Identification of genes required for eye development by high-throughput screening of mouse knockouts
Identification of genes required for eye development by high-throughput screening of mouse knockouts
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DOI：
10.1038/s42003-018-0226-0
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发表时间：
2018-01-01
影响因子：
5.9
通讯作者：
Tocchini-Valentini, Giuseppe D.
中科院分区：
文献类型：
--
作者：
Moore, Bret A.;Leonard, Brian C.;Tocchini-Valentini, Giuseppe D.
尽管下一代测序技术取得了进展，但由于人类正向遗传学的有限获取和高昂成本，确定眼部疾病的遗传基础仍然是一个重大挑战。因此，目前只有不到4,000个基因具有任何器官系统的可用表型信息。在这里，我们报告的眼科研究结果从国际小鼠表型协会，一个大规模的功能性遗传筛选的目标是产生和表型为每个小鼠基因的无效突变。在评估的4364个基因中，确定了347个影响眼部表型，其中75%在眼部病理学中是全新的。这一发现大大增加了目前已知的导致眼科疾病的基因数量，并且很可能许多基因随后将被证明在人类眼部发育和疾病中是重要的。
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.