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

MECP2 genomic structure and function: insights from ENCODE.

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Western Australian Institute for Medical Research, Centre for Medical Research, University of Western Australia, Australia.


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.

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