discoveries and bringing them The conference started with a warm Tools”, was the usage of transposons from the laboratory into the clinic to welcome address from the conference to generate mutations in order to benefit humanity. chair, Zoltán Ivics. Next, Mario discover the function of genes. Having I was grateful for the opportunity Capecchi, who won the 2007 Nobel the genomic sequence of an organism to present my research project in Prize in Physiology and Medicine, is great, but without knowing the the poster session, titled “Artificial gave an inspiring keynote lecture on function of each gene, we would not Horizontal Transfer of Mobile DNA” “Gene targeting into the 21st century: be able to utilize that information. in the poster session. The focus of my mouse models of human diseases Generating mutants with different poster was on why and how certain from cancer to neuropsychiatric methods of mutagenesis remains transposable elements reach a high disorders”. Homeobox genes play the best way to do this. With our copy number in a genome while other an important role during the current understanding and as new elements do not. I also highlighted development of embryos. He showed technologies become available, we will the unique phenotypes and genotypes that by introducing a fusion gene into be able to elucidate the role of many of different strains of Drosophila mice and changing the expression more different genes in the genome. melanogaster that I generated. The pattern of the homeobox gene, it Zinc finger nucleases, TALENs poster was well received and further altered the behaviors of the mice. and other gene delivery systems provided me with an opportunity to Thus, this system can be used as to produce targeted genome discuss my research and interact with a model to study sarcomas and modifications were the focus of the experts in the field. certain human obsessive-compulsive next session, “Genome Engineering On the final evening of the conference, disorders. with Designer Nucleases”. The pros we were treated to a boat cruise along The conference was divided into for using these nucleases are that the Danube River and the in-cruise four main sections with various genetic elements can be specifically entertainment was a presentation researchers presenting their delivered to target regions in the of traditional Hungarian folk dance! work. The first session was on genome and modify genomes It was wonderful to watch such an “Transposon Biology, Epigenetics and precisely. However, there are still energetic performance with the Reprogramming”. The presentations problems with off-target cleavage. night landscape of Budapest as the ran the gamut from the usage of With better designs of the nucleases, background. The whole conference the transposon Sleeping Beauty this technology can only keep getting was a wonderful experience and I felt in a mixture of applications to the better and better. culturally enriched and scientifically characterization of transposable The ultimate session was “Gene enlightened.
40 . GENETICS SOCIETY NEWS . ISSUE 70 41 HEREDITY FIELDWORK GRANT REPORT
In search of French populations of Alyssum serpyllifolium – an exemplary nickel hyperaccumulator species
Maria K. Sobczyk . Department of Plant Sciences, University of Oxford
ne of the most interesting The majority (~80%) of which contains populations of Oplant adaptations described is hyperaccumulator plants are known unresolved phylogenetic status and hyperaccumulation of transition to hyperaccumulate nickel and 90% showing marked differences both metals. In contrast to metal of them are endemic to serpentine in their nickel accumulation and excluders, whose strategy is to soils. As ability to accumulate tolerance ability. Its distribution control the uptake of metals into the metals is such a rare trait, only 2% range is centred on the Iberian root and prevent metal translocation of serpentine flora consists of nickel Peninsula (approx. two-thirds of its to aerial organs, hyperaccumulators hyperaccumulators, the rest made area), where all of known serpentine accumulate metals in the shoot to up of “ordinary” metal-tolerant islands hosting hyperaccumulator levels toxic to other plants. This is species. About 418 species of nickel populations are scattered in the remarkable since the photosynthetic hyperaccumulators have been north and south. Non-serpentine apparatus is the major target of identified to date and interestingly, a populations are further distributed transition metal phytotoxicity, quarter of known hyperaccumulators across limestone-derived, recently mostly a consequence of reactive are crucifers. Examples of disturbed soils and in the south oxygen species generation and non- hyperaccumulation are found in 10 of France. Rare herbaria material specific binding to enzyme functional of Brassicaceae tribes, supporting exists with origin in Morocco. The groups. Hyperaccumulator species multiple independent origins objective of my fieldwork was will contain at least two orders of of the hyperaccumulation trait, to gather samples from the well- magnitude more of the metal in their while the genus richest in nickel established French populations shoot dry biomass compared to a non- hyperaccumulators is Alyssum. of Alyssum serpyllifolium, which hyperaccumulator. However, little is known both would complement my lab’s fairly For example, a typical non- about the molecular mechanisms comprehensive collection of Iberian hyperaccumulator plant has underlying hyperaccumulation specimens. nickel content of 0.1 mg/kg dry trait and its evolutionary history in My first stop on the field trip biomass and to be classed as a the genus. As to the first point, so to France in October 2013 was hyperaccumulator it needs to far histidine has shown to be very Malaucène, located in southeastern have a shoot nickel content of at important for detoxifying nickel France in the Provence-Alpes-Côte least 1000 mg/kg dry biomass – a by chelation, also in facilitating d’Azur region. Previous botanical concentration well above the critical loading of nickel into the xylem surveys showed sites on a road toxicity threshold of 10–50 mg/ and its transport to the shoot. As to leading up to Mont Ventoux (at kg for other plants (Kramer, 2010). the second, phylogenetic analysis 1,912 m also known as the Giant This property led to active applied has shown the existence of a single of Provence), one of the steepest research into hyperaccumulation for clade containing all and almost climbs during Tour de France race phytoremediation and phytomining exclusively hyperaccumulator and purportedly first ascended in purposes. A number of competing Alyssum species and whose origin modern era by the famous sonnetist hypotheses regarding the adaptive is strongly associated with a Petrarch. Due to over-grazing and value of this complex trait have significant acceleration in net species deforestation, Mont Ventoux’s lower been put forward and anti-herbivore/ diversification rate. slopes became a highly disturbed pathogen effect especially has been My own research focuses on Alyssum habitat by the middle of the 19th confirmed in many taxa. serpyllifolium species complex, century, when a successful program
www.genetics.org.uk . 41 HEREDITY FIELDWORK GRANT REPORT 42
of tree planting began, now having resulted in the highest forest density in the département. As expected, no Alyssum was found in the cool shady microclimate provided by the forest canopy. Only having ascended about 850 m above sea level, did I find the first signs of Alyssum. The plants were concentrated on the poor rocky soil along the road and also on slopes with more advanced level of succession. Despite being late in the season, about 10-20% of silicles were still not emptied (see figure) and so I managed to collect samples from 42 plants (mother plant plus its seeds in the majority of cases) over a two-day period. I then moved about 170 km to the southwest from Malaucène to Bédarieux in the neighbouring region Malaucene site 3 Alyssum serpyllifolium Languedoc-Roussillon, where I stayed to explore areas in the vicinity of outcrops lining local roads and areas such as level and direction of gene former mines. A visit to a hill with bordering centers of ongoing mining flow amongst them and various a former bauxite open-pit mine activity. Alyssum serpyllifolium Iberian populations to shed light brought nothing, despite confirmed appeared rarely in clumps but more on the mode of origin of the observations in recent years – often as separated individuals and in hyperaccumulator trait in the however, the areas explored seemed total collection of 20 individuals was species. I have also been employing too shaded and moist to support made. next-generation sequencing methods Alyssum. Having returned to Oxford a to identify genes undergoing The second day, when I inspected week ago, I am now beginning to selection in the species complex the vegetation in the earlier stages make good use of the collected based on different populations’ of succession along the road material. Seeds from big bulk transcriptomes; sequence and surrounding the still-operating collection will now be used in a expression of such target loci will be Carlencas bauxite mine, proved hydroponic experiment to assess surveyed in the French populations much more successful. There, it was nickel hyperaccumulation ability as well. Alyssum galore with Alyssum heads and tolerance. It will be interesting I would like to thank the Genetics full of seeds greeting me everywhere. to see if I can find any variation Society for providing me with I quickly met my goal of collecting amongst the French populations generous financial backing to 42 separate mother plants and their of the magnitude that we found in conduct this fieldwork. Field progeny that day. The final trip took the Iberian ones given interesting, sampling would have been impossible me 85 km northeast to Anduze, where possibly metal-polluted environments without Alyssum serpyllifolium I was looking to collect samples from they were found in; soil samples localities provided by Dr José Escarré a population situated roughly in taken at each location will allow (CNRS, Montpellier). Last but not the middle between Malaucène and me to test this. Furthermore, all least, I am thankful to my DPhil Bédarieux. Anduze is located in a the individual plants sampled will supervisor, Prof. J.A.C. Smith, for the mining region like Bédarieux, albeit be genotyped using microsatellites opportunity to work on this project harboring rich lead-zinc deposits in to establish the populations’ recent and his continuous support. this case. There, I inspected rocky demographic history parameters,
