Molecular analysis of mutations in mutator colorectal carcinoma cell lines

Human Molecular Genetics

Volumn 4, Issue 11, 1995, Pages 2057-2064

  Bhattacharyya, Nitai P ^a,c   Ganesh, Anil ^a,b   Phear, Geraldine ^a,b   Richards, Burt ^a,b   Skandalis, Adonis ^a,b   Meuth, Mark ^a,b  

^a UNIVERSITY OF UTAH   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c SAHA INSTITUTE OF NUCLEAR PHYSICS   (India)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; SATELLITE DNA;

ARTICLE; BASE MISPAIRING; CANCER CELL CULTURE; CANCER GENETICS; COLORECTAL CARCINOMA; CONTROLLED STUDY; DNA REPAIR; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC STABILITY; HUMAN; HUMAN CELL; MUTATION RATE; MUTATOR GENE; PRIORITY JOURNAL;

BASE SEQUENCE; COLORECTAL NEOPLASMS; DNA, NEOPLASM; DNA, SATELLITE; HUMAN; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MOLECULAR SEQUENCE DATA; MUTATION; SUPPORT, U.S. GOV'T, P.H.S.; TUMOR CELLS, CULTURED;

EID: 0028847412     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.11.2057     Document Type: Article

References (41)

1. Fishel R., Lescoe M. K., Rao M. R. S., Copeland N. G., Jenkins N. A., Garber J., Kane M., Kolodner R. (1993) The human mutation gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75, 1027-1038.
2. Leach F. S., Nicolaides N. C., Papadopoulos N., Liu B., Jen J., Parsons R., Peltomaki P, Sistonen R, Aaltonen L. A., Nystrôm-Lahti M., Guan X-Y., Zhang J., Meltzer P. S., Yu J-W., Kao F-T., Chen D. J., Cerosaletti K.M., Fournier R.E. K., Todd S., Lewis T, Leach R.J., Naylor S.L., Weissenbach J., Mecklin J.-R., Jarvinen H., Petersen G. M., Hamilton S.R., Green J., Jass J., Watson R., Lynch H.T., Trent J.M., de la Chapelle A., Kinzler K.W., Vogelstein B. (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell, 75, 1215-1225.
3. Bronner C. E., Baker S. M., Morrison P. T., Warren G., Smith L. G., Lescoe M. K., Kane M., Earabino C., Lipford J., Lindblom A., Tannergard R, Bollag R.J., Godwin A.R., Ward D.C., Nordenskjold M., Fishel R., Kolodner R., Liskay R.M. (1994) Mutation in the DNA mismatch repair gene homologue hMLHl is associated with hereditary non-polyposis colon cancer. Nature, 368, 258-261.
4. Papadopoulos N., Nicolaides N. C., Wei Y.-F., Ruben S. M., Carter K. C., Rosen C. A., Haseltine W. A., Fleischmann R. D., Fraser C. M., Adams M. D., Venter J. C., Hamilton S. R., Petersen G. M., Watson R, Lynch H. T., Peltomaki P, Mecklin J-R, de la Chapelle A., Kinzler K. W., Vogelstein B.(1994) Mutation of a mutL homolog in hereditary colon cancer. Science, 263, 1625-1629.
5. Drummond, J. T., Li, G-M., Longley, M. J., Modrich, P. (1995) Isolation of an hMSH2-pl60 heterodimer that restores mismatch repair to tumor cells. Science268, 1909-1912.
6. Palombo, F., Gallinari, P, Iaccarino, I. Lettieri, T. Hughes, M., D’Arrigo, A., Truong, O., Hsuan, J. J., Jiricny, J. (1995) GTBP, a 160-kilodalton protein essential for mismatch-binding actitvity in human cells. Science, 268, 1912-1914.
7. Papadopoulos, N., Nicolaides, N. C., Liu, B. Parsons, R., Lengauer, C., Palombo, F., D’Arrigo, A., Markowitz, S., Willson, J. K. V. Kinzler, K. W., Jiricny, J., Vogelstein, B. (1995) Mutations of GTBP in genetically unstable cells. Science, 268, 1915-1917.
8. Parsons R., Li G-M., Longley M., Modrich P, Liu B., Berk T., Hamilton S. R., Kinzler K. W., Vogelstein B. (1995) Mismatch repair deficiency in phenotypically normal human cells. Science, 268, 738-740.
