PUBLICATION
The major form of MeCP2 has a novel N-terminus generated by alternative splicing
- Authors
- Kriaucionis, S., and Bird, A.
- ID
- ZDB-PUB-091002-2
- Date
- 2004
- Source
- Nucleic acids research 32(5): 1818-1823 (Journal)
- Registered Authors
- Keywords
- none
- MeSH Terms
-
- Alternative Splicing*
- Animals
- Brain/metabolism
- Cells, Cultured
- Chromosomal Proteins, Non-Histone*
- DNA-Binding Proteins/chemistry
- DNA-Binding Proteins/genetics*
- DNA-Binding Proteins/metabolism
- Expressed Sequence Tags
- Humans
- Methyl-CpG-Binding Protein 2
- Mice
- Protein Biosynthesis
- Protein Isoforms/analysis
- RNA, Messenger/metabolism
- Repressor Proteins*
- PubMed
- 15034150 Full text @ Nucleic Acids Res.
Citation
Kriaucionis, S., and Bird, A. (2004) The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic acids research. 32(5):1818-1823.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping