PAX6: 25th anniversary and more to learn
PAX6: 25th anniversary and more to learn
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DOI：
10.1016/j.exer.2016.04.017
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发表时间：
2017-03-01
影响因子：
3.4
通讯作者：
Callaerts, Patrick
中科院分区：
文献类型：
--
作者：
Cvekl, Ales;Callaerts, Patrick
DNA结合转录因子PAX6是25年前由多个团队克隆的，这些团队致力于鉴定人类和小鼠眼部疾病的致病基因，克隆果蝇中鉴定的模式形成调控基因的脊椎动物同源物，或丰富的眼睛特异性转录物。自1991年发现以来，Pax6的遗传、细胞、分子和进化研究在20世纪90年代中期如雨后春笋般涌现，导致了关于遗传程序的变革性思考，这些遗传程序协调了眼睛形态发生的早期和晚期阶段，以及不同视觉系统的起源和进化。由于Pax6也在眼外表达，即在中枢神经系统和胰腺中，因此已经积累了许多关于这些器官的发育和功能的重要见解。近年来，利用大规模并行DNA测序的全基因组技术已经开始提供对眼细胞和神经发生的规范、确定和分化的监管层次的公正见解。本文综述了模式生物中Pax6基因研究驱动的哺乳动物眼睛发育研究的主要进展，以及利用技术驱动的机会逐步重建从幼稚外胚层、神经上皮和眼周间充质神经嵴细胞到眼睛三维结构的过渡的未来挑战。(C)2016由Elsevier Ltd.出版
The DNA-binding transcription factor PAX6 was cloned 25 years ago by multiple teams pursuing identification of human and mouse eye disease causing genes, cloning vertebrate homologues of pattern forming regulatory genes identified in Drosophila, or abundant eye-specific transcripts. Since its discovery in 1991, genetic, cellular, molecular and evolutionary studies on Pax6 mushroomed in the mid 1990s leading to the transformative thinking regarding the genetic program orchestrating both early and late stages of eye morphogenesis as well as the origin and evolution of diverse visual systems. Since Pax6 is also expressed outside of the eye, namely in the central nervous system and pancreas, a number of important insights into the development and function of these organs have been amassed. In most recent years, genome-wide technologies utilizing massively parallel DNA sequencing have begun to provide unbiased insights into the regulatory hierarchies of specification, determination and differentiation of ocular cells and neurogenesis in general. This review is focused on major advancements in studies on mammalian eye development driven by studies of Pax6 genes in model organisms and future challenges to harness the technology-driven opportunities to reconstruct, step-by-step, the transition from naive ectoderm, neuroepithelium and periocular mesenchymeineural crest cells into the three-dimensional architecture of the eye. (C) 2016 Published by Elsevier Ltd.