认识人类配对盒基因Pax6,一个控制眼和大脑发育的关键基因

摘要

Background Paired box gene 6 (Pax6) is a master regulator for eye and brain development.Pax6 mutations or changes in its expression cause a series of ocular diseases including absence of iris,corneal opacity,cataract,glaucoma,abnormal fovea,retinoblastoma,and Wilm's tumor-aniridia-qenital ahormalies-retardation (WAGR).As a transcription factor,it is expressed in the region of anterior surface ectoderm corresponding to the future adenohypophyseal,olfactory and lens placodes,optic vesicle and other parts of the future brain and thus control the development of eye,brain,pituitary grand,nose and pancreas.Pax6 exists in 4 different isoforms,whose functions are subjected to regulation by different post-translation modifications.A complete understanding of the structure and functions of Pax6 and its associations with relevant diseases is helpful for ophthalmologists to investigate the pathogenesis and treatment of implicated ocular diseases caused by Pax6 gene mutation or changing in its expression.%人类配对盒基因6(Pax6)是控制眼和大脑发育的关键基因.Pax6基因突变或表达水平改变导致一系列的眼部疾病.作为转录因子,Pax6在胚胎发育早期多个不同组织原基表达,单独或与其他转录因子共同作用,直接或间接调控不同下游基因的表达来调控眼、大脑、垂体、鼻及胰脏的发育.Pax6存在4种异构体,其功能受多种翻译后修饰的调控.全面认识Pax6的结构与功能及其与各种疾病的关系有助于眼科医师研究其突变或表达改变而引起的相关眼病的病理机制,为相关疾病的防治提供新的思路.