Spotlight on Rett Syndrome : Review The Odyssey of MeCP 2 and Parental Imprinting
نویسنده
چکیده
DNA methylation in mammals has long been implicated in the epigenetic mechanism of parental imprinting, in which selective expression of one allele of specific genes is based on parental origin. Methyl CpG binding protein 2 (MeCP2) selectively binds to methylated DNA and mutations in the MECP2 cause the autism‐spectrum neurodevelop‐ mental disorder Rett syndrome. This review outlines the emerging story of how MeCP2 has been implicated in the regulation of specific imprinted genes and loci, including UBE3A and DLX5. The story of MeCP2 and parental imprinting has unfolded with some interesting but unexpected twists, revealing new insights on the function of MeCP2 in the process.
منابع مشابه
Evolving role of MeCP2 in Rett syndrome and autism.
Rett syndrome is an X-linked autism-spectrum disorder caused by mutations in MECP2, encoding methyl CpG-binding protein 2. Since the discovery of MECP2 mutations as the genetic cause of Rett syndrome, the understanding of MeCP2 function has evolved. Although MeCP2 was predicted to be a global transcriptional repressor of methylated promoters, large-scale combined epigenomic approaches of MeCP2 ...
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تاریخ انتشار 2007