Issue 69 of the Genetics Society Newsletter
JULY 2013 | ISSUE 69 GENETICS SOCIETY NEWS
In this issue The Genetics Society News is edited by • New award: The Mary Lyon Medal Manuela Marescotti and items for future issues can be sent to the editor, by email • An affectionate remembrance of Professor Hewitt to [email protected]. The • Meetings Newsletter is published twice a year, with • Student and Travel Reports copy dates of 1st June and 26th November.
Cover image from the Genetics Society forthcoming meeting From Genes to Shape. See page 4 for further details. A WORD FROM THE EDITOR
A word from the NEW editor
Welcome to issue 69. and Eleftheria Zeggini (Sanger Centre) “Applied and quantitative Dear Readers, Genetics”. I do believe that we all will do our best to contribute to This issue sees the newsletter with the good shape of the Society. a new Editor. I would like to thank the former newsletter editor, David As usual this issue is full of Hosken, for the great job he did interesting articles, meeting while he took care of the Genetics reports, student reports, showing Society newsletter. I would the involvement of the Genetics like also to thank the honorary Society in spreading genetics- secretary, Tanya Whitfield, for the related science. Thanks to all of assistance she gave me during my those who kindly contributed. first experience as newsletter editor In particular, a huge thank to of this society. Dave Lunt for his piece about Godfrey Hewitt. His words about Nevertheless, the April AGM Professor Hewitt not only remind brought a breath of fresh air inside us the scientific contribution the Genetics Society; in fact, I and the rigorous approach in his am not the only “new entry” of work, but also highlight a unique the Society Executive Committee. personality that allowed him to Kay Boulton (Edinburgh) has be a great mentor of students become the new post-graduate and post-docs. It is not easy to representative, and, also, some find a scientist that has all these of the area-specific Committee qualities; maybe that is the reason members have been replaced for him for being considered such by Jonathan Pettitt (Aberdeen), an outstanding researcher. for “Gene structure, function and regulation”; Martin Taylor Read on and enjoy. (Edinburgh) “Genomics”; Malcolm Logan (NIMR) for “Cell Best wishes, and Developmental Genetics” Manuela Marescotti
This issue is full of interesting articles, meeting reports, student reports, showing the involvement of the Genetics Society in spreading genetics-related science. Thanks to all of those who kindly contributed.
2 . GENETICS SOCIETY NEWS . ISSUE 69 Issue 69 . July 2013
For more details please contact: The Genetics Society C/O Portland Customer Services Commerce Way, Colchester CO2 8HP CONTENTS Switchboard: +44 (0)1206 796 351 Fax: +44 (0)1206 798 650 Email: [email protected] Web: www.genetics.org.uk Meeting Announcements 4 - 6 The Genetics Society Journals Heredity 2013 Autumn Meeting www.nature.com/hdy 2014 Spring Meeting Managing Editor: Professor Michael Bruford Heredity Editorial Office, Cardiff University, Cathays Park, External Meetings Diary Cardiff, CF10 3AX, Wales Sectional Interest Groups 7 Genes and Development www.genesdev.org Editor: T. Grodzicker, Genes & Development, Cold Spring Genetics Society Business 8 - 16 Harbor Laboratory Press, 500 Sunnyside Boulevard, Woodbury, New York, 11797, USA Obituary 17 - 18
President Prof Enrico Coen, John Innes Centre, Norwich Genetics Society Meeting Reports 19 - 22 Genomics for Health and Society Vice-Presidents Prof Chris Smith, University of Cambridge Prof Rebecca Oakey, King’s College London Genetics Society Sponsored Events 23 - 30 Prof Elizabeth Fisher, University College London Making human heredity: populations
Honorary Secretary and public health in the postwar era Dr Tanya Whitfield, University of Sheffield Mammalian Genetics &
Honorary Treasurer Development workshop Prof Hiro Ohkura, University of Edinburgh Population Genetics Group Conference
Scientific Meetings Secretary 3rd UK RNA splicing meeting Prof Dirk-Jan de Koning, Swedish University of Agricultural British Yeast Group Meeting Sciences, Uppsala Arabidopsis Sectional Interest Newsletter Editor group meeting Dr Manuela Marescotti, Institute of Genetics and Monthly London Fly Meetings Biophysics, Naples Pombe club Postgraduate Representative
Kay Boulton, University of Edinburgh The 2014 Balfour Lecturer, Elizabeth Murchison Features 33 Ordinary Committee Members Dr Ian Henderson, University of Cambridge Dr Matthew Hurles, The Wellcome Trust Sanger Institute Travel Reports 35 - 42 Mrs Dominique Kleyn, BioIndustry Association Deep Sea Biology Dr Malcom Logan, National Institute for Medical Research, London Drosophila Prof Judith Mank, University College London Dr Jonathan Pettitt, University of Aberdeen DNA Replication and Recombination Prof Jane Rogers, The Genome Analysis Centre, Norwich Ear Research in mice Prof Jon Slate, University of Sheffield Human Genetics Dr Martin Taylor, University of Edinburgh Dr Colum Walsh, University of Ulster Plant and Animal Genome Prof John Whittaker, GlaxoSmithKline, Harlow
Dr Eleftheria Zeggini, Wellcome Trust Genome Campus, Cambridge variation affecting all regions of the medfly genome and examine the possible effect of resistance on the medfly life- history traits in newly colonized sites. My Heredity Fieldwork Grant Report 43 - 44 Adam Hargreaves, Bangor University presentation was well received. I discussed the further steps of my project with fellow postdocs and junior researchers and got a lot of interesting ideas and suggestions.
The meeting ended with an elegant banquet at the Exhibition hall of the Town & Design and Print country Hotel, where delegates could meet and enjoy a beautiful evening of abundant food, wine and music. This meeting was a very important venue for me to meet the Training Grants 45 leading authorities in the field of genomics applied to agricultural systems. I am very Advocate Art grateful to the Genetic Society for awarding me the Junior Scientist Travel Grant, 01372 274068 Programmed Cell Death effectors in www.advocate-art.com Arabidopsis thaliana seed development
Advertising in Genetics Society News Studentship Reports 46 - 49 represents an opportunity to reach Chromosome separation a large community of professional Ethanol sensitivity in Drosophila geneticists. For rates please email Acyl-CoA thioesterase [email protected] Meiosis
which sponsored my trip to San Diego.
www.genetics.org.uk . 3 2013 Autumn Meeting From Genes to Shape
Thursday 7 – Friday 8 November. The Royal Society, London
How does digital information in a linear DNA sequence lead to Speakers include the dynamic shape of individual cells, such as pollen tubes and Anja Geitmann Université de Montréal neurons, and growing multicellular structures such as flowers Ray Goldstein University of Cambridge or wings? Recent advances in genetics, imaging, cell biology, Verônica Grieneisen John Innes Centre, Norwich biophysics and computational biology are being used to address Max Heiman Harvard Medical School this problem at a mechanistic level for the first time. Frank Jülicher Max Planck Institut, Dresden Stan Leibler Princeton and Rockefeller Universities This two-day meeting brings together scientists working at Sophie Martin University of Lausanne the interface of these disciplines to unravel the mechanisms Benedicte Sanson University of Cambridge underlying shape generation from the subcellular to the tissue James Sharpe EMBL-CRG, Barcelona scale. Topics include cytoskeleton dynamics, cell polarity, growth Jan Traas ENS, Lyon and deformation of cell sheets and formation of primordia and appendages. The meeting will highlight unifying principles by Meeting organisers ranging over microbial, plant and animal systems. Enrico Coen and Buzz Baum
for registration, visit www.genetics.org.uk 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, Institute of Psychiatry 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 Dr Nita Farahany, Duke 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 EXTERNAL MEETINGS DIARY 6
We will happily include any announcements for genetics-based meetings in this section. Please send any items to the editor.
Exploring Human Host-Microbiome Interactions in Functional Genomics and Systems Biology 2013 Health & Disease 2013 21-23 November 2013, Cambridge, UK 8-10 July 2013, Cambridge https://registration.hinxton.wellcome.ac.uk/ https://registration.hinxton.wellcome.ac.uk/display_ display_info.asp?id=333 info.asp?id=330 44th Annual Conference of the German 8th European Zebrafish Meeting Genetics Society (GfG) 9-13 July 2013, Barcelona 23 to 25 September 2013 in Braunschweig, Germany. www.zebrafish2013.org/ Insects and zoonose genomes and human health The Leena Peltonen School of Human Genomics 6 November 2013, The Royal Society London 18-22 August 2013, Wellcome Trust Conference Centre, www.galtoninstitute.org.uk7conferences.htm Wellcome Trust Genome Campus, Hinxton, Cambridge https://registration.hinxton.wellcome.ac.uk/display_ Functional Genomics and Systems Biology 2013 info.asp?id=345 21-23 November 2013, Cambridge, UK https://registration.hinxton.wellcome.ac.uk/ 14th Congress of the European Society for display_info.asp?id=333 Evolutionary Biology 19-24 August 2013, Lisbon, Portugal www.eseb2013.com/
Student Evolutionary Biology Conference comes to the UK
The 19th European Meeting of PhD Students in Evolutionary Biology (EMPSEB) will be hosted by PhD students from the University of Exeter Cornwall Campus, near Falmouth, UK, from the 3rd-7th September, 2013.
EMPSEB provides a platform for PhD students studying PhD, and first year students are welcome to present the Evolutionary Biology to present their work and meet background to their PhD and research goals in lieu of peers from all over Europe without the pressure often research results. Registration will remain open until associated with larger meetings. Whilst delegates March 1st 2013, and a limited number of travel grants will primarily be PhD students, a selection of senior will be available. academics from across Europe will give plenary talks, run workshops, and provide guidance on starting a Please visit www.empseb19.com or to email secretary@ scientific career. Delegates may be at any stage of their empseb19.com for further details.
6 . GENETICS SOCIETY NEWS . ISSUE 69 7 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 organizers 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: Thorston 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 Population Genetics Group Organiser: Stephen Nurrish Organiser: Lori Lawson Handley ([email protected]) ([email protected])
Ecological Genetics Group The Zebrafish Forum Organiser: Paul Ashton Organiser: Rachel Ashworth ([email protected]), ([email protected]) Caroline Brennan ([email protected]), Corinne Houart ([email protected]). Genetics Society Pombe Club Organiser: Jacky Hayles There are meetings at 5:30pm-8.00pm on the first ([email protected]) Thursday of every other month. Room G12, New Hunt’s House, King’s College - London SE1 1UL
www.genetics.org.uk . 7 GENETICS SOCIETY BUSINESS 8
Honorary Secretary’s Notices Tanya Whitfield . Honorary Secretary, University of Sheffield
Committee changes Medal and Prize Lecture and elections Announcements here was a substantial turnover as Postgraduate Representative. The Genetics Society is pleased to Tin Committee members this Our new area-specific Committee announce the award of our 2014 year; we welcome all new members members are: Jonathan Pettitt Genetics Society Medal and two and thank outgoing officers for (Aberdeen), who will represent Named Lectures to the following their contributions to the Society. Area ‘A’ (Gene structure, function scientists for their outstanding We are grateful to Dave Hosken for and regulation); Martin Taylor contributions to the study of his role as Newsletter Editor, and (Edinburgh) for Area ‘B’ (Genomics); Genetics. Additional information to Anne Donaldson, Chris Ponting, Malcolm Logan (NIMR) for Area ‘D’ about these individuals and their Julian Lewis, Gilean McVean (Cell and Developmental Genetics) research are posted elsewhere in and for their contributions to the and Eleftheria Zeggini (Sanger this or future Newsletters. Committee as representatives for Centre) for Area ‘D’ (Applied and Areas ‘A’ (Gene structure, function quantitative Genetics). In addition, 2014 Genetics Society Medal and regulation), ‘B’ (Genomics), ‘C’ Anne Donaldson (Aberdeen) was Professor Jonathan Flint, The (Cell and developmental genetics) elected to replace Hiro Ohkura as Wellcome Trust Centre for Human and ‘D’ (Applied and quantitative Honorary Treasurer from 2014, and Genetics, Oxford genetics), respectively. We also will shadow him for his remaining thank Adam Hargreaves, who year in office. We hope that all new 2014 Balfour Lecture leaves at the end of this year, for members will find their time on the all his team-building efforts as Committee rewarding and enjoyable. Dr Elizabeth Murchison, Wellcome Trust Sanger Institute, Hinxton Postgraduate Representative. We also welcome the 301 new Six new Committee members were members that were formally 2014 JBS Haldane Lecture elected to office at the Annual elected by the Society at the AGM; General Meeting, held at the Royal we look forward to seeing them Professor Armand Leroi, Imperial Society on Friday 19th April 2013. at future meetings and hope that College London We welcome Manuela Marescotti they, in turn, will help to recruit (Naples), who replaces Dave Hosken new members. Minutes of the April Nominations remain open for our as Newsletter Editor, and Kay 2013 AGM and a list of Committee 2015 awards: details can be found in Boulton (Edinburgh), who will members can be found on the this edition of the Newsletter. Any take over from Adam Hargreaves Society’s website. member in good standing is eligible to submit nominations. Six new Committee members were elected to office We are also pleased to announce the inauguration of a new award at the Annual General Meeting, held at the Royal for mid-career geneticists, the Society on Friday 19th April 2013. We hope that all Mary Lyon Medal. See later in the new members will find their time on the Committee Newsletter for more information. rewarding and enjoyable.
8 . GENETICS SOCIETY NEWS . ISSUE 69 GENETICS SOCIETY BUSINESS 9
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 hree Committee posts will be continue with your involvement further subscriptions. Recipients of Tfalling vacant as of 1st in the Society? If so, and you are the Genetics Society Medal will also May 2014: an ordinary member who has be offered Life Membership. Should discharged any arrears the might be you require additional information due to the Society, then you might about becoming a Life Member, 1. Scientific Meetings consider applying to become a Life please contact The Genetics Society Secretary Member of the Society. Life members Office ([email protected]). This will begin with a 12 month will continue to receive notices and period of shadowing the current Scientific Meetings Secretary, DJ de Koning
2. Ordinary Committee Genetics Society Medal member, Area ‘E’ (Evolutionary, ecological and The Genetics Society Medal is an 2012 Newsletter for a profile of population genetics), to replace award that recognises outstanding Robin’s career. Matthew Hurles research contributions to genetics. The 2014 Genetics Society Medal The Medal recipient, who should is awarded to Professor Jonathan 3. Ordinary Committee still be active in research at the Flint (The Wellcome Trust Centre member, Area ‘F’ time the Medal is awarded, will be for Human Genetics, Oxford). (Corporate genetics and biotech- elected annually by the Committee See later in this Newsletter for nology) to replace John Whittaker on the basis of nominations made more information. by any individual member of the Members of the Committee will Society. Those making nominations Call for Nominations nominate a ballot of candidates; must be members of the Genetics Nominations are now being invited however, all members in Society, but there is no requirement for the 2015 Genetics Society Medal. good standing are welcome for the nominee to be a member, nor To make a nomination, please to nominate individuals for any restriction on nationality or confirm that your candidate is willing these upcoming vacancies residence. Neither current members to be nominated, and then forward from members of the Society. of the Committee nor those who a two-page CV of the candidate, Nominations should be sent via have retired from office in the past together with a list of his or her ten email to the Honorary Secretary, four years may be nominated for the most important publications, plus a Tanya Whitfield (t.whitfield@ award. The recipient will be invited one-page letter of recommendation sheffield.ac.uk) in time for a to deliver a lecture at a Genetics outlining why you feel their deadline of Friday, November Society meeting, where the medal contributions to the field have been 29th, 2013. Nominations must be will be awarded. outstanding. Please submit these made with the nominee’s consent. The 2013 Genetics Society Medal is supporting documents via email awarded to Professor Robin Allshire, to the Honorary Secretary of the who presented his lecture at the Genetics Society, Tanya Whitfield British Yeast Group Meeting, March ([email protected]), by 2013, in Nottingham. See the July Friday, November 29th, 2013.
