Mutation spectrum of MSH3-deficient HHUA/chr.2 cells reflects in vivo activity of the MSH3 gene product in mismatch repair

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 447, Issue 2, 2000, Pages 155-164

  Tauchi, Hiroshi ^a   Komatsu, Kenshi ^a   Ishizaki, Kanji ^b   Yatagai, Fumio ^d   Kato, Takesi ^c  

^a Res Inst Nucl Med Biol   (Japan)

^b AICHI CANCER CENTER HOSPITAL   (Japan)

^c OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^d NONE

Author keywords

HHUA chr.2 cell; Mismatch repair; MSH3 gene

Indexed keywords

GENE PRODUCT; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; NUCLEIC ACID BASE;

ARTICLE; BASE MISPAIRING; CHROMOSOME 2; COLORECTAL CANCER; DNA REPAIR; FRAMESHIFT MUTATION; GENE LOCUS; HUMAN; HUMAN CELL; MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; ANIMALS; BASE PAIR MISMATCH; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 2; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA-BINDING PROTEINS; FRAMESHIFT MUTATION; HUMANS; HYBRID CELLS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTAGENESIS, INSERTIONAL; MUTATION; POINT MUTATION; SEQUENCE DELETION; TUMOR CELLS, CULTURED;

EID: 0034646035     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(99)00199-2     Document Type: Article

References (45)

