Fragile X expression is decreased by 5-azacytidine and S-adenosylhomocysteine

Am J Hum Genet. 1983 Nov;35(6):1270-5.

Abstract

A lymphoblastoid cell line derived from a patient with fragile X chromosome exhibited fragility only when 5-fluoro-2'-deoxyuridine (FUdR) was added to the culture medium. Addition of methionine with FUdR greatly increased the frequency of fragile X. Addition of 5-azacytidine (an inhibitor of methylation at the level of DNA) or S-adenosylhomocysteine (an inhibitor of the synthesis of the methyl group donor S-adenosylmethionine) reversed the effect of methionine as well as that of FUdR. It is proposed that DNA methylation is in some way involved in the mechanism of fragile X expression.

MeSH terms

  • Azacitidine / pharmacology*
  • Cell Line
  • Culture Media
  • DNA / genetics*
  • DNA / metabolism
  • Dose-Response Relationship, Drug
  • Floxuridine
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / metabolism
  • Homocysteine / analogs & derivatives*
  • Humans
  • Karyotyping
  • Methionine / metabolism*
  • Methylation
  • S-Adenosylhomocysteine / pharmacology*
  • S-Adenosylmethionine / pharmacology
  • Sex Chromosome Aberrations / genetics*

Substances

  • Culture Media
  • Floxuridine
  • Homocysteine
  • S-Adenosylmethionine
  • DNA
  • S-Adenosylhomocysteine
  • Methionine
  • Azacitidine