摘要
SOX10基因(性别决定区盒基因,SRY-box 10)是调控神经嵴发育的关键转录因子。人类SOX10基因突变会导致神经嵴性疾病,如以耳聋及色素异常为主要表型的Waardenburg综合征。近年来发现SOX10在内耳发育早期即广泛表达于耳板及耳囊,且其突变可导致不同程度内耳畸形。本文重点讨论SOX10基因在内耳发育时期的动态表达,及其在内耳发育中的重要作用。
SOX10(SRI-box10)plays an essential role as a transcription factor in neural crest development.Mutationsof SOX10can induce disorders related to neural crest cells defects.For instance,Waardenburg syndrome(WS)inhumans is an auditory-pigmentary disorder characterized by sensorineural hearing loss and abnormal pigmentation ofthe hair,skin and iris.Recently,accumulating evidence shows that SOX10is widely expressed in the inner ear duringearly development,and that its mutations can result in various types of inner ear deformities.The current review focuseson expression patterns and crucial impacts of SOX10on inner ear development.
作者
郝青青
侯琨
钟玲玲
任巍
郭维维
杨仕明
HAO Qingqing;HOU Kun;ZHONG Lingling;REN Wei;GUO Weiwei;YANG Shiming(Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Key Laboratory of Hearing Impairment Science,Chinese PLA Medical School, Beijng, China;Medical School of Nankai University, Tianjin, China)
出处
《中华耳科学杂志》
CSCD
北大核心
2017年第2期245-248,共4页
Chinese Journal of Otology
基金
国家自然科学基金面上项目(81670940
81670941
81570933)
青年基金(81400472)
北京科技创新基地培育与发展专项(z151100001615050)~~