9. Shibata D., Peinado M. A., Ionov Y, Malkhosyan S., Perucho M. (1994)Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nature Genet., 6, 273-281.
10. Liu B., Nicolaides N. C., Markowitz S., Willson J. K. V, Parsons R. E., Jen J., Papadopolous N., Peltomaki P, de la Chapelle A., Hamilton S. R., Kinzler K. W., Vogelstein B. (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet., 9, 48-55.
11. Parsons R., Li G.-M., Longley M. J., Fang W-H., Papadopoulos N., Jen J., de la Chapelle A., Kinzler K. W., Vogelstein B., Modrich P. (1993)Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell, IS, 1227-1236.
12. Umar A., Boyer J. C., Thomas D. C., Nguyen D. C., Risinger J. L, Boyd J., Ionov Y, Perucho M., Kunkel T. A. (1994) Defective mismatch repair in extracts of colorectal and endometrial cancer cell lines exhibiting microsatellite instabiltiy. J. Biol. Chem., 269, 14367-14370.
13. Bhattacharyya N. P., Skandalis A., Ganesh A., Groden J., Meuth M. (1994) Mutator phenotypes in human colorectal carcinoma cell lines. Proc. Natl Acad. Sci. USA, 91, 6319-6323.
14. Eshleman J. R., Lang E. Z., Bowerfind G. K., Parsons R., Vogelstein B., Willson J. K. V., Veigl M. L., Sedwick W. D., Markowitz S. D. (1995)Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer. Oncogene, 10, 33-37.
15. Wooster R., Cleton-Jansen A-M., Collins N., Mangion J., Comelis R. S., Cooper C. S., Gusterson B. A., Ponder B. A. J., von Deimling A., Wiestler O. D., Comelisse C. J., Devilee R, Stratton M. R. (1994)Instability of short tandem repeats (microsatellites) in human cancers. Nature Genet., 6, 152-156.
16. Strickler J. G., Zheng J., Shu Q., Burgart L. J., Alberts S. R., Shibata D. (1994) p53 mutations and microsatellite instability in sporadic gastric cancer: when guardians fail. Cancer Res, 54, 4750-4755.
17. Merlo A., Mabry M., Gabrielson E., Vollmer R., Baylin S. B., Sidransky D. (1994) Frequent microsatellite instability in primary small cell lung cancer. Cancer Res., 54, 2098-2101.
18. Chong J-M., Fukayama M., Hayashi Y., Takizawa T., Koike M., Konishi M., Kikuchi-Yanashita R., Miyaki M. (1994) Microsatellite instability in the progression of gastric carcinoma. Cancer Res., 54, 4595-4597.
19. da Costa L. T., Liu B., El-Deiry W. S., Hamilton S.R., Kinzler K.W., Vogelstein B., Markowitz S., Willson J.K.V., de la Chapelle A., Downey K.M., So A. G. (1995) Polymerase 8 variants in RER colorectal tumours. Nature Genet., 9, 10-11.
20. Kat A., Thilly W. G., Fang W-H., Longley M. J., Li G-M„ Modrich P. (1993) An alkylation-tolerant, mutator human cell line is deficient in strand-specific mismatch repair. Proc. Natl Acad. Sci. USA, 90, 6424-6428.
21. Steingrimsdottir H., Rowley G., Dorado G., Cole J., Lehmann A. R. (1992) Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyl transferase gene. Nucleic Acids Res., 20, 1201-1208.
22. Monnat R. J. Jr., Hackmann A. F. M., Chiaverotti T. A. (1992) Nucleotide sequence analysis of Human Hypoxanthine Phosphoribosyltransferase (HPRT) gene deletions. Genomics, 13, 777-787.
23. Edwards A., Voss H., Rice R, Civitello A., Stegemann J., Schwager C., Zimmermann J., Erfle H., Caskey C. T., Ansorge W. (1990) Automated DNA sequencing of the human HPRT locus. Genomics, 6, 593-608.
24. Fukuchi K-L, Martin G. M., Monnat R. J. (1989) Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc. Natl Acad. Sci. USA, 86, 5893-5897.
