Genome De La Souris 7-10 Octobre 1996
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Deficiency of the Zinc Finger Protein ZFP106 Causes Motor and Sensory
Human Molecular Genetics, 2016, Vol. 25, No. 2 291–307 doi: 10.1093/hmg/ddv471 Advance Access Publication Date: 24 November 2015 Original Article ORIGINAL ARTICLE Deficiency of the zinc finger protein ZFP106 causes Downloaded from https://academic.oup.com/hmg/article/25/2/291/2384594 by guest on 23 September 2021 motor and sensory neurodegeneration Peter I. Joyce1, Pietro Fratta2,†, Allison S. Landman1,†, Philip Mcgoldrick2,†, Henning Wackerhage3, Michael Groves2, Bharani Shiva Busam3, Jorge Galino4, Silvia Corrochano1, Olga A. Beskina2, Christopher Esapa1, Edward Ryder4, Sarah Carter1, Michelle Stewart1, Gemma Codner1, Helen Hilton1, Lydia Teboul1, Jennifer Tucker1, Arimantas Lionikas3, Jeanne Estabel5, Ramiro Ramirez-Solis5, Jacqueline K. White5, Sebastian Brandner2, Vincent Plagnol6, David L. H. Bennet4,AndreyY.Abramov2,LindaGreensmith2,*, Elizabeth M. C. Fisher2,* and Abraham Acevedo-Arozena1,* 1MRC Mammalian Genetics Unit, Harwell, Oxfordshire OX11 0RD, UK, 2UCL Institute of Neurology and MRC Centre for Neuromuscular Disease, Queen Square, London WC1N 3BG, UK, 3Health Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UK, 4Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK, 5Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK and 6UCL Genetics Institute, London WC1E 6BT, UK *To whom correspondence should be addressed. Email: [email protected] (A.A.)/e.fi[email protected] (E.M.C.F.)/[email protected] (L.G.) Abstract Zinc finger motifs are distributed amongst many eukaryotic protein families, directing nucleic acid–protein and protein–protein interactions. Zinc finger protein 106 (ZFP106) has previously been associated with roles in immune response, muscle differentiation, testes development and DNA damage, although little is known about its specific function. -
Genetic Determinants Underlying Rare Diseases Identified Using Next-Generation Sequencing Technologies
Western University Scholarship@Western Electronic Thesis and Dissertation Repository 8-2-2018 1:30 PM Genetic determinants underlying rare diseases identified using next-generation sequencing technologies Rosettia Ho The University of Western Ontario Supervisor Hegele, Robert A. The University of Western Ontario Graduate Program in Biochemistry A thesis submitted in partial fulfillment of the equirr ements for the degree in Master of Science © Rosettia Ho 2018 Follow this and additional works at: https://ir.lib.uwo.ca/etd Part of the Medical Genetics Commons Recommended Citation Ho, Rosettia, "Genetic determinants underlying rare diseases identified using next-generation sequencing technologies" (2018). Electronic Thesis and Dissertation Repository. 5497. https://ir.lib.uwo.ca/etd/5497 This Dissertation/Thesis is brought to you for free and open access by Scholarship@Western. It has been accepted for inclusion in Electronic Thesis and Dissertation Repository by an authorized administrator of Scholarship@Western. For more information, please contact [email protected]. Abstract Rare disorders affect less than one in 2000 individuals, placing a huge burden on individuals, families and the health care system. Gene discovery is the starting point in understanding the molecular mechanisms underlying these diseases. The advent of next- generation sequencing has accelerated discovery of disease-causing genetic variants and is showing numerous benefits for research and medicine. I describe the application of next-generation sequencing, namely LipidSeq™ ‒ a targeted resequencing panel for the identification of dyslipidemia-associated variants ‒ and whole-exome sequencing, to identify genetic determinants of several rare diseases. Utilization of next-generation sequencing plus associated bioinformatics led to the discovery of disease-associated variants for 71 patients with lipodystrophy, two with early-onset obesity, and families with brachydactyly, cerebral atrophy, microcephaly-ichthyosis, and widow’s peak syndrome. -
Abstracts of Papers Presented at the Tenth Mammalian Genetics And
