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标题：Genetic background-dependent role of Egr1 for eyelid development
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作者：Jangsuk Oh ; Yujuan Wang ; Shida Chen 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：2017
卷号：114
期号：34
页码：E7131-E7139
DOI：10.1073/pnas.1705848114
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：EGR1 is an early growth response zinc finger transcription factor with broad actions, including in differentiation, mitogenesis, tumor suppression, and neuronal plasticity. Here we demonstrate that Egr1 ^−/− mice on the C57BL/6 background have normal eyelid development, but back-crossing to BALB/c background for four or five generations resulted in defective eyelid development by day E15.5, at which time EGR1 was expressed in eyelids of WT mice. Defective eyelid formation correlated with profound ocular anomalies evident by postnatal days 1–4, including severe cryptophthalmos, microphthalmia or anophthalmia, retinal dysplasia, keratitis, corneal neovascularization, cataracts, and calcification. The BALB/c albino phenotype-associated Tyr ^c tyrosinase mutation appeared to contribute to the phenotype, because crossing the independent Tyr ^c-2J allele to Egr1 ^−/− C57BL/6 mice also produced ocular abnormalities, albeit less severe than those in Egr1 ^−/− BALB/c mice. Thus EGR1, in a genetic background-dependent manner, plays a critical role in mammalian eyelid development and closure, with subsequent impact on ocular integrity.
关键词：Egr1 ; eyelid development ; ocular abnormalities ; tyrosinase ; genetic background-specific effects