www.genetics.org.uk . 9 GENETICS SOCIETY BUSINESS 10
The Mary Lyon Medal
She went on to read Zoology, Radiobiology unit at Harwell, in Physiology and Biochemistry at Oxfordshire where Mary remained Girton College, Cambridge in 1943. for the rest of her career. At Girton, Mary was named the Many discoveries coming from Mary’s Sophia Adelaide Turle Scholar career were offshoots of the study of (1944) and received the Gertrude these radiation induced mutations Gwendolen Crewdson Prize (1945). in mice; often being investigated During her time at Girton, the in her spare time. X-linked mutant fascinating advances in experimental genes, for example, gave mottled embryology of the 1930s caught or dappled coats in heterozygous Mary’s attention; she was also animals. Mary worked out that the much influenced by the writings of colour patches could be produced C. H. Waddington which included by the action of one or other of his books on Genetics. It seemed the two X-chromosomes in female to her that genes must underlie all cells. She proposed the idea of X- embryological development. This chromosome inactivation by which was a relatively new idea at the time, early in development one of the two Genetics not even being taught as a X-chromosomes is inactivated, which degree subject. Mary consequently she later extended to all mammals. took a course in genetics by the This hypothesis of X-inactivation is eminent statistician and theoretical also widely referred to as lyonization geneticist R.A. Fisher, with whom after Mary. Mary’s extensive work on she later started a PhD. For her PhD, the t-complex, a genetic peculiarity This new award, named after the Mary decided to study a balance found in wildtype mice, also came out distinguished geneticist Mary Lyon defect in one of the mutants in of work on radiation. Mary also made FRS, has been established this year Fisher’s lab. She however later major contributions to understanding to reward outstanding research in moved to Douglas Falconer’s lab in environmental mutagenesis. Her genetics to scientists who are in Edinburgh for better facilities to work on effects of low dose radiation the middle of their research career. complete her PhD. on female germ-cells mutation in The Mary Lyon medal will be After obtaining a PhD, Mary was mammals indicated that only a awarded annually, and the winner employed to study the genetic fraction of mutation is due to low will be invited to present a lecture hazards of radiation by means of dose environmental radiation. at one of the Genetics Society mutagenesis experiments with In 1962, Mary took over as head scientific meetings. mice in a group led by T. C. Carter of the Genetics section of the in Edinburgh. Mary Frances Lyon was born Radiobiology unit at Harwell. in Norwich, England in 1925 to The work was funded by an Here she broadened the expertise Clifford James Lyon and Louise MRC funded grant obtained of the unit by introducing Frances Lyon (nee Kirby). Mary by Waddington, the head of Cytogenetics, work on Biochemical received a Grammar school Genetics department. Carter’s genetic markers and early pre- education and recalls a set of books group eventually moved to MRC and post-implantation mouse on wild flowers, birds and trees that she won in an essay writing Mouse embryo banking started at MRC Harwell under competition, which sparked her Mary’s leadership, following collaboration with David interest in Biology at a young age. Whittingham’s laboratory in Cambridge.
10 . GENETICS SOCIETY NEWS . ISSUE 69 GENETICS SOCIETY BUSINESS 11
embryo manipulation. Mouse embryo banking started at MRC MEDAL DESIGN COMPETITION Harwell under Mary’s leadership, following collaboration with David Whittingham’s laboratory in calling all artists! Cambridge. Today this has taken the form of FESA (Frozen Embryo and Sperm Archive) the sole public e would also like to open up a Tanya Whitfield (t.whitfield@ UK archiving and distribution Wcompetition for the design of sheffield.ac.uk) by Friday, November centre for mouse strains. the Mary Lyon medal. The theme 29th, 2013. All members of the In 1986, Mary officially retired as should reflect Mary Lyon’s career and Genetics Society are welcome to the head of the Genetics Division, her contributions to genetic research. make a submission. Submissions but continued to play an active role Please send your design for both sides will be judged by members of the in the science of the unit for a very of the medal, together with a short Genetics Society Committee, and the long time after. In 2004 the Medical written explanation, as electronic winning design will be featured in a Research Council opened a large files to the Honorary Secretary, future edition of the Newsletter. Centre at Harwell called the Mary Lyon Centre which is a national facility for mouse functional genomics, providing world-class expertise, tools and space to The Balfour Lecture generate mouse models of human disease in keeping with Mary’s The Balfour Lecture, named after the The Genetics Society is delighted contribution to science. Genetics Society’s first President, is to announce that the winner of the Call for Nominations an award to mark the contributions 2014 Balfour Lecture is Dr Elizabeth to genetics of an outstanding young Murchison, from the Wellcome Nominations are now being invited investigator. The Balfour Lecturer is Trust Sanger Institute (Hinxton). Dr for the 2015 Mary Lyon Medal. To elected by the Society’s Committee Murchison will present her lecture make a nomination, please confirm on the basis of nominations made by at the Genetics Society Autumn that your candidate is willing to any individual member of the Society. meeting in 2014. See later in this be nominated, and then forward The only conditions are that the Newsletter for more information. a two-page CV of the candidate, recipient of the award must normally together with a list of his or her five Nominations are now being invited have less than 10 years’ postdoctoral for the 2015 Balfour Lecture. Note most important publications, plus a research experience at the time of one-page letter of recommendation that there is no restriction on the nomination. Any nomination must subject matter of the Balfour Lecture. outlining why you feel their be made with the consent of the contributions to the field have been To make a nomination, please nominee. Those making nominations confirm that your candidate is willing outstanding. Please submit these must be members of the Genetics supporting documents via email to be nominated, and then forward Society, but there is no requirement a two-page CV of the candidate, to the Honorary Secretary of the for the nominee to be a member, nor Genetics Society, Tanya Whitfield together with a list of his or her ten is there any restriction on nationality most important publications, plus a ([email protected]), by or residence. Friday, November 29th, 2013. one-page letter of recommendation The 2013 Balfour Lecturer is outlining why you feel their Dr Simon Myers, who was profiled contributions to the field have been in the July 2012 Newsletter, and gave outstanding. Please submit these an excellent research talk at the supportin documents via email to the Genetics Society Spring meeting at Honorary Secretary, Tanya Whitfield The Royal Society in April. ([email protected]), by Friday, November 29, 2013.
www.genetics.org.uk . 11 GENETICS SOCIETY BUSINESS 12
Published on behalf of The Genetics Society
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S Ponsuksili, K Wimmers et al
RT-PCR compared to microarray data
Expression quantitative trait loci analysis of genes in porcine muscle by quantitative real-time
W Vu & S Nuzhdin
Genetic variation of copia suppression in Drosophila melanogaster
D W Loehlin, L S Enders & J H Werren
Evolution of sex-specific wing shape at the widerwing locus in four species of Nasonia
T Leinonen, J M Cano & J Merilä
Genetic basis of sexual dimorphism in the threespine stickleback Gasterosteus aculeatus
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relatedness in genomic data association analyses
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S Ponsuksili, K Wimmers et al
RT-PCR compared to microarray data
Expression quantitative trait loci analysis of genes in porcine muscle by quantitative real-time
W Vu & S Nuzhdin
Genetic variation of copia suppression in Drosophila melanogaster
D W Loehlin, L S Enders & J H Werren
Evolution of sex-specific wing shape at the widerwing locus in four species of Nasonia
T Leinonen, J M Cano & J Merilä
Genetic basis of sexual dimorphism in the threespine stickleback Gasterosteus aculeatus
M J Sillanpää
relatedness in genomic data association analyses
Overview of techniques to account for confounding due to population stratification and cryptic
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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].
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14 . GENETICS SOCIETY NEWS . ISSUE 69 GENETICS SOCIETY BUSINESS 15
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) 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 Prof Ian Jackson MRC Human Genetics Unit, Edinburgh 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 Prof EMC Fisher Nat’l Hosp for Neurology & Neurosurgery London Dr 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 University of Oxford (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 Gonzalo Blanco University of York Ascot -vacant- Imperial College London (Ascot) Cambridge -vacant- University of Cambridge Dublin -vacant- University of Dublin Edinburgh -vacant- Roslin Institute Guildford -vacant- University of Surrey London -vacant- Imperial College (Hammersmith) Richmond -vacant- Royal Botanic Gardens Kew
www.genetics.org.uk . 15 GENETICS SOCIETY BUSINESS 16
Genetics Society Medal 2014 Professor Jonathan Flint
he Genetics Society Medal pioneered the use of outbred mice Tis an award that recognises for genetic mapping and the analysis outstanding research contributions of complex traits, and has gone on to to genetics; we are delighted to develop the methodology that makes announce that the 2014 Medal has the identification of susceptibility been awarded to Professor Jonathan genes possible using this approach. Flint (The Wellcome Trust Centre for This method has the potential to Human Genetics, Oxford). become a general tool for finding Jonathan Flint is a psychiatrist genes of biomedical importance to act in both rodents and humans with an interest in the genetic basis in mouse models of disease. More in regulating levels of fearfulness. of common psychiatric disorders, recently, he has begun exploring Professor Flint also established and in particular the determination of the genetic basis of personality co-curates the largest set of data the genetic basis of anxiety and traits in humans that predispose Theon 2014 quantitative Genetics Society Medallist, Professortrait Jonathan loci Flint in the depression in animal models and in to depression and anxiety. He has mouse, freely available online. He is humans. He was the first to show shown that it is possible to identify currently a Wellcome Trust Principal that the genetic basis of an animal susceptibility loci by selecting Fellow and Honorary Consultant model of human anxiety is amenable genetically informative families from Psychiatrist, and is the Michael to mapping and that the genetic extremely large samples, indicating Davys Professor of Neuroscience at basis is relatively simple. Jonathan that some of the same loci are likely the University of Oxford.
Balfour Lecture 2014 Dr Elizabeth Murchison
he Genetics Society is pleased in 2002 from the University of Tto announce that the 2014 Melbourne, Australia, and obtained Balfour Lecture will be awarded to a Ph.D. in Genetics in 2007 from Cold Dr Elizabeth Murchison (Wellcome Spring Harbor Laboratory in New Trust Sanger Institute, Hinxton). York. Elizabeth holds a Research The Balfour Lecture, named Fellowship at King’s College after the Genetics Society’s first Cambridge and she has previously President, is an award to mark the held Fellowships from the European contributions to genetics of an Molecular Biology Organisation outstanding young investigator. (EMBO) and the American Elizabeth Murchison is a Research Australian Association. Fellow in the Cancer Genetics and She has received several awards, Genomics Group at the Wellcome including the L’Oreal-UNESCO Trust Sanger Institute. Her research For Women in Science UK and is focused on the genetics and Ireland Fellowship (2009) and the evolution of clonally transmissible 2012 Eppendorf Award for Young cancers in dogs and Tasmanian European Investigators. Elizabeth devils. She graduated with a is a keen public communicator, and The 2014 TEDGlobalBalfour Lecturer, Elizabeth 2011 Murchison entitled “Fighting a Bachelor of Biomedical Science recently presented a TED talk at contagious cancer”.
16 . GENETICS SOCIETY NEWS . ISSUE 69 17 OBITUARY
Professor Godfrey M Hewitt 10 January 1940 - 18 February 2013
Dr Dave Lunt . The University of Hull
odfrey Hewitt was an University of Birmingham. This into completely different and Goutstanding researcher, decision was made largely due fascinating directions. This was mentor, teacher, and professor to the department’s expertise in sometimes disconcerting, especially of evolutionary biology at the genetics, and Godfrey later carried for students first meeting him at University of East Anglia. Godfrey out his PhD research there with conferences, as although he was was an excellent geneticist who Kenneth Mather, John Jinks and always very friendly you were championed the field and promoted Bernard John. It was genetics quickly far from the topics on which the incorporation of molecular that he initially identified as both you might have rehearsed speaking genetics into diverse biological personally fascinating and of to the great man. In addition to a fields throughout his distinguished increasing importance in biology, a broad scientific knowledge, history, career. A probably incomplete view that he maintained throughout geography, human civilizations, list of the disciplines in which he his career and which would be hard current affairs and sport would applied evolutionary genetics might for anyone to argue with today. all be topics for strong, sparky, include speciation, phylogeography, Something he proudly recognized, and often provocative views. In hybridization, phylogenetics, and often mentioned, was the conversation on many science topics molecular evolution, cytology, academic rigour of genetics-based I often found myself wondering, ancient DNA, conservation, pest science compared to some other slightly bemused, how on earth he biology, animal domestication, disciplines in biology, and scientific knew anything about this specific island biogeography, population rigour was an important component and obscure area. He often didn’t, genetics and molecular ecology. of his own research. but as with all great scientists he It is hard to overstate how Godfrey was far from a one- could incisively follow the logic (or influential Godfrey was in several dimensional character, and lack of it) of an argument without of these areas. He is very highly conversations with him about prior knowledge. cited, making him by some metrics literally almost anything would This excellent foundation of one of the world’s most influential soon appear and then spiral logic and scientific rigour was ‘ecologists’, received many awards, and had several conferences organized in his honour. Perhaps more importantly though, along Godfrey Hewitt was one of the most intelligent with his many collaborators, he people that I have ever met. This may surprise synthesized a change in scientific worldview for those working in the some who have spoken with him, as his areas phylogeography, speciation bonhomie and down to earth common sense and Quaternary biology. Born in Worcester, and always were a million miles away from the quirky proudly associating with the city, boffin-like ‘intelligence’ with which the popular Godfrey chose in the late 1950s to become an undergraduate at the media caricaturizes outstanding scientists.
www.genetics.org.uk . 17 OBITUARY 18
something that he imparted to interested in, but did not obsess who worked with him. It is not the very many scientists who over, small areas of methodological contradictory to say that although passed through his lab. As a PhD or theoretical advance, preferring almost all remember Godfrey fondly student in Godfrey’s group I instead to collaborate productively he could also be very tough. He did learned to think like a scientist, with those who were experts. This not tolerate foolishness, selfishness, and although there are many approach and vision was the basis or inactivity, and would be very things I owe him, this is perhaps for many of the significant advances direct with those who disappointed the most valuable. that he synthesized. him. This toughness has left a Godfrey Hewitt was one of the Godfrey worked extensively with positive mark, still subconsciously most intelligent people that I have the journal Molecular Ecology, setting the bar very high for many ever met. This may surprise some including a period as senior editor. of his students and postdocs, even who have spoken with him, as Colleagues speak of the huge though their enduring memory his bonhomie and down to earth amount of time he freely gave, not may still be his fatherly support. common sense were a million only reflected in the handling of Very many of his former lab miles away from the quirky boffin- prodigious numbers of manuscripts members have themselves gone on like ‘intelligence’ with which but also in the advice and discussion to academic positions worldwide the popular media caricaturizes with authors. His generosity with and his scientific genealogy is truly outstanding scientists. Godfrey his time was a central part of his impressive. though was not for intellectual character, and extended outside Godfrey died in February 2013 showmanship, he was for getting of journal activities being equally after a stubborn battle with cancer things done, and the ability to given in person to those who that had lasted for a number of get truly important and complex approached him at meetings, came years. He will be remembered by problems solved is as good a to his lab, or just happened to work most for his exceptional scientific definition of intelligence as I in the same building. legacy although this impressive have found. This was Godfrey’s Much has been written in tribute body of work will be eclipsed by his real talent. He could see the wood about his exceptional mentorship of generous humanity for those who for the trees, the wood in all its students and postdocs, for which he knew him. beautiful complexity, the patterns won a Nature lifetime achievement by which the wood had come have award. He gave personal support its position, composition and and scientific mentorship naturally structure, and the relevance of this and spontaneously, which is a topic for other biological systems. He was frequently returned to by those
Godfrey worked extensively with the journal Molecular Ecology, including a period as senior editor. Colleagues speak of the huge amount of time he freely gave, not only reflected in the handling of prodigious numbers of manuscripts but also in the advice and discussion with authors.
