Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

Nature. 2015 Jun 4;522(7554):89-93. doi: 10.1038/nature14319. Epub 2015 Mar 11.

Abstract

Disruption of the MECP2 gene leads to Rett syndrome (RTT), a severe neurological disorder with features of autism. MECP2 encodes a methyl-DNA-binding protein that has been proposed to function as a transcriptional repressor, but despite numerous mouse studies examining neuronal gene expression in Mecp2 mutants, no clear model has emerged for how MeCP2 protein regulates transcription. Here we identify a genome-wide length-dependent increase in gene expression in MeCP2 mutant mouse models and human RTT brains. We present evidence that MeCP2 represses gene expression by binding to methylated CA sites within long genes, and that in neurons lacking MeCP2, decreasing the expression of long genes attenuates RTT-associated cellular deficits. In addition, we find that long genes as a population are enriched for neuronal functions and selectively expressed in the brain. These findings suggest that mutations in MeCP2 may cause neurological dysfunction by specifically disrupting long gene expression in the brain.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Brain / metabolism
  • DNA (Cytosine-5-)-Methyltransferases / metabolism
  • DNA Methylation / genetics*
  • DNA Methyltransferase 3A
  • Disease Models, Animal
  • Female
  • Gene Expression Regulation
  • Humans
  • Male
  • Methyl-CpG-Binding Protein 2 / deficiency
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Methyl-CpG-Binding Protein 2 / metabolism*
  • Mice
  • Molecular Sequence Data
  • Mutation / genetics*
  • Neurons / metabolism
  • Rett Syndrome / genetics*

Substances

  • DNMT3A protein, human
  • Methyl-CpG-Binding Protein 2
  • DNA (Cytosine-5-)-Methyltransferases
  • DNA Methyltransferase 3A

Associated data

  • GEO/GSE60077