The Rx homeobox gene is essential for vertebrate eye development
The Rx homeobox gene is essential for vertebrate eye development
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DOI：
10.1038/42475
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发表时间：
1997-06-05
期刊：
影响因子：
64.8
通讯作者：
Jamrich, M
中科院分区：
文献类型：
--
作者：
Mathers, PH;Grinberg, A;Jamrich, M
脊椎动物眼睛的发育需要一系列的步骤，包括前神经板的特化，视泡从腹侧前脑的外翻，以及透镜和视网膜的细胞分化。含有同源框的基因，特别是转录调节因子Pax 6，在脊椎动物和无脊椎动物眼睛的形成中起着关键作用。Pax 6功能的突变导致眼睛畸形，在人类中称为无虹膜，在小鼠中称为小眼综合征（1-3）。果蝇的Pax 6同源物，无眼，也是无脊椎动物眼睛正常发育所必需的，其错误表达导致果蝇异位眼的形成（4，5）。在这里，我们表明，一个保守的脊椎动物同源异型盒基因，Rx，是必不可少的正常眼睛的发展，它的错误表达对眼睛的形态有深远的影响。注射合成Rx RNA的非洲爪蟾胚胎发育异位视网膜组织，并在神经视网膜中显示过度增殖。携带该基因无效等位基因的小鼠胚胎不会形成视杯，因此不会发育出眼睛。Rx基因家族在视网膜祖细胞的建立和/或增殖中起重要作用。
Development of the vertebrate eye requires a series of steps including specification of the anterior neural plate, evagination of the optic vesicles from the ventral forebrain, and the cellular differentiation of the lens and retina. Homeobox-containing genes, especially the transcription regulator Pax6, play a critical role in vertebrate and invertebrate eye formation. Mutations in Pax6 function result in eye malformations known as Aniridia in humans and Small eye syndrome in mice(1-3). The Drosophila homologue of Pax6, eyeless, is also necessary for correct invertebrate eye development, and its misexpression leads to formation of ectopic eyes in Drosophila(4,5). Here we show that a conserved vertebrate homeobox gene, Rx, is essential for normal eye development, and that its misexpression has profound effects on eye morphology. Xenopus embryos injected with synthetic Rx RNA develop ectopic retinal tissue and display hyperproliferation in the neuroretina. Mouse embryos carrying a null allele of this gene do not form optic cups and so do not develop eyes. The Rx gene family plays an important role in the establishment and/or proliferation of retinal progenitor cells.