Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae

Nature Genetics

Volumn 19, Issue 4, 1998, Pages 384-389

  Shimodaira, Hideki ^a   Filosi, Nicole ^b   Shibata, Hiroyuki ^a   Suzuki, Takao ^a   Radice, Paolo ^c   Kanamaru, Ryunosuke ^a   Friend, Stephen H ^d   Kolodner, Richard D ^b,e   Ishioka, Chikashi ^a  

^a TOHOKU UNIVERSITY   (Japan)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c Division of Experimental Oncology   (Italy)

^d USA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER SUSCEPTIBILITY; COLON CARCINOGENESIS; COLORECTAL CANCER; MISSENSE MUTATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE;

CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; GENES, DOMINANT; GENETIC VECTORS; HUMANS; MUTAGENESIS; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; SACCHAROMYCES CEREVISIAE; VARIATION (GENETICS);

SACCHAROMYCES CEREVISIAE;

EID: 0031824671     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/1277     Document Type: Article

References (20)

1. Lynch, H.T., Smyrk, T. & Lynch, J.F. Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch Syndrome). Int. J. Cancer 69, 38-43 (1996).
2. Liu, B. et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nature Med. 2, 169-174 (1996).
3. Peltomaki, P. et al. Mutations predisposing to hereditary nonpoplyposis colorectal cancer: Database and results of a collaborative study. Gastroenterology 113, 1146-1158 (1997).
4. Papadopoulos, N. et al. Mutation of a mutL homolog in hereditary colon cancer. Science 263, 1625-1629 (1994).
5. Liu, B. et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res. 54, 4590-4594 (1994).
6. Ishioka, C. et al. Detection of heterozygous truncating mutations in the BRCA1 and APC genes by using a rapid screening assay in yeast. Proc. Natl Acad. Sci. USA 94, 2449-2453 (1997).
7. Kolodner, R. Biochemistry and genetics of eukaryotic mismatch repair. Genes Dev. 10, 1433-1442 (1996).
8. Henderson, S.T. & Petes, T.D. Instability of a plasmid-borne inverted repeat in Saccharomyces cerevisiae. Genetics 134, 57-62 (1993).
9. Strand, M., Prolla, T.A., Liskay, R.M. & Petes, T.D. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365, 274-276 (1993).
10. Sia, E.A., Kokoska, R.J., Dominska, M., Greenwell, P. & Petes, T.D. Microsatellite Instability in yeast: dependence on repeat unit size and DNA mismatch repair genes. Mol. Cell. Biol. 17, 2851-2858 (1997).
11. Ishioka, C. et al. Screening patients for heterozygous p53 mutations using a functional assay in yeast. Nature Genet. 5, 124-129 (1993).
12. Pensotti, V. et al. Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes. Genes Chromosomes Cancer 19, 135-142 (1997).
13. Marsischky, G.T., Filosi, N., Kane, M.F. & Kolodner, R. Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repair. Genes Dev. 10, 407-420 (1996).
14. Reenan, R.A. & Kolodner, R.D. Characterization of insertion mutations in the Saccharomyces cerevisiae MSH1 and MSH2 genes: evidence for separate mitochondrial and nuclear functions. Genetics 132, 975-985 (1992).
15. Lea, D.E. & Coulson, C.A. The distribution of the number of mutants in bacterial populations. J. Genet. 49, 264-285 (1949).
16. Christianson, T.W., Sikorski, R.S., Dante, M., Shero, J.H. & Hieter, P. Multifunctional yeast high-copy-number shuttle vectors. Gene 110, 119-122 (1992).
17. Sarkar, G. & Sommer, S.S. The "megaprimer" method of site-directed mutagenesis. Biotechniques 8, 404-407 (1990).
18. Bronner, C.E. et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368, 258-261 (1994).
19. Vasen, H.F. et al. The international collaborative group on hereditary nonpolyposis colorectal cancer (ICG-HNPCC). Dis. Colon Rectum 34, 424-425 (1991).
20. Viel, A. et al. Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. Genes Chromosomes Cancer 18, 8-18 (1997).