18 . GENETICS SOCIETY NEWS . ISSUE 69 19 GENETICS SOCIETY MEETING REPORT
The Genetics Society Spring Meeting Genomics for Health and Society 19th April 2013 The Royal Society, London
Dr Cheryl Bernal . University College of London
his Spring’s Genetics Society exonic copy number changes, and proportion (~5%) of cases could Tmeeting and AGM were held at observed different sizes of intragenic be associated with two molecular the Royal Society, London, organized losses and gains. One of several diagnoses for two Mendelian by Matt Hurles, Chris Ponting and technologies they use is array CGH, diseases simultaneously, with the Bill Newman, the latter on behalf which provides a good test for two relevant alleles having been of the British Society of Human patients with neurodevelopmental brought together in one individual. Genetics (now renamed the British disorders because it objectively and In closing, Dr Lupski reiterated that Society of Genetic Medicine). The quantitatively detects whether a “rare diseases are not that rare and primary objective of the meeting patient’s DNA has losses or gains account for a significant fraction of was to discuss potential impacts which are pathogenic and can in population illness” and highlighted of large-scale genome sequencing turn explain their clinical problems. that integrating clinically relevant of human populations in the When looking at genomic variation with sequence information 21st Century. The packed agenda rearrangements, they found that is extremely important for medical featured an esteemed and diverse most pathogenic variation is caused research and the development of group of speakers covering domains by de novo events and single exon therapeutics. ranging from DNA fingerprinting to dropouts were found across the consumer genomics, from genealogy genome; this raised the hypothesis Power to the People to genomic medicine, from the of single exon dropouts being Professor Sir John Burn, from the legal implications of genomics responsible for Mendelian traits. He University of Newcastle, followed Dr to therapeutic opportunities and highlighted the need to build models Lupski. He stated that individuals scientific communications. for what is observed in Mendelian wish to know more about their Personal Genomes & genetics, rather than models for diseases and there is a pressing complex traits. This is because need for answers that go beyond Clan Genomics human genome variation constitutes the question: “what’s wrong with The day’s opening speaker, Dr the overlap of Mendelian traits, me and can you make me better?” Jim Lupski from Baylor College common diseases, chromosomal They want additional context such of Medicine, has studied rare syndromes and genomic disorders. as “why did it happen?” and “will it diseases and his special focus For this reason, CMT patients were be worse in the next generation?” has been Charcot Marie Tooth sequenced for two types of variation: They wish to test themselves and (CMT) for which his own genome CNV and SNV. Results for both even their pregnancies. Similarly was sequenced. Dr Lupski gave showed similar allelic patterns. Dr to Dr Lupski, Sir John highlighted recognition to his team and other Lupski showed that more than 74 that rare diseases are not actually colleagues who have worked with families have been diagnosed with that rare and while it is difficult to him on multiple studies, including small intragenic CNVs causing just pinpoint one causative gene it the detection of clinically relevant Mendelian diseases. A small is better to analyse them all using
To date, policies for genetic testing have been constrained due to prohibitive costs. Nevertheless, newer more affordable technologies provide the opportunity for extending testing and for identifying, diagnosing and preventing diseases sooner.
www.genetics.org.uk . 19 GENETICS SOCIETY MEETING REPORT 20
available and relatively affordable invest £100 million in the 100,000 treatments for rare diseases, such as technology. In his view, determining genome project. DMD, by 2020. disease-specific genotypes are best To date, policies for genetic testing There are now at least two drugs in suited to point of care use and it have been constrained due to late-stage development to treat this will soon be cheaper to re-sequence prohibitive costs. Nevertheless, newer disease. Due to the low prevalence instead of keeping patients’ genetic more affordable technologies provide of DMD, there are insufficient data, which might avoid additional the opportunity for extending testing patients in each country to provide legal, ethical and privacy issues. and for identifying, diagnosing and a representative sample. Similarly The UK’s Human Genomics Strategy preventing diseases sooner. Sir John to Sir John, Dr Bushby also sees Group & Innovation Committee has saw it as critical that relevant policies a critical need for policies to be proposed the benefits of investing in should be updated to reflect these new updated. Rare disease service sequencing 100,000 genomes. Given opportunities. delivery policies, while very clear, that the NHS system delivers health need to enable development of new services to 60 million people, it is a Developing Therapies therapies and access to drugs. In perfect way to obtain data resources, Professor Kate Bushby MD, also her opinion, the EU should modify provide new diagnoses and develop from the University of Newcastle, policy to enable studies to be pan- new treatments. This would, Prof outlined progress in developing European and to enroll subjects Burn indicated, benefit the UK in therapies for treating Duchenne from across member states, in order health and wealth, because the UK Muscular Dystrophy (DMD). to develop a fuller picture of the could become an innovation leader in The International Rare Diseases disease, providing more resources the Genomics Personalised Medicine Research Consortium (IRDiRC) for research and a wider coverage field. The government decided to has as its objective to develop 200 for treatment.
20 . GENETICS SOCIETY NEWS . ISSUE 69 GENETICS SOCIETY MEETING REPORT 21
In ancestry websites, the main sources of genetic The refinement of this method material are currently mitochondrial DNA and the has allowed the creation of the UK National DNA Database, which has male-specific Y chromosome. been populated by samples taken from crime scenes, police suspects, and anyone arrested or detained at a Legal Implications the centre of decision-making and enable participant communication police station (applicable to England of Genomics with clinicians and researchers. and Wales). Dr Jane Kaye from the University PCIs such as TuDiabetes.org, In comparison to other EU nations, of Oxford covered the evolving Patientslikeme, Genomera, that in many cases do not have data protection and privacy laws CureTogether, and Health Unlocked DNA databases, the UK is advanced, and the use of new technological keep records of all consents and with over 4 million profiles stored. tools to enable compliance with interactions in one place and aim This is thanks to the processes, the regulations. Dr Kaye outlined to ensure compliance with legal policies and laws already in place on how medical research will be requirements at a global level. covering data collection and storage. impacted by the proposed European Dr Kaye emphasized that this In situations such as the terrorist data protection regulation, implementation will require a attacks of 9/11, a DNA database introduced under the Albrecht cultural reorientation and a better can provide immense benefits, so Amendment in January this year. understanding and valuing of the for this and many other reasons, a One of the objectives of the latest role that patients play in research. common debate has been whether revisions is to strengthen online there is value in sampling every privacy rights and harmonise data Human Identification and citizen for inclusion in a database. protection throughout the EU. Under Sir Alec highlighted the advantages the new draft regulations, personal Forensic DNA of presenting genomic data in a data includes genetic data and Professor Sir Alec Jeffreys from the simple and “more pictorial” way in would also address data usage on the University of Leicester kicked off court cases, versus the challenges internet (even IP addresses will be the afternoon’s programme with a of trying to explain non-pictorial treated as personal data). Medical history of forensic genetics, which numerical data to a jury. research would need to comply with has its roots as far back as 1902, the new regulations and will need when Karl Landsteiner analysed Human Ancestry to report how the subject’s data is ABO blood groups. He then spoke Dr Mark Jobling, also of the used. Consent has to be freely given, about DNA fingerprinting, the University of Leicester, outlined informed, specific and explicit; there method he invented and developed how genomic information is a is no implied consent, and the data in 1984, which uses variations in the valuable tool in genealogical and subject has the right to be forgotten. genetic code to identify individuals. ancestry analysis. Some methods In order to stay compliant with The method has shown critical use that involve linkage disequilibrium the regulations it is necessary to in forensic science for criminal have the potential to provide more have better procedures in place, investigations, paternity tests and answers about admixture events; enabling subjects to give consent immigration disputes – and famous recently, Jobling and his team found and to inform them about how court cases in the UK have been a strong link between Y chromosome the data is being used. Current highly dependent on this method. STRs and the origins of British practices for anonymisation and Initially, DNA fingerprinting surnames. Informative patrilines pseudonymising can be insufficient, focused on a few highly variable and matrilines can be deduced and so new additional procedures minisatellites. The development can identify common ancestors. might need to take place. New of PCR methods has enabled the In ancestry websites, the main technologies can be customised to automation of the method and now sources of genetic material are comply with the new regulations the most commonly used markers currently mitochondrial DNA and and Participant Centric Initiatives are variable microsatellites or the male-specific Y chromosome. (PCI) already place individuals at Single Tandem Repeats (STRs). Whole genome sequencing now adds
www.genetics.org.uk . 21 GENETICS SOCIETY MEETING REPORT 22
considerably more information to part of reproduction which in individuals were from, by taking databases, which might increase mammals occurs at least once per into account genetic drift, migration the accuracy of results. However, chromosomal arm, and where it and variation. there are some exaggerations in is lacking can cause aneuploidy. the promotion of genetic ancestry Citing Alec Jeffrey’s work, Myers Communicating Genomics testing and the results are presented stated that recombination occurs Mark Henderson, Head of as specific to the individual while in hotspots and produces different Communications at the Wellcome they are just informative at a high patterns of variation. Trust, and formerly the Science level in a population. For example, Myers and his team studied the Editor at the Times explained that when we consider all (male and human recombination landscape there are two major myths in the female) lineages, the common at fine-scale, with 35,000 genome- media: “The human genome is all ancestor - for all those who are alive wide inferred hotspots based on hype” and that the “Gene revolution today - is fairly recent. Eventually, patterns of genetic variation. He has stalled”. It is Henderson’s everyone is either a common sought the sequence determinants perspective that Clinton’s speech ancestor, or others who contributed of recombination hotspots and for the inauguration of the Human little or nothing to the modern predicted that a zinc finger protein Genome Project in 2000 was population: the ‘identical ancestors’ might match a sequence motif somewhat misleading, and there point. Dr Jobling also outlined found to be enriched in hotspots. was a cycle of miscommunication of challenges with autosomal tests, After predicting binding motifs for expectations for timing and delivery. which can produce inaccuracies 693 human zinc finger proteins, Henderson said that scientists need and a lack of specificity. He also only PRDM9 was shown to be to manage expectations, “especially questioned the fine-scale accuracy strong match to the hotspot motif. from politicians who want the next of principal components analyses, More recently, Myers studied the big thing and from journalists who based on whole-genome SNP testing genome-wide binding of PRDM9 want a great story”. Another media when overlaying results onto the using ChIP-seq approach and found and public misconception is the map of Europe. Dr Jobling stated it binding sites in the genome where discovery of “genes responsible is nigh on impossible to not have any the identified motif is not present, for a disease”. Very often, the Viking ancestors in one’s phylogeny; implying that PRDM9 can bind media provide poorly presented similarly, it is near impossible to flexibly to distinct motifs. information in a simplistic and have all ancestors as Vikings. Myers has also been studying deterministic fashion. Henderson Dr Jobling’s projects use an population structures and initially suggested that scientists explain to approach based on population- showed that principal components journalists and the general public genetics, but when people volunteer analysis of UK individuals showed that genomics is a probabilistic for DNA testing, they want to know no strong regional separation. science rather than a deterministic about their individual ancestry. Instead, he used a method of one – and to remember that only Seeing how public data can be used fine structure modelling sharing very few people understand the and abused raises the question segments of DNA, “painting the concepts underlying genomics. “does it all need regulation?” Can genomes” of individuals from the The day concluded with an Q&A there be true anonymity in data that British Isles, and with knowledge session, followed by a wine is analyzed, stored and shared in of the fine scale recombination rate reception, with plenty of discussion databases such as Biobanks? identified genetic profiles that were generated by the day’s stimulating Our genetic history, and characteristic of different regions talks. Matt Hurles, Chris Ponting of the UK. Myers also “painted the and Bill Newman organised a the role of recombination genomes” of more than 95 different fantastic event, which brought Simon Myers from Oxford regions of the world to identify the together some of the field’s leading University was this year’s Balfour genetic legacy of past migration thinkers and helped further Lecturer. He started by describing and admixture events in the last our understanding of the latest chromosomal“crossover” during 3000 years. In general he found developments in genomics for health recombination as an essential it to be possible to predict where and society.
22 . GENETICS SOCIETY NEWS . ISSUE 69 23 GENETICS SOCIETY SPONSORED EVENTS
Workshop report: ‘Making human heredity: populations and public health in the postwar era.’ 28 – 30 June, 2012, Cambridge.
he workshop ‘Making human has always been deeply entangled population genetics were shaped Theredity: populations and public with the questions and practices by the infrastructures of postwar health in the postwar era’, was held of other biological disciplines, and international organizations—such in the Department of History and the workshop discussed the ways as the World Health Organization Philosophy of Science in summer in which these fields shaped the (WHO), which established, 2012. This was a history workshop, postwar study of human heredity. negotiated and coordinated the but involved historians eager to The meeting was organized collection and management of engage geneticists in the study of around several themes. The first data from globally distributed their discipline, so we were grateful concerned the technologies of populations. Finally we explored for the generous grant offered the sampling and the organisation how the organisation of surveys Genetics Society. of data, and how they shaped structured the production of The workshop brought together knowledge about human knowledge. We heard about the scholars from the US, Mexico, populations. Lisa Gannett (Saint relationship between epidemiology Canada, France, Germany, Spain Mary’s University, Halifax, and population genetics in Soviet and the UK, to discuss the ways that Canada) brought the discussion Russia (Susanne Bauer, University ‘population thinking’ shaped the up to the present day and showed of Frankfurt), and about the surveys study of human heredity after World how population categories carried out by the British Population War Two. used by forensic scientists in Investigation Committee (Edmund Ramsden, University of Manchester). Traditional versions of this history the US are incorporated into claim that after World War II the anthropological settings. Susan Lindee (University science of human heredity was A second theme concerned the of Pennsylvania) provided discredited through its association ways that written protocols, an insightful and synthetic with race hygiene and eugenics. registries, record cards, and commentary on the papers. All of ‘Race’, the story goes, was no longer computers shaped how data was these will be published as a Special a legitimate topic for scientific consolidated, controlled, and Issue of Studies in the History and research, and as a consequence made to yield inter-generational Philosophy of Biology and Biological medical genetics turned towards knowledge. This included a talk by Sciences. We were pleased to see one the individual. Soraya de Chadarevian (University or two Genetics Society members at the event; and hope that we But there is a new awareness of California, Los Angeles), who discussed how registries and can encourage more geneticists at among historians that populations history meetings in the future! were central to the postwar study population surveys shaped the not just of human heredity per development of chromosome se, but of cytogenetics, physical analysis in medicine. anthropology, epidemiology, public Third, we discussed how the health and demography. Genetics questions and practices of
The workshop brought together scholars from the US, Mexico, Canada, France, Germany, Spain and the UK, to discuss the ways that ‘population thinking’ shaped the study of human heredity after World War Two.