1. Fishel R., Lescoe M.K., Rao M.R.S., Copeland N.G., Jenkins N.A., Garber J., Kane M., Kolodner R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 75:1993;1027-1038.
2. + tumor cells. Cell. 75:1993;1227-1236.
3. Leach F.S., Nicolaides N.C., Papadopoulos N., Liu B., Jen J., Parsons R., Peltomaki P., Sistonen P., Aaltonen L.A., Nystrom-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.-P., Jarvinen H., Petersen G.M., Hamilton S.R., Green J., Jass J., Watson P., Lynch H.T., Trent J.M., de la Chapelle A., Kinzler K.W., Vogelstein B. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 75:1993;1215-1225.
4. Modrich P. Mechanisms and biological effects of mismatch repair. Annu. Rev. Genet. 25:1991;229-253.
5. Modrich P., Lahue R. Mismatch repair in replication fidelity, genetic recombination and cancer biology. Annu. Rev. Biochem. 65:1996;101-133.
6. Kolodner R. Biochemistry and genetics of eukaryotic mismatch repair. Gene Dev. 10:1996;1433-1442.
7. Drummond J.T., Li G.-M., Longley M.J., Modrich P. Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. Science. 268:1995;1909-1912.
8. Palombo F., Gallinari P., Iaccarino I., Lettieri T., Hughes M., D'Arrigo A., Truong O., Hsuan J.J., Jiricny J. GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science. 268:1995;1912-1914.
9. Acharya S., Wilson T., Gradia S., Kane M.F., Guerrette S., Marsischky G.T., Kolodner R., Fishel R. hMSH2 forms specific mispair-binding complexes with hMSH2 and hMSH6. Proc. Natl. Acad. Sci. U.S.A. 93:1996;13629-13634.
10. Palombo F., Iaccarino I., Nakajima E., Ikejima M., Shimada T., Jiricny J. hMutSβ, a heterodimer of hMSH2 and hMSH3, binds to insertion/deletion loops in DNA. Curr. Biol. 6:1996;1181-1184.
11. Habraken Y., Sung P., Prakash L., Prakash S. Binding of insertion/deletion DNA mismatches by the heterodimer of yeast mismatch repair proteins MSH2 and MSH3. Curr. Biol. 6:1996;1185-1187.
12. Li G.-M., Modrich P. Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. Proc. Natl. Acad. Sci. U.S.A. 92:1995;1950-1954.
13. Speicher M.R. Microsatellite instability in human cancer. Oncol. Res. 7:1995;267-275.
14. Boland C.R. Role of the DNA mismatch repair genes in colorectal tumorigenesis. Int. J. Cancer. 69:1996;47-49.
15. Bhattacharyya N.P., Skandalis A., Ganesh A., Groden J., Meuth M. Mutator phenotypes in human colorectal carcinoma cell lines. Proc. Natl. Acad. Sci. U.S.A. 91:1994;6319-6363.
16. 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. Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer. Oncogene. 10:1995;33-37.
17. Branch P., Hampson R., Karran P. DNA mismatch binding defects, DNA damage tolerance and mutator phenotypes in human colorectal carcinoma cell lines. Cancer Res. 55:1995;2304-2309.
18. Bhattacharyya N.P., Ganesh A., Phear G., Richards B., Skandalis A., Meuth M. Molecular analysis of mutations in mutator colorectal carcinoma cell lines. Hum. Mol. Genet. 4:1995;2057-2064.
19. Malkhosyan S., McCarty A., Sawai H., Perucho M. Differences in the spectrum of spontaneous mutations in the hprt gene between tumor cells of the microsatellite mutator phenotype. Mutat. Res. 316:1996;249-259.
20. Andrew S.E., Reitmair A.H., Fox J., Hsiao L., Francis A., McKinnon M., Mak T.W., Jirik F.R. Base transitions dominate the mutational spectrum of a transgenic reporter gene in MSH2-deficient mice. Oncogene. 15:1997;123-129.
21. Narayanan L., Fritzell J.A., Baker S.M., Liskay R.M., Glazer P.M. Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2. Proc. Natl. Acad. Sci. U.S.A. 94:1997;3122-3127.
22. Prolla T.A., Baker S.M., Harris A.C., Tsao J.-L., Yao X., Bronner C.E., Zheng B., Gordon M., Reneker J., Arnheim N., Shibata D., Bradley A., Liskay R.M. Tumor susceptibility and spontaneous mutation in mice deficient in Mlhl, Pms1 and Pms2 DNA mismatch repair. Nat. Genet. 18:1998;276-279.
23. Ohzeki S., Tachibana A., Tatsumi K., Kato T. Spectra of spontaneous mutations at the hprt locus in colorectal carcinoma cell lines defective in mismatch repair. Carcinogenesis. 18:1997;1127-1133.
24. Kato T., Yatagai F., Glickman B.W., Tachibana A., Ikenaga M. Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-A. Mutat. Res. 422:1998;279-283.
25. Akiyama Y., Tubouchi N., Yuasa Y. Frequent somatic mutations of hMSH3 with reference to microastellite instability in hereditary nonpolyposis colorectal cancers. Biochem. Biophys. Res. Commun. 236:1997;248-252.
26. Risinger J.I., Umar A., Boyd J., Berchuck A., Kunkel T.A., Barrett J.C. Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. Nat. Genet. 14:1996;102-105.
27. Bennett S.E., Umar A., Oshima J., Monnat R.J. Jr., Kunkel T.A. Mismatch repair in extracts of Werner syndrome cell lines. Cancer Res. 57:1997;2956-2960.
28. Risinger J.I., Umar A., Glaab W.E., Tindall K.R., Kunkel T.A., Barrett J.C. Single gene complementation of the hPMS2 defect in HEC-1-A endometrial carcinoma cells. Cancer Res. 58:1998;2978-2981.
29. Koi M., Umar A., Chauhan D.P., Cherian S.P., Carethers J.M., Kunkel T.A., Boland C.R. Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-methyl-N′-nitro-N-nitrosoguanidine tolerance in colon tumor cells with homozygous hMLH1 mutation. Cancer Res. 54:1994;4308-4312.
30. Umar A., Risinger J.I., Glaab W.E., Tindall K.R., Barrett J.C., Kunkel T.A. Functional overlap in mismatch repair by human MSH3 and MSH6. Genetics. 148:1998;1637-1646.
31. Umar A., Koi M., Risinger J.I., Glaab W.E., Tindall K.R., Kolodner R.D., Boland C.R., Barrett J.C., Kunkel T.A. Correction of hypermutability, N-methyl-N′-nitro-N-nitrosoguanidine resistance, and defective DNA mismatch repair by introducing chromosome 2 into human tumor cells with mutations in MSH2 and MSH6. Cancer Res. 57:1997;3949-3955.
32. Komatsu K., Kodama S., Okumura Y., Koi M., Oshimura M. Restoration of radiation resistance in ataxia telangiectasis cells by the introduction of normal human chromosome 11. Mutat. Res. 235:1990;59-63.
33. Matsuura S., Weemaes C., Smeets D., Takami H., Kondo N., Sakamoto S., Yano Y., Nakamura A., Tauchi H., Endo S., Oshimura M., Komatsu K. Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24. Am. J. Hum. Genet. 60:1997;1487-1494.
34. Thomas D.C., Umar A. Methods. Friedberg E.C. A Companion to Methods in Enzymology. 7:1995;187-197 Academic Press, New York.
35. Osterholm A.M., Hou S.M. Splicing mutations at the HPRT locus in human T-lymphocytes in vivo. Environ. Mol. Mutagen. 32:1998;25-32.
36. Glaab W.E., Tindall K.R. Mutation rate at the locus in human cancer cell lines with specific mismatch repair-gene defects. Carcinogenesis. 18:1997;1-8.
37. Shibata D., Peinado M.A., Ionov Y., Malkhosyan S., Perucho M. Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nat. Genet. 6:1994;273-281.
38. Drummond J.T., Genschel J., Wolf E., Modrich P. DHFR/MSH3 amplification in methotrexate-resistant cells alters the hMutSα/hMutSβ ratio and reduces the efficiency of base-base mismatch repair. Proc. Natl. Acad. Sci. U.S.A. 94:1997;10144-10149.
39. Genschel J., Littman S.J., Drummond J.T., Modrich P. Isolation of MutSβ from human cells and comparison of the mismatch repair specificities of MutSβ and MutSα J. Biol. Chem. 273:1998;19895-19901.
40. Marsischky G.T., Filosi N., Kane M.F., Kolodner R. Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repair. Gene Dev. 10:1996;407-420.
41. Marra G., Iaccarino I., Lettieri T., Roscilli G., Delmastro P., Jiricny J. Mismatch repair deficiency associated with overexpression of the MSH3 gene. Proc. Natl. Acad. Sci. U.S.A. 95:1998;8568-8573.
42. Glaab W.E., Risinger J.I., Umar A., Kunkel T.A., Barrett J.C., Tindall K.R. Characterization of distinct human endometrial carcinoma cell lines deficient in mismatch repair that originated from a single tumor. J. Biol. Chem. 273:1998;26662-26669.
43. de Costa L.T., Liu B., El Deiry W., Hamilton S.R., Kinzler K.W., Vogelstein B., Markowiz S., Willson J.K.V., de la Chapelle A., Downey K.M., So A.G. Polymerase δ variants in RER colorectal tumors. Nat. Genet. 9:1995;10-11.
44. Simon M., Giot L., Faye G. The 3′ to 5′ exonuclease activity located in the DNA polymerase δ subunit of Saccharomyces cerevisiae is required for accurate replication. EMBO J. 10:1991;2165-2170.
45. Hinz J.M., Meuth M. MSH3 deficiency is not sufficient for a mutator phenotype in Chinese hamster ovary cells. Carcinogenesis. 20:1999;215-220.