Fanconi anemia mutation causes cellular susceptibility to ambient oxygen

Am J Hum Genet. 1988 Oct;43(4):429-35.

Abstract

The gene defect causing the Fanconi anemia (FA) phenotype appears to be expressed at the cellular level, since FA fibroblasts show a protracted course of explant outgrowth, a diminished in vitro life span, and very poor cloning. We show that exposure of FA fibroblasts to hypoxic (5% v/v oxygen) culture conditions restores their growth in vitro to near normal. Exposure to elevated oxygen tension (35% v/v) causes accumulations of FA cells in the S and G2/M phases of the cell cycle that are in significant excess of those seen in heterozygote and control strains. In the absence of evidence for defective cytoplasmatic radical scavenging systems, these observations suggest increased nuclear susceptibility to ambient oxygen as cause of the FA cellular phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Aplastic / genetics*
  • Cells, Cultured
  • Child, Preschool
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / pathology
  • Fibroblasts / drug effects
  • Fibroblasts / pathology
  • Heterozygote
  • Humans
  • Interphase
  • Mitosis
  • Mutation*
  • Oxygen / pharmacology*

Substances

  • Oxygen