42 . GENETICS SOCIETY NEWS . ISSUE 70 43 TRAINING GRANTS
An experience in communicating science
Dr Simon Bishop . University of Birmingham
The Naked Scientist
ast April, I attended Little did I know at that point that, 6 personnel — the other, my Naked Lthe Genetics Society months later, I would join the Naked Scientist colleague Dr Kat Arney. Communicating Your Science Scientists to answer live, unscripted Kat and I spent the event scouting workshop at Chicheley Hall. The questions from the public for an for stories, and — in a first for me three day event taught twenty eager hour on BBC Radio Norfolk. This — interviewing speakers hot off PhD students and postdocs the ins occurred on the very first day of a the conference stage. This allowed and outs of scientific storytelling Genetics Society-funded internship me to pursue two projects: first, and writing for a range of audiences with the radio team. to research and begin recording a and media, and challenged us The next two months offered documentary feature entitled ‘The to record a live 15 minute radio experience in broadcasting, as Naked Scientists Guide to Genetics’. programme with less than 24 hours interviewer and interviewee, Second, the concept of the autumn to prepare. as script-writer, researcher and meeting formed the basis of a Cast as the scientific expert amidst presenter on local, national and planned show, scheduled for the members of the public, discussing international radio and via a 15th December, for which I had full their views on personal genome highly popular series of podcasts. responsibility. One hour of BBC sequencing to a reporter on the Topics were many and varied: I airtime was down to me, and with streets of Milton Keynes, my role in described advances in genetics the backing of the Naked Scientists our quarter hour “Happy Birthday and neuroscience; learnt of how and the Genetics Society, I was DNA!” show was to provide a we can determine ancient climate determined to fill that time with reasoned argument on the ethics of conditions by studying plankton; key figures and findings from the such technology. It was all a ruse — and was tasked with describing world of genetics. Interviews were I am no such expert, and ‘the streets Einstein’s Theory of Special recorded, guests were convinced of Milton Keynes’ were in fact the Relativity live on BBC Radio to join us live in the studio, and all Chicheley Hall car park, in rural Cambridgeshire’s Drive programme, that I had learnt came down to that Buckinghamshire, complete with in advance of the 50th anniversary broadcast. birds tweeting in the background. of Doctor Who. With each project I am grateful to the Genetics Society The programme was an exercise I had the opportunity to plan, for funding me through such an to learn of the language required structure and consider the key experience. The skills obtained will to communicate to the public, of messages and how best to convey prove invaluable throughout my the structures of storytelling, and them. I am now extremely familiar career in science, and as I pass the of the practicalities of packaging with the sound of my own voice. baton to the next supported intern, live and pre-recorded content into The Genetics Society also kindly I can only urge all researchers to a broadcast. The recording was invited me to attend the Autumn pursue outreach opportunities. Not facilitated and hosted by the Naked Meeting ‘From Genes to Shape’ only is it crucial to communicate Scientists, a radio group based at as one of two resident media our science, but it is fun too! Cambridge University.
To find out more about the Naked Scientists, visit www.nakedscientists.com
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In vitro prioritisation of mutants discovered through genotype-driven ENU archive screen of Ankyrin-G
Eleanor Hobbs . MRC Harwell, University of Oxford
Dorothy M. Davis Heart and Lung Institute, Ohio State University Medical Centre
chizophrenia is a complex mental domain and C-terminus. It is required Ohio State University. Professor Sdisorder with a multifactorial for clustering of voltage-gated Na Mohler has been working on ankyrins aetiology which is not yet fully under- channels at axon initial segments and for over ten years and is a world stood. Schizophrenia disorder (SCZD) for normal action potential firing, expert in the field of their structure is a non-affective psychotic disorder and cerebellum-specific knockouts and molecular mechanisms. His group distinguished by positive symptoms, show progressive ataxia and Purkinje uses a 190-kDa rat Ank-G construct negative symptoms and neurocogni- cell deficiency. This does not make a with a GFP tag to study the effects of tive problems with memory, attention good model for schizophrenia endo- mutations in wild-type and AnkG-null and executive functioning. SCZD is phenotypes, as we cannot be sure neonatal cardiomyocytes. now thought to be primarily neu- that phenotype is due to direct effects While visiting the laboratory I was rodevelopmental in origin and has against such a severe background. trained in neonatal cardiomyocyte a known genetic component; twin At MRC Harwell, a powerful chemi- isolation and culture and their sub- studies show that schizophrenia has cal mutagen N-ethyl-N-nitrosourea sequent lipofectamine transfection. a 73-90% heritability although the dif- (ENU) is used routinely to induce I also assisted with fixing these cells ferences between monozygotic twins point mutations in spermatogonia of and immunofluorescence to compare imply an important environmental large numbers of male mice, which localisation of ankyrin constructs and effect. It is becoming clear that schizo- are crossed with wild-type (wt) female sodium channel binding partners. I phrenia has an overlapping genetic mice. Male F1 progeny have a tissue carried out site-directed mutagenesis aetiology with other disorders such and sperm sample frozen to create an under the direction of Dr Faith Kline as Borderline Personality Disorder archive which I have screened using to introduce my three mutations into (BPD) and autism. Recently mutations exon-specific PCR. the 190-kDa Ank-G-GFP construct, in single genes have been shown to After screening and verification by and these are currently being trans- predispose individuals to SCZD, but it Sanger sequencing, I had found three fected and imaged by Dr Patrick is likely that it is the inheritance of a mutations; two in the spectrin-binding Wright. These cardiomyocytes will combination of common variants that domain (N1046S and D1056G) and also undergo patch clamping and cal- cause this vulnerability. another in the death domain (V1446A). cium transients testing to study their Recent genome-wide association The next step is to prioritise these mu- electrophysiological properties. I am studies have implicated several genes tations using in vitro assays to decide now preparing to prioritise one or two in the aetiology of SCZD. One result which to re-derive in the mouse. This of the mutations and re-derive mouse was ANK3, which encodes ankyrin- is technically difficult as ankyrin-G is lines which will then be phenotyped G, a scaffolding protein found at the very large and the membrane channel and behaviourally characterised to axon initial segment. Ankyrin-G binds binding region is extremely repetitive. identify any schizophrenia-related membrane channels such as car- In October 2013 I visited Professor Pe- endophenotypes. diac Nav1.5, spectrin (a cytoskeletal ter Mohler’s laboratory at the Dorothy protein) and has a regulatory death M. Davis Heart and Lung Institute,
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Protein-Protein interactions at Imprinting Control Regions
Student Matthew Timmins, King’s College London . Supervisor Professor Rebecca Oakey
ost genes are expressed from thalassemia/mental retardation demonstrates that a third of CTCF Mboth parental alleles. A subset syndrome X-linked) and MeCP2 and Cohesin binding sites coincide. is expressed from only one, either (Methyl CpG binding protein MeCP2 and ATRX have previously the maternal or the paternal, and 2) interact with one another at been shown to interact with Cohesin these are termed imprinted. Genomic ICRs. These proteins are widely at two known ICRs including the imprinting provides a premier conserved, and when mutated, lead H19/Igf2 ICR. However, MeCP2 is model for the study of epigenetic to neurodevelopmental disorders known to bind extensively and with gene regulation. A distinguishing including Rett syndrome (MeCP2), high affinity to methylated DNA, regulatory feature of imprinted genes Alpha-thalassemia X linked mental and, therefore, our understanding of is differential DNA methylation retardation syndrome (ATRX) interactions between CTCF, Cohesin, between parental alleles. Regions of and Cornelia de Lange syndrome ATRX and MeCP2 is unclear. Two differential DNA methylation that (Cohesin) highlighting their essential proposed models of how these have been experimentally proven to biological function. proteins could be interacting control imprinted gene expression Published evidence from the are “The Differential Binding are termed the imprinting control extensively studied H19/Igf2 Model” and “The Imprinting-Super region (ICR). Numerous molecular imprinted locus demonstrates that Complex Model”. In both models, mechanisms are involved in relating CTCF binds to the unmethylated differential protein binding between differences in DNA methylation at allele at the ICR resulting in the alleles allow for allele-specific the ICR to imprinted gene expression imprinted gene expression. gene expression. The “Imprinting including the binding of DNA Cohesin and CTCF are known Super-Complex Model” suggests binding proteins. to bind together at imprinted that all the proteins of interest form This Genes and Development loci and genome-wide chromatin a single large complex binding to Summer Studentship focused on immunoprecipitation high the unmethylated allele whereas how specific DNA binding proteins, throughput sequencing (ChIP-Seq) the “Differential-Binding Model” namely CTCF (CCCTC-binding data generated in the mouse brain suggests binding of a MeCP2- factor), Cohesin, ATRX (Alpha- by Professor Oakey’s laboratory ATRX complex to the methylated
The studentship provided a fantastic opportunity to gain key lab skills and experience of working in the research environment. The project has helped consolidate my desire to work in research.
