Methyl-CpG-binding protein 2 mutations in Rett syndrome - PubMed (original) (raw)

Review

Methyl-CpG-binding protein 2 mutations in Rett syndrome

I B Van den Veyver et al. Curr Opin Genet Dev. 2000 Jun.

Abstract

The X-linked methyl-CpG-binding protein 2 gene (MECP2) encodes a protein that links DNA methylation to transcriptional repression mediated by histone deacetylases. Mutations in MECP2 have been found in 76% of classic Rett syndrome patients. Favourable nonrandom X chromosome inactivation ameliorates the phenotype.

PubMed Disclaimer

Similar articles

• Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
  Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP. Hoffbuhr KC, et al. Ment Retard Dev Disabil Res Rev. 2002;8(2):99-105. doi: 10.1002/mrdd.10026. Ment Retard Dev Disabil Res Rev. 2002. PMID: 12112735 Review.
• Rett syndrome: a surprising result of mutation in MECP2.
  Dragich J, Houwink-Manville I, Schanen C. Dragich J, et al. Hum Mol Genet. 2000 Oct;9(16):2365-75. doi: 10.1093/hmg/9.16.2365. Hum Mol Genet. 2000. PMID: 11005791 Review.
• The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome.
  Nan X, Bird A. Nan X, et al. Brain Dev. 2001 Dec;23 Suppl 1:S32-7. doi: 10.1016/s0387-7604(01)00333-3. Brain Dev. 2001. PMID: 11738839 Review.
• Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.
  Van den Veyver IB, Zoghbi HY. Van den Veyver IB, et al. Brain Dev. 2001 Dec;23 Suppl 1:S147-51. doi: 10.1016/s0387-7604(01)00376-x. Brain Dev. 2001. PMID: 11738862 Review.
• Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.
  Chae JH, Hwang H, Hwang YS, Cheong HJ, Kim KJ. Chae JH, et al. J Child Neurol. 2004 Jul;19(7):503-8. doi: 10.1177/08830738040190070501. J Child Neurol. 2004. PMID: 15526954

Cited by

• Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.
  Das DK, Udani V, Sanghavi D, Adhia R, Maitra A. Das DK, et al. J Clin Lab Anal. 2013 Mar;27(2):137-42. doi: 10.1002/jcla.21574. Epub 2013 Feb 11. J Clin Lab Anal. 2013. PMID: 23400946 Free PMC article.
• Above and within the genome: epigenetics past and present.
  Urnov FD, Wolffe AP. Urnov FD, et al. J Mammary Gland Biol Neoplasia. 2001 Apr;6(2):153-67. doi: 10.1023/a:1011304606604. J Mammary Gland Biol Neoplasia. 2001. PMID: 11501576 Review.
• Rett syndrome and the MECP2 gene.
  Webb T, Latif F. Webb T, et al. J Med Genet. 2001 Apr;38(4):217-23. doi: 10.1136/jmg.38.4.217. J Med Genet. 2001. PMID: 11283201 Free PMC article. Review. No abstract available.
• 7,8-dihydroxyflavone exhibits therapeutic efficacy in a mouse model of Rett syndrome.
  Johnson RA, Lam M, Punzo AM, Li H, Lin BR, Ye K, Mitchell GS, Chang Q. Johnson RA, et al. J Appl Physiol (1985). 2012 Mar;112(5):704-10. doi: 10.1152/japplphysiol.01361.2011. Epub 2011 Dec 22. J Appl Physiol (1985). 2012. PMID: 22194327 Free PMC article.
• Sequence features accurately predict genome-wide MeCP2 binding in vivo.
  Rube HT, Lee W, Hejna M, Chen H, Yasui DH, Hess JF, LaSalle JM, Song JS, Gong Q. Rube HT, et al. Nat Commun. 2016 Mar 24;7:11025. doi: 10.1038/ncomms11025. Nat Commun. 2016. PMID: 27008915 Free PMC article.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Elsevier Science

• Medical

  • MedlinePlus Health Information