MSH2-deficient human cells exhibit a defect in the accurate termination of homology-directed repair of DNA double-strand breaks

Cancer Res. 2003 Jun 15;63(12):3334-9.

Abstract

Mutations in the mismatch repair (MMR) genes hMSH2 and hMLH1 have been associated with hereditary nonpolyposis colorectal cancer. Tumor cell lines that are deficient in MMR exhibit a high mutation rate, a defect in the response to certain types of DNA damage and in transcription-coupled repair, as well as an increase in the rate of gene amplification. We show here that hMSH2-deficient tumor cell lines lost most of their ability to accurately repair plasmid DNA double-strand breaks (DSBs) by homologous recombination, compared with MMR-proficient or hMLH1-deficient tumor cell lines. In all of these cell lines, DSB repair occurred almost exclusively by nonreciprocal homologous recombination: gene conversion (GC). However, there were two types of GC products: precise and rearranged. The rearranged products contained deletions or insertions of sequences and represented GC intermediates trapped at various stages and shunted to nonhomologous end joining. In MMR-proficient or MLH1-deficient cells, >50% of GC products were of the precise type, whereas in two MSH2-deficient backgrounds, this proportion decreased to 8%, whereas that of rearranged GC products increased by 2-fold. These results seem to predict a novel way by which MSH2-deficiency could promote mutation: deletion or insertion mutations associated with DSB repair, which may also contribute to cancer predisposition.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology
  • Base Pair Mismatch / genetics*
  • Cell Transformation, Neoplastic / genetics
  • Colorectal Neoplasms / genetics
  • Colorectal Neoplasms / pathology
  • DNA Repair / genetics*
  • DNA Replication
  • DNA, Bacterial / metabolism
  • DNA-Binding Proteins*
  • Gene Conversion*
  • Genetic Predisposition to Disease
  • Humans
  • MutS Homolog 2 Protein
  • Mutagenesis*
  • Mutagenesis, Insertional
  • Plasmids / genetics
  • Proto-Oncogene Proteins / deficiency*
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / physiology
  • Recombination, Genetic*
  • Sequence Deletion
  • Tumor Cells, Cultured / metabolism

Substances

  • DNA, Bacterial
  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • MSH2 protein, human
  • MutS Homolog 2 Protein