论文标题：Identification of genes required for eye development by high-throughput screening of mouse knockouts

期刊：

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

发表时间：2018/12/21

数字识别码： 10.1038/s42003-018-0226-0

原文链接：

虽然下一代基因测序技术取得了一定的进展，但是由于人类正向遗传学的局限性和其费用的高昂，确定眼部疾病的遗传基础仍然是一项重大的挑战。目前，针对所有的器官系统，只有不到4000个的基因具有可用的表型信息。

近期，在发表于Communications Biology期刊的Identification of genes required for eye development by high-throughput screening of mouse knockouts一文中，来自美国加州大学戴维斯分校的Christopher J. Murphy、Ala Moshiri及同事报道了来自国际小鼠表型分析联盟的眼科相关发现。该联盟进行了一项大规模的功能性遗传筛查研究，目的是针对每个小鼠基因产生一个无效突变体，并分析其表型。在评估的4364个基因中，347个被鉴定为可影响眼部的表型，其中75%的基因在眼病理学领域中是全新的发现。这一发现极大地扩充了已知能够引起眼部疾病的基因数量，而且很可能的是，其中的许多基因以后将被证明在人类的眼部发育和疾病中发挥重要作用。

图1：Fam20a，Col6a2和Nadsyn1被敲除小鼠的角膜异常

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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期刊介绍：() 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.

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