Genet. Res., Camb. (2000), 76, pp. 199–214. Printed in the United Kingdom # 2000 Cambridge University Press 199 Abstracts of papers presented at the tenth Mammalian Genetics and Deelopment Workshop (Incorporating the Promega Young Geneticists’ Meeting) held at the Institute of Child Health, Uniersity College London on 17–19Noember 1999 " # Edited by: ANDREW J. COPP AND ELIZABETH M. C. FISHER 1Institute of Child Health, Uniersity College London, 30 Guilford Street, London WC1N 1EH, UK # Neurogenetics Unit, Imperial College School of Medicine, St Mary’s Hospital, Norfolk Place, London W2 1PG, UK Sponsored by: The Genetical Society, Promega (UK) Ltd and B&K Universal Group Ltd Evidence for imprinting in type 2 diabetes: detection of Identification of a locus for primary ciliary dyskinesia parent-of-origin effects at the insulin gene on chromosome 19 " " " STEWART HUXTABLE, PHILIP SAKER, LEMA S. L. SPIDEN , M. MEEKS , A. J. WALNE ,H. # # HADDAD, ANDREW HATTERSLEY, MARK BLAU , H. MUSSAFFI-GEORGY ,H. $ % % WALKER and MARK McCARTHY SIMPSON , M. EL FEHAID , M. CHEEBAB ,M. % % Section of Endocrinology, Imperial College School of AL-DABBAGH , H. D. HAMMUM ,R.M. " " Medicine, St Mary’s Hospital, London, UK GARDINER , E. M. K. CHUNG and H. M. " MITCHISON " Variation at the insulin gene (INS) VNTR is impli- Department of Paediatrics, Royal Free and Uniersity cated in type 1 diabetes, polycystic ovarian syndrome College Medical School, Uniersity College London, # and birthweight. Case-control studies inconsistently UK; Schneider Children’s Medical Center of Israel, $ show class III VNTR association with type 2 diabetes, Petech Tika, Israel; School of Medical Sciences, but may result from population stratification. -
Avian Binocularity and Adaptation to Nocturnal Environments: Genomic Insights Froma Highly Derived Visual Phenotype Rui Borges Universidade Do Porto - Portugal
Nova Southeastern University NSUWorks Biology Faculty Articles Department of Biological Sciences 8-22-2019 Avian Binocularity and Adaptation to Nocturnal Environments: Genomic Insights froma Highly Derived Visual Phenotype Rui Borges Universidade do Porto - Portugal Joao Fonseca Universidade do Porto - Portugal Cidalia Gomes Universidade do Porto - Portugal Warren E. Johnson Smithsonian Institution Stephen James O'Brien St. Petersburg State University - Russia; Nova Southeastern University, [email protected] See next page for additional authors Follow this and additional works at: https://nsuworks.nova.edu/cnso_bio_facarticles Part of the Biology Commons NSUWorks Citation Borges, Rui; Joao Fonseca; Cidalia Gomes; Warren E. Johnson; Stephen James O'Brien; Guojie Zhang; M. Thomas P. Gilbert; Erich D. Jarvis; and Agostinho Antunes. 2019. "Avian Binocularity and Adaptation to Nocturnal Environments: Genomic Insights froma Highly Derived Visual Phenotype." Genome Biology and Evolution 11, (8): 2244-2255. doi:10.1093/gbe/evz111. This Article is brought to you for free and open access by the Department of Biological Sciences at NSUWorks. It has been accepted for inclusion in Biology Faculty Articles by an authorized administrator of NSUWorks. For more information, please contact [email protected]. Authors Rui Borges, Joao Fonseca, Cidalia Gomes, Warren E. Johnson, Stephen James O'Brien, Guojie Zhang, M. Thomas P. Gilbert, Erich D. Jarvis, and Agostinho Antunes This article is available at NSUWorks: https://nsuworks.nova.edu/cnso_bio_facarticles/982 GBE Avian Binocularity and Adaptation to Nocturnal Environments: Genomic Insights from a Highly Derived Visual Downloaded from https://academic.oup.com/gbe/article-abstract/11/8/2244/5544263 by Nova Southeastern University/HPD Library user on 16 September 2019 Phenotype Rui Borges1,2,Joao~ Fonseca1,Cidalia Gomes1, Warren E. -
Progressive Cone and Cone-Rod Dystrophies
