Rett综合征和DNA甲基化

Rett Syndrome and DNA Methylation

DNA甲基化是一种在生物界普遍存在的生命现象,在染色体失活和基因印记以及基因沉默方面起着重要的作用。甲基化CpG结合蛋白2(methyl-CpG-binding protein2,MeCP2)作为一种转录抑制因子能够与甲基化的DNA结合,在基因的转录过程中发挥主要作用,其编码基因MECP2是神经发育性遗传病-Rett综合征的主要致病基因,现主要介绍DNA甲基化和Rett综合征之间的关系。

DNA methylation is probably universal in vertebrates and plays an important role m inactivation of the X-chromosome, genomic imprinting and gene silencing. The methyl-CpG-binding protein 2 （MeCP2） is a transcriptional repressor which binds to a single symmetrically methylated CpG site to mediate transcriptional repression. Mutations in MECP2 gene cause the X-linked neurodevelopmental disease, Rett syndrome（RTY）. The article introduces the relationship between RTT syndrome and DNA methlylation.