Carcinogens induce genome-wide loss of heterozygosity in normal stem cells without persistent chromosomal instability

Proc Natl Acad Sci U S A. 2006 Aug 1;103(31):11642-6. doi: 10.1073/pnas.0510741103. Epub 2006 Jul 25.

Abstract

Widespread losses of heterozygosity (LOH) in human cancer have been thought to result from chromosomal instability caused by mutations affecting DNA repair/genome maintenance. However, the origin of LOH in most tumors is unknown. The present study examined the ability of carcinogenic agents to induce LOH at 53 sites throughout the genome of normal diploid mouse ES cells. Brief exposures to nontoxic levels of methylnitrosourea, diepoxybutane, mitomycin C, hydroxyurea, doxorubicin, and UV light stimulated LOH at all loci at frequencies ranging from 1-8 x 10(-3) per cell (10-123 times higher than in untreated cells). This greatly exceeds the frequencies at which these agents have been reported to induce point mutations and is comparable to the rates of LOH observed in ES cells lacking the gene responsible for Bloom syndrome, an inherited DNA repair defect that results in greatly increased risk of cancer. These results suggest that LOH contributes significantly to the carcinogenicity of a variety of mutagens and raises the possibility that genome-wide LOH observed in some human cancers may reflect prior exposure to genotoxic agents rather than a state of chromosomal instability during the carcinogenic process. Finally, as a practical matter, chemically induced LOH is expected to enhance the recovery of homozygous recessive mutants from phenotype-based genetic screens in mammalian cells.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Carcinogens / pharmacology*
  • Cell Line
  • Chromosomal Instability*
  • Genome*
  • Genotype
  • Humans
  • Loss of Heterozygosity*
  • Mice
  • Mutation
  • Neoplasms / genetics
  • Phenotype
  • Stem Cells / cytology
  • Stem Cells / drug effects*
  • Stem Cells / physiology*

Substances

  • Carcinogens