Regulatory functions and pathological relevance of the MECP23′UTR in the central nervous system

作     者：Heather McGowan Zhiping P.Pang 

作者机构：Department of Neuroscience and Cell BiologyChild Health Institute of New JerseyRutgers University Robert Wood Johnson Medical School89 French StreetRoom 3277New BrunswickNJ 08901USA 

出 版 物：《Cell Regeneration》 (细胞再生（英文）)

年 卷 期：2015年第4卷第1期

页      面：84-93页

学科分类：1001[医学-基础医学(可授医学、理学学位)] 10[医学] 

基　　金：We want to thank the support from NIH-NINDS F31NS084551 NRSA predoctoral fellowship and the Jérôme LeJeune Foundation 

主　　题：Methyl-CpG-binding protein 2,3'untranslated region Autism Rett syndrome 

摘      要：Methyl-CpG-binding protein 2(MeCP2),encoded by the gene MECP2,is a transcriptional regulator and chromatinremodeling protein,which is ubiquitously expressed and plays an essential role in the development and maintenance of the central nervous system(CNS).Highly enriched in post-migratory neurons,MeCP2 is needed for neuronal maturation,including dendritic arborization and the development of ***-of-function mutations in MECP2 cause Rett syndrome(RTT),a debilitating neurodevelopmental disorder characterized by a phase of normal development,followed by the progressive loss of milestones and cognitive *** a great deal has been discovered about the structure,function,and regulation of MeCP2 in the time since its discovery as the genetic cause of RTT,including its involvement in a number of RTT-related syndromes that have come to be known as MeCP2-spectrum disorders,much about this multifunctional protein remains *** unequivocal fact that has become apparent is the importance of maintaining MeCP2 protein levels within a narrow range,the limits of which may depend upon the cell type and developmental time *** such,MeCP2 is amenable to complex,multifactorial ***,we summarize the role of the MECP23 untranslated region(UTR)in the regulation of MeCP2 protein levels and how mutations in this region contribute to autism and other non-RTT neuropsychiatric disorders.