期刊论文

Ma Yun

中文

生物化学与生物物理进展

1000-3282

2016

43

9

880-886

10.16476/j.pibb.2016.0024

National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81200881]; Hunan Provincial Natural Science Foundation of ChinaNatural Science Foundation of Hunan Province [12116073]; Hunan Provincial Education Department of China [14B158]

本校为第一且通讯机构

脆性X综合征(fragile X syndrome,FXS)是最常见的遗传性认知障碍疾病,也是一种与自闭症谱系障碍(autism spectrum disorder,ASD)相关的严重的基因疾病.它主要是由于脆性X智力低下基因1(fragile X mental retardation 1,FMR1)的异常扩增及其上游CpG岛的异常甲基化,导致其编码的脆性X智力低下蛋白(fragile X mental retardation protein,FMRP)表达减少或缺失引起的.FMRP与miRNA(microRNA)均具有翻译抑制活性,而且FMRP在生物化学和遗传学上均与miRNA调控通路有相互作用.此外,越来越多的研究发现miRNA调控通路在FXS的发病和治疗中发挥作用.因此,本文对miRNA的功能及其与脆性X蛋白家族成员间的相互作...

Fragile X syndrome(FXS) is the most common inherited cognitive disorder, and is also a kind of severe gene diseases associating with autism spectrum disorders (ASDs). It is principally caused by the abnormal amplification of fragile X mental retardation gene 1 (FMR1) and abnormal methylation of CpG island on its upstream, then leading to the reduction or deficiency of its protein product fragile X mental retardation protein (FMRP). Both FMRP and miRNA have transcriptional repression activity, and FMRP was related to miRNA regulation pathway in the biochemical and genetic. In addition, more and...