MeCP2与神经发育性疾病  

MeCP2 and neurodevelopmental disorders

作　　者：何艳琴[1,2] 公晓红[2] 张宏丽[1] 王红艳[2] 杨章民[1] 

机构地区：[1]陕西师范大学生命科学学院,西安710062 [2]复旦大学生命科学学院,上海200433

出　　处：《生命科学》2012年第4期374-379,共6页Chinese Bulletin of Life Sciences

基　　金：国家自然科学基金项目(30900404);国家重点基础研究发展计划("973"项目)(2009CB522007)

摘　　要：作为一种转录抑制因子,甲基化CpG结合蛋白2(MeCP2)含有结合甲基化DNA和转录抑制两个特征性的结构域,具有调节转录激活、调节染色体构象、参与RNA剪切等多种功能,在神经发育过程中起着重要的作用。近来的研究表明,MeCP2基因突变与Rett综合征、孤独症等多种神经发育性疾病相关,已成为研究基因型与人类神经发育性疾病关系的一个热点。就MeCP2在Rett综合征、孤独症及药物成瘾方面的进展作一综述。As a transcription repressor, methyl-CpG binding protein 2 （MeCP2） comprises two functional domains： methyl DNA binding domain and a transcription repression domain. MeCP2, which acts as a multifunctional nuclear protein in several cellular aspects（such as the chromatin remodelling, transcription activation, regulation of RNA splicing and so on）, may plays important roles in the process of neural development. Recent researches show that MeCP2 gene mutation is implicated in neurodevelopmental disorder, including Rett syndrome and autism. So MeCP2 gene has become a hotspot in the study of the relationship between the genotype and the human neurodevelopmental diseases. This review summarizes the latest advances on MeCP2 in Rett syndrome, autism and drug addiction.

关 键 词：甲基化CpG结合蛋白2 RTT 孤独症 药物成瘾 

分 类 号：R749[医药卫生—神经病学与精神病学] R742.8[医药卫生—临床医学]