Concerning the role of X-inactivation and DNA methylation in fragile X syndrome

Research output: Contribution to journalArticle

Abstract

Elucidation of the role of DNA methylation in X chromosome inactivation along with recent studies of the fragile X mutation suggests that DNA methylation is likely to be a late event in the pathogenesis of the fragile X syndrome. Thus far, the evidence does not support suggestions that an impediment to X reactivation and failure to demethylate the inactive X in oocytes is responsible for silencing the fragile X. The role of DNA methylation is probably secondary to amplification of the CGG repeat to a critical size whether on active or inactive X. Further studies are needed to determine if late replication of the inactive X predisposes the locus on that chromosome to more extensive amplification.

Original languageEnglish (US)
Pages (from-to)291-298
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume43
Issue number1-2
DOIs
StatePublished - 1992

Fingerprint

Fragile X Syndrome
X Chromosome Inactivation
DNA Methylation
Oocytes
Chromosomes
Mutation

Keywords

  • DNA methylation
  • Fragile X
  • genomic imprinting
  • X-inactivation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Concerning the role of X-inactivation and DNA methylation in fragile X syndrome. / Migeon, Barbara R.

In: American Journal of Medical Genetics, Vol. 43, No. 1-2, 1992, p. 291-298.

Research output: Contribution to journalArticle

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