The human MLH1 cDNA complements DNA mismatch repair defects in Mlh1-deficient mouse embryonic fibroblasts

Cancer Res. 1999 Feb 1;59(3):538-41.

Abstract

The DNA mismatch repair gene hMLH1 is reported to function in mutation avoidance, cell cycle checkpoint control, the cytotoxicity of various DNA-damaging agents, and transcription-coupled nucleotide excision repair. Formal proof of the involvement of hMLH1 in these processes requires single gene complementation. We have stably expressed hMLH1 from a transfected cDNA in Mlh1-deficient mouse embryonic fibroblasts. Expression of hMLH1 restored normal levels of mPMS2 protein, reduced spontaneous base substitution and microsatellite mutations, increased sensitivity to the toxic effects of 6-thioguanine (6-TG), and restored 6-TG-induced cell cycle arrest. Our studies confirm that hMLH1 has an essential role in the maintenance of genomic stability and the potentiation of 6-TG cytotoxicity and provide a system for detailed structure/function analysis of the hMLH1 protein.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Animals
  • Antimetabolites, Antineoplastic / toxicity
  • Base Pair Mismatch*
  • Carrier Proteins
  • Cells, Cultured
  • DNA Repair / genetics*
  • DNA, Complementary / genetics*
  • DNA, Complementary / metabolism
  • Fibroblasts / metabolism
  • Fibroblasts / physiology
  • G2 Phase / drug effects
  • G2 Phase / physiology
  • Humans
  • Mice
  • MutL Protein Homolog 1
  • Mutation
  • Neoplasm Proteins / deficiency*
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / physiology
  • Nuclear Proteins
  • Thioguanine / toxicity
  • Transfection

Substances

  • Adaptor Proteins, Signal Transducing
  • Antimetabolites, Antineoplastic
  • Carrier Proteins
  • DNA, Complementary
  • MLH1 protein, human
  • Mlh1 protein, mouse
  • Neoplasm Proteins
  • Nuclear Proteins
  • MutL Protein Homolog 1
  • Thioguanine