www.genetics.org.uk . 23 GENETIC SOCIETY SPONSORED EVENTS 24
Returning to the theme of 23rd Mammalian Genetics and establishment of mouse models for disease, Sarah Carpanini (MRC Development Workshop Human Genetics Unit, Edinburgh) 22nd November 2012, UCL Institute of Child Health. detailed studies of Rab18 mutant mice which represent a novel model of he Genetics Society’s annual Human Developmental Biology Warburg Micro Syndrome. TMammalian Genetics and Resource, which provides embryonic The last three talks focussed on Development Workshop was held at and fetal tissue for gene expression different functional roles of imprinted the UCL Institute of Child Health, studies and other research (Dianne genes. Malwina Niemczyk (Cancer London in November. The meeting Gerrelli, UCL). Research UK, Cambridge) showed was attended by members of a large The first talks after lunch focussed data on the complex regulation of number of groups from across the on the developmental role of genes expression and splicing of a long non- UK with talks covering a range of involved in the human syndromes, coding RNA present at the locus of topics pertaining to developmental CHARGE syndrome (Tian Yu, King’s the imprinted gene DIRAS3. biology and genetics of mammalian College London) and Cornelia de Another regulatory interaction, this systems. All the talks were given by Lange syndrome (Laura Bettini, time between an imprinted microRNA Post-Docs or PhD students, one of the University of Milan). and a protein-coding gene, Rtl1, aims of the workshop being to provide expressed from the same locus was opportunities for presenting at an We then had a series of talks on cilia and related disorders, ciliopathies. described by Sarah Allen (Cambridge external meeting, and there were a University). number of really superb talks. Daniel Grimes (MRC Harwell) discussed the mechanism by which Finally, Adam Prickett (King’s College The day started with a series of cilia at the node are required London) closed the meeting with presentations on developmental for determination of left-right this presentation on the role of the biology of different systems asymmetry and a possible functional imprinted gene Ddc in morphogenesis including tooth growth and the role of polycystins. Evidence for a of the developing heart. The speakers role of the tooth-bone interface role for altered FGF signalling in and attendees then enjoyed a well- (Sarah Alfaqeeh, King’s College the craniofacial phenotype of Fuz earned glass of wine (or two) while London), folate metabolism and mutant mice, a ciliopathy model, discussions continued.The prizes for neural tube development (Yun Jin was presented by Jacqueline Tabler best presentations went to Gwenn-Ael Pai, University College London), (King’s College London). We then Carre from MRC Harwell (Mammalian regulation of testis development heard about a novel mouse model Genome Prize), Gabriella Ficz from (Gwenn-Ael Carre, MRC Harwell) and displaying features of primary ciliary Babraham Institute, Cambridge and the relationship between cell types dyskinesia and abnormal cilia beat Daniel Grimes from MRC Harwell. in kidney development (Charlotte (Jennifer Keynton, MRC Harwell), Congratulations to all! The organisers Buckley, University of Edinburgh). owing to apparent gain of function are grateful for support for the The second session focussed largely of an axonemal dynein heavy meeting from The Genetics Society on epigenetics, starting with talks on chain. The final session began with and Mammalian Genome and to methylome analysis for identification presentation of middle ear defects in Genetics Research for publishing the of novel imprinted genes (Natasha Df1 heterozygous mice that represent Workshop abstracts. The 2013 meeting Carli, Cambridge University) and a new model for otitis media (Jennifer will be held on 21st November at the bioinformatics-based searching for Fuchs, King’s College London). Institute of Child Health in London, the sequence signals that determine Next, the potential role of somatic the usual venue. If any colleagues maternally imprinted CpG islands would like adding to the email list for (Heba Saadeh, King’s College mutation in disease was elegantly illustrated by the identification of the call for abstracts please let the London). Gabriella Ficz (Cambridge organisers know at University) then showed some very mutations, in NRAS, in patients with multiple congenital melanocytic [email protected] or interesting data on regulation of [email protected]. methylation by signalling pathways. naevi (Veronica Kinsler, UCL & Great The final pre-lunch talk was on the Ormond Street Hospital).
24 . GENETICS SOCIETY NEWS . ISSUE 69 GENETIC SOCIETY SPONSORED EVENTS regulation of expression and splicing of a long non-coding RNA present at the locus of the imprinted gene DIRAS3. Another regulatory interaction, this time between an imprinted microRNA and a protein-coding gene, Rtl1, expressed from the same locus was described by Sarah Allen (Cambridge University). Finally, Adam Prickett (King’s College London) closed the meeting with this presentation on the role of the imprinted gene Ddc in morphogenesis of the developing heart. The speakers and25 attendees then enjoyed a well-earned glass of wine (or two) while discussions continued. The prizes for best presentations went to Gwenn-Ael Carre from MRC Harwell (Mammalian Genome Prize), Gabriella Ficz from Babraham Institute, Cambridge and Daniel Grimes from MRC Harwell. Congratulations to all! The organisers are grateful for support for the meeting from The Genetics Society and Mammalian Genome and to Genetics Research for publishing the Workshop abstracts. The 2013 meeting will be held on 21st November at the Institute of Child Health in London, the usual venue. If any colleagues would like adding to the email list for the call for abstracts please let the organisers know at [email protected] or [email protected]. competition went to Harriet Johnson The Population Genetics Group from the University of Nottingham 18thThe Population – 21st Genetics December, Group 2012, University of Glasgow (comparative transcriptomics in the 18th – 21st December, 2012, University of Glasgow pond snail Lymnaea stagnalis) and provided additional funding. We Hans Recknagel (RAD-sequencing would very much like to thank all of based linkage mapping in Midas these sponsors. We also thank Martin cichids) from the University of Muir for help with the website and Glasgow. The best non-student talk logo design. The conference bags was awarded to Richard Nichols this year were “Charlesworth” tote from Queen Mary University London bags, which we hope that people can (variation in speciation time for use for shopping later. Also popular different parts of the genome in were the pens donated by Glasgow vertebrates), with second prize going The 46th annual meeting of the Population Genetics Group (PGG or PopGroup) took place at hethe University 46th annualof Glasgow from meeting December 18-21, of 2012.the This was the Polyomics2nd and the notebooks donated to Daniel Weissman from IST Austria meeting in the calendar year 2012 because the previous meeting had been in TNottinghamPopulation from January 4-7, Genetics 2012. The meeting Group is one of the Genetic Society’sby Heredity; we are very grateful for (patterns of diversity in adapting, special interest groups and so once again benefited from their generous support. (PGGMembers of or the PopGroup)Genetics Society receive took a discount place but the at Society the also providesthese contributions. spatially extended populations) and financial sponsorship. This year, we also obtained substantial support from the City Universityof Glasgow: the Glasgow of CityGlasgow Marketing board from provided December subvention funding to third to Samantha Lycett from the promote tourism in Glasgow (£3,000) and the Lord Provost’s Office sponsoredAlthough a the meeting originated 18-21,drinks and 2012.canapé reception This before was the conference the 2nd dinner. meeting The meeting was hosted University of Edinburgh (pandemic and supported by the Institute of Biodiversity, Animal Health & Comparative as a UK focus group, there has been Medicine (IBAHCM), College of Medical, Veterinary & Life Sciences, University of inGlasgow. the We calendar also obtained generous year support2012 for because prizes: Nature Reviews Genetics expansion and seasonal oscillations in provided cash prizes (in the form of whisky for the non-student competition) andincreasing interest from Europe the previous meeting had been in and further afield. This year, there influenza viral diversity). Nottingham from January 4-7, 2012. were 180 delegates in attendance, On the last day, all three student The meeting is one of the Genetic from 19 countries (Austria, Belgium, talks (Arvid Ågren, University of Society’s special interest groups and Finland, France, Germany, Ireland, Toronto, mating system shifts and so once again benefited from their Italy, Sweden, Turkey, UK, Russian transposable element evolution in generous support. Federation, Georgia, Australia, Brazil, plants in the mustard family; Alex Members of the Genetics Society Canada, India, Republic of Korea, Sri Ball, University of Bath, evolution of receive a discount but the Society also Lanka and the USA), with 1/3 of the parental care in Penduline tits; Toby provides financial sponsorship. This delegates students. The prizes for the Fountain, University of Sheffield, size year, we also obtained substantial best student presentations went to and genetic composition of founding support from the City of Glasgow: two of our international delegates: groups in bed bugs) were of very high the Glasgow City Marketing board Marie Kidd from the University of quality, so all were awarded book provided subvention funding to New South Wales, Australia, for the prizes. promote tourism in Glasgow (£3,000) best oral presentation, which was As per tradition, each day started and the Lord Provost’s Office on exploring variation at the human with a plenary talk. Mike Arnold sponsored a drinks and canapé immunoglobulin gene loci; and Kang (University of Georgia) opened the reception before the conference Chon Kim from Ewha Woman’s conference with a talk entitled: dinner. The meeting was hosted University in the Republic of Korea “Reproductive Isolation and and supported by the Institute for the best student poster, which was Introgression: Lessons learned (and of Biodiversity, Animal Health & on the genealogy of seasonal human being learned) from the Louisiana Comparative Medicine (IBAHCM), influenza virus (H3N2). Second Irises”, where he provided an College of Medical, Veterinary and third place for the student oral entertaining and interesting overview & Life Sciences, University of presentations went to Orly Razgour of his work on the use of these Glasgow. We also obtained generous from the University of Bristol (genetic plants as a model system to study support for prizes: Nature Reviews variation in relation to climate the role of hybridization and genetic Genetics provided cash prizes (in change in grey long-eared bats) and exchange in adaptive evolution. He the form of whisky for the non- Chris Kozak from the University provided prospectives from old and student competition) and journal of Cambridge (conflicting signals new types of data and highlighted subscriptions; Oxford University Press in the phylogeny of Heliconiini how continuing advancements in and Roberts & Company Publishers butterflies), respectively. Second and technology have altered our views, donated books and The Royal Society third prizes in the student poster not just the dramatic changes in
www.genetics.org.uk . 25 GENETIC SOCIETY SPONSORED EVENTS 26
Popgroup47 will be held at the University of Bath, January 7-10, 2014. the past few years that have been viewed over lunches and during the your own” Cranachan, which is a introduced by genomic approaches. poster session on the first evening, traditional Scottish dessert including On the second day, Charlie Baer with a piper welcoming delegates to cream, raspberries, shortbread and (University of Florida) gave a talk the evening. The quality of posters whisky. After a rather confused entitled: “Exploring the mutational was again high and covered a wide awarding of prizes (mix-up in not landscape in Caenorhabditis”, where range of interesting topics. one but two names), the evening he talked about a more traditional As usual for popgroup, there was continued with an entertaining model system but discussed his work a strong emphasis on the social ceilidh (sponsored by the Genetics on using them to understand the side of conference attendance. Society), called and played by the role of mutational accumulation The conference opened with an Coila Ceilidh band. The evening ended across a range of life history and information session on the Tuesday for many in the early hours of Friday physiological traits. Rod Page evening given by Terry Burke, who morning at a local church, Oran Mor, (University of Glasgow) ended the heads the NERC Biomolecular which is in fact now a popular whisky conference with an intriguing but Analysis Facility. This was followed bar in Glasgow’s Westend! somewhat controversial talk entitled: by a drinks and finger food reception There were remarkably few problems “Why I write blogs instead of writing at the Jurys Inn in Central Glasgow, with AV equipment, at least partly papers”. While not all agreed with his where many of the delegates were due to our team of volunteers, viewpoint that we are on the brink of staying (sponsored by NBAF and who ensured that everything ran a dramatic shift towards open access IBAHCM). The hotel did their best smoothly. Most are members of the communication without traditional to keep up with demand but they Evolutionary Analysis Group (EAG) journal boundaries, the talk was didn’t seem used to the optimal (i.e. at Glasgow (Will Harvey, Jimena thought provoking for all. frantic) foraging strategies that take Guerrero-Flores, Hans Recknagel, Breaking slightly with tradition this over at such events. There also could Elizabeth Kilbride, Alan Reynolds, year, the plenary sessions each day have been another study on foraging Kathryn Elmer, Joseph Hughes and were followed by a coffee break, before behaviour the following evening, Thorsten Stefan), but also included starting on the three concurrent when a buffet dinner at a local pub some helpful undergraduates (Liam sessions that ran throughout the rest (Curlers Rest; sponsored by Glasgow Templeton, Jennifer Freer, Jennifer of the day. Once again, the quality City Marketing Board) followed the Port and Ryan Carter). of science and presentation styles poster reception. James Buckley The local organisers (Barbara Mable, was exceptional, particularly among heroically tried to manage the buffet James Buckley and Anna Muir) student talks. Of the 61 students and defend the vegetarian table but in thank them very much for their who attended, 35 gave talks and 23 the end there was more than enough help. The conference also gave us presented posters. food to go round! The alternative the opportunity to bring in some Sessions were roughly divided into that evening was a relaxed dinner at new members to popgroup from themes, with talks on host-parasite an Italian tapas restaurant (La Vita Glasgow, who had not normally interactions, genomic approaches Spuntini, sponsored by the Genetics attended the meeting (particularly in to investigating adaptation and Society), but most people chose the disease ecology and epidemiology). population structure, and population full social experience of the buffet. We would also like to thank all of genetics theory running concurrently The conference dinner was held on the session chairs and speakers for during many of the time slots. Other the Thursday evening. keeping so well to time. Finally, broad themes included population This was preceded by a drinks and we would like to thank Glasgow genomics and speciation, mating canapé Civic reception that was Conferences and Visitors Services, system evolution, the evolution of sponsored by the Glasgow Lord Glasgow City Marketing Board, domestication, and phylogeography, Provost’s office. Bailey Jonathan Saltire catering, Jurys Inn, Florence with talks covering a broad range Findlay welcomed the delegates McGarrity, the Glasgow University of organisms from viruses to sheep! to Glasgow, and the director of Union, the janitors in the Wolfson Posters were displayed in a different IBAHCM, Dan Haydon, gave the reply. Medical School Building and Curler’s location from the main talks (at the The dinner was catered by Saltire Rest for their assistance with various Glasgow University Union) and were Hospitality and included “make aspects of organisation.
26 . GENETICS SOCIETY NEWS . ISSUE 69 GENETIC SOCIETY SPONSORED EVENTS 27
3rd UK RNA Splicing Workshop of splicing patterns in health and disease, in both humans and 1 – 3 February 2013, Rydal Hall, Cumbria, UK. model organisms. We also had some great talks on other aspects of nuclear RNA processing which tie in with or happen at the same time as splicing. The different approaches being used were very diverse, ranging from transcriptome analysis to biochemistry, genetic screens to whole organism biology and atomic resolution of protein and protein-RNA complexes. There was also a lot of interest in drugs and small molecules which can be used to modulate splicing, both to understand mechanisms and also as potential therapies. We had a packed programme over the he 3rd UK RNA splicing for the UK groups interested in weekend, including 34 exciting 15 Tworkshop took place in Rydal this process to get together. The minute presentations each followed Hall, February 1st-3rd, organised by programme was arranged entirely by a lot of discussion. We also took David Elliott and Chris Smith, and on submitted abstracts, and had advantage of being in the heart of sponsored by the Genetics Society. focussed sessions on the areas the Lake District with a fell walk RNA splicing is of key importance each group was concentrating on Saturday afternoon in beautiful for genetics, since almost all on, and good opportunities to sunshine (we could even see the Sea human and other vertebrate genes discuss recent data. The talks in the distance). The 2015 workshop contain introns which influence ranged from basic mechanisms of is being organised by Chris Smith their expression. This workshop splicing and alternative splicing (Cambridge) and Ray O’Keefe provides an invaluable opportunity to transcriptome-wide analysis (Manchester).
