論文標題：Identification of genes required for eye development by high-throughput screening of mouse knockouts
期刊：Communications Biology
作者：Bret A. Moore, Brian C. Leonard, Lionel Sebbag, Sydney G. Edwards, Ann Cooper, Denise M. Imai, Ewan Straiton, Luis Santos, Christopher Reilly, Stephen M. Griffey, Lynette Bower, David Clary, Jeremy Mason, Michel J. Roux, Hamid Meziane, Yann Herault, International Mouse Phenotyping Consortium, Colin McKerlie, Ann M. Flenniken, Lauryl M. J. Nutter, Zorana Berberovic, Celeste Owen, Susan Newbigging, Hibret Adissu, Mohammed Eskandarian, Chih-Wei Hsu, Sowmya Kalaga, Uchechukwu Udensi, Chinwe Asomugha, Ritu Bohat, Juan J. Gallegos, John R. Seavitt, Jason D. Heaney, Arthur L. Beaudet, Mary E. Dickinson, Monica J. Justice, Vivek Philip, Vivek Kumar, Karen L. Svenson, Robert E. Braun, Sara Wells, Heather Cater, Michelle Stewart, Sharon Clementson-Mobbs, Russell Joynson, Xiang Gao, Tomohiro Suzuki, Shigeharu Wakana, Damian Smedley, J. K Seong, Glauco Tocchini-Valentini, Mark Moore, Colin Fletcher, Natasha Karp, Ramiro Ramirez-Solis, Jacqueline K. White, Martin Hrabe de Angelis, Wolfgang Wurst, Sara M. Thomasy, Paul Flicek, Helen Parkinson, Steve D. M. Brown, Terrence F. Meehan, Patsy M. Nishina, Stephen A. Murray, Mark P. Krebs, Ann-Marie Mallon, K. C. Kent Lloyd, Christopher J. Murphy, Ala Moshiri
發表時間：2018/12/21
數字識別碼： 10.1038/s42003-018-0226-0
原文連結：http://t.cn/EMgABSb
雖然下一代基因測序技術取得了一定的進展，但是由於人類正向遺傳學的局限性和其費用的高昂，確定眼部疾病的遺傳基礎仍然是一項重大的挑戰。目前，針對所有的器官系統，只有不到4000個的基因具有可用的表型信息。
近期，在發表於Communications Biology期刊的Identification of genes required for eye development by high-throughput screening of mouse knockouts一文中，來自美國加州大學戴維斯分校的Christopher J. Murphy、Ala Moshiri及同事報導了來自國際小鼠表型分析聯盟的眼科相關發現。該聯盟進行了一項大規模的功能性遺傳篩查研究，目的是針對每個小鼠基因產生一個無效突變體，並分析其表型。在評估的4364個基因中，347個被鑑定為可影響眼部的表型，其中75%的基因在眼病理學領域中是全新的發現。這一發現極大地擴充了已知能夠引起眼部疾病的基因數量，而且很可能的是，其中的許多基因以後將被證明在人類的眼部發育和疾病中發揮重要作用。
圖1：Fam20a，Col6a2和Nadsyn1被敲除小鼠的角膜異常
摘要：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.
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期刊介紹：Communications Biology(https://www.nature.com/commsbio/) is an open access journal from Nature Research publishing high-quality research, reviews and commentary in all areas of the biological sciences. Research papers published by the journal represent significant advances bringing new biological insight to a specialized area of research.
（來源：科學網）
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