MeCP2: making sense of missense in Rett syndrome

Cell Res. 2013 Nov;23(11):1244-6. doi: 10.1038/cr.2013.109. Epub 2013 Aug 13.

Abstract

Fine scale genomic regulation is critical for maintaining genomic integrity and is often disrupted in neurodevelopmental disorders. An intriguing new study reveals the intricate biochemical complexity of de novo post-translational modifications of MeCP2, including activity-dependent protein-protein interactions that 'bridge' the nuclear receptor co-repressor (NCoR) complex to chromatin and lead to alterations in gene expression that characterize Rett syndrome.

MeSH terms

  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Mutation, Missense / genetics*
  • Protein Binding
  • Rett Syndrome / genetics*

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2