talks concerning genome variation. British Yeast Group Meeting The first day finished with the 20th – 22nd March 2013, University of Nottingham. Genetics Society sponsored keynote lecture delivered by Charles Boone he 36th annual British Yeast by Ed Louis. Carl was chairman of (University of Toronto) titled “The TGroup meeting took place Singer Instruments who pioneered Genetic Landscape of a Cell”. He from the 20th-22nd of March in the design of high throughput described how his lab has been Nottingham. The 2013 meeting was robots and micromanipulators for generating double deletions in held at the Britannia Hotel in the tetrad dissection. Many groups and Saccharomyces cerevisiae. With ~18 city centre near the historic castle projects have benefitted from the million combinations to test, the site. Co-organisers Carolin Müller automation Singer Instruments project is ambitious in scope and and Conrad Nieduszynski from the provide and Carl had a large role has already revealed much about University of Nottingham arranged in shaping the company. He will the degree of genetic interactions a programme encompassing talks be much missed at yeast meetings. between different processes. from students and post-docs as well The first sessions were contrasting; The highlight of the second day as key figures in the field. details of centromere, kinetochore was the presentation of The The conference began with a moving and heterochromatin function were Genetics Society Medal Lecture tribute to Carl Singer (1945-2013) followed by a range of larger scale “Establishing and maintaining
www.genetics.org.uk . 27 GENETIC SOCIETY SPONSORED EVENTS 28
prizes were Kitty Verzijlbergen (University of Edinburgh) and Torben Kasparek (University of Oxford). The social side of the meeting was also well served with a Singer Instruments sponsored beer tasting session and a conference dinner at the award-winning MemSaab restaurant. The meeting was rounded off by an excellent final session on chromosome biology that featured the prize-winning talk by PhD student Akila Sridhar from the University of Aberdeen. The SGM Microbial Communication prize specialised chromatin domains” by beaming recipient. The annual went to post-doc Toyoaki Natsume Robin Allshire from the University award is for outstanding research from the University of Dundee. of Edinburgh. Robin spoke about contributions in genetics and it The meeting could not have been the “epigenetic determinants” was an honour for the British Yeast run without the generous support of of centromeres and kinetochore Group meeting to host the lecture many sponsors and the hard work assembly and described the and presentation. To celebrate there of the organisers. We are grateful deposition of centromere was a wine reception generously to the University of Exeter for specific H3 variant CENP-A in sponsored by the Genetics Society. hosting the 2014 meeting which will centromeric chromatin. Amongst the seven sessions of talks be organised by Ken Haynes with Following the talk, Genetics Society there were two active poster sessions assistance from Stephen Aves and President Enrico Coen presented and chances for networking and Jane Usher. The Genetics Society Medal to a discussion. Winners of the poster
Next Generation Sequencing for Plant Science: the Arabidopsis Sectional Interest Group meeting 26 November 2012, University of Liverpool.
he 2012 meeting of the from all over the UK, including bottleneck in big science is not data TArabidopsis Sectional Interest students, post-docs, and PIs. Many generation but data analysis. Crowd- Group of the Genetics Society was more people were able to follow the sourcing data analysis, as done in held at the University of Liverpool workshop online by following the the Earth Microbiome project, will on 26 November 2012. GARNet, the Twitter hashtag #ngsplant. be a valuable resource in the future. UK Arabidopsis research network The first speaker was Neil Hall Hall highlighted the November (http://www.garnetcommunity.org. (the University of Liverpool), who 2012 issue Nature Biotechnology, uk/), organised the meeting, which introduced the workshop delegates which is a focus on DNA sequencing was a workshop on the applications to next generation sequencing technology, as an excellent source of of next generation sequencing (NGS) by going over past, current, and information on NGS. in plant science research. Speakers potential future NGS technologies. From then on the meeting was travelled from the UK and Europe He noted that with so many options full of real examples of new and to present their work to 90 delegates available for sequencing, the exciting plant science for which
28 . GENETICS SOCIETY NEWS . ISSUE 69 GENETIC SOCIETY SPONSORED EVENTS 29
NGS played an integral part. Klaus Mayer (HelmholtzZentrum noncoding RNAs. In fact the data Arthur Korte, from the Nordberg München) followed with a talk generated by his group led him group at the Gregor Mendel on crop genome sequencing and to call for the re-annotation of Institute, Austria, presented analysis. He presented the ‘gene the Arabidopsis thaliana genome some results from the prolific maps’ his lab has generated of (Sherstnev et al. 2012; Nature Struc. 1001 Genomes Project (http:// major crop species, using genome Mol. Bio. 19:845-52). www.1001genomes.org/). The zipping and gene traps (e.g. Mayer Finally Tom Hardcastle from David project demonstrated how much et al. 2011; The Plant Cell 23:1249- Baulcombe’s lab at the University of there is still to learn from genomics 1263), which as he says, “look like a Cambridge discussed genome-wide because, as Korte said in his talk, genome, taste like a genome …” analysis of cytosine methylation in “Even the simple Arabidopsis Nick Kent (University of plant DNA. He developed baySeq thaliana genome may be more Cardiff) then presented his (Hardcastle and Kelly, 2010; BMC complex than we thought.” method of mapping chromatin Bioinformatics 11:422) to define Anthony Hall (University of structure in Arabidopsis. patterns of differential expression, Liverpool) trailed a paper that He sequences chromatin partially and now uses it to fine-tune the was published the week after the digested by micrococcal nucleases sodium bisulphite sequencing workshop (Brenchley et al. 2012; directly using paired-end mode method of methylation mapping. Nature 491:705-710). He described next-generation technology, and The day was packed full of SHOREmapping, or simultaneous then maps the paired sequence reads demonstrations of the goldmine of mapping and mutant identification, to the target genome (Kent et al. information NGS provides, however and how it is used to find mutations 2011; Nucl. Acids Res. 39:e26). This as highlighted by one of the meeting in Arabidopsis genomes. He went on identifies the size and location of organisers, Anthony Hall, there to explain how the BBSRC-funded the nuclease-protected chromatin just wasn’t enough time to squeeze Wheat Consortium analysed the particles on the genome. in a session on bioinformatics. bread wheat genome, and how they The next two speakers were both Analysing data generated by hope to develop a SHORE approach NGS requires specialist skills and to map a mutant in wheat. from the University of Dundee, and both spoke on RNA sequencing. software, not to mention enormous The next speaker was Paula First, John Brown discussed the use computing power. The GARNet Kover (University of Bath), who of RNA sequencing (RNA-seq) to committee is looking into possible presented the Multiparent Advanced research the regulation and effect future workshops to help inform Generation Inter-Cross (MAGIC) of alternative splicing of mRNA in the plant science community about Arabidopsis lines generated by response to environmental cues. NGS bioinformatics analysis. Kover and colleagues (Kover et Check the GARNet website for al. 2009; PLoS Genet. 5:e1000551) His results show 51% of Arabidopsis updates if you would be interested allow accurate identification of genes produce alternatively spliced in a resource or event linked to QTL. Kover presented her efforts transcripts that do not involve bioinformatics for NGS. to characterise the genetic basis of intron retention, and led him to natural variation in flowering using identify ‘cryptic introns’ inside MAGIC lines. coding exons that may play a role in protein diversity (Marquez et al. 2012; After lunch, Eva-Maria Willing Genome Research 22:1184-95). (MPI Plant Breeding Research) kicked off the afternoon session Gordon Simpson spoke next on his with a presentation on comparative work with direct RNA sequencing, ‘omics in Brassicaceae genomes. which differs from RNA-seq because Deep sequencing of Arabidopsis there is no cDNA synthesis step. thaliana, Arabidopsis lyrata, and This method enabled him and Arabis alpina genomes enables the co-workers to put together a group to study conservation and transcriptome with unprecedented variation among the related species. detail and to discover unrecognised
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S Ponsuksili, K Wimmers et al
RT-PCR compared to microarray data
Expression quantitative trait loci analysis of genes in porcine muscle by quantitative real-time
W Vu & S Nuzhdin
Genetic variation of copia suppression in Drosophila melanogaster
D W Loehlin, L S Enders & J H Werren
Evolution of sex-specific wing shape at the widerwing locus in four species of Nasonia
T Leinonen, J M Cano & J Merilä
Genetic basis of sexual dimorphism in the threespine stickleback Gasterosteus aculeatus
M J Sillanpää
relatedness in genomic data association analyses
Overview of techniques to account for confounding due to population stratification and cryptic
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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
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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: Informal interviews are used to You can listen by A C Brennan, D Barker, S J Hiscock and R J Abbott The free Heredity a study of Senecio squalidus (Asteraceae) make the science in Heredity more • entering ‘heredity podcast’ Heredity (10 August 2011) | doi:10.1038/hdy.2011.46 A C Brennan, D Barker, S J Hiscock and R J Abbott podcasts provide accessible. The authors explain the into your search engine Heredity (10 August 2011) | doi:10.1038/hdy.2011.46 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’). Download Download& discover. Enquiries to the podcast editor [email protected] 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 www.genetics.org.uk . 33 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
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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. TRAVEL GRANTS FOR 35 JUNIOR SCIENTISTS
13th International Deep-Sea Biology Symposium 3 – 7th December 2012, Wellington, New Zealand
Lyndsey Holland . University of Exeter
ast December, deep sea biologists researchers with access to equipment their life history strategies; pelagic Lfrom twenty seven countries mere graduate students can only larval producing Munida gracilis convened in the impressive Te Papa dream of getting their hands on! squat lobsters show no evidence Museum of New Zealand in windy The genetics-based talks were for connectivity whereas direct- Wellington for the 13th International primarily based around exploratory developing quill worms Hyalinoecia Deep-Sea Biology Symposium. assessments of biodiversity, evidence longibranchiata do between New After a traditional Maori welcome for speciation and connectivity Zealand’s Chatham Rise, Hikurangi and housekeeping instructions between deep sea habitats using Margin and Challenger Plateau (C01 including what to do in the event of phylogeography and population data, Bors et al.). Combined C01 and an earthquake, the conference was genetics, addressed using, for microsatellite data have reassessed underway with what became five example, microsatellites or CO1 taxonomy of Alvinocarididae shrimp days of inspiring and career choice sequence data. This was perfect endemic to chemosynthetic habitats, affirming presentations. for the context of my research in and shown that there is likely recent The highlight was perhaps one of the which I am attempting to assess connectivity between Mid Atlantic most high profile keynote speakers octocoral connectivity in the cold Ridge hydrothermal vents and colds I’ve ever seen, film maker and deep waters of the south west. We leant seeps on each side of the Atlantic sea explorer James Cameron, who that strong homozygote excesses are (Texeira et al.). Combined approaches gave an awe inspiring account of shared and allelic richness differs using hydrodynamic modelling and his recent successful descent to in different canyons in the Bay of sequence data have demonstrated the Mariana Trench in his custom Biscay in the threatened deep-water low connectivity but high genetic submarine the Deepsea Challenger. coral Lophelia pertusa, indicating diversity regardless of life history Subsequently, under strict structure (with microsatellites, strategy between corals and squat instructions to not secretly film any Becheler et al.), whereas other lobsters on Tasman Sea mounts of the footage as it would certainly deep sea animals such as Pacific (Miller et al.). upset National Geographic, we were hydrothermal vent crustacea may The most exciting connectivity treated to some of his findings. At be homogeneous over thousands pathway outlined is the “L this point most of the room turned of kilometres (C01 data, Beedessee superhighway”, a proposed dispersal visibly green with envy, although et al.). Some taxa appear to show route that explains the global this conference was not short of expected connectivity patterns given distribution of ubiquitous deep sea ophuiroids that are identical (genetically) in Australasia and The highlight was perhaps one of the most high the NE Atlantic. This hypothesis is supported by recent deep sea profile keynote speakers I’ve ever seen, film maker expeditions (Ophiomyxa vivipara and deep sea explorer James Cameron, who gave species complex, O’ Hara). Despite an awe inspiring account of his recent successful a relative prevalence of connectivity research, some results presented descent to the Mariana Trench in his custom were based upon newer methods submarine the Deepsea Challenger. and highlighted the use of genetic
www.genetics.org.uk . 35 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 36
methods in environmental surveys. For example, RNA-based Neurofly 2012 metatransciptomics have been used to determine foraminiferal 3 – 7 September, 2012, Padua abundance in deep-sea sediment Emanuela Zaharieva . University of Birmingham (Lejzerowicz et al.) and DNA-based metageetics were employed to assess meoibenthos in abyssal sediment rosophila melanogaster has mediated neuroexocytosis and on (Sinniger et al.). Dbecome a prime animal model the mechanisms of neurotoxicity for the study of neurobiology. by inhibition of neurotransmission I presented a poster at this Powerful genetic tools developed at the synapse by tetanus and conference, which was a great way for this organism have been botulinum neurotoxins. to talk more informally to interested instrumental in deciphering parties and researchers I wanted The development and differentiation molecular pathways and events session span across various themes to meet. As the poster session was underlying the development, held on the first evening, there was such as the role of glia in generation maintenance and degeneration of and differentiation of neural stem also plenty of time for browsing the nervous system. One of the other research as the week went cells; identification of neurotrophin most important and influential receptors in Drosophila; mechanisms on. Some of the posters highlighted conferences in the field of the next steps in deep sea genetics, of dendrite development; Drosophila neuroscience is the identification of novel tumor including development of RAD tag European Drosophila Neurobiology SNPs to elucidate evolution in the suppressors in flies and mechanisms Conference, or “Neurofly”, which of axon regeneration. bubblegum gum coral (Paragorgiidae, this year was held in the beautiful Herrera and Shank) and the use of Italian city of Padova. This session began with a plenary mitogenomics to determine octocoral lecture by Prof. A. Giangrande from phylogeny (Figueroa and Baco). Delegates were welcomed by the Strasbourg University, France on the Mayor of Padova and the conference mechanisms of gliogenesis where On the final evening, a drinks was opened with a plenary lecture reception was held at nearby City a novel type of regulation of the by Prof. T. Pozzan of the University GLIDE/GCM developmental pathway Gallery, which showcased the work of Padova on fluorescence-based of artists invited to participate in further elucidated determinants of methodologies for visualization of glial and neuronal cell fate choice. a research cruise to the Kermadec second messenger dynamic changes region. This gave further opportunity in living cells. The neuronal circuits and behaviour for networking and of course to try and sensory systems sessions included some New Zealand food and wine. The conference comprised seven a large number of presentations on The conference was truly inspiring comprehensive consecutive the genetic mechanisms underlying and I felt lucky to be able to attend sessions covering a total of 287 of the fly’s ability to perceive and which was made possible thanks to abstracts thematically divided into react to external stimuli, where the Genetics Society. Incidentally, the the following topics: the synapse; topics centered around identification morning after the conference ended, development and differentiation of of novel neural circuitry pathways most of Wellington was shaken the nervous system; neuronal circuits governing perception and response by a 5.8 magnitude earthquake and behaviour; sensory systems; to light, different odors and that occurred near to Tokoroa on channels and receptors; and disease. temperatures, as well as those the North Island. An alarm call The synapse session covered topics underlying courtship, food-related of a shaking top floor room was on neuron circuit formation and behaviour and behaviour during something I’ll also not forget in a neurotransmission mostly visualized flight. In particular, the neuronal hurry! at the neuromuscular junction and circuit session began with a plenary began with a plenary lecture by Prof. lecture by Prof. J.F. Ferveur of the C. Montecucco of the University University of Burgundy, France on of Padova on the molecular pheromone production and perception mechanisms of SNARE complex- in Drosophila.