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The only published endogenous co-immunoprecipitation of Rad21 and CTCF has been achieved in lysis from cell lines, and therefore lysis from a mouse fibroblast cell line was trialled. Immunoprecipitation of Rad21 from the cell line did not co-precipitate CTCF, resulting in a high background.
allele and CTCF-Cohesin complex from cell lines, and therefore lysis Summer Studentship for funding this to the unmethylated allele. from a mouse fibroblast cell line project. The studentship provided This studentship aimed to take was trialled. Immunoprecipitation a fantastic opportunity to gain key the first steps in the molecular of Rad21 from the cell line did not lab skills and experience of working characterization of these potential co-precipitate CTCF, resulting in a in the research environment. The protein-binding complexes through high background. project has helped consolidate coimmunoprecipitation experiments Overall protein-protein interactions my desire to work in research. to complement genome-wide ChIP- were not successfully characterised My thanks and gratitude go to Seq data currently being generated in this pilot study. However, as Professor Oakey and all members for MeCP2 and ATRX in the mouse described by Klenova and colleagues of the Epigenetic Group for all brain. (2002), co-immunoprecipitation can their generous help and support, Western blot analysis was optimized be “technically challenging and not especially Siobhan Hughes. A thank for the four proteins (or subunits) always yield a successful outcome”. you also goes to Christian Landles of the Neurogenetics group at King’s of interest from whole mouse brain. Nevertheless, the findings Cohesin subunit Rad21 was chosen College London, for his help and from these preliminary advice. to be the focus for optimization of results and moreover the immunoprecipitation. A range of developed methodology from lysis conditions, antibodies, bead both tissue samples and cell resin, lysate and antibody quantity lines provide a good basis for were trialled. future co-immunoprecipitation Through extensive optimisation, optimisation suited to the proteins robust immunoprecipitation of Rad21 of interest. Other laboratory in a range of lysis conditions was members are taking this work achieved in the mouse brain, but further. Future optimisation in CTCF was not co-precipitated. Cross- combination with consideration of linking of lysate using formaldehyde ChIP-Seq results will provide insight was attempted to try and preserve into the mechanisms underlying protein-protein interactions but the associated neurodevelopmental led to a high background with syndromes, as well as more broadly multiple non-specific bands. into genome-wide epigenetic The only published endogenous regulation of gene expression. co-immunoprecipitation of Rad21 I would like to thank the Genetics and CTCF has been achieved in lysis Society Genes and Development
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A forward genetic screen for mutants defective in the temperature sensing pathway in Arabidopsis thaliana
Student Viviana June . Supervisor Dr Phil Wigge and Dr Seong Jeon Yoo, University of Cambridge
lants are incredibly sensitive easy to measure the activity of Ler) plants and Ler HSP70::LUC. Pto changes in temperature. HSP70 by measuring Luciferase Crossing to Ler allows the They are able to react to change as expression. This method allows mutation to be mapped by small as 1°C, which has significant the output of the temperature- quantitative trait locus mapping, implications in agriculture. It sensing pathway to be detected, as there are polymorphisms is expected that crop yields will and so plants with mutations in between the Col and the Ler drop 10% for every 1°C increase the temperature-sensing pathway genome. Both Ler HSP70::LUC and in temperature. However, the can be identified. The HSP70::LUC WT Ler are used because while pathway that plants use to assay has helped identify more mutants that have both detect temperature is still poorly some genes in the temperature the HSP70::LUC construct and understood, as it is difficult to sensing pathway, such as the mutation can be obtained through identify plants that are defective H2A.Z nucleosome variant that crosses to Ler HSP70::LUC, certain in the temperature-sensing coordinates changes in the mutations can only be mapped pathway. While there are some transcriptome in response to an using crosses to WT Ler. This is phenotypes, such as a long increase in ambient temperature. because the HSP70::LUC construct hypocotyl, that are associated The aim of this project was was introduced to Ler plants by with plants grown at higher to begin mapping mutations crossing them to Col HSP70::LUC temperatures, these phenotypes identified in a forward genetic plants, and, then, backcrossing can be difficult to identify, screen for A. thaliana mutant the progeny so that plants that making large scale genetic screens strains defective in the have a mostly Ler genome, with challenging. temperature-sensing pathway. the HSP70::LUC construct, are Recently, the Wigge group Before I joined the lab, A. thaliana obtained. However, this means developed an assay to help plants from the Columbia that there is a region of Col identify these plants, making it (Col) ecotype containing the background near the construct, possible to identify genes involved HSP70::LUC construct were making mutations in this region in this pathway. To develop mutagenized using ethyl difficult to map when using a this assay, the lab studied the methanesulfonate (EMS). The cross to Ler HSP70:LUC. transcriptome of A. thaliana at plants were screened using the I began my eight-week research both high and low temperatures, HSP70::LUC assay, and those that project by screening the F2 and found that HSP70 expression showed either higher or lower generation of these crosses. This increases strongly with an luciferase expression than the began by sowing 96 F2 seeds from increase in ambient temperature. control plants were selfed until each cross (along with 16 seeds By transforming plants with a they reached the M3 generation. of the control, Ler HSP70::LUC, construct containing a fusion The M3 mutant lines were then which had not been crossed to of the HSP70 promoter and crossed to two different plants: a mutant) and allowing them to Luciferase (HSP70::LUC), it is wild-type Landsberg erecta (WT grow at 16°C. After eight days, the
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seedlings were transferred to a lit 100 plants are needed to begin which genes they were in, thus 27°C growth chamber for one hour. mapping the mutation. providing a better understanding The seedlings were then sprayed Once a sufficient mapping of the components of the with luciferin and photographed population had been built up for temperature-sensing pathway. to record luciferase expression. several lines, DNA was extracted I am grateful to the Genetics The seedlings were then returned from the population. DNA was Society for funding this study, to the 16°C growth chamber pooled for each line and genotyped which allowed me to gain research overnight and the next day, moved at 18 loci throughout the genome. experience. I would also like to to a dark 27°C growth chamber. The plants were genotyped using thank Dr Phil Wigge for providing After one hour, the seedlings primers for simple sequence me the opportunity to work in were sprayed with luciferin length polymorphisms (SSLPs) his lab and Dr Seong Jeon Yoo and photographed to record that are found between Ler and for teaching me many of the luciferase expression. The Col plants. We used these data to techniques I used to carry out seedlings were then returned to determine which microsatellites the experiments. Finally, I would a 12°C growth chamber for two were in linkage disequilibrium like to thank James Roberts, days, then sprayed with luciferin with the mutation. We then another intern in the Sainsbury and photographed once more to followed up the pooled mapping lab who carried out the mapping record luciferase expression. The by genotyping all individuals experiments with me. photographs were then analysed for microsatellites that showed to determine if the mutant linkage disequilibrium. If mapping phenotype was segregating. We the individuals confirmed the looked for mutations that were linkage disequilibrium seen in segregating as recessive mutations the pooled mapping, the plants in the nuclear genome. were then genotyped with primers From the crosses that showed a for SSLPs near the candidate normal segregation pattern, plants microsatellite to narrow down the with the mutant phenotype were possible location of the mutation. transplanted into soil. About Over the summer, another intern twenty were initially transplanted and I screened 47 different lines per cross as this is the number using the HSP70::LUC assay and of plants per cross we expect to built up a mapping population carry the mutant phenotype. for eleven lines. We began rough More screenings were carried mapping on these lines, and were out so that lines that showed able to map the mutation to a good segregation, and a strong chromosome arm for four of these phenotype, had about 100 plants lines. The lab will continue to map transplanted into soil, as at least these mutations and determine
The plants were genotyped using primers for simple sequence length polymorphisms (SSLPs) that are found between Ler and Col plants. We used these data to determine which microsatellites were in linkage disequilibrium with the mutation.
