Evolving role of MeCP2 in Rett syndrome and autism

Janine M LaSalle, Dag H. Yasui

Research output: Contribution to journalArticlepeer-review

76 Scopus citations


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 binding, methylation and gene expression have demonstrated that MeCP2 binds preferentially to intergenic and intronic regions, and sparsely methylated promoters of active genes. This review compares the evolution of thought within two 'classic' epigenetic mechanisms of parental imprinting and X chromosome inactivation to that of the MeCP2 field, and considers the future relevance of integrated epigenomic databases to understanding autism and Rett syndrome.

Original languageEnglish (US)
Pages (from-to)119-130
Number of pages12
Issue number1
StatePublished - Oct 2009


  • Autism
  • Chromatin
  • Epigenetic
  • Imprinting
  • MeCP2
  • Methylation
  • Rett syndrome
  • X chromosome inactivation

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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