36 . GENETICS SOCIETY NEWS . ISSUE 69 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 37
This session also included a The channels and receptors session Charcot-Marie-Tooth 2B disease; plenary talk by Prof. S. Fry covered many aspects of neuron muscular distrophy; Alzheimer’s and from Scritracks, Germany who excitability like identification of Parkinson’s disease; as well as novel spoke about the implications of substances that block specific Drosophila anxiety and cognition Drosophila’s sophisticated flight receptors which results in models. The session included a control mechanisms in the design functional decline; identification plenary lecture by F. Giorgini of biomimetic robots of the future. of mutants of certain channel from Leicester University, UK on In his presentation Prof. Fry showed associated with the occurrence of targeting the kynurenine pathway that application of a “behavioural seizures; identification of novel in Drosophila for the development of reverse engineering approach”, mechanisms underlying neuronal novel models for neurodegeneration. where the fly’s speed of flight homeostasis implicated in memory To conclude, the 2012 Neurofly changes in response to the speed of formation and learning potential. conference offered extensive insights the moving environment, can help The session began with a plenary into a large number of topics in understand fundamental functional lecture by Prof. S. Sigrist from the today’s Drosophila neuroscience principles of flight with the potential Institute for Biology/Genetics in research. I would like to thank the for bionic applications. Berlin, Germany on the assembly of Genetics Society for giving me the The sensory systems session began synapse structure and function. opportunity to attend this event with a plenary lecture by Prof. The disease session included where I not only had the chance to C. Desplan from the Department a number of abstracts on the learn about the research of some of Biology at NYU, USA on the development, establishment and of the leading figures in Drosophila transcriptional control underlying usage of Drosophila in the study of neuroscience but also present my the generation of neuronal diversity human neurodegenerative diseases. own work. in the Drosophila optic lobes. Topics spanned disease models for
www.genetics.org.uk . 37 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 38
Keystone Symposia: DNA Replication and Recombination 3 – 8 March, 2013, Banff, Canada
Kayleigh Wardell . University of Nottingham
he Keystone Symposia “DNA reception followed by the Keynote Workshop sessions were held in the TReplication and Recombination” session. Frederick Alt (HHMI/Boston afternoons, which featured short was held in the Fairmont Banff Children’s Hospital) spoke about talks given by speakers selected Springs Hotel (Alberta, Canada) V(D)J recombination and genomic from poster abstracts. These were from the 3rd – 8th of March 2013. The instability. Kenneth Marians predominantly PhD students and hotel, nicknamed “Canada’s castle (Memorial Sloan-Kettering Cancer Postdocs. I was fortunate enough to in the Rockies” is exactly what its Center) spoke about reactivating be selected to present in one of these name suggests – a beautiful hotel replication forks stalled by damage workshops and I spoke about a novel modelled on a Scottish baronial in the leading-strand template. For DNA repair protein in the archaeon castle! The conference was held the remainder of the conference Haloferax volcanii. I was grateful for towards the end of winter, and many there were both morning and the opportunity to present my work attendees took advantage of this to evening sessions featuring talks by at such an esteemed conference. ski during conference breaks. The key figures in the field. When not in sessions we took rest of us were content to stay warm Sessions included “Mechanisms the opportunity to visit the local and look at the spectacular views of and Control of DNA Repair / town of Banff, a short walk from the snow-covered Rockies. Mechanisms of Homologous the hotel. We also had Wednesday The conference organisers James Recombination” and afternoon free and a group of M Berger, Wolf-Dietrich Heyer “Postreplication Repair / us went on a hike through the and Julia Promisel Cooper put Restart”. Talks that particularly Johnston Canyon in the Banff together an excellent program. It interested me included Stephen National Park. The canyon contains was held jointly with the conference C Kowalczykowski (University of seven waterfalls all of which were “Genomic Instability and DNA California, Davis) who spoke about frozen due to the winter weather! Repair”, organised by Stephen P studying recombinase paralogues On the final night the conference Jackson, Alan D D’Andrea and using single-molecule techniques, held a dinner and party which was Susan M Gasser. In total there Simon J Boulton (London Research a great opportunity to unwind and were approximately 700 attendees, Institute) who spoke about RECQ relax after a busy week. Overall, I making it the largest conference I helicase, which is involved in had a great time at the conference have attended. A number of talk DNA interstrand crosslink repair and would like to thank the sessions were held jointly between and David Sherratt (University of organisers for arranging such a rich the two conferences, as well as Oxford) who spoke about using and vibrant program. social hours and poster sessions live cell imaging techniques to each day. The conference started study the movements of individual on Sunday evening with a drinks components of the replisome.
I was fortunate enough to be selected to present in one of these workshops and I spoke about a novel DNA repair protein in the archaeon Haloferax volcanii. I was grateful for the opportunity to present my work at such an esteemed conference.
38 . GENETICS SOCIETY NEWS . ISSUE 69 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 39
Using the Mouse as an Instrument for Ear Research V 30 September – 4 October, 2012, The Jackson Laboratory, Bar Harbor ME, USA
Lea Carrott . Medical Research Council Harwell and University of Oxford
ollowing on from the success this project is to progress from the also a practical session to learn inner Fof previous meetings, The initial gene targeting to breeding mice ear and cochlea micro-dissection Jackson Laboratory hosted deafness with a homozygous region of interest for SEM; this session was very researchers from far and wide to in less than 8 months. Michael Wiles challenging and gave me an insight discuss recent developments using from the Jackson Laboratory followed into the benefits and drawbacks of mouse models of hearing loss. The this up with a discussion on TALENs, a different approach to a technique meeting was structured to contain which act in a similar manner to that I regularly perform. The third lectures and technical workshops, ZFNs. Wiles alluded to TALENs day consisted of a short session on allowing for attendees to learn new ability to work at high frequencies, hair cells and stereocilia, followed by approaches from the researchers who but also the risk of mosaicism a brown bag lunch trip on a lobster pioneered them. Over ten sessions, associated with the technique. The and seal watching vessel! The trip a diverse selection of research was overview of these newer technologies provided a relaxed atmosphere where delivered, including approaches to was very informative and gave we were able to talk to other attendees discovering new deafness genes, inner considerable insight into the way the and learn about the history of Bar ear and neurosensory development, field will likely progress with respect Harbor. Back on dry land, after a brief gene therapy, fluid dynamics, cell to transgenic animals in the future. session looking at MET channels damage, and mouse model discovery. In the afternoon we were able to and mechanotransduction, students My current research is focussed on participate in a tutorial delivered by and early post-doctoral researchers characterising a novel mouse model Kevin Ohlemiller on the assessment were given the opportunity to present of sensorineural deafness with a of endocochlear potential and lateral posters and all attendees to take part severe vestibular defect. This meeting wall function, as well as a session on in a practical session where you could not only provided an exciting chance behavioural and electrophysiological learn to culture hair cells, led by to practise new techniques and learn methods instructed by Amanda Lauer Guy Richardson of the University of more about research within the wider and Sherri Jones, respectively. Both Sussex. Both sessions were great fun, deafness community, but also gave me sessions were highly informative. particularly the poster session where the platform to present my work and On the second day there were three I was able to explain my research and receive feedback on the direction in sessions, addressing inner ear and received advice to help me overcome which I’m moving. neurosensory development, fluid obstacles I’ve encountered. The development of new transgenic dynamics and discovery of new On the final day there were three and genomic modification techniques deafness genes. Highlights included sessions exploring cell damage, to design mouse models was a hot Philine Wangemann’s talk on the mouse models for deafness, and topic of discussion on the first role of Pendrin in regulation of the gene therapy. I was fortunate to day, with Cui Xiaoxia from Sigma endolymph and Arnaud Giese’s be given a 15 minute slot in the Aldrich providing an overview of presentation of work recently second session to present work I’ve their approach to zinc finger gene published by Zubair Ahmed’s group, been undertaking at MRC Harwell, targeting and mutant generation identifying CIB2 as a novel type characterising a new mouse model of across areas of therapeutic interest. 1J Usher gene, detectable in two early onset sensorineural deafness. Using a library of two finger modules, human populations. Following lunch, I found talking about my research which they use in combination to we were able to participate in two exceptionally nerve-wracking as I’d generate highly specific four finger sessions. The first, a tutorial in 3-D never presented work externally zinc finger nucleases (ZFNs), DNA can paintfill technique and assessing before, but the experience was overall be excised(knocked out) or inserted semi-circular canal function, was very very positive and I was able to gain (knocked in) as required. The aim of engaging and intuitive. There was feedback and external perspectives
www.genetics.org.uk . 39 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 40
towards my research from field the importance of mice as a model section of innovation, experience, and leaders. I would like to thank the for hearing loss, whilst presenting feedback, thereby providing clarity Genetics Society for the generous my work enabled my first focussed to the direction in which the field is training grant they provided to interaction with an audience from progressing. This will be invaluable support my attendance at this across the deafness field. for planning the work I intend to workshop. The workshop provided The diversity of research undertaken undertake in the future. a dynamic setting for discussing by attendees provided a wide cross-
The American Society of Human Genetics 62nd Annual Meeting 6 – 10 November, 2012, San Francisco, California, USA
Barbara Ottolini, Angelica Vittori, Shamik Polley . University of Leicester
eneticists from all over the world the scientist as citizen of the world. informal conversation about scientific Ggathered in San Francisco, We found this plenary lecture highly topics normally far away from our area California, USA for the American motivating, being all of us foreigners of investigation. Society of Human Genetics studying in UK. On November 9th I followed the Meeting 2012, from November 6th to After the conference opening, session “Population Genetics November 10th 2012. With more than we all went to a buffet opened to Genome-Wide” and I then used the 7500 participants, this conference was all the registrants, where we had lunch break time to meet one of a great opportunity to be part of the the chance of being introduced our collaborators from UCD, Mike cutting edge of scientific research to different scientists, and to feel Hornsby, now employed at the and PhD students, to meet and part of the international scientific UCSFMission Bay campus. It was discuss our projects with experts in community, in an informal yet a great occasion to discuss about our fields of investigation. stimulating environment. science and to visit the Mission Bay Our PhD projects focus on different For me particular highlights were campus and some of their most areas but they all root from the a session on “Insights into Human amazing research facilities provided same interest on the mechanisms of Demography and Selection from Full by close collaborative working with formation, establishment and effects Genome Sequencing” and a session the biotechnology industry. of copy number variations (CNVs) on “Chromosomes and diseases”. on the genome. This topic was widely Angelica Vittori The first session was chosen for my I am studying copy number variation discussed during all the duration of interest in population genetics, as it is the conference under different angles. and neurodegenerative disease and important for me to know more about it has been really difficult to be in Barbara Ottolini this topic to deal with the evolutionary contact with other researchers who I used this opportunity to give a aspect of my project, and the second are working in this field. This was research seminar at the University to learn more about newly discovered possible at the annual American of California Davis, on November pathogenic CNVs and about the Society of Human Genetics meeting. 6th, on the evolution of copy number phenotypic effects of chromosomal structural variations. Every day choosing the sessions to variation on the rhesus macaque attend was really challenging because beta-defensin region. This was an In the afternoon the poster session there were different talks of relevant excellent opportunity for me to meet opened: the view of the poster hall, interest regarding copy number my collaborators and to have a fruitful with more than 3000 posters, from so variation or neurodegenerative scientific discussion about my project many diverse scientific fields, was diseases. The second day of the and the current interests of their really mind-blowing, as it represented conference I attended the morning research group. We returned in San greatly the collective efforts of the session titled: “Metabolism, Metals, Francisco in time to see the plenary international scientific community and Neuro-degeneration: Toward lecture that opened the ASHG meeting for the progress of science. Moreover, Enhanced Understanding of 2012: Mary-Claire King spoke about it was an opportunity to engage in Disease Mechanisms and Rational
40 . GENETICS SOCIETY NEWS . ISSUE 69 TRAVEL GRANTS FOR JUNIOR SCIENTISTS 41
Therapeutics”. The talks covered conference and also presenting a application of exome sequencing several neurodegenerative diseases poster. Attending international and as well as high-throughput and related metabolic dysfunction conferences usually means travelling functional analysis of non-coding occurring in the central and peripheral with colleagues and getting the chance areas of DNA. Another talk from nervous systems. The entire session to bond with them in a total different David Valle, Johns Hopkins University was really interesting and inspiring level. Surrounded by hills the location presented the application of next- considering that I dedicated part of of San Francisco on the coast of the generation technologies to Mendelian research work on metabolic aspects of Pacific Ocean was breathtaking. disorders. He also included primary Huntington’s disease. As the meeting was large, the range of research results, advances and The third day with all the lab members topics was varied so I like to highlight ongoing challenges in phenotype we attended the morning session some interesting talks. In the 2nd curation, sequencing technology, chaired by our supervisor Ed Hollox, day of the conference I attended and data analysis. On my flight back, regarding “Common and Rare CNVs: the session “Age-Related Macular I was lucky enough to discuss my Genesis, Patterns of Variations and Degeneration–GWAS and Beyond: project with Prof. Han Brunner. He Human Diseases”. I really enjoyed the Guiding Light for the Complex also discussed regarding rules of talk by Chack-Yung Yu (Nationwide Neurodegenerative Diseases”. publication and multiple rounds of Children’s Hospital and the Ohio State Numerous groups worldwide revision in publishing process in good University, Columbus, Ohio) about explained importance of genetic journal. It was an extra experience copy number variation of complement linkage and genome-wide association apart from ASHG experience and will C4, which was the “Achilles’ heel” studies (GWAS) for identifying help in my future scientific career. of my PhD project. Still in the same genetic susceptibility loci in AMD. The conference venue was incredible. session, we listened at Jim Sikela’s In particular, recent studies have I was overwhelmed with lots of things talk regarding his interesting work on validated the strong association of but the facilities and the view of the CNVs of DUF1220-domain linked to variants at CFH and ARMS2/HTRA1 conference center were really special. cognitive disease and brain evolution. loci with AMD risk, and genome-wide I was definitely amazed by how This was one of the highlight of association studies have suggested excellent organisation seemed to work, the conference for me, I found the involvement of complement, with talks on all aspects of human really interesting to know in details extracellular matrix, angiogenesis and genetics in different halls in the about the method for identifying HDL cholesterol pathways underlying same place. DUF1220-domain copy number and pathogenesis of the disease. The meeting was a remarkably its implication in human brain-size Thursday morning began with an intense opportunity to attend pathology. After the talk I had the exploration of the impact of CNVs an international conference and opportunity to speak to Jim Sikela and on the genome. A series of talks on hear talks from renowned human discuss his work. “Common and Rare CNVs: Genesis, geneticists about the rigorous nature The following days I learnt more about Patterns of Variations and Human of research at this level was one the progression of next generation Diseases” were given. The session that has enthused and inspired our sequencing, exome sequencing and covered the types of CNVs, the group. We learnt about new aspects large data set analysis, which were complexity of common CNVs and of human genetics, cutting edge together key aspects of the meeting. I discusses their roles in immune- technologies and novel analytical also presented my poster, having the mediated and cognitive diseases. In techniques that I hope to apply to my opportunity to converse with other addition, this session also featured the project. It has been good to receive researchers about my work and theirs. mechanistic studies to understand the feedback on our own work directly generation of CNVs and illustrated and the discussions we had have Shamik Polley techniques for the detection and opened many doors for collaborations. I have always wished to attend the quantification of common and rare Finally, we are all very grateful for annual American Society of Human CNVs. the Genetics Society Junior Scientist Genetics meeting. Attending ASHG Travel Grant and the opportunity to at San Francisco was a different In fourth day of the meeting, Jay attend our first American Society of experience. For the first time in my Shendure, Dept. of Genome Sciences, Human Genetics meeting. PhD I was attending an international Univ. of Washington described
www.genetics.org.uk . 41 variation affecting all regions of the medfly genome and examine the possible effect of resistance on the medfly life- history traits in newly colonized sites. My presentation was well received. I discussed the further steps of my project with fellow postdocs and junior researchers and got a lot of interesting ideas and suggestions.