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Suppressor screen in C. elegans to identify regulators of Joubert syndrome-associated arl-13
Student Anthony McCarthy . Supervisor Dr. Oliver Blacque, Conway Institute, University College Dublin
ost eukaryotic cells possess a conserved in worms. fluorescent dye (DiI), dye is taken Mhair-like microtubule-based My project focused on identifying up by 16 sensory neurons via their extension on their cell surfaces called genes that regulate the function environmentally exposed cilia. a primary cilium. Cilia serve multiple of a small ciliary GTPase, arl-13, This assay allows cilia structure motility and sensory functions, which is the orthologue of Joubert to be indirectly assessed as worms including the transduction of syndrome-associated ARL13B with ciliary defects typically fail to developmental signalling events such (ADP-ribosylation factor-like 13B). incorporate DiI. In arl-13 mutants, as that induced by sonic hedgehog. Previous work in the lab has shown dye uptake is reduced, consistent Central to cilium formation and that the ARL-13 protein associates with the cilium structure defects function is intraflagellar transport, with the ciliary membrane and in this strain. Thus, the goal of this which mediates movement of regulates IFT. As a GTPase, it is project was to find mutations in cargo molecules such as signalling assumed ARL13B/ARL-13 is subject another gene that can restore dye- proteins along the ciliary axoneme. to positive and negative regulation filling to wild-type levels. Defects in cilia are implicated in a by proteins such as Guanine However, early on in the project, range of human diseases known as Nucleotide Exchange Factors we realised that low levels of dye- ciliopathies, including polycystic (GEFs) and GTPase Activating filling can be observed in some arl-13 kidney disease, retinitis pigmentosa Factors (GAPs), respectively. To mutant individuals, and these worms (blindness) and situs inversus (organ date, however, such factors have would confound the identification patterning disorder). Ciliopathies not been identified for ARL13B/ of true suppressors under a also include multi-symptomatic ARL-13 in any system. To address fluorescence dissecting microscope. syndromes, including Bardet-Biedl this issue, I performed a forward Instead, it was decided to screen syndrome, Meckel syndrome and genetic screen to find second site worms that possess mutations in arl- Joubert syndrome, which include mutations that suppress the ciliary 13 and a genetic interactor, K04F10.2. additional phenotypes such as defects associated with mutations K04F10.2(tm1830) single mutants obesity, mental retardation and bone in an in-frame hypomorphic allele are dye-filling normal, whereas arl- abnormalities. Presently, more than (tm2322) of arl-13, which retains the 13(tm2322);K04F10.2(tm1830) double 100 genes are associated with human entire GTPase domain but loses most mutants are fully dye-fill defective. ciliopathies. of the extended C-terminal tail. This Therefore in the revised screen, The nematode Caenorhabditis elegans type of hypomorphic mutation is a identified suppressors could be due is a widely used cilia research model good candidate for suppression. For to suppression of tm2322 or tm1830. organism. Worms possess sensory example, a mutation in a negative An F2 recessive screen was performed neurons terminating in primary regulator of arl-13 (e.g., a GAP) may by mutagenizing double mutants cilia used to detect the external lead to an increased arl-13(tm2322) using ethyl methanesulfonate (EMS) chemical, osmotic and temperature activity. to induce point mutations. After environment. Remarkably, The phenotype targeted in the recovery, P worms were allowed to most known ciliogenic (such as 0 suppression screen was dye-filling. produce offspring to F2 generation Intraflagellar Transport homolog, When worms are submerged in and subsequently screened non- IFT) and ciliopathy genes are a solution of non-toxic lipophilic clonally (as a population) for
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candidate dye-filling suppressors. A total of 3000 haploid genomes were Investigation into the screened over a period of six weeks. Two worms on a single plate transfer of a novel showed notable dye-filling and the improved dye-filling integron-like element, phenotype was seen in all subsequent generations. Careful quantification of the phenotype associated with UV- through image analysis revealed dye-filling was not restored to the resistance and DNA repair level of wild-type worms or the K04F10.2(tm1830) single mutant. in Pseudomonas Instead, the level of dye-filling in the candidate strain was closer to that of arl-13 single mutants, Student Nikolaus Muldal . Supervisor Dr R Jackson, University of Reading indicating possible suppression of the K04F10.2 mutation, and not the arl-13 mutation. This may obile genetic elements (MGEs) on both chromosome and plasmid indicate that the screen has found Mare segments of DNA that can genomes of pseudomonads, hence, a functional regulator of K04F10.2, move within and between genomes the potential for horizontal gene which encodes a protein enriched of a variety of organisms. MGEs transfer. The presence of rulAB on at the base of cilia (Blacque can spread rapidly and widely plasmids makes it easy to study lab; unpublished observations). between and within bacterial transfer of ILEs into rulAB using Alternatively, the suppressor communities, conferring a range of mating experiments involving mutation may be intergenic, genetic traits. conjugation. located within the arl-13 or A novel integron-like element Previous data showed that the K04F10.2 genes themselves. Future (ILE), found using bioinformatics, ILE inserts into plasmid rulAB work using crossing strategies and is associated with the rulAB from a range of P. fluorescens genome sequencing approaches operon in Pseudomonas putida. environmental isolates in should reveal the identity of the The rulAB operon is controlled approximately 40% of cases. suppressing mutation. by the SOS response regulatory I furthered this work by I would like to thank Dr. Oliver system and confers UV-resistance. investigating the transfer of P. Blacque for allowing me this It is postulated that the novel ILE putida plasmid pWW0 [encoding opportunity to obtain valuable lab exhibits site-specific integration the rulAB operon] into P. syringae experience and for his assistance into the rulB gene, placing the strains to see if putative ILEs during the project. I would also ILE integrase (intI) gene(s) under would be captured. like to thank Anneke Sanders and the control of the upstream lexA The first task was to culture all those in the lab for their help repressor. When the SOS response and mate trp- P. putida with and support during the summer. is induced, the LexA repressor pWW0::Km lacking an ILE with I gained many invaluable skills is degraded, activating intI, and, two P. syringae strains, DC3000 and learned a great deal about thus, leading to potential gene and B728a. Growth on minimal how research is performed. I capture by the integron. medium selected against the trp- P. enjoyed my time greatly and it has The first aim of this project was to putida, and addition of kanamycin encouraged me to pursue a career investigate the transfer range of antibiotic selected for P. syringae in research. I am very grateful to the ILE between different species that had acquired pWW0. After the Genetics Society for making and strains of the Pseudomonas 3 days, sufficient growth was this research experience possible. genus. The rulAB operon is found observed; single colonies were
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identified and sub-cultured. Colony and Long rulAB. PCR using three several studies revolving around PCR analysis showed that for the different rulB reverse primers potential pathogenicity impacts. B728a strain rulAB disruption amplified up the fragments. Another experiment would use occurred at a frequency of 10% These were then cloned into E. quantitative real-time PCR to test compared with 36% frequency for coli plasmid vector pCR2.1 using if triggering the SOS response FH1 controls. Furthermore, the chemically competent DH5α cells causes de-repression of rulAB and presence of an ILE was confirmed and a blue-white colony assay for ILE transfer through degradation by using primers specific to rulA inserts. DNA from PCR-positive of LexA. and to an integrase gene on the white colonies was extracted and I thank Rob Jackson and Genetics ILE in 81% of cases, showing rulAB purified using a combination Society for giving me this disruption. This is a significant of mini-prep and gel extraction opportunity, which has given me result as it is the first description methods. BamH1 restriction digests insights into life as a researcher of this ILE transfer occurring in released the cloned fragments and strengthened my ambitions P. syringae, an important plant [with restriction sites added during to complete a PhD after my pathogen. the primer design stage]. The undergraduate studies. I was Those that showed rulAB digested fragments were inserted helped by all members of the disruption but were negative into a second digested vector, Jackson lab and special thanks go for ILE insertion suggest that a pBBRIMCS2, and transformed back to Amanda Livermore and Deepa different MGE may have inserted. into P. putida. Paliwal who answered the many Future work will entail sequencing These constructs, along with questions I had from general of these to characterise the further attempts to clone Short microbiology to molecular biology reason for operon disruption. rulAB, will be used in further techniques. Furthermore, results showed work by mating with P. fluorescens Lastly, I thank my project that DC3000 did not cause any described above. collaborators for their helpful rulAB disruption or ILE insertion, There are various future directions comments and giving me a wider suggesting that ILE transfer could for this work. If the new rulAB perspective on the project: Glenn be strain specific. disruptions show a new sequence Rhodes, Dawn Arnold, and Roger The second project aim was to with an ILE containing a Pickup. characterise the ILE insertion site. virulence gene, this would lead to In order to test the hypothesis that rulB is causal for integron mobilisation, three different P. putida constructs would be made by amplifying three different lengths of the rulAB operon: full- I thank Rob Jackson and length rulAB (Intact rulAB); rulAB truncated just after the predicted Genetics Society for giving me rulB insertion site (Long rulAB); and rulAB truncated just before the this opportunity, which has predicted rulB insertion site (Short rulAB). The latter fragments are given me insights into life as a the key constructs for determining if a functional rulB is required or researcher and strengthened my whether the insertion site alone is needed for ILE insertion. ambitions to complete a PhD Cloning was achieved for two out of three fragments: Intact rulAB after my undergraduate studies.
