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dc.contributor.authorFishel, Richard-
dc.contributor.authorLescoe, Mary Kay-
dc.contributor.authorRao, M R S-
dc.contributor.authorCopeland, Neal G-
dc.contributor.authorJenkins, Nancy A-
dc.contributor.authorGarber, Judy-
dc.contributor.authorKane, Michael-
dc.contributor.authorKolodner, Richard-
dc.identifier.citationCell 75(5), 1027-1038 (1993)en_US
dc.descriptionRestricted Accessen_US
dc.description.abstractWe 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.publisherCell Pressen_US
dc.rights© 1993 Cell Pressen_US
dc.subjectamino aciden_US
dc.subjectbase sequenceen_US
dc.subjectdna binding proteinsen_US
dc.subjectfungal proteinsen_US
dc.subjectfungal proteins geneticsen_US
dc.subjectmolecular sequence dataen_US
dc.subjectmuts homolog 2 proteinen_US
dc.subjectsequence alignmenten_US
dc.subjectsequence homologyen_US
dc.titleThe Human Mutator Gene Homolog MSHP and Its Association with Hereditary Nonpolyposis Colon Canceren_US
Appears in Collections:Research Papers (M.R.S. Rao)

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