Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes

Biochem Biophys Res Commun. 1994 Nov 15;204(3):1257-64. doi: 10.1006/bbrc.1994.2598.


Mutations in genes associated with the DNA mismatch repair system were considered to play important roles in predisposition to cancer, since hMSH2 and hMLH1, human homologues of yeast MSH2 and MLH1 as well as bacterial mutS and mutL genes, were found to be involved in hereditary nonpolyposis colorectal cancer (HNPCC). In addition, yeast PMS1 that is homologous to bacterial mutL and hexB, has also been proven to be related to the DNA mismatch repair system. As the first step to understand whether human homologue of the yeast PMS1 gene is associated with genetic predisposition to cancer, we have isolated and analyzed human counterpart of yeast PMS1 genes. DNA sequencing analyses indicated that human PMS genes constituted a multiple gene family and that some of the family members have been mapped to chromosomal bands 7q11.23 and 7q22 by fluorescent in situ hybridization.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Brain / metabolism
  • Carrier Proteins*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • Cloning, Molecular
  • DNA / chemistry
  • DNA / genetics
  • DNA Primers
  • DNA Repair / genetics*
  • Fetus
  • Fungal Proteins / genetics*
  • Gene Library
  • Genes, Bacterial
  • Genes, Fungal
  • Genetic Predisposition to Disease
  • Humans
  • In Situ Hybridization, Fluorescence
  • Molecular Sequence Data
  • Multigene Family*
  • MutL Proteins
  • Neoplasm Proteins*
  • Neoplasms / genetics
  • Polymerase Chain Reaction
  • Saccharomyces cerevisiae / genetics*
  • Saccharomyces cerevisiae Proteins*
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid


  • Carrier Proteins
  • DNA Primers
  • Fungal Proteins
  • Neoplasm Proteins
  • PMS1 protein, S cerevisiae
  • PMS1 protein, human
  • Saccharomyces cerevisiae Proteins
  • DNA
  • MutL Proteins

Associated data

  • GENBANK/D38435
  • GENBANK/D38436
  • GENBANK/D38437
  • GENBANK/D38438
  • GENBANK/D38439
  • GENBANK/D38440