Br J Ophthalmol: first published as 10.1136/bjophthalmol-2018-313278 on 24 January 2019. Downloaded from Review Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy Jasdeep S Gill,1 Michalis Georgiou,1,2 Angelos Kalitzeos,1,2 Anthony T Moore,1,3 Michel Michaelides1,2 ► Additional material is ABSTRact proteins involved in photoreceptor structure, or the published online only. To view Progressive cone and cone-rod dystrophies are a clinically phototransduction cascade. please visit the journal online (http:// dx. doi. org/ 10. 1136/ and genetically heterogeneous group of inherited bjophthalmol- 2018- 313278). retinal diseases characterised by cone photoreceptor PHOTORECEPTION AND THE degeneration, which may be followed by subsequent 1 PHOTOTRANSDUCTION CASCADE UCL Institute of rod photoreceptor loss. These disorders typically present Rod photoreceptors contain rhodopsin phot- Ophthalmology, University with progressive loss of central vision, colour vision College London, London, UK opigment, whereas cone photoreceptors contain 2Moorfields Eye Hospital NHS disturbance and photophobia. Considerable progress one of three types of opsin: S-cone, M-cone or Foundation Trust, London, UK has been made in elucidating the molecular genetics L-cone opsin. Disease-causing sequence variants 3 Ophthalmology Department, and genotype–phenotype correlations associated with in the genes encoding the latter two cone opsins University of California San these dystrophies, with mutations in at least 30 genes -
Sepnetplacements201314213.Pdf
SEPnet Summer Placement Opportunities 2013 1 Dear SEPnet Student I am delighted to be able to present the opportunities available for SEPnet funded work placements in 2013. There are 35 industry placements and 12 research placements in total. Please read through the list of projects carefully – they offer a great opportunity for you to gain valuable work experience this summer. Details about the scheme are set out in the FAQs section below. Please make a note of the deadline dates, in particular, the application deadline of FRIDAY 29 MARCH. If you have any questions you can contact me on my email address below. I wish you all the best with your applications! Veronica Veronica Benson Keep up-to-date with SEPnet Director of Employer Liaison www.facebook.com/SEPnet South-East Physics Network Twitter @SEPhysics [email protected] www.sepnet.ac.uk FAQs How much will I get paid? Successful candidates will receive a bursary of £1,360 which is for eight weeks work in the summer holidays. How does the scheme work? 1. You need to register your details before you start applying. Go to the following page on our website and click on the link called Student Registration Form at: http://www.sepnet.ac.uk/employer_services/summer_internships/information_students.html NB: You will not be able to take up a placement if you have not registered here first. 2. Read the project descriptions in this booklet carefully. We recommend you apply for more than one placement and you may wish to apply for several but remember to target your applications to the projects that really interest you and check the location of the placement to make sure you can get there! 3. -
Molecular Characterization of the Interaction Between Peripherin-2 and Opsins in Rod and Cone Photoreceptors
Dissertation zur Erlangung des Doktorgrades der Fakultät für Chemie und Pharmazie der Ludwig-Maximilians-Universität München Molecular characterization of the interaction between peripherin-2 and opsins in rod and cone photoreceptors Ong Nam Phuong Nguyen aus München 2016 Erklärung Die Dissertation wurde im Sinne von § 7 der Promotionsordnung vom 28. November 2011 von Herrn Prof. Dr. Martin Biel betreut. Eidesstattliche Versicherung Die Dissertation wurde eigenständig und ohne unerlaubte Hilfsmittel erarbeitet. München, den ……………………. ………………………………………….. (Ong Nam Phuong Nguyen) Dissertation eingereicht am: 29.01.2016 1. Gutachter: Prof. Dr. Martin Biel 2. Gutachter: PD Dr. Stylianos Michalakis Mündliche Prüfung am: 24.02.2016 Table of contents Table of contents Table of contents .................................................................................................................. I 1 Introduction ............................................................................................................ 1 1.1 Anatomy of the retina ............................................................................................... 1 1.2 Anatomy of photoreceptors ...................................................................................... 2 1.3 Signaling transduction in photoreceptors .................................................................. 3 1.4 Topology and function of retinal opsins .................................................................... 5 1.5 Peripherin-2 ............................................................................................................. -
