《生命科学》 2012, 24(4): 374-379

MeCP2与神经发育性疾病

何艳琴^1，2，公晓红²，王红艳²，杨章民^1*

(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)

摘　要：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。
关键词：甲基化CpG结合蛋白2；RTT；孤独症；药物成瘾

MeCP2 and neurodevelopmental disorders

HE Yan-Qin^1，2， GONG Xiao-Hong²， WANG Hong-Yan²， YANG Zhang-Min^1*

(1 Shaanxi Normal University School of Life Sciences， Xi’an 710062， China; 2 School of Life Sciences， Fudan University， Shanghai 200433， China)

Abstract: Abstract: 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.
Key words: methyl-CpG binding protein 2; Rett syndrome; autism; drug addiction