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Assessing plant host preference in A. agestis in a common garden environment
Student Sarah Skeels . Supervisor Dr. Jon Bridle, University of Bristol
limate change is having a historical and current geographical have been seen amongst specialist Cprofound effect on biodiversity distribution. species, which are restricted in due to its ubiquitous nature. In the UK, many butterflies have their habitat because they depend Responses to recent climate change shown range contractions over on particular host plants or other are well documented in butterflies, the last 30 years as a result of environmental conditions. This because the ecology of these animals habitat degradation and climate means that populations tend to be is often known along with their change. The worst declines (>90%) naturally fragmented across the
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landscape. These species do not only depositing eggs on the host added after analysis of transect have to cope with climate change, plant that is locally dominant, data collated by the UK Butterfly but also face land use changes usually the Common Rockrose. In Monitoring Scheme between 2008 which increases the difficulty of contrast, more recently-established and 2012. dispersal to suitable habitat. Unlike populations favour Geranium molle, As these individuals were collected many habitat specialists, the Brown regardless of this plant’s local from the wild, it is likely that Argus butterfly (Aricia agestis) has abundance. There also seems to be individuals varied with respect to extended its range northwards by reduced variation in host preference age and condition. To mitigate these more than 80 km (although recent in the newest parts of the range. effects, we visited each site several estimates suggest this could be It is thought that by shifting times throughout the season so that nearer to 150 km). preference to a more widespread we had adults of varying age. Previously, this butterfly was plant species, the Brown Argus is We hypothesised that there largely restricted to Helianthemum able to disperse more effectively would be variation in host plant nummularium (Common Rockrose), across fragmented landscapes preference within and between which is found in chalk grasslands. that would have previously been given populations. However, we Such specificity meant that a barrier to colonisation. In other expected populations with a shorter colonisation was mostly limited words, a change in preference has colonisation history to show less to the margins of these habitats. facilitated recent range expansion variation as this has already been Nevertheless, not all established across areas where rockrose is rare demonstrated in other studies. populations favour Helianthemum. but G. molle is not. Secondly, we predicted that Some, further south, favour plants A genetic analysis of AFLP markers established populations would tend from the family Geraniaceae, identified loci associated with to favour the host plant that was particularly Geranium molle differences in habitat type and host locally dominant, whereas recently (Dovesfoot Geranium), which in preference across the species range, established populations would general tends to be more widespread and that appeared to be under prefer G. molle irrespective of its across the UK because it is not selection. This indicated the shift local abundance. These expectations limited to calcareous soils. Likewise, to a more widely abundant host were based upon data from previous newly established populations tend plant is likely to be an evolutionary field trials. to be geranium favouring. response to ecological change. To assess preference, approximately Previous work in Jon Bridle’s lab My studentship focussed on 30 wild mated individuals were has focussed on assaying host assessing host plant preference in a collected from each site. The preference of free flying females common garden environment; where females were placed individually using quartets of experimental host female butterflies collected from into small metal wire cages (upside- plants across the species range. The eight sites from across the UK range, down shopping baskets) covered proportion of eggs laid on geranium and differing in terms of habitat with mesh cloth, containing H. relative to rockrose was calculated type and colonisation history, were nummularium and G. molle. The to determine female host plant brought to a single site for testing. cages were placed in a grassy preference. Most sites were chosen because they field and arranged in a grid layout This research has shown that have been used in the past, and so with metre spacing between them. preference tends to be associated this meant we had existing data on Females of different populations with geographical location. the annual occurrence of geranium were randomly distributed to In general, females from long- and rockrose as well as the density remove any potential effects of established populations prefer of Brown Argus. A few sites were varying environmental conditions
I was actively encouraged to ask questions and find resolutions to these problems.
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across the field. Data loggers from the wild mated females used Other work will focus on the were also put in selected cages in the host preference study, to investment individuals make in so that we could monitor and determine whether key life history particular traits relating to fitness, estimate temperature variation traits (such as size and dispersal) such as fecundity and dispersal across the field. Each female was measured in the adults of the ability. Often, there is a trade-off provided with two plants of each offspring generation had a heritable between these traits meaning that host species, which had been element, and if there were distinct an individual can invest in one grown in the greenhouse under differences between populations. but not the other. To study this, the same conditions, to account Unfortunately, it is notoriously traits will be measured throughout for intraspecific variation in host difficult to demonstrate narrow- the lifespan of the first generation plant quality. At the end of the sense heritability as a number of butterflies and will start once the experiment, these plants were assumptions must be considered. larvae pupate. The pupae will be sampled to see whether nutritional For example, females must mate weighed and, on emergence, the quality had an influence on host only once and should be unrelated to abdomen:thorax ratio of adult preference and the subsequent their mate. With our experimental butterflies (among other things) will growth and mortality of the larvae. set-up we can only estimate be calculated. These measures will Females were left in the cages for heritability in the broad sense. provide up-to-date information on three full sunny days so that they We also have to assume that there current investment and may help had the opportunity to lay eggs. We are no maternal effects, which as a one to predict future changes in then counted the number of eggs consequence, will inflate between phenotype. deposited onto each plant. These family variance. I wish to thank The Genetics Society counts provided a quantitative The larvae were kept at a constant for funding this studentship and measure of host preference and an 20°C and maintained in a 16:8 hour Dr Jon Bridle for giving me the estimate of fecundity. light dark cycle to prevent diapause. opportunity to work in his lab over To check that the estimates of host This meant that they did not the summer. preference were repeatable within overwinter as larvae but developed I am also thankful to the UK individuals, a subset of females directly into adults. The larvae were Butterfly Monitoring Scheme were returned to the cages. Females fed on a diet of G. molle leaves since (UKBMS) for their long-term data were returned if they had laid previous research has found that set on Brown Argus abundance, fewer than 20 eggs. We also put larvae develop better on this host as this was crucial for choosing back approximately 20 females with plant compared to H. nummularium. new study sites. I would also like moderate to high fecundity into The most likely reason is that G. to thank the various members of cages with a different location in the molle has greater nutritional value. Jon Bridle’s group for being so field and a new set of plants. Nonetheless, a subset of larvae supportive. In particular, I am very Preliminary results indicate that, was fed with Common Rockrose to grateful to Marie Curie Fellow Dr as expected, populations in the new see whether there was an effect on Maaike de Jong for her guidance and part of the range show a higher growth rate and mortality. expertise throughout the project. preference for G. molle, although In the future, DNA samples will be By working alongside world class further analyses are needed to extracted from experimental females academics, I have learnt to think determine whether the variation in (and their broods) as well as from outside the box. I was actively preference is lower in the new part wild caught individuals. encouraged to ask questions and of the range than in the established find resolutions to these problems. Both males and females will be I feel that I have become a better part. The results also indicate host considered for the latter. RAD plant preference is highly repeatable scientist as a result. Overall, I found sequencing will then be undertaken the whole experience enthralling (90%), suggesting there is a genetic on these samples. This analysis basis for this trait. and so I am even more determined will provide insight into population to pursue a career in academia. For the second part of my structure and the gene(s) involved studentship I reared the offspring in host plant preference.