Nitrosourea Mutagenesis Causes Retinal Degeneration in Mice
Molecular Vision 2010; 16:378-391 <http://www.molvis.org/molvis/v16/a44> © 2010 Molecular Vision Received 18 May 2009 | Accepted 1 March 2010 | Published 10 March 2010 A monogenic dominant mutation in Rom1 generated by N-ethyl-N- nitrosourea mutagenesis causes retinal degeneration in mice Hajime Sato,1 Tomohiro Suzuki,2 Kyoko Ikeda,2 Hiroshi Masuya,3 Hideki Sezutsu,4 Hideki Kaneda,2 Kimio Kobayashi,2 Ikuo Miura,2 Yasuyuki Kurihara,5 Shunji Yokokura,1 Kohji Nishida,1 Makoto Tamai,1 Yoichi Gondo,6 Tetsuo Noda,7 Shigeharu Wakana2 (The first two authors contributed equally to this work) 1Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan; 2Technology and Development Team for Mouse Phenotype Analysis, RIKEN BioResource Center, Ibaraki, Japan; 3Technology and Development Unit for Knowledge Base of Mouse Phenotype, RIKEN BioResource Center, Ibaraki, Japan; 4Transgenic Silkworm Research Center, National Institute of Agrobiological Sciences, Ibaraki, Japan; 5Department of Environment and National Science, Graduate School of Environment and Information Science, Yokohama National University, Yokohama, Japan; 6Mutagenesis and Genomics Team, RIKEN BioResource Center, Ibaraki, Japan; 7Team for Advanced Development and Evaluation of Human Disease Models, RIKEN BioResource Center, Ibaraki, Japan Purpose: To characterize an N-ethyl-N-nitrosourea-induced dominant mouse mutant, M-1156, that exhibits progressive retinal degeneration and to investigate the pathogenesis of the retinal phenotype in the mutant. Methods: A positional candidate gene approach was used to identify the causative gene in the M-1156 mutant. Funduscopic examination, light microscopy, transmission electron microscopy, and electroretinography were performed to analyze the M-1156 phenotype. Real-time quantitative PCR, immunohistochemistry, and western blotting were also performed. -
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa
Downloaded from http://perspectivesinmedicine.cshlp.org/ on September 24, 2021 - Published by Cold Spring Harbor Laboratory Press Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa Stephen P. Daiger, Sara J. Bowne, and Lori S. Sullivan Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, Texas 77030 Correspondence: [email protected] Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%–30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP,more than 1000 mutations have been reported in these genes, clinical findings are highly variable, and there is considerable overlap with other types of inherited disease. Currently, it is possible to detect disease-causing mutations in 50%–75% of adRP families in select populations. Genetic diagnosis of adRP has advantages over other forms of RP because segregation of disease in families is a useful tool for identifying and confirming potentially pathogenic variants, but there are disadvantages too. In addition to identifying the cause of disease in the remaining 25% of adRP families, a central challenge is reconciling clinical diagnosis, family history, and molecular findings in patients and families. etinitis pigmentosa (RP) is an inherited dys- grams (ERGs), changes in structure imaged by Rtrophic or degenerative disease of the retina optical coherence tomography (OCT), and sub- with a prevalence of roughly one in 4000 (Haim jective changes in visual function (Fishman et al. 2002; Daiger et al. 2007). -
The Social Structure, Ecology and Pathogens of Bats in the UK
The Social Structure, Ecology and Pathogens of Bats in the UK Submitted by Thomas Adam August to the University of Exeter as a thesis for the degree of Doctor of Philosophy in Biological Sciences In September 2012 This thesis is available for library use on the understanding that it is copyright material and that no quotation from the thesis may be published without proper acknowledgement. I certify that all material in this thesis which is not my own work has been identified and that no material has previously been submitted and approved for the award of a degree by this or any other university. Signature: ………………………………………………………….. 