Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg1878.pdf
Reference94 articles.
1. Bird, A. DNA methylation patterns and epigenetic memory. Genes Dev. 16, 6–21 (2002).
2. Robertson, K. D. DNA methylation and human disease. Nature Rev. Genet. 6, 597–610 (2005). An excellent review of DNA methylation and human disease that documents the links between DNA methylation and cancer, DNA methylation and imprinting disorders, and DNA methylation and repeat-instability diseases.
3. Amir, R. E. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genet. 23, 185–188 (1999). This is the first report that mutations in MECP2 are responsible for Rett syndrome. Mutations were found in 25% of patients and the authors suggest a loss-of-function mechanism.
4. Fan, G. & Hutnick, L. Methyl-CpG binding proteins in the nervous system. Cell Res. 15, 255–261 (2005).
5. Klose, R. J. et al. DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG. Mol. Cell 19, 667–678 (2005).
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