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Investigation of mechanisms of collagen IV mutations in human disease
Student Stephanie Anderson Supervisor Dr. Tom Van Agtmael, University of Glasgow
INTRODUCTION to ER-stress and induction of This may increase our knowledge Collagen type IV is a major apoptosis. ER-stress is a response of the mechanism by which component of the basement initiated by the accumulation of mutations in Col4a1 can lead membrane, a specialised extra mis-folded proteins within the to common diseases such as cellular matrix (ECM) structure ER. However, the exact disease myocardial infarct. that provides structural support mechanism related to Col4a1/ Col4a2 mutations remains and influences cell behavior. AIMS Collagen IV is encoded by the unknown. genes Col4a1-Col4a6. The proteins While the role of Col4a1 has 1. To Generate a Col4a1 cDNA encoded by these genes form become more apparent for rare construct containing the individual alpha chains. In the familial forms of disease, its nucleotidic change that endoplasmic reticulum three role in common disease remains encodes the Col4a1 G1334H alpha chains combine to form one poorly characterized. Recently, variant collagen IV protomer. a particular variant of Col4a1 2. To investigate the mechanism The protomers are, then, secreted G1334H was found to be associated by which the Col4a1 G1334H from the cell into the ECM where with myocardial infarction in variant may contribute they interact with other collagen Japanese men, suggesting an to myocardial infarction IV molecules to form a larger important role for Col4a1 in by establishing its effects structural network. Mutations some common diseases. This on collagen secretion and in the genes Col4a1 and Col4a2 variant constitutes a glycine to ER-stress induction. cause vascular, eye and kidney histidine substitution, which may defects. The familial mutations in significantly alter the protein Col4a1 cause basement membrane structure. By comparing the defects in the affected tissues cellular responses invoked by of mice and patients. However, this variant to the consequences these mutations can also lead to of known Col4a1 mutation, it the intracellular accumulation of may be possible to elucidate the mutant collagen IV, which leads mechanisms of this variant.
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RESULTS suggested that they contain collagens such as the COL4A1 the COL4A1 plasmid; however, G1334H variant could contribute growth of XL-gold cells without to the disease. It has been AIM 1 plasmid made this unclear. shown previously in the lab that Site directed mutagenesis using Proceeding transformations mutaCOL4A2 accumulates within Quickchange XL Site-Directed using new cells obtained growth the cell. Mutant and control cells Mutagenesis Kit by Agilent of less than 10 colonies on each were cultured and treated with Technologies was used to generate sample plate suggesting that several autophagy inhibitors and the mutated Col4a1 construct. only cells transformed with the one FDA approved compound, In the first run no colonies were COL4A1 plasmid had grown. Five carbamazepine, which promotes obtained on the agar plates. individual colonies from each autophagy. Data showed that Therefore, we needed to optimize plate were selected and grown in treatment with carbamazepine had the protocol. As a first step the L-broth cultures which were then little effect on autophagy levels DNA concentration in all samples subjected to plasmid mini prep in control cells as measured by was increased to 100 ng/μl which extraction. Subsequently, plasmid western blotting for the autophagy led to a dense lawn of bacterial samples were sequenced to marker LC3. However, increased cells. This was inconsistent with analyse the presence of the insert. levels of LC3 were observed in the expectation of a very small Some DNA samples were also patient cells, suggesting elevated number of individual colonies. subjected to PCR and the products autophagy levels in cells with a To address this problem the time run on gel electrophoresis to mutation in COL4A2. This may of Dpn1 digestion of the vector obtain preliminary analysis of the indicate an attempt by the cells to step was increased which resulted plasmid insert. Samples consistent degrade accumulated intracellular in the generation of 30 colonies. with the size of the plasmid COL4A2. However subsequent experiments construct were purified from the indicated that extensive trouble- gel and kept to address the next shooting was required. Further aim of the project. CONCLUSION optimization involved testing By the end of the placement I had ampicillin resistance and the successully created five colonies ordering of new cells. Firstly, AIM 2 that contained the insert with the the ampicillin concentrations Due to the technical problems mutant clone. Sequence analysis of the agar plates were altered. associated with the cloning, I using BLAST was able to confirm The original concentration of assisted with the analysis of a this. The increased autophagy 100 mg/ml was increased 2x and different collagen IV mutation. of Col4a2 mutants in patient 3x and selected colonies were Analysis of protein degradation in cells indicate that intracellular cloned onto these plates along cells expressing a mutated form accumulation may be a significant with plates of only the XL cells. of COL4A2 would help shed light aspect by which collagen IV Positive growth of the colonies on a mechanism by which mutant mutations lead to disease.
By the end of the placement I had successully created five colonies that contained the insert with the mutant clone. Sequence analysis using BLAST was able to confirm this. The increased autophagy of Col4a2 mutants in patient cells indicate that intracellular accumulation may be a significant aspect by which collagen IV mutations lead to disease.
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Winter Is Coming: Sperm Competition In Overwintering D. pseudoobscura
Student Amy Campbell . Supervisor Dr Tom Price, University of Liverpool
ompetition between males for in the first hours after mating, then ability between the northern and Cmates is often intense. In most overwintering duration may not southern non-SR males, with species, the competition continues affect the outcome of competition. northern males being much stronger after copulation, with females mating Alternatively, if sperm vary in their competitors. Overall, offspring were with several males, and the sperm of ability to survive cold conditions, twice as likely to inherit SR when each male competing to fertilise her or if competition occurs after the rival male was from the southern eggs. This sperm competition has overwintering, then the impacts on population. However, we found no been an area of intense research for sperm competition may be strong and evidence of any effect of duration 40 years; however, almost all work on may contribute to the distribution of in the fridge, and the success of SR sperm competition has examined it in the meiotic drive gene SR. was the same irrespective of how the short term, with females using the We aimed to test this hypothesis, long they spent in the cold. However, sperm to fertilise eggs immediately looking at the outcome of sperm duration in the cold did strongly after remating. In nature, many competition when females undergo decrease the number of offspring that animals store sperm for long periods a set period of overwintering. We females produced. before using it. In many insects, males mated females to a male carrying So, it looks like the distribution of rarely survive the winter, so females the SR chromosome (an “XD” male), SR in nature is not due to changes mate before hibernating and store then to a non-SR male from either a in sperm competition over winter. sperm for months until the spring. northern (“NOR”) or southern (“SOU” These results also suggest that One area where this might be males) US population. We also ran the important battles in sperm important is in X chromosome trials where the XD male mated after competition happen very soon after meiotic drive, such as sex-ratio the NOR or SOU male. Following the mating, rather than when females are (SR) in the fruit fly Drosophila second mating, we put the females in actually using the sperm, at least in pseudoobscura. SR causes all of a a fridge for 0, 1, 30 or 120 days, after this species. male’s Y chromosome sperm to which they were left for 12 days to The nature of these experiments die, meaning the SR X is passed lay eggs. Offspring fathered by the meant it took a while to set them up, to all offspring, thus, causing all XD male are always daughters, so we and so we haven’t yet had a chance to female broods. The loss of half the counted the proportion of offspring examine the females who have been male’s sperm makes them poor that were sons and, hence, were in the fridge for 120 days. They should sperm competitors, which may be fathered by the NOR or SOU male. be coming out soon, so it’s possible important in controlling the spread To work out the paternity of the that we will see an effect after a really of these selfish genetic elements. SR daughters, we used a PCR assay for long time in the cold. Their offspring is rarer in colder populations, and is SR to determine the father of 23 of the should be ready to count and PCR at particularly rare in the spring just daughters from each experimental the end of November, just in time for after winter, suggesting that sperm female. winter. of SR carrying males may have poor We found that males carrying SR are I would like to thank the Genetics survival over winter, or are poor extremely poor sperm competitors, competitors when cold. Society for providing the opportunity fathering very few offspring, and and the funding for this project. D. pseudoobscura ranges from Canada when they were the first male to Thanks must also go to Tom Price to Guatemala, with the frequency mate, they fathered only 10% of and everyone in the lab for their help of SR within populations forming offspring. The last male to mate and support throughout the project. a cline across America. These flies with a female in Drosophila typically Spending the summer working on become inactive and hibernate at fathers 70% of the offspring, but when my own project has provided me temperatures below 11°C, which can SR carriers were second they barely with valuable lab experience and last 6 months in southern Canada. fathered 30%. We also found a strong has confirmed my desire to pursue a If sperm competition occurs mainly difference in sperm competitive career in science.
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See the relevant web pages and downloadable Funding Application Forms at www.genetics.org.uk
One-off Meeting Sponsorship
Purpose Sponsorship of genetic research meetings not organised by the Genetics Society.
The Genetics Society receives several requests from members each year to sponsor meetings in the field of genetics. These meetings are usually one-off meetings with an ad hoc organising committee and may be partly sponsored by another Society. The guidelines below indicate a review process for applications and the conditions that must be met for the award of Genetics Society sponsorship.
Review of applications 1) Members may make applications at any time visiting the following website: http://gensoc.fluidreview.com/ 2) The application will be circulated to the full committee for review. The review will cover suitability of the meeting for Genetics Society sponsorship and level of support requested. 3) The committee will be asked to respond within two weeks and the Society aims to respond to requests within four weeks.