1 2 Dedicated to the memory of Charles William Stewart Hartley 3 4 Abstract This thesis examines the ecology, parasites and pathogens of three insectivorous bat species in Wytham Woods, Oxfordshire; Myotis nattereri (Natterer’s bat), M. daubentonii (Daubenton’s bat) and Plecotus auritus (Brown long-eared bat). The population structure was assessed by monitoring associations between ringed individuals, utilising recent advances in social network analysis. Populations of both M. daubentonii and M. nattereri were found to subdivide into tight-knit social groups roosting within small areas of a continuous woodland (average minimum roost home range of 0.23km2 and 0.17km2 respectively). If this population structure is a general attribute of these species it may make them more sensitive to small scale habitat change than previously thought and has implications for how diseases may spread through the population. M. daubentonii had a strong preference for roosts close to water, away from woodland edge and in areas with an easterly aspect. -
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Doctor of Philosophy Charles Nyaigoti Agoti For a thesis entitled Genetic Diversity of Respiratory Syncytial Virus Strains in Relation to Infection and Re-Infection Sponsoring Establishment KEMRI - Wellcome Trust Research Programme, Kenya Pierre Akiki For a thesis entitled Engineering Adaptive User Interfaces for Enterprise Applications Amelina Andrea Albornoz For a thesis entitled The Role of TIA-1 as a Cellular Restriction Factor for Tick-Borne Encephalitis Virus Infection Sponsoring Establishment International Centre for Genetic Engineering and Biotechnology Margaret Elizabeth Andrews For a thesis entitled Lateritic Palaeosols of N E Africa: A Remote Sensing Study Vassileios Angelis For a thesis entitled Testing and Analysis of a Computational Model of Human Rhythm Perception Helen Arfvidsson For a thesis entitled On Burning Cars, Concrete and Citizenship Philip Ashton For a thesis entitled A Genomic and Proteomic Approach to Investigate the Clostridium botulinum Toxin Complex Sponsoring Establishment Professional Development Foundation Sophie Bailes For a thesis entitled Retention Mechanism for the Reversed Phase and Hydrophilic Interaction Liquid Chromatography Sophie Philippa Bankes For a thesis entitled James Lackington (1746-1815) and Reading in the Late Eighteenth Century Imran Bashir For a thesis entitled Acoustical Exploitation of Rough, Mixed Impedance and Porous Surface Outdoors Swaraj Basu For a thesis entitled Conservation and Synteny of Long Non-Coding RNAs in Vertebrate Genomes and their Identification in Novel Transcriptomes -
Mouse Models of Human Disease. Part II: Recent Progress and Future Directions
Downloaded from genesdev.cshlp.org on September 30, 2021 - Published by Cold Spring Harbor Laboratory Press Mouse models of human disease. Part II: Recent progress and future directions Mary A. Bedell, 1 David A. Largaespada, 2 Nancy A. Jenkins, and Neal G. Copeland 3 Mammalian Genetics Laboratory, ABL-Basic Research Program, NCI-Frederick Cancer Research and Development Center, Frederick, Maryland 21702-1201 USA The development of new methods for manipulating the the recent progress in this area. Throughout the text and mouse genome, including transgenic and embryonic tables, we have cited only the most recent papers and stem (ES) cell knockout technology, combined with refer to reviews whenever possible. Interested readers are greatly improved genetic and physical maps for mouse encouraged to read the primary papers on each model has revolutionized our ability to generate new mouse and associated disease. models of human disease. In Part I of this review (Bedell et al., this issue), we described in detail the various tech- Disorders of neural crest derivatives niques and genetic resources that have facilitated mouse model development. In Part II of this review we highlight Cells from the neural crest differentiate into many dif- some of the recent progress that has been made in mouse ferent cell types including melanocytes of the skin and model development and discuss areas where these inner ear, neuronal and glial components of the periph- mouse models are likely to contribute in the future. We eral nervous system, neuroendocrine cells of the adrenal have focused in part II only on those models where the medulla and thyroid, and cartilaginous and membranous homologous gene is mutated in both the human and bones of the skull.