MECP2 encodes a protein that binds to methylated DNA. MeCP2 protein bind methylated DNA and repress transcription.
Pathology
mutations of MECP2 in Rett syndrome
- abnormal gene expression patterns within the first year of life.
- Girls with Rett syndrome display reduced brain growth, loss of developmental milestones and profound mental disabilities.
See also
DNA methylation
methyl-DNA-binding proteins
References
Caballero IM, Hendrich B. MeCP2 in neurons: closing in on the causes of Rett syndrome. Hum Mol Genet. 2005 Apr 15;14 Spec No 1:R19-26. PMID: 15809268
Kriaucionis S, Bird A. DNA methylation and Rett syndrome. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R221-7. Epub 2003 Aug 19. PMID: 12928486
Dragich J, Houwink-Manville I, Schanen C. Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet. 2000 Oct;9(16):2365-75. PMID: 11005791