Genomic organization of the human PMS2 gene family

Genomics. 1995 Nov 20;30(2):195-206. doi: 10.1006/geno.1995.9885.


The hPMS2 gene (HGMW-approved symbol PMS2) encodes a mutL homolog that causes hereditary non-polyposis colon cancer (HNPCC) when inherited in mutant form. We have here characterized the genomic structure of the hPMS2 gene to facilitate its analysis in HNPCC kindreds. The hPMS2 genomic locus was found to encompass 16 kb and consist of 15 exons. During its analysis, we identified a family of hPMS2-related genes located on chromosome 7 at bands 7p12-p13, 7q11, and 7q22. Exons 1 through 5 of these homologs shared a high degree of identity with hPMS2. We present the sequence of seven novel genes that represent the hPMSR (hPMS2-related) gene family. The similarity and number of these genes made specific amplification of hPMS2 problematic, but knowledge of them aided the successful design of oligonucleotides for this purpose.

Publication types

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

MeSH terms

  • Adenosine Triphosphatases*
  • Amino Acid Sequence
  • Base Sequence
  • Cloning, Molecular
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Primers
  • DNA Repair
  • DNA Repair Enzymes*
  • DNA, Complementary
  • DNA-Binding Proteins*
  • Exons
  • Humans
  • Introns
  • Mismatch Repair Endonuclease PMS2
  • Molecular Sequence Data
  • Multigene Family*
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid


  • DNA Primers
  • DNA, Complementary
  • DNA-Binding Proteins
  • Proteins
  • Adenosine Triphosphatases
  • PMS2 protein, human
  • Mismatch Repair Endonuclease PMS2
  • DNA Repair Enzymes

Associated data

  • GENBANK/U38964
  • GENBANK/U38979
  • GENBANK/U38980