The meeting ended with an elegant banquet at the Exhibition hall of the Town & TRAVEL GRANTS FOR JUNIOR SCIENTISTS country Hotel, where delegates could meet and enjoy a beautiful evening of abundant food, wine and music. This meeting was a very important venue for me to meet the leading authorities in the field of genomics applied to agricultural systems. I am very 42grateful to the Genetic Society for awarding me the Junior Scientist Travel Grant,
International Plant and Animal Genome Meeting 12 – 16 January, 2013, San Diego, CA, USA
Samia Elfekih . Imperial College London
he international Plant and on Small RNAs involved in Vat- in the case of the Mediterranean TAnimal Genome XXI Conference Mediated resistance against Aphis fruit fly Ceratitis capitata”. This is an important venue in the field gossypii in melon. She reported that insect is an important agricultural of genomics applied to Agriculture. there is a difference in the miRNAs pest widely distributed especially It aims at providing updates on regulation between the resistantwhich and sponsored in my the trip Mediterraneanto San Diego. basin. My the most recent developments for sensitive patterns. presentation focused mainly on the plant and animal genome projects. colonization patterns of natural On the second day of the meeting, It consists mainly of technical I attended a workshop given by populations of the medfly and their presentations, poster sessions, Professor R. Doerge (Purdue pathway of invasion worldwide exhibits and workshops. This year, University) on Statistical Issues in using ecological traits such as the meeting took place as usual at Plant Genomic Data Analysis. This insecticide resistance, as a useful the Town & Country Hotel from workshop gave me an overview indicator of evolutionary change. I January 12 to 16th, 2013. There were on quantitative trait locus (QTL) also highlighted the marker system a total of 3,170 attendees from over analysis, its evolution to expression I developed in order to assess 50 countries, 158 workshops, 1,855 QTL (eQTL), and other applications, nucleotide variation affecting all abstracts, and 1,045 posters. Around as well as current technologies regions of the medfly genome 136 international biotechnology (e.g., microarrays, next-generation and examine the possible effect of vendors were present at the Exhibit sequencing, single cell) and the resistance on the medfly life- history Hall. It was an excellent opportunity statistical issues that arise when traits in newly colonized sites. My for me to get a big exposure on the asking questions of these unique presentation was well received. I most recent advances in this field. data types. I also attended another discussed the further steps of my On the first day of the meeting, I was workshop, on genome annotation project with fellow postdocs and particularly interested in attending tools (MAKER pipeline). The junior researchers and got a lot of the arthropod genomics workshop, following day, I attended the plenary interesting ideas and suggestions. given the fact that I work on insects lecture entitled “Open science and The meeting ended with an elegant (fruit flies of economic importance). the future of genomics” given by banquet at the Exhibition hall of Dr Wayne Hunter (USDA-ARS) Prof Michael Eisen (UC Berkeley). the Town & country Hotel, where exposed the latest findings of his Prof Eisen highlighted the increasing delegates could meet and enjoy a group on Asian Citrus Psyllid importance of open access publishing beautiful evening of abundant food, Genomics and transcriptomics. He in sharing the latest trends in wine and music. This meeting was a reported that the transcriptome genomic research especially for early- very important venue for me to meet prediction across all life stages of the career scientists who would be able to the leading authorities in the field psyllid insect pest provided valuable divulgate their research to the global of genomics applied to agricultural information of specific genes to scientific community rather than just systems. I am very grateful to the each stage. These results will help a limited group of researchers in the Genetics Society for awarding me the developing better control strategies same specialty. Junior Scientist Travel Grant, which for psyllids. The following talk sponsored my trip to San Diego. was given by Dr Sampurna Sattar During the poster session, I presented (Pennsylvania State University). my research project entitled: Dr Sattar presented her research “Genomics of pesticide resistance
42 . GENETICS SOCIETY NEWS . ISSUE 69 43 HEREDITY FIELDWORK GRANT REPORT
Biodiversity loss in Central America: what is the impact of habitat fragmentation on bees? Partamona bilineata in the cloud forests of Guatemala.
Patricia Landaverde, Tomás Murray, Robert Paxton . Martin-Luther Universität
ccording to the FAO, flower bees is a beautiful chapter in nature’s such as bees seem to be particularly Avisitors such as bees, birds book, in which bees are important sensitive to habitat loss, and habitat and bats are responsible through protagonists that underpin most destruction is considered the main their activities as pollinators for terrestrial ecosystems. driver of population decline of wild 35% of the world’s crop production, This romantic story between bees bees. Theoretically, this may have worth an estimated €153 billion and plants can be encapsulated in several causes (e.g. haplodiploidy), p.a.. Furthermore, over 80% of all the quote “If the bee disappeared but a major reason may be that flowering plants are reliant upon of the face of the earth, man would central place foragers like social insect pollination for reproduction, only have four years left to live”, bees need to live in a nest (usually the majority of which is carried out even if we could quibble with either in a cavity), limiting their ability by bees. the timescale or the impact of the to disperse. An additional factor Ecologically, the value of the disappearance of all bees. The may be eusociality itself. Eusocial ecosystem service of pollination sentiment expressed in the quote Hymenoptera possess lower levels provided by bees is orders of is nevertheless a reality. The world of genetic diversity compared to magnitude beyond estimates derived is currently facing a pollinator non-eusocial species, presumably from agricultural systems. Moreover crisis, with the current pandemic because only one or few individuals bees are not only economically and among honeybees (Apis mellifera) of the colony reproduce, resulting ecologically important, they are also highlighting the vulnerability of in dramatically smaller effective part of the beauty of this world. As agricultural systems to population population sizes. many people have described, the crashes in this major commercial The combination of viscous relationship between bees and plants pollinator and placing greater populations structure with the is like a love story and the history of reliance on wild bees for pollination genetic consequences of eusociality the relationship between plants and services. Hymenopteran insects strongly suggests that habitat
As many people have described, the relationship between bees and plants is like a love story and the history of the relationship between plants and bees is a beautiful chapter in nature’s book, in which bees are important protagonists that underpin most terrestrial ecosystems.
www.genetics.org.uk . 43 HEREDITY FIELDWORK GRANT REPORT 44
fragmentation may be particularly forests, considered an extremely Once back in Halle, DNA detrimental to my focal group of rapid rate of forest loss. For my was extracted and a suite of insects, the Neotropical stingless home region, Central America, the microsatellite markers tested bees, compared to non-social bees annual average rate loss of forest on the DNA for polymorphism and other invertebrates. My target cover is reported at 1.2%, which and multiplexing. Genotyping is species is the eusocial stingless bee represents around 260,900 hectares currently underway. These data Partamona bilineata, an important of forest per year. will be used to estimate the number native pollinator of wild flora and For my Genetics Society funded and density of nests, allowing me also native cucurbit (cucumber, project, undertaken in collaboration to quantify genetic diversity and pumpkin and watermelon) crops in with my former institute, the Centre estimate the genetic differentiation Mesoamerican region. This region for Conservation Studies (CECON) between sampling localities as well has a rich, but largely unstudied, of the University Of San Carlos Of as the effective population size diversity of bee species that are Guatemala, I sampled 20 study sites within and between fragmented and thought to play an important in the Biotope del Quetzal (15.2461 intact cloud forest habitats. Given role in the region’s commercial N, 90.2223 W), a cloud forest that is the rapid degradation of natural and subsistence agricultural highly vulnerable to deforestation habitats in Mesoamerica, my hope is crop systems, but they are also and that has recently become that this work will enable me to draw considered in decline primarily due more fragmented. With the goal of firm conclusions on how agricultural to habitat destruction. Ironically, determining the effect of habitat expansion and intensification will agriculture is considered one of the loss and fragmentation on the impact native pollinator populations. principal causes of deforestation, genetic diversity and connectivity I thank the Genetics Society for yet crop yields drop through lack of populations of P. bilineata, my funding this project through a of pollinators. For these reasons, sampling was designed as paired Heredity Fieldwork Grant, and understanding the important sites: intact forest fragment and María Eunice Enriquez, Mabel services that bees provide and how cucurbit crop areas, so as to allow Vasquez, María José Dardón, Natalia they are affected by the quantity me to cover the heterogeneity of Granados, Maria de los Angeles Ariza and quality of forest habitats is the landscape. I collected at least 60 and Roberto Garnica of the Centre crucial for the development of individuals per site to identify nest of Conservation Studies, University sustainable management strategies mates and account for potentially of San Carlos De Guatemala and for conservation, agriculture and multiple sampling of individuals Jorge Merida of the El Colegio de forestry in the region. from the same nests. In total, I la Frontera Sur (ECOSUR), San To inform this process, my study collected more than the 1200 Cristobal, Mexico, for their invaluable focusses on cloud forest habitats P. bilineata individuals needed for help during my time in the field. in Guatemala, where the rate of my population genetic study and deforestation has been accelerating got to ground-truth the surrounding over the past 20 years, and currently landscape for my future GIS-based stands at 3.7% per year for primary analyses on population connectivity.
To inform this process, my study focusses on cloud forest habitats in Guatemala, where the rate of deforestation has been accelerating over the past 20 years, and currently stands at 3.7% per year for primary forests, considered an extremely rapid rate of forest loss. For my home region, Central America, the annually average rate loss of forest cover is reported at 1.2%, which represents around 260,900 hectares of forest per year.
44 . GENETICS SOCIETY NEWS . ISSUE 69 45 TRAINING GRANTS
Laser Capture Micro-Dissection and transcriptional profiling may reveal Programmed Cell Death effectors acting in Arabidopsis thaliana seed development. Zurich
Andrew James Waters . University of Edinburgh
eed development requires the ABNORMAL LEAF-SHAPE 1 and other rare cell types within Sco-ordinated growth of three (ALE1) that mediates the epidermal Arabidopsis ovules. structures; embryo, endosperm signalling role of ZOU but not the The procedure involved fixing and seed-coat. As development PCD role. The aim of my PhD is to siliques from wild-type, zou-/- and progresses the embryo grows to fill analyse the ZOU PCD role. ale-/- Arabidopsis plants, wax- the space defined by the seed-coat As ZHOUPI is a transcription embedding and then microtome- whilst consuming the nutritive factor and identifying its target sectioning them. Freshly prepared endosperm which surrounds it. genes should help identify the sections were adhered to plastic The transcription factor ZHOUPI genetic pathway mediating PCD. microscope slides. After treatment (ZOU) is specifically expressed in This can be done by comparing the to remove wax, slides were placed the Embryo Surrounding Region expression profiles of ESR cells under a microscope; individual (ESR) of endosperm; it may from wild-type, zou-/- and ale-/- seed sections within the whole act within ESR cells to induce mutant seed. This is technically silique can be visualised on a Programmed Cell Death (PCD) difficult because the ESR comprises touch-sensitive monitor. Using the allowing for invasive embryo a very small number of cells that monitor to draw a trace, a finely growth and concomitant nutrient are inaccessible for conventional calibrated laser attached to the uptake. ZOU also has a non-cell dissection as they are near the microscope cuts the trace pattern; autonomous role in mediating centre of developing seed and are sections are thus freed from the signalling to the embryo from easily ruptured. A possible solution plastic slide. Over the course of a the ESR to impart epidermal is to use the technique of Laser month in Zürich I sectioned ESR specification. Homozygous recessive Capture Micro-Dissection (LCM) tissue replicates from the three mutants of ZOU have severely to isolate specific cell types, with genotypes at two developmental disrupted endosperm PCD and very little contamination from stages of seed development and epidermal differentiation. At surrounding tissues. In March 2013 extracted the RNA. We are currently developmental maturity in wild- I visited Prof. Ueli Grossniklaus’ preparing to perform RNA-Seq to type Arabidopsis seed the embryo laboratory at The University of identify differential gene expression grows to completely consume the Zürich to perform LCM on seed between the three genotypes and endosperm whereas in zou-/- seed as his group are experts in this developmental stages with a view to much of the endosperm remains. technique. For example, they discovering direct ZOU targets with We have shown that a ZOU target, have used LCM to define the a role in endosperm PCD. the ESR expressed the protease transcriptome of the egg cell
I would like to thank members of Prof. Grossniklaus’ lab for their help and hospitality, particularly Marc Schmid for his expert guidance. I would also like to thank The Genetics Society for funding, our collaborator Dr. Gwyneth Ingram at ENS Lyon for data-set provision and my supervisor Dr. Justin Goodrich.
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Improving chromosome separation in smc5/6 mutants
Student Rachael Fellingham . Supervisor Eva Hoffmann, MRC Genome Damage and Stability Centre, University of Sussex
hromosome separation during Damage and Stability Centre, contain residual Rec8 protein along Cmeiosis I is under strict control, University of Sussex) had identified the arms of the sister chromatids preventing precocious separation of that the Structural Maintenance in anaphase. the sister chromatids and avoiding of Chromosomes (Smc) 5 and 6 We hypothesised that if the defects in separation such as mis- complex is an important cohesin residual meiotic cohesion could segregation (non-disjunction) of regulator during meiosis I. The be removed artificially, this may homologous chromosomes. Defects Smc5/6 complex contains eight ‘rescue’ the phenotype thereby in chromosome segregation during subunits, the Smc5/6 and six Non allowing separation of homologous meiosis can cause aneuploidy in Smc Element (Nse) subunits,Nse chromosomes. In order to test this, the embryos, the leading cause of 1–6. The Smc5/6 complex has a I used TEV-protease technology infertility and birth defects such as major role in the maintenance to make Saccharomyces cerevisiae Trisomy 21 (Down syndrome) of genome stability with roles in strains with a TEV protease cleavable in human. Crossing over between chromosome segregation, replication Rec8, using a PCR-based method. I homologs has been found to play and repair and its main function used a technique known as ‘delitto an important role in their accurate being in homologous recombination perfetto’ which is used for in vivo segregation during meiosis I. and correct DNA replication. The site-directed mutagenesis in yeast, Moreover, the position of the complex is part of the family of Smc to create desirable changes without crossover is important. For example, protein complexes that also includes leaving any foreign DNA in the crossovers that are too close to the cohesin and condensin which genome. I used the technique to centromeres may disrupt centromeric are all very similar in structure. produce an insertion of a TEV cohesin leading to precocious Mutations in any of these complexes cleavage site in the Rec8 gene. separation of sister chromatids at disrupt chromosome segregation meiosis I, and failure to crossover and also make cells hypersensitive I had to perform a series of may cause non-disjunction (failure of to different types of DNA damage. transformation experiments along chromosomes to separate). Mutations specifically in the Smc5/6 with verification methods such complex and Nse4 proteins results as the use of antibiotic resistance Cohesin is a protein complex that plates and PCR. The first step was holds the sister chromatids together in two phenotypes, a precocious removal of Rec8 at the centromere, to disrupt the Rec8 gene with a until the onset of anaphase I, cassette that contained the antibiotic when cohesin is degraded along and residual Rec8 left along the arms of the chromatids in anaphase. resistance genes KAN (kanamycin) chromosome arms thereby releasing and URA3. Successful transformants homologous chromosomes from each Hypothesis and project: could then be identified with the other. Indeed, disruption of cohesion Ectopic removal of meiotic appropriate antibiotic resistant has been hypothesized to cause plates. A second transformation precocious separation of homologs cohesin (Rec8) experiment then exchanged the and age-related infertility in women. The Rec8 protein is a component cassette containing the antibiotic Chromosome dynamics can be of the meiotic cohesin complex, resistance genes for the cassette studied using the system of budding which regulates sister chromatid with the TEV protease cleavage yeast which has historically been a cohesion and recombination between site. Successful transformants could good model system for identifying homologous chromosomes. In wild then be identified using 5’FOA and understanding mechanisms type cells, Rec8 is removed along plates, which negatively select for which promote crossovers in the arm regions of chromosomes URA3, and also using plates with the humans and animals. Various by the onset of anaphase I, which original antibiotic resistance such mutations in yeast will give rise to allows homologous chromosomes as KAN and HYG, to check that the chromosome separation defects. to segregate correctly. Cells with transformants had definitely had The Hoffmann lab (MRC Genome mutations in the Smc5/6 complex, these markers removed.