25. de Wind, N., Dekker, M., Bems, A., Radman, M., te Riele, H. (1995) Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, predisposition to cancer. Cell, 82, 321-330.
26. Reenan R. A. G., Kolodner R. D. (1992) Characterization of insertion mutations in the saccharomyces cerevisiae MSHI and MSH2 genes: evidence for separate mitochondrial and nuclear functions. Genetics, 132, 975-985.
27. Selva E. M., New L., Crouse G. F., Lahue R. S. (1995) Mismatch repair as a barrier to homeologous recombination in Saccharomyces cerevisiae. Genetics, 139, 1175-1188.
28. Hemminki A., Peltomaki P., Mecklin J-R, Jarvinen H., Salovaara R., Nystrom-Lahti M., de la Chapelle A., Aaltonen L. A. (1994) Loss of the wild type MLHI gene is a feature of hereditary nonpolyposis colorectal cancer. Nature Genet., 8, 405-410.
29. McGregor W. G., Maher V. M., McCormick J. J. (1991) Kinds and locations of mutations arising spontaneously in the coding region of the HPRT gene of finite-life-span diploid human fibroblasts. Somat. Cell Mol. Genet., 17, 169-463.
30. Giver C. R., Neson S. L., Grosovsky A. J. (1993) Spectrum of spontaneous HPRT~ mutations in TK6 human lymphoblasts. Environ. Mol. Mutagen., 22, 138-146.
31. Schaaper R. M., Dunn R. L. (1987) Spectra of spontaneous mutation in Escherichia coli strains defective in mismatch correction: the nature of in vivo DNA replication errors. Proc. Nall Acad. Sci. USA, 84, 6220-6224.
32. Schaaper R. M. (1988) Mechanisms of mutagenesis in the Escherichia coli mutatormutDS: Role of DNA mismatch repair. Proc. Natl Acad. Sci. USA, 85, 8126-8130.
33. Lazar V., Grandjouan S., Bognel C., Couturier D., Rougier R, Belief D., Bressac-de Paillerets B. (1994) Accumulation of multiple mutations in tumor suppressor genes during tumorigenesis in HNPCC patients. Hum. Mol. Genet., 3, 2257-2260.
34. Markowitz S., Wang J., Myeroff L., Parsons R., Sun L., Lutterbaugh J., Vogelstein B., Brattain M., Willson J. K. V. (1995) Inactivation of the type II TGF-p receptor in colon cancer cells with microsatellite instability. Science, 268, 1336-1338.
35. Capizzi R. L., Jameson J. W. (1973) A table for the estimation of the spontaneous mutation rate of cells in culture. Mutat. Res., 17, 147-148.
36. Williamson R., Bowcock A., Kidd K., Pearson P., Schmidtke J., Ceverha P., Chipperfield M., Cooper D. N., Coutelle C., Hewitt J., Klinger K., Langley K., Beckmann J., Tolley M., Maidak B. (1991) Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms. Cytogenet. Cell Genet., 58, 1190-1832.
37. Kimpton C., Walton A., Gill P. (1992) A further tetranucleotide repeat polymorphism in the vWF gene. Hum. Mol. Genet., 1, 287.
38. Polymeropoulos M. H., Rath D. S., Xiao H„ Merril C. R. (1991)Trinucleotide repeat polymorphism at the human transcription factor 1ID gene. Nucleic Acids Res., 19, 4307.
39. Fougerousse F., Meloni R., Roudaut C., Beckmann J. S. (1992) Dinucleotide repeat polymorphism at the human hemoglobin alpha-1 pseudo-gene (HBAP1). Nucleic Acids Res., 20, 1165.
40. Harwood J., Tachibana A., Meuth M. (1991) Multiple dispersed spontaneous mutations: a novel pathway of mutation in a malignant human cell line. Mol. Cell. Biol., 11, 3163-3170.
41. Rossiter B., Grompe M., Caskey C. T. (1991) Detection of deletions and point mutations. In: M. J. McPherson, P. Quirke and G. R. Taylor (eds), PCR a practical approach.Oxford University Press: Oxford.