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

Research output: Contribution to journalReview articlepeer-review

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 - Jun 1 1992

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Concerning the role of X-inactivation and DNA methylation in fragile X syndrome'. Together they form a unique fingerprint.

Cite this