Proc Natl Acad Sci USA. 2007 Nov 27.
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes.
Yasui DH, Peddada S, Bieda MC, Vallero RO, Hogart A, Nagarajan RP, Thatcher KN, Farnham PJ, Lasalle JM.
Departments of Medical Microbiology and Immunology and Pharmacology, Rowe Program in Human Genetics, and Genome Center, School of Medicine, University of California, 1 Shields Avenue, Davis, CA.

Mutations in MECP2 cause the autism-spectrum disorder Rett syndrome. MeCP2 is predicted to bind to methylated promoters and silence transcription. However, the first large-scale mapping of neuronal MeCP2-binding sites on 26.3 Mb of imprinted and nonimprinted loci revealed that 59% of MeCP2-binding sites are outside of genes and that only 6% are in CpG islands. Integrated genome-wide promoter analysis of MeCP2 binding, CpG methylation, and gene expression revealed that 63% of MeCP2-bound promoters are actively expressed and that only 6% are highly methylated. These results indicate that the primary function of MeCP2 is not the silencing of methylated promoters.

Categories: 2007, MECP2, Autism, RettSyndrome