Burmeister M, Novak J, Liang M Y, Basu S, Ploder L, Hawes N L, Vidgen D, Hoover F, Goldman D, Kalnins V I, Roderick T H, Taylor B A, Hankin M H, McInnes R R
Mental Health Research Institute, University of Michigan, Ann Arbor 48109-0720, USA.
Nat Genet. 1996 Apr;12(4):376-84. doi: 10.1038/ng0496-376.
Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature bipolar cells. No CHX10 protein was detectable in the retinal neuroepithelium of orJ homozygotes. The loss of CHX10 leads both to reduced proliferation of retinal progenitors and to a specific absence of differentiated bipolar cells. Other major retinal cell types were present and correctly positioned in the mutant retina, although rod outer segments were short and retinal lamination was incomplete. These results indicate that Chx10 is an essential component in the network of genes required for the development of the mammalian eye, with profound effects on retinal progenitor proliferation and bipolar cell specification or differentiation. off
眼发育迟缓（or）是一种小鼠眼部突变，可导致小眼症、薄的细胞减少性视网膜和视神经发育不全。我们在此表明，携带OrJ等位基因的小鼠在Chx10基因的同源框中有一个过早的终止密码子，该基因在未分化的视网膜祖细胞和成熟双极细胞中高水平表达。在orJ纯合子的视网膜神经上皮中未检测到CHX10蛋白。CHX10的缺失既导致视网膜祖细胞增殖减少，又导致分化的双极细胞特异性缺失。尽管视杆外段较短且视网膜分层不完整，但其他主要视网膜细胞类型存在于突变视网膜中且定位正确。这些结果表明，Chx10是哺乳动物眼睛发育所需基因网络中的一个重要组成部分，对视网膜祖细胞增殖和双极细胞的特化或分化有深远影响。 关闭
