Genomic organization of the human PMS2 gene family

Nicholas C. Nicolaides, Kenneth C. Carter, Brenda K. Shell, Nickolas Papadopoulos, Bert Vogelstein, Kenneth W. Kinzler

Research output: Contribution to journalArticlepeer-review

102 Scopus citations


ThehPMS2gene (HGMW-approved symbolPMS2) encodes amutLhomolog that causes hereditary nonpolyposis colon cancer (HNPCC) when inherited in mutant form. We have here characterized the genomic structure of thehPMS2gene to facilitate its analysis in HNPCC kindreds. ThehPMS2genomic locus was found to encompass 16 kb and consist of 15 exons. During its analysis, we identified a family ofhPMS2-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 withhPMS2.We present the sequence of seven novel genes that represent thehPMSR(hPMS2-related) gene family. The similarity and number of these genes made specific amplification ofhPMS2problematic, but knowledge of them aided the successful design of oligonucleotides for this purpose.

Original languageEnglish (US)
Pages (from-to)195-206
Number of pages12
Issue number2
StatePublished - Nov 1995

ASJC Scopus subject areas

  • Genetics


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