1. Identification of genes required for eye development by high-throughput screening of mouse knockouts
- Author
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Bret A. Moore1, Brian C. Leonard2, Lionel Sebbag1, Sydney G. Edwards1, Ann Cooper1, Denise M. Imai3, 4, Luis Santos4, Christopher Reilly3, Stephen M. Griffey3, Lynette Bower5, David Clary5, 6, Michel J. Roux 7, 8, 9, Hamid Meziane7, Ewan Straiton Jeremy Mason Yann Herault Ann M. Flenniken12, Lauryl M.J. Nutter12, Zorana Berberovic12, Celeste Owen12, Susan Newbigging12, Hibret Adissu12, Mohammed Eskandarian12, Chih-Wei Hsu15, Sowmya Kalaga15, Uchechukwu Udensi15, Chinwe Asomugha15, Ritu Bohat16, Juan J. Gallegos16, John R. Seavitt16, Jason D. Heaney16, Arthur L. Beaudet16, Mary E. Dickinson15, Monica J. Justice12, Vivek Philip17, Vivek Kumar 17, Karen L. Svenson17, Robert E. Braun17, Sara Wells4, Heather Cater4, Michelle Stewart4, Sharon Clementson-Mobbs4, Russell Joynson4, Xiang Gao18, Tomohiro Suzuki19, Shigeharu Wakana 19, Damian Smedley20, J. K Seong21, Glauco Tocchini-Valentini22, Mark Moore23, Colin Fletcher24, Natasha Karp25, Ramiro Ramirez-Solis25, Jacqueline K. White17, Martin Hrabe de Angelis 26, Wolfgang Wurst26, Sara M. Thomasy2, Paul Flicek 6, Helen Parkinson6, Steve D.M. Brown4, Terrence F. Meehan6, Patsy M. Nishina17, Stephen A. Murray17, Mark P. Krebs17, Ann-Marie Mallon4, K.C.Kent Lloyd 5, Christopher J. Murphy2, Ala Moshiri27, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Medical Research Counc, Department of Surgery, Second Hospital of HeBei Medical University, European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, Cell Biology and Neurobiology Institute, Consiglio Nazionale delle Ricerche [Roma] (CNR), The Wellcome Trust Sanger Institute [Cambridge], GSF research center, Institute of Experimental Genetis, Biochemistry, and European Bioinformatics Institute
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0301 basic medicine ,genetic structures ,Ocular Pathology ,[SDV]Life Sciences [q-bio] ,Medicine (miscellaneous) ,Computational biology ,Disease ,Biology ,Eye ,General Biochemistry, Genetics and Molecular Biology ,DNA sequencing ,Article ,03 medical and health sciences ,0302 clinical medicine ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,lcsh:QH301-705.5 ,Gene ,development ,Eye Disease and Disorders of Vision ,Gene knockout ,ComputingMilieux_MISCELLANEOUS ,mouse mutants ,Human Genome ,Phenotype ,eye ,eye diseases ,Forward genetics ,030104 developmental biology ,lcsh:Biology (General) ,sense organs ,International Mouse Phenotyping Consortium ,General Agricultural and Biological Sciences ,030217 neurology & neurosurgery ,Genetic screen ,Biotechnology - Abstract
Despite advances in next generation sequencing technologies, determining the genetic basis of ocular disease remains a major challenge due to the limited access and prohibitive cost of human forward genetics. Thus, less than 4,000 genes currently have available phenotype information for any organ system. Here we report the ophthalmic findings from the International Mouse Phenotyping Consortium, a large-scale functional genetic screen with the goal of generating and phenotyping a null mutant for every mouse gene. Of 4364 genes evaluated, 347 were identified to influence ocular phenotypes, 75% of which are entirely novel in ocular pathology. This discovery greatly increases the current number of genes known to contribute to ophthalmic disease, and it is likely that many of the genes will subsequently prove to be important in human ocular development and disease., Bret Moore et al. from the International Mouse Phenotyping Consortium report the identification of 347 mouse genes that influence ocular phenotypes when knocked out. 75% of the identified genes have not previously been associated with any ocular pathology.
- Published
- 2018
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