Conditions of sponsorship 4) Several levels of sponsorship are possible: (a) single lecture: £200 (b) session: £500-1000 (c) major sponsor: £1500-2000. 5) Genetics Society sponsorship must be mentioned in all pre-meeting publicity (e.g. posters, flyers, website) and in the meeting programme. If the Genetics Society is the major sponsor the meeting should be advertised as a “Genetics Society-sponsored meeting”. 6) Details of the programme of the meeting and registration forms should be sent as far in advance as possible to [email protected], for inclusion in the Society’s newsletter and on the website. 7) A short report on a meeting that receives sponsorship of £1000 or more, for possible publication in the newsletter and on the website, should be sent to [email protected] within one month of the conference taking place. 8) Genetics Society sponsorship may be used at the organiser’s discretion, but budget travel and accommodation options should normally be insisted upon. Any unused grant should be returned to the Genetics Society. The Society will not be responsible for any losses incurred by the meeting organisers. 9) An invoice for the grant awarded should be submitted to [email protected]. The grant may be claimed in advance of the meeting and no longer than one month after the meeting. 10) The meeting organisers agree to make details of how to apply for Genetics Society membership available to non- members attending the sponsored meeting. Meetings that receive maximum sponsorship will be expected to offer a discounted registration fee to Genetics Society members to encourage non-members to join the Society at the same time. New members may then attend at the discounted rate, once confirmation of their application for membership of the Genetics Society has been received from the Society’s Office.
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New Sectional Interest Groups
Purpose Regular sponsorship of genetic research meetings on particular themes. Regular (e.g. annual) funding is available for genetics research communities who wish to run regular series of meetings. Current examples include Arabidopsis, the Population Genetics Group and the Zebrafish Forum.
Members may make applications for new Sectional Interest Groups at any time. Applications should be submitted on the GS Funding Application Form available online at http://www.genetics.org.uk/Funding/ NewSectionalInterestGroup.aspx. The award of Genetics Society support will be subject to review of applications by the committee and subject to the following conditions.
1) The sponsorship of the Genetics Society must be mentioned in all pre-meeting publicity (e.g. posters, flyers, website). It should also be acknowledged in the meeting programme booklet. It is understood that wherever possible, the meeting should be advertised as ‘A Genetics Society Meeting’, however, where the Society’s financial contribution support is only partial, and where this formula of words would conflict with the interests of other sponsors, it is acceptable for the meeting to be advertised as a ‘Genetics Society-Sponsored Meeting’. 2) Details of the programme of the meeting should be made available to all Genetics Society members via the Society’s newsletter, and electronic copy should be sent as far in advance as possible to the newsletter editor, at the latest by the advertised copy date for the newsletter preceding the close of registrations for the meeting. The same details will appear on the Genetics Society website. This information should include the programme of speakers, the topics to be covered, plus details of how to register for the meeting. 3) A report on the meeting, once it has taken place, should be submitted for publication in the newsletter, which is the official record of the Society’s activities. This should be sent as soon as possible after the meeting to [email protected], and should include brief factual information about it (where and when it took place, how many people attended and so on), together with a summary of the main scientific issues covered. 4) Genetics Society funds may be used to support speaker travel, accommodation, publicity or any other direct meeting costs, at the organizers’ discretion. It is understood that budget travel and accommodation options will normally be insisted upon. Any unused funds should be returned to the Society. The Society will not be liable for any financial losses incurred by the meeting organizers. Any profits should be retained solely for the support of similar, future meetings, as approved by the Society. 5) A written invoice for the agreed amount of Genetics Society sponsorship should be forwarded to [email protected], no later than one month after the meeting date. Funds may be claimed in advance of the meeting, as soon as the amount of support has been notified in writing. 6) Meeting organizers may levy a registration charge for attendance at the meeting as they see fit. However, it is understood that Genetics Society members will be offered a substantial discount, so as to encourage non- members wishing to attend to join the Society at the same time. The meeting organizers agree to make available to non-member registrants full details of how to apply for Genetics Society membership, such as appear on the website and in the newsletter, and may charge such persons the same registration fee as charged to members, upon confirmation from the Society’s Office that their application and remittance or direct debit mandate for membership fees has been received. 7) The meeting organizers are free to apply to other organizations for sponsorship of the meeting, as they see fit. However, organizations whose policies or practices conflict with those of the Genetics Society should not be approached. In cases of doubt, the officers of the Genetics Society should be consulted for advice.
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New Sectional Interest Groups (continued)
8) If the meeting is advertised on the Internet a link to the Genetics Society website (www.genetics.org.uk) should be included. 9) For those groupings holding their first such meeting with Genetics Society support, it is understood that the Society’s support for future meetings of the series will be decided on the basis of the success of the first meeting, including adherence to all of the conditions listed above. The first meeting is hence supported on a pilot basis only. 10) The meeting organizers will nominate a responsible person who will liaise with the Genetics Society on all matters relating to the meeting, and whose contact details will be supplied to the Society’s Office. This person will inform the Society if he/she resigns or passes on his/her responsibility for the meeting or series to another person, whose contact details shall also be supplied.
Junior Scientist Grants
Purpose To support attendance at genetics research meetings by junior scientists. In this section, junior scientists are defined as graduate students and postdoctoral scientists within two years of their PhD viva.
Travel and accommodation to the Genetics Society meetings Grants up to £150 are available for travel and essential overnight accommodation costs to attend all Genetics Society meetings, including the Genetics Society’s own bi-annual meetings and meetings of our Sectional Interest Groups. The cheapest form of travel should be used if possible and student railcards used if travel is by train. Airfares will only be funded under exceptional circumstances.
How to apply: For the Genetics Society’s own Spring and Autumn meetings, applications should be submitted online (https://gensoc.myreviewroom.com) before the registration deadline of the meeting.
For meetings of our Sectional Interest Groups (e.g. Arabidopsis, Population Genetics Group, Zebrafish Forum), junior scientist travel claims should be submitted on the GS Funding Application Form at any time and emailed to [email protected] using message subject “Travel to GS meeting” and your surname.
There is no limit to the maximum frequency at which the grants can be awarded for attending the Genetics Society meetings.
Travel, accommodation and registration cost at other meetings Grants of up to £750 to attend conferences in the area of Genetics that are not Genetics Society meetings (including sectional meetings) are available to junior scientists.
How to apply: Please visit the website https://gensoc.myreviewroom.com in time for one of the quarterly deadlines (1st day of February, May, August and November). The application must be accompanied by a supporting statement from the applicant’s supervisor or head of department, which must be uploaded via the online application form before the deadline.
Other conditions: Recipients of these grants will be asked to write a short report that may be included in the newsletter. A maximum of one grant per individual per two years will be awarded.
60 . GENETICS SOCIETY NEWS . ISSUE 70 GRANT SCHEMES 61
Training Grants
Purpose To support attendance at short training courses.
Grants of up to £1,000 are available to enable members to go on short training courses in the area of Genetics research. Eligible expenses include travel, accommodation, subsistence and tuition fees.
How to apply: Applications should be made online via the Genetics Society Grants application site. Deadlines are bi-monthly (1 February, 1 April, 1 June, 1 August, 1 October and 1 December). To apply please visit the website https://gensoc.myreviewroom.com.
Closing date: awards will be announced within two months of the closing date. A maximum of one Training Grant per individual per three years will be awarded.
Heredity Fieldwork Grants Purpose To support field-based genetic research and training.
Grants of up to £1,500 are available to cover the travel and accommodation costs associated with pursuing a field-based genetic research project or to visit another laboratory for training. The research field should be one from which results would typically be suitable for publication in the Society’s journal Heredity. The scheme is not intended to cover the costs of salaries for those engaged in fieldwork or training, or to fund attendance at conferences.
How to apply: Applications should be made online via the Genetics Society Grants application site. Deadlines are bi-monthly (1 February, 1 April, 1 June, 1 August, 1 October and 1 December). To apply please visit the website https://gensoc.myreviewroom.com.
A panel of members of the Genetics Society committee will review applications including both information on the student and the proposed project. Feedback on unsuccessful applications will not be provided. Awards will be announced within two months of the closing date.
Other conditions: Only one application from any research group will be admissible in any one year. Recipients of these grants will be asked to write a short report within two months of completion of the project that may be included in the newsletter. A maximum of one grant per individual per three years will be awarded.
www.genetics.org.uk . 61 GRANT SCHEMES 62
Genes and Development Summer Studentships
Purpose To support vacation research by undergraduate geneticists.
