MECP2 genomic structure and function: insights from ENCODE.
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.
Singh
Jasmine
J
Western Australian Institute for Medical Research, Centre for Medical Research, University of Western Australia, Australia.
Saxena
Alka
A
Christodoulou
John
J
Ravine
David
D
D015894:Genome, Human; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics* / Q000502:physiology*; D050436:Regulatory Elements, Transcriptional
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2