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After each stage, I had to verify At the end of my 10 week project I time I made small changes until the the success of the transformation. had created two strains which had spreads improved. This was a really I used two techniques: colony PCR, the TEV cleavage site successfully good learning experience, as not and genomic DNA extraction with inserted into the Rec8 gene. Further everything in the lab works first time subsequent PCR. I found that the experiments are now being done to and I have now experienced how it results from the genomic DNA insert the gene for TEV protease into takes time and practice to optimise extraction with PCR were much these new strains. When activated, a technique. During my summer more consistent than with colony TEV protease will cleave the Rec8 studentship I have learnt so much PCR as I did not lyse the cells as protein, leading to its dissociation about research, working in a lab well with colony PCR. After a from DNA. These strains will then be and being able to carry out many few attempts however, I had it used to assess the effects the artificial new procedures and techniques. I working just as well. With the use cleavage of Rec8 has on chromosome have very much enjoyed working on of antibiotic plates I needed to be separation in Smc5/6 and Nse4 my own project and this placement careful that I didn’t get false positive meiotic-null mutants. Alongside my has confirmed to me that I want results, this was because some of the project I also had the opportunity to to continue in a career in science. cassettes had homologous regions learn making meiotic chromosome I am now much more prepared for which could result in recombination, spreads. This was another project in the demands of lab-based research, either leading to replacement, or the lab which aimed to investigate I know what to expect and this is causing the deletion of large parts of the co-localization patterns of Smc5 already helping me so much in my the Rec8 gene. In the event of this, under different conditions. I am final year project. I thank everyone the strain would still have antibiotic very happy to have had the chance in the Hoffmann lab who has helped resistance, so would therefore grow to use the different microscopes and me and has given me support on the plates and appear as though found being able to look at and see throughout this project, and I would the cassette had been incorporated exactly where the proteins were like to thank Eva Hoffmann and The successfully. I overcame this issue in the cell very interesting. The Genetics Society for giving me this by using multiple sets of primers in technique of DNA spreading was great opportunity, which I am very PCR, which verified the presence of quite challenging, and to get good thankful for. each individual marker. spreads took a few attempts: each
The effect of Merlin and Moesin on ethanol sensitivity
Student Max Levin
thanol is the most abused reduced ethanol sensitivity and human oncogene Eps8. Published Edrug in society today and two previous alleles were shown to studies have so far shown Arouser reduced ethanol sensitivity is knockout a head specific transcript, to interact with Erk and Akt in a characteristic of alcohol use resulting in an increase in synapse the EGFR and PI3K pathways, disorders (AUDs). AUDs have number. This increase in synapse respectively. More recently the been diagnosed in over 76 million number and ethanol sensitivity are Moffat laboratory has unpublished people worldwide and have been suggested to be causally linked, work showing that reduction in shown to be affected by genetic as environmental social isolation gene dosage of merlin and moesin predispositions. Recent studies reduces both phenotypes. suppress Arouser dependent bristle published by the Heberlein o further our understanding it phenotypes in the fly. Additionally, laboratory at UCSF and the Moffat Tis important to determine the Yeast-2-hybrid analysis suggests an laboratory at the University of interactions of Arouser to deduce interaction between the receptor Warwick have identified the gene biochemical pathways in which it tyrosine kinase Slik, for which Merlin arouser as having a role in ethanol plays a role. The Arouser protein and Moesin are known targets, and sensitivity. Arouser mutants were contains characteristic PTB and SH3 the Arouser adaptor protein. Taken identified by genetic screens for domains and is homologous to the together these data have led to the
www.genetics.org.uk . 47 SUMMER STUDENTSHIP REPORTS 48
hypothesis that Slik signalling genotypes were also assayed for neurons do not play a role in to Merlin and Moesin is in part ethanol sensitivity in locomotor mediating an ethanol response. We mediated through Arouser. assays. Larvae from each genotype have not tested the motor neurons, My project’s goal was to knock were incubated at room temperature or the central interneurons. down the protein levels of Merlin in varying concentrations of I was able to interact with a number and Moesin in flies, using RNA ethanol, a short recovery period of postgraduate and postdoctoral interference, testing for the effect allowed and then placed on agar workers and gain further experience first on ethanol relevant behaviours to measure locomotion. Sensitivity with them. In particular the Moffat in Drosophila, and neuronal was gauged from the number of laboratory also has an interest in morphology. To do this I exploited squares entered in a grid in a set tau phosphorylation control as the widely used GAL4/UAS system time; the more squares entered a model of Alzheimer’s disease. in Drosophila to target RNA the higher the locomotion, the less Outside of my main project I interference with specific GAL4 ethanol sensitivity. Some issues was also involved in creating a driver lines. with timings and unsuccessfulness phosphomimetic tau mutant by site- of crosses did not allow me to test The effect of Merlin and Moesin directed mutagenesis, in particular the pdf::GAL4 genotypes however I T212D. DNA was purified, primers knockdown was first tested by carried out the righting reflex assay crossing lines carrying GAL4 designed. The gene mutated via PCR on arouser mutants and revertants and recloned with the mutation into responsive UAS-RNAi against the for practice. target genes with a ppk::GAL4driver. a fly transgenesis vector. This has This GAL4 line expresses in a The results of the Scholl analysis now been sent for transgenesis. defined set of sensory neurons of the 3rd instar larval ppk neurons All the above has allowed me to gain (ppk neurons) easily visible during showed a clear difference between experience in molecular biology larval phases of development. In the control and the progeny of techniques including; primer design, turn the driver line also carried the RNAi crosses. The average plasmid transformation, mini- a marker, UAS-cd8-GFP enabling of the neurons knockdown for prepping, site-directed mutagenesis, visualisation of these neurons by Moesin showed only 37% of the PCR, agarose gel electrophoresis confocal microscopy. Third instar intersections whilst the average of and gel extraction. Coupled with larvae of the F1 progeny were the neurons knockdown for Merlin genetics, immunocytochemistry, filleted and examined under a showed only 16% of the intersection confocal microscopy and some confocal microscope. Stacks were branching compared to that of the behavioural analysis. average driver neurons showed. collected of the ppk neurons from The Genes and Development the three genotypes including the Statistical analysis showed that while primary dendritic branches summer studentship offered a great ppk driver (control), comparing the experience that allowed me to gain levels of neuronal branching by were not affected in any of the genotypes, secondary branching invaluable, transferable skills in a Scholl analysis. Confocal microscopy field I wish to study in the future. I was also used to test the adult was different in Moesin knockdown (P<0.01) and in Merlin (P<0.001). particularly enjoyed learning how to brain pdf neuronal morphology process samples and prepare slides as they had previously been The results of the locomotion assay for use in the confocal microscopy. implicated in mediating ethanol show the most severe morphological By the end of the project I was sensitivity. Pdf::GAL4 drivers phenotype produced with Merlin capable of operating the confocal we again crossed to RNAi lines RNAi knockdown had no effect on microscope alone and managed to against merlin and moesin. Adult ethanol sensitivity. A number of produce images that I could use brains were dissected and analysed interpretations can be placed on this for Scholl analysis. I would like with immunocytochemistry using data. Firstly both Merlin and Moesin to thank the genetics society for anti-pdf monoclonal antibodies knockdown in the ppk neurons funding the project and Dr Moffat and Alexa568 labelled anti-mouse neurons has a morphological as well as Charlie Cameron of the secondaries. consequence, but not a behavioural Moffat lab for all the help and advice The ppk::GAL4 driver and the one in the paradigm tested. It is they have given me. ppk::GAL4/UAS-RNAi merlin likely therefore that these sensory
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An Investigation into the extent of Copy Number Variation in Human Acyl-CoA Thioesterase genes
Student Brendan Jackson . Supervisor Dr Ed Hollox, University of Leicester
cyl-CoA thioesterases (ACOTs) work suggested that the original touchdown PCR, various buffers Aare enzymes involved in the duplication to form ACOT1 and and magnesium concentrations as hydrolysis of Coenzyme A esters, ACOT2 genes was unique to well as alterations to denaturing, which is an important part of humans. A visiting Erasmus annealing and elongation several metabolic pathways such student had developed an assay for temperatures and durations. The as the citric acid cycle. They copy number variation (CNV) in ACOT1 CNV assay had already are involved in regulating the ACOT1, and the aim of my project been optimised by another student metabolism of fats and synthesis of was to determine the presence and and so I was able to use this assay hormones to balance the cellular extent of Copy Number Variation as well as the assay for ACOT2. ratios of such entities. ACOTs are (CNV) in ACOT2 by developing a Analysis of CEPH pedigrees highly expressed in many human novel PCR-based assay. showed evidence of heterozygous tissues such as adipocytes, skeletal To analyse the CNV in the ACOT deletions in ACOT2, but no null muscle, the liver and the brain genes a technique called a Paralog alleles or duplication alleles (Brocker et al., 2010). There are two Ratio Test (PRT) was used. This were evident. I found evidence distinct families of ACOT that have uses PCR primers that recognise of deletions in ACOT1 CEPH been discovered, type I enzymes 2 distinct sections of the genome pedigrees and in addition found and type II enzymes. Type I which share the same sequence. examples of null alleles in the enzymes are only found in animals Firstly, an area within the gene unrelated control DNA samples. and include the enzymes ACOT1 that is thought to exhibit CNV (the and ACOT2 on which this project Now that the assays have been test) and secondly, a paralog of optimised it will be possible to focused. ACOT2 is a mitochondrial this first sequence that is located enzyme which is encoded by further study the evolutionary on another chromosome (the origin of the ACOT genes. If the nuclear genome, it has been reference). The two sequences found to play an important part primate DNA is analysed it will must differ in length significantly be possible to look at when the in steroidogenesis and is involved enough that they produce clearly in the release of arachidonic CNV originated and which ACOT distinct bands following gel gene was the original. Further acid, a fatty acid that is highly electrophoresis. Using Image J concentrated in the brain. ACOT1 analysis of human pedigrees will software the bands can be analysed better ascertain the extent of is very similar to ACOT2 and to deduce how many copies of differs by just 5 amino acids, but the variation and may indicate the gene of interest are present. whether it has any significance. has lost its mitochondrial targeting Image J turns the bands into peaks sequence and it is cytosolic. This whose amplitude corresponds to Thanks to the Genetics Society suggests that there was a fairly the quantity of DNA in the band. for funding this studentship and recent gene duplication event The reference sequence is not allowing me to do this project, which produced the two very in a CNV region so will always it has been a very valuable similar genes. consist of 2 copies of the gene. experience and I have benefited Copy number variation at the The test sequence can be the greatly from it. Thanks must also ACOT1/2 genes has been identified same size (two copies), smaller (a go to Dr Ed Hollox and everyone in as showing copy number variation deletion) or larger (a duplication). Dr. Hollox’s lab for being so helpful by sequence read depth mapping Design of the PCR-based assay and friendly. of whole genomes (Sudmant required extensive optimisation et al., 2010). Furthermore, that including gradient PCR,
www.genetics.org.uk . 49 GRANTS SCHEMES 50
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. They should be submitted on the GS Funding Application Form available online at http://www.genetics.org.uk/Funding/OneoffMeetingSponsorship.aspx 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.
www.genetics.org.uk . 51 GRANT SCHEMES 52
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 using the meeting registration form, before the final deadline of the meeting.
For meetings of our Sectional Interest Groups (eg, 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.
Other conditions: applicants must have been members of the Genetics Society for at least one year. 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: applications should be submitted on the GS Funding Application Form by email in time for one of the quarterly deadlines (1st day of February, May, August and November), to [email protected] using message subject “JSTG” and your surname. Please ask your supervisor to send a very brief email in support.
Other conditions: applicants must have been members of the Genetics Society for at least one year. 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.
52 . GENETICS SOCIETY NEWS . ISSUE 69 GRANT SCHEMES 53
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: there are two closing dates of 1st March and 1st September each year. Applications should be made on the GS Funding Application Form, available online at http://www.genetics.org.uk/Funding/ TheGeneticsSocietyTrainingGrant.aspx. Applications from PhD students should be accompanied by a very short supporting e-mail from the supervisor.
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 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: there are two closing dates of 1st March and 1st September each year. Applications should be made on the GS Funding Application Form, available online at http://www.genetics.org.uk/Funding/HeredityFieldworkGrant. aspx. Applications from PhD students should be accompanied by a very short supporting e-mail from the supervisor.
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: Applicants must have been members of the Genetics Society for at least one year. 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 . 53 GRANT SCHEMES 54
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. Applications should be made on the GS Funding Application Form, available online at http://www.genetics.org.uk/Funding/ GenesandDevelopmentsummerstudentships.aspx. 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: applicants must have been a member of the Genetics Society for at least 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.
54 . GENETICS SOCIETY NEWS . ISSUE 69 Personal Subscription Order Form
Please return this form to The Genetics Society, c/o Portland Customer Services, Commerce Way, Colchester CO2 8HP
The new personal subscription rate for Genes and Development for 2012 is £128, inclusive of airmail delivery. The subscription runs on a yearly basis from January 1st. The full subscription will be charged and back issues supplied when applications are made after January of each year.
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Payment
Payment can be made by cheque (payable to “Genetics Society”), credit card (add 3.6%) or direct debit. If you already pay by direct debit you do not need to complete a new mandate. If you wish to set up a direct debit for your Genes and Development subscription, a mandate will be sent to you on receipt of this form.
1. I enclose a cheque or Sterling Eurocheque for £128.
2. I instruct you to use my existing direct debit agreement to debit my account in January each year for my subscription to Genes and Development.
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Signed ...... GENERAL INFORMATION 56
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 to these meetings and prizes for the Development, which is jointly best contributions, plus costs for the owned with Cold Spring Harbor The Genetics Society was founded three winners to attend the following Laboratories and which is concerned in 1919 and is one of the world’s Spring Meeting and national finals. with molecular and developmental first societies devoted to the study aspects of genetics. of the mechanisms of inheritance. Medals and Lectures Famous founder members included Full and student members are The Mendel Medal, named in honour entitled to reduced subscriptions William Bateson, JBS Haldane of the founder of modern genetics, and AW Sutton. Membership is both to these journals and also to is usually given on alternative years Genetics Research, published by open to anyone with an interest in at a Genetics Society Meeting by genetical research or teaching, or Cambridge University Press, to an internationally distinguished Trends in Genetics, a monthly journal in the practical breeding of plants geneticist. and animals. published by Elsevier with review The Society also awards the Genetics articles of topical interest aimed at Meetings Society Medal, Balfour Lecture and the general reader, Nature Genetics, The main annual event of the JBS Haldane lecture on an annual published by Nature Publishing Society is the Spring Meeting. This basis. Winners of the Genetics company (MacMillan Magazines has at least one major symposium Society Medal and Balfour lectures Limited), Current Biology journals, theme with invited speakers, and a present their lecture at a Genetics BioEssays and Chromosome Research. number of contributed papers and/ Society Meeting. A new award, the A newsletter is sent out twice a year or poster sessions. Mary Lyon Medal, will be awarded to inform members about meetings, annually from 2015. One day mini-symposia are held symposia and other items of interest. during the year in different regions International links Specialist interests so that members from different The Society has many overseas Six specialist interest areas are catchment areas and specialist members and maintains links with groups within the society can be covered by elected Committee genetics societies in other countries Members: Gene Structure, Function informed about subjects of topical, through the International Genetics local and specialist interest. Like and Regulation; Genomics; Cell & Federation, the Federation of Developmental Genetics; Applied the spring symposia these include European Genetics Societies and papers both from local members and Quantitative Genetics; through the International Union of Evolutionary, Ecological and and from invited speakers. One of Microbiological Societies. these meetings always takes place Population Genetics; Corporate in London in November. Publications Genetics and Biotechnology. The Committee Members are responsible Young geneticists’ The Society publishes two for ensuring that the various local major international scientific meetings and national meetings cover all journals: Heredity, concerned with organisms within the broad spectrum Currently there are three meetings cytogenetics, with ecological, of our members’ interests. devoted to talks and posters by evolutionary and bio-metrical students and junior postdocs. genetics and also with plant and Promega UK is sponsoring travel animal breeding; and Genes and
56 . GENETICS SOCIETY NEWS . ISSUE 69 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, Portland Customer Services, Commerce Way, Colchester CO2 8HP, UK. 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:
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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, Portland Customer Services, Commerce Way, Colchester CO2 8HP, UK 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)
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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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