Abstract:
:MeCP2 is a methyl-CpG binding protein that can repress transcription of nearby genes. In humans, mutations in the MECP2 gene are the major cause of Rett syndrome. By searching expressed sequence tag (EST) databases we have found a novel MeCP2 splice isoform (MeCP2alpha) which encodes a distinct N-terminus. We demonstrate that the MeCP2alpha mRNA splice variant is more abundant than the previously annotated MeCP2 mRNA (MeCP2beta) in mouse tissues and human brain. Furthermore, MeCP2beta mRNA has an upstream open reading frame that inhibits its translation. As a result of these differences, >90% of MeCP2 in mouse brain is MeCP2alpha. Both protein isoforms are nuclear and colocalize with densely methylated heterochromatic foci in mouse cells. The presence of a previously unknown MeCP2 isoform has implications for the genetic screening of Rett syndrome patients and for studies of the functional significance of MeCP2.
journal_name
Nucleic Acids Resjournal_title
Nucleic acids researchauthors
Kriaucionis S,Bird Adoi
10.1093/nar/gkh349keywords:
subject
Has Abstractpub_date
2004-03-19 00:00:00pages
1818-23issue
5eissn
0305-1048issn
1362-4962pii
32/5/1818journal_volume
32pub_type
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