14
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.

      Cell
      Amino Acid Sequence, Animals, Base Sequence, Chromosomes, Human, Pair 2, Cloning, Molecular, Colonic Neoplasms, genetics, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Primers, chemistry, DNA Repair, DNA, Complementary, DNA-Binding Proteins, Female, Genes, Genetic Linkage, Humans, Male, Mice, Molecular Sequence Data, MutS Homolog 2 Protein, Mutation, Proto-Oncogene Proteins, RNA Splicing, Sequence Alignment, Sequence Homology, Amino Acid

      Read this article at

      ScienceOpenPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          We have identified a human homolog of the bacterial MutS and S. cerevisiae MSH proteins, called hMSH2. Expression of hMSH2 in E. coli causes a dominant mutator phenotype, suggesting that hMSH2, like other divergent MutS homologs, interferes with the normal bacterial mismatch repair pathway. hMSH2 maps to human chromosome 2p22-21 near a locus implicated in hereditary nonpolyposis colon cancer (HNPCC). A T to C transition mutation has been detected in the -6 position of a splice acceptor site in sporadic colon tumors and in affected individuals of two small HNPCC kindreds. These data and reports indicating that S. cerevisiae msh2 mutations cause an instability of dinucleotide repeats like those associated with HNPCC suggest that hMSH2 is the HNPCC gene.

          Related collections

          Author and article information

          Comments

          Comment on this article