The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer - PubMed (original) (raw)
Comparative Study
. 1993 Dec 3;75(5):1027-38.
doi: 10.1016/0092-8674(93)90546-3.
Affiliations
- PMID: 8252616
- DOI: 10.1016/0092-8674(93)90546-3
Comparative Study
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
R Fishel et al. Cell. 1993.
Erratum in
- The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R. Fishel R, et al. Cell. 1994 Apr 8;77(1):1 p following 166. Cell. 1994. PMID: 8156592 No abstract available.
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.
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