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The Human Mutator Gene Homolog MSHP and Its Association with Hereditary Nonpolyposis Colon Cancer

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dc.contributor.author Fishel, Richard
dc.contributor.author Lescoe, Mary Kay
dc.contributor.author Rao, M R S
dc.contributor.author Copeland, Neal G
dc.contributor.author Jenkins, Nancy A
dc.contributor.author Garber, Judy
dc.contributor.author Kane, Michael
dc.contributor.author Kolodner, Richard
dc.date.accessioned 2012-03-07T05:44:07Z
dc.date.available 2012-03-07T05:44:07Z
dc.date.issued 1993-12
dc.identifier 0092-8674 en_US
dc.identifier.citation Cell 75(5), 1027-1038 (1993) en_US
dc.identifier.uri https://libjncir.jncasr.ac.in/xmlui/10572/573
dc.description Restricted Access en_US
dc.description.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 2~22-21 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. en_US
dc.description.uri http://dx.doi.org/10.1016/0092-8674(93)90546-3 en_US
dc.language.iso en en_US
dc.publisher Cell Press en_US
dc.rights © 1993 Cell Press en_US
dc.subject amino acid en_US
dc.subject base sequence en_US
dc.subject dna binding proteins en_US
dc.subject fungal proteins en_US
dc.subject fungal proteins genetics en_US
dc.subject humans en_US
dc.subject molecular sequence data en_US
dc.subject muts homolog 2 protein en_US
dc.subject sequence alignment en_US
dc.subject sequence homology en_US
dc.title The Human Mutator Gene Homolog MSHP and Its Association with Hereditary Nonpolyposis Colon Cancer en_US
dc.type Article en_US


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