Defects in homologous recombination repair in mismatch-repair-deficient tumour cell lines

Hum Mol Genet. 2002 Sep 1;11(18):2189-200. doi: 10.1093/hmg/11.18.2189.

Abstract

Loss of mismatch repair (MMR) leads to a complex mutator phenotype that appears to drive the development of a subset of colon cancers. Here we show that MMR-deficient tumour cell lines are highly sensitive to the toxic effects of thymidine relative to MMR-proficient lines. This sensitivity was not a direct consequence of MMR deficiency or alterations of DNA precursor metabolism. Instead, MMR-defective tumour cell lines are also defective in homologous recombination repair (HRR) induced by DNA double-strand breaks. Furthermore, a frameshift mutation of the human RAD51 paralog XRCC2 found in the MMR-deficient uterine tumour cell line SKUT-1 can confer thymidine sensitivity when introduced into a MMR-proficient line. Like other cells with defective XRCC2, SKUT-1 is sensitive to mitomycin C, and MMR-proficient cells expressing the mutant XRCC2 allele become more sensitive to this agent. These data suggest that the thymidine sensitivity of MMR-deficient tumour cell lines may be a consequence of defects in the HRR pathway. The increased thymidine sensitivity and the loss of an important pathway for the repair of DNA double-strand breaks create new opportunities for therapies directed specifically against this subset of tumours.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Pair Mismatch*
  • DNA Repair* / genetics
  • DNA Repair* / physiology
  • DNA-Binding Proteins / drug effects
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism
  • Deoxyribonucleotides / metabolism
  • Humans
  • Mitomycin / pharmacology
  • Molecular Sequence Data
  • Mutation
  • Nucleic Acid Synthesis Inhibitors / pharmacology
  • Recombination, Genetic*
  • Thymidine / metabolism
  • Tumor Cells, Cultured / drug effects
  • Tumor Cells, Cultured / metabolism

Substances

  • DNA-Binding Proteins
  • Deoxyribonucleotides
  • Nucleic Acid Synthesis Inhibitors
  • XRCC2 protein, human
  • Mitomycin
  • Thymidine