MECP2 genomic structure and function: insights from ENCODE

Nucleic Acids Res. 2008 Nov;36(19):6035-47. doi: 10.1093/nar/gkn591. Epub 2008 Sep 27.


MECP2, a relatively small gene located in the human X chromosome, was initially described with three exons transcribing RNA from which the protein MeCP2 was translated. It is now known to have four exons from which two isoforms are translated; however, there is also evidence of additional functional genomic structures within MECP2, including exons potentially transcribing non-coding RNAs. Accompanying the recognition of a higher level of intricacy within MECP2 has been a recent surge of knowledge about the structure and function of human genes more generally, to the extent that the definition of a gene is being revisited. It is timely now to review the published and novel functional elements within MECP2, which is proving to have a complexity far greater than was previously thought.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genome, Human
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Methyl-CpG-Binding Protein 2 / physiology*
  • Regulatory Elements, Transcriptional


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