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Nucleic Acids Research Advance Access originally published online on September 27, 2008
Nucleic Acids Research 2008 36(19):6035-6047; doi:10.1093/nar/gkn591
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Nucleic Acids Research, 2008, Vol. 36, No. 19 6035-6047
© 2008 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MECP2 genomic structure and function: insights from ENCODE

Jasmine Singh1,2, Alka Saxena1, John Christodoulou3 and David Ravine1,2,*

1Western Australian Institute for Medical Research, Centre for Medical Research, University of Western Australia, 2School of Medicine and Pharmacology, University of Western Australia and 3Western Sydney Genetics Program, Children's Hospital at Westmead (Sydney), University of Sydney, Australia

*To whom correspondence should be addressed. Tel: +61 –8 9224 0349; Fax: +61 8 9224 0322; Email: ravine{at}waimr.uwa.edu.au

Received April 27, 2008. Revised September 2, 2008. Accepted September 3, 2008.

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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