Mutation spectrum of MSH3-deficient HHUA/chr.2 cells reflects in vivo activity of the MSH3 gene product in mismatch repair

Mutat Res. 2000 Feb 14;447(2):155-64. doi: 10.1016/s0027-5107(99)00199-2.

Abstract

The endometrial tumor cell line HHUA carries mutations in two mismatch repair (MMR) genes MSH3 and MSH6. We have established an MSH3-deficient HHUA/chr.2 cell line by introducing human chromosome 2, which carries wild-type MSH6 and MSH2 genes, to HHUA cells. Introduction of chromosome 2 to HHUA cells partially restored G:G MMR activity to the cell extract and reduced the frequency of mutation at the hypoxanthine-guanine phosphoribosyltransferase (hprt*) locus to about 3% that of the parental HHUA cells, which is five-fold the frequency in MMR-proficient cells, indicating that the residual mutator activity in HHUA/chr.2 is due to an MSH3-deficiency in these cells. The spectrum of mutations occurring at the HPRT locus of HHUA/chr.2 was determined with 71 spontaneous 6TG(r) clones. Base substitutions and +/-1 bp frameshifts were the major mutational events constituting, respectively, 54% and 42% of the total mutations, and more than 70% of them occurred at A:T sites. A possible explanation for the apparent bias of mutations to A:T sites in HHUA/chr.2 is haploinsufficiency of the MSH6 gene on the transferred chromosome 2. Comparison of the mutation spectra of HHUA/chr.2 with that of the MSH6-deficient HCT-15 cell line [S. Ohzeki, A. Tachibana, K. Tatsumi, T. Kato, Carcinogenesis 18 (1997) 1127-1133.] suggests that in vivo the MutSalpha (MSH2:MSH6) efficiently repairs both mismatch and unpaired extrahelical bases, whereas MutSbeta (MSH2:MSH3) efficiently repairs extrahelical bases and repairs mismatch bases to a limited extent.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Base Pair Mismatch / genetics*
  • Base Sequence
  • Chromosomes, Human, Pair 2 / genetics
  • DNA Mutational Analysis
  • DNA Repair / genetics*
  • DNA-Binding Proteins / deficiency*
  • DNA-Binding Proteins / genetics
  • Frameshift Mutation
  • Humans
  • Hybrid Cells
  • Hypoxanthine Phosphoribosyltransferase / genetics
  • Multidrug Resistance-Associated Proteins*
  • MutS Homolog 3 Protein
  • Mutagenesis, Insertional
  • Mutation
  • Point Mutation
  • Sequence Deletion
  • Tumor Cells, Cultured

Substances

  • DNA-Binding Proteins
  • G-T mismatch-binding protein
  • MSH3 protein, human
  • Multidrug Resistance-Associated Proteins
  • MutS Homolog 3 Protein
  • Hypoxanthine Phosphoribosyltransferase
  • multidrug resistance-associated protein 1