Grants of up to £3,000 are available to provide financial support for undergraduate students interested in gaining research experience in any area of genetics by carrying out a research project over the long vacation, usually prior to their final year.
Applications must be made by Principal Investigators at Universities or Research Institutes. The application must be for a named student. Studentships will only be awarded to students who have yet to complete their first degree i.e. those who will still be undergraduates during the long vacation when the studentship is undertaken. There are no restrictions concerning the nationality or membership status of the student, and the student does not have to attend a UK university.
How to apply: there is one closing date of 31st March each year. The student’s tutor or equivalent must also send a reference. Undergraduate students who wish to do vacation research projects are encouraged to seek a PI to sponsor them and to develop a project application with the sponsor.
The studentship will consist of an award of £225 per week for up to 10 weeks to the student plus a grant of up to £750 to cover expenses incurred by the host laboratory. Both elements of cost must be justified. The award will be made to the host institution. The student will receive free membership of the Genetics Society for one year.
A panel of members of the Genetics Society committee will review applications including both information on the student and the proposed project. Feedback on unsuccessful applications will not be provided.
Other conditions: Recipients of these grants will be asked to write a short report within two months of completion of the project that may be included in the newsletter.
62 . GENETICS SOCIETY NEWS . ISSUE 70 The Naked Genetics Podcasts
Download, or subscribe for FREE, at www.thenakedscientists.com/genetics. GENERAL INFORMATION 64
The Genetics Society
The Genetics Society was founded in 1919 and is one of the world’s first societies devoted to the study of the mechanisms of inheritance.
Aims an internationally distinguished Specialist interests geneticist. The Genetics Society was founded Six specialist interest areas are in 1919 and is one of the world’s The Society also awards the Genetics covered by elected Committee first societies devoted to the study Society Medal, Balfour Lecture and Members: Gene Structure, Function of the mechanisms of inheritance. JBS Haldane lecture on an annual and Regulation; Genomics; Cell & Famous founder members included basis. Winners of the Genetics Developmental Genetics; Applied William Bateson, JBS Haldane Society Medal and Balfour lectures and Quantitative Genetics; and AW Sutton. Membership is present their lecture at a Genetics Evolutionary, Ecological and open to anyone with an interest in Society Meeting. A new award, the Population Genetics; Corporate genetical research or teaching, or Mary Lyon Medal, will be awarded Genetics and Biotechnology. The in the practical breeding of plants annually from 2015. Committee Members are responsible and animals. International links for ensuring that the various local and national meetings cover all Meetings The Society has many overseas organisms within the broad spectrum The main annual event of the members and maintains links with of our members’ interests. Society is the Spring Meeting. This genetics societies in other countries has at least one major symposium through the International Genetics theme with invited speakers, and a Federation, the Federation of number of contributed papers and/ European Genetics Societies and or poster sessions. through the International Union of Microbiological Societies. One day mini-symposia are held during the year in different regions Publications so that members from different The Society publishes two catchment areas and specialist major international scientific groups within the society can be journals: Heredity, concerned with informed about subjects of topical, cytogenetics, with ecological, local and specialist interest. Like evolutionary and bio-metrical the spring symposia these include genetics and also with plant and papers both from local members animal breeding; and Genes and and from invited speakers. One of Development, which is jointly these meetings always takes place owned with Cold Spring Harbor in London in November. Laboratories and which is concerned Medals and Lectures with molecular and developmental aspects of genetics. The Mendel Medal, named in honour of the founder of modern genetics, A newsletter is sent out twice a year is usually given on alternative years to inform members about meetings, at a Genetics Society Meeting by symposia and other items of interest.
64 . GENETICS SOCIETY NEWS . ISSUE 70 gs the geneticssociety Membership form Membership includes free online subscription to Heredity
Please complete this form and return it, along with your cheque, Direct Debit instructions or credit card to The Genetics Society, c/o Portland Customer Services, Charles Darwin House, 12 Roger Street, London, WC1N 2JU. Complete this section carefully. The information you provide will help us to correspond with you efficiently and ensure that your details are accurately held on our membership database.
1. IDENTIFICATION (as data controllers we adhere to the Data Protection Act 1998)
Title: Prof. Dr. Mr. Miss. Mrs. Ms.
Last Name: First Name:
Institution:
Institution Address:
Postcode: Country:
Telephone: Fax:
Email:
Your home address should only be given when there is no alternative. Please ensure that you have included your email address.
2. AREAS OF INTERESTS (tick as appropriate)
Gene Structure, Function and Regulation Genomics
Cell and Developmental Genetics Applied and Quantitative Genetics
Evolutionary, Ecological & Population Genetics Corporate Genetics and Biotechnology
3. MEMBERSHIP FEES
Membership entitles you to reduced rate entry to meetings, discounts on journals, free Society newsletters plus free online access to Heredity. The annual membership charges are as follows (please tick applicable box): Full Member: *£25.00 Postgraduate Member: *£15.00 Undergraduate Member: £5.00
* there is a reduction of £5.00 from the membership charge for full and postgraduate members paying by Direct Debit
4. STUDENT MEMBERSHIP (if this section is not applicable please go to section 5)
As a student member of the Society you are eligible to apply for a grant to defray the cost of attendance at meetings organised by the Society. Full details regarding grants is available on the web site. In addition, after one year full membership you can apply for a grant for overseas travel to international meetings held outwith the Society.
If you are applying for an undergraduate membership please state year of graduation:
If you are applying for a postgraduate membership please state year of starting research degree:
Signature of Head of Department/Supervisor
Please note: After four years’ postgraduate membership you will be required to pay the full subscription fee. 5. PAYMENT
Option 1: Direct Debit (UK Bank Accounts only) Complete this membership form and a Direct Debit mandate form, which can be downlaoded from our website and send them to the address below.
I wish to pay by Direct Debit (tick box if applicable). Paying by Direct Debit entitles Full members and Postgraduates to a saving of £5.00 from the price of their membership. Direct Debit Membership Subscriptions are renewed on an annual basis.
Option 2: Cheque/Bank transfer
I enclose a cheque for the sum of £ made payable to Portland Customer Services Payment made by bank transfer to: Portland Customer Services, National Westminster Bank plc, 25 High Street, Colchester CO1 1DG, UK. Account no. 01863630 Sort Code: 60-06-06.
To facilitate identification please confirm:
Your transfer reference Date of transaction
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Option 3: Credit/Debit Card I wish to pay by Credit Card. Credit Card Type: Visa Mastercard Switch I authorise Portland Customer Services to use the credit card details below to pay my membership fees.
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6. MEMBERSHIP NOMINATION
Your application for membership of the Genetics Society will not be accepted without the signature of a FULL MEMBER nominating you for membership. In instances where no full member is available you must submit a copy of your CV along with a short Academic Reference. Your application will then be considered by the Committee. Alternatively, you may contact the Society by email for a list of Society Reps in your area: [email protected].
Signature of nominating FULL MEMBER Print name in block capitals Membership No.
I do not have a signature of a nominating member. I enclose a copy of my CV along with an Academic Reference for consideration by the Committee (tick box if applicable)
Please return your membership application form along with any attachments to: The Genetics Society, Portland Customer Services, Commerce Way, Colchester CO2 8HP, UK marking your envelope MEMBERSHIP APPLICATION.
Please note that the approval of new members is ratified at the Spring Meeting as part of our AGM. However, your membership will begin as soon as your application is processed. Notification of change of address form
If you wish to notify us of a change of address, you can use our online facility by visiting www.genetics.org.uk or by emailing us at [email protected]. Alternatively you can complete the form below and return it to: The Genetics Society, c/o Portland Customer Services, Charles Darwin House, 12 Roger Street, London, WC1N 2JU marking your envelope CHANGE OF ADDRESS NOTIFICATION.
Note that from my new address will be:
Title: Prof. Dr. Mr. Miss. Mrs. Ms.
(Print or Type)
Last Name: First Name:
Institution:
Address:
Postcode: Country:
Telephone: Fax:
Email:
Previous address:
OFFICE USE ONLY
Date Received Date Processed The latest genetic research from Heredity
Heredity is an offi cial journal of the Genetics Society, and publishes original research in all areas of genetics, with a particular focus on population, evolutionary and quantitative aspects, animal and plant breeding and cytogenetics.
Primary research papers are complemented by Reviews covering currently developing areas and News and Commentary articles keeping researchers and students abreast of hot topics.
Discover Heredity today at www.nature.com/hdy
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