Genomic organization of the human PMS2 gene family

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 foun...

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Published inGenomics (San Diego, Calif.) Vol. 30; no. 2; pp. 195 - 206
Main Authors NICOLAIDES, N. C, CARTER, K. C, SHELL, B. K, PAPADOPOULOS, N, VOGELSTEIN, B, KINZLER, K. W
Format Journal Article
LanguageEnglish
Published San Diego, CA Elsevier 20.11.1995
Subjects
Adenosine Triphosphatases
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Cloning, Molecular
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
DNA Primers
DNA Repair
DNA Repair Enzymes
DNA, Complementary
DNA-Binding Proteins
Exons
Fundamental and applied biological sciences. Psychology
Genes. Genome
Humans
Introns
Mismatch Repair Endonuclease PMS2
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Multigene Family
Polymerase Chain Reaction
Proteins - genetics
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
Genetic mapping
Human
Nucleotide sequence
Homology
Gene organization
Chromosome C7
Genetic disease
Base mismatching
DNA
Risk factor
Predisposition
Digestive diseases
Intestinal disease
Chromosome DNA
Multigene family
Tumor
Colon
Repair
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Summary: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.
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ISSN:0888-7543
1089-8646
DOI:10.1006/geno.1995.9885