GENOMIC ORGANIZATION OF THE HUMAN PMS2 GENE FAMILY

The hPMS2 gene (HGMW-approved symbol PMS2) encodes a mutL homolog that causes hereditary nonpolyposis 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 gen omic locus was found to encompass 16 kb and consist of 15 exons. Durin g 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 o f these homologs shared a high degree of identity with hPMS2. We prese nt the sequence of seven novel genes that represent the hPMSR (hPMS2-r elated) gene family, The similarity and number of these genes made spe cific amplification of hPMS2 problematic, but knowledge of them aided the successful design of oligonucleotides for this purpose. (C) 1995 A cademic Press, Inc.