Mutator genes and mosaicism in colorectal cancer

Current Opinion in Genetics and Development

Volumn 6, Issue 1, 1996, Pages 76-81

  Dunlop, Malcolm G ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BASE MISPAIRING; CANCER GENETICS; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; DNA REPAIR; HUMAN; MOSAICISM; MUTATION RATE; MUTATOR GENE; NONHUMAN; PRIORITY JOURNAL; SHORT SURVEY; TRANSGENIC ANIMAL;

ANIMALIA;

EID: 0030027071     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(96)90014-3     Document Type: Article

References (13)

1. Lynch HT, Smryk TC, Watson P, Lanspa SJ, Lynch JF, Lynch PM, Cavalieri RJ, Boland CR: Genetics, natural history, tumour spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology 1993, 104:1535-1549.
2. Vasen HFA, Mecklin J-P, Khan PM, Lynch HT: The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991, 34:424-425.
3. Rayssiguier C, Thaler DS, Radman M: The barrier to recombination between Escherichia coli and Salmonella typhimurium is disrupted in mismatch-repair mutants. Nature 1989, 342:396-401.
4. Grilley M, Holmes J, Yashar B, Modrich P: Mechanisms of DNA-mismatch correction. Mutat Res 1990, 26:253-267.
5. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993, 75:1027-1038.
6. Leach FS, Nicolaides NC, Papadopolous N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M et al.: Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer. Cell 1993, 75:1215-1225.
7. Drummond J, Li G-M, Longley M, Paul Modrich: Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumour cells. Science 1995, 268:1909-1912.
8. It is shown that HMSH2 and GTBP/p160 act as a heterodimer in mismatch recognition in vivo. The degree of heterogeneity of mutator phenotype depends upon the gene involved.
9. Palombo F, Gallinari P, Iaccarino I, Lettieri T, Hughes M, D'Arrigo A, Truong O, Hsuan JJ, Jiricny J: GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 1995, 268:1912-1914.
10. A dimer comprising hMSH2 and GTBP/p160 is identified as the active form in mismatch recognition in vivo.
11. Papadopoulos N, Nicolaides N, Liu B, Parsons R, Lengauer C, Palombo F, D'Arrigo A, Markowitz S, Wilson JK, Kinzler KW et al.: Mutations of GTBP in genetically unstable cells. Science 1995, 1915-1917.
12. Phenotypte HNPCC families do not appear to carry the GTBP/p160 mutations. Specific sequences are identified that are targets of DNA slippage but are not repaired by mismatch repair when GTBP is inactivated. These repeats tend to be mononucleotide runs.
13. Hughes MJ, Jiricny J: The identification of a human mismatch-binding protein and identification of its associated ATPase and helicase activities. J Biol Chem 1992, 267:23876-23882.