Human MSH2 protein

Chemistry: natural resins or derivatives; peptides or proteins; – Proteins – i.e. – more than 100 amino acid residues

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530358, C07K 14435, A61K 3816

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active

055918263

ABSTRACT:
The human MSH2 gene, responsible for hereditary non-polyposis colorectal cancer, was identified by virtue of its homology to the MutS class of genes, which are involved in DNA mismatch repair. The sequence of cDNA clones of the human gene are provided, and the sequence of the gene can be used to demonstrate the existence of germ line mutations in hereditary non-polyposis colorectal cancer (HNPCC) kindreds, as well as in replication error.sup.+ (RER.sup.+) tumor cells.

REFERENCES:
patent: 5075217 (1991-12-01), Weber
Richard Fishel, et al., The Human Mutator Gene Homolog MS H2 and its Association with Hereditary Nonpolyposis Colon Cancer, Cell, vol. 75, 1027-1038, Dec. 3, 1993.
Scc-1, a novel colon cancer susceptibility gene in the mouse: linkage to CD44 (Ly-24, Pgp-1) on chromosone 2, Corina J. A. Moen, et al., Oncogene (1992), 7, 563-566, Macmillan Press Ltd. 1992.
Strand et al., "Destabilization of Tracts of Simple Repetitive DNA in Yeast by Mutations Affecting DNA Mismatch Repair", Nature, 365:274-276 (1993).
Kunkel, "Slippery DNA and Diseases", Nature, 365:207-208 (1993).
Parsons, et al., "Hypermutability and Mismatch Repair Deficiency in RER.sup.+ Tumor Cells", Cell, 75:1227-1236 (1993).
P aivi Peltom aki, et al., Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer, Science, vol. 260, 7 May 1993 pp. 810-812.
Lauri A. Aaltonen, et al., Clues to the Pathogenesis of Familial Colorectal Cancer, Science, vol. 260, 7 May 1993, pp. 812-816.
S. N. Thibodeau, et al., Microsatellite Instability in Cancer of the Proximal Colon, Science, vol. 260, 7 May 1993, 816-819.
Rick Weise, Gene for Colon Cancer Identified, Scientists Foresee Simple Blood Test for Hereditary Forms of Disease, Washington Post, Dec. 3, 1993.

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