Please use this identifier to cite or link to this item: http://lib.jncasr.ac.in:8080/jspui/handle/10572/573
Title: The Human Mutator Gene Homolog MSHP and Its Association with Hereditary Nonpolyposis Colon Cancer
Authors: Fishel, Richard
Lescoe, Mary Kay
Rao, M R S
Copeland, Neal G
Jenkins, Nancy A
Garber, Judy
Kane, Michael
Kolodner, Richard
Keywords: amino acid
base sequence
dna binding proteins
fungal proteins
fungal proteins genetics
humans
molecular sequence data
muts homolog 2 protein
sequence alignment
sequence homology
Issue Date: Dec-1993
Publisher: Cell Press
Citation: Cell 75(5), 1027-1038 (1993)
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.
Description: Restricted Access
URI: http://hdl.handle.net/10572/573
Other Identifiers: 0092-8674
Appears in Collections:Research Papers (M.R.S. Rao)

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