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Genetics of DNA Mismatch Repair, Microsatellite Instability, and Cancer

  • Chapter
DNA Damage and Repair

Part of the book series: Contemporary Cancer Research ((CCR))

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Abstract

In both prokaryotes and eukaryotes mismatched or unpaired bases in a DNA duplex can arise spontaneously through errors in DNA replication, genetic recombination, and deamination of 5-methylcytosine to thymine (T). Errors generated during the process of DNA replication can be thought of as a highly “primitive” type of DNA damage. Systems designed to minimize the production of errors, or to correct mismatches, are likely to have evolved very early in order to assure the fidelity of genetic transmission. Paradoxically, such repair systems cannot result in error-free DNA synthesis, since the constant generation of mutant alleles is a requirement for variation and evolution. In a changing environment, increased spontaneous mutation rates can confer benefits to a bacterial population (38). In fact, the discovery of bacterial mutants that have reduced spontaneous mutation rates (antimutators) suggests that optimum mutation rates have evolved (31,32). Two biological processes, DNA polymerase proofreading and DNA mismatch repair (DMR), are known to affect spontaneous mutation rates dramatically in both prokaryotes and eukaryotes (83,98).

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References

  1. Aaltonen, L. A., P. Peltomaki, F. Leach, P. Sistonen, S. M. Pylkkanen, J.-P. Mecklin, H. Jarvinen, S. Powell, J. Jen, S. R. Hamilton, G. M. Petersen, K. W. Kinzler, B. Vogelstein, and A. de la Chapelle. 1993. Clues to the pathogenesis of familial colorectal cancer. Science 260: 812–816.

    PubMed  CAS  Google Scholar 

  2. Alani, E., N.-W. Chi, and R. Kolodner. 1995. The Saccharomyces cerevisiae Msh2 protein specifically binds to duplex oligonucleotides containing mismatched DNA base pairs and insertions. Genes Dev. 9: 234–247.

    PubMed  CAS  Google Scholar 

  3. Alani, E., N.-W. Chi, and R. D. Kolodner. 1995. The Saccharomyces cerevisiae MSh2 protein specifically binds to duplex oligonucleotides containing mismatched DNA base pairs and insertions. Genes Dev. 9: 234–247.

    PubMed  CAS  Google Scholar 

  4. Ames, B. N. and L. S. Gold. 1990. Too many rodent carcinogens: mitogenesis increases mutagenesis. Science 249: 970, 971.

    Google Scholar 

  5. Ames, B. N., R. Magaw, and L. S. Gold. 1987. Ranking possible carcinogenic hazards. Science 236: 271–279.

    PubMed  CAS  Google Scholar 

  6. Armitage, P. and R. Doll. 1954. The age distribution of cancer and a multi-stage theory of carcinogenesis. Br. J. Cancer 8: 1–12.

    PubMed  CAS  Google Scholar 

  7. Baker, S., A. Plug, T. Prolla, C. Bronner, A. Harris, X. Yao, D.-M. Christie, C. Monell, N. Arnheim, A. Bradley, T. Ashley, and R. Liskay. 1996. Involvement of Mlhl in DNA mismatch repair and meiotic crossing over. Nature Genet. 13: 336–342.

    PubMed  CAS  Google Scholar 

  8. Baker, S. M., C. E. Bronner, L. Zhang, A.W. Plug, M. Robatzek, G. Warren, E. A. Elliot, J. Wu, T. Ashley, N. Amheim, and R. M. Liskay. 1995. Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis and meiosis. Cell 82: 309–319.

    PubMed  CAS  Google Scholar 

  9. Baker, S. M., C. E. Bronner, and R. M. Liskay. Unpublished observations.

    Google Scholar 

  10. Bedi, G. C., W. H. Westra, H. Farazdegan, P. M. Pitha, and D. Sidransky. 1995. Microsatellite instability in primary neoplasms from HIV+ patients. Nature Med. 1: 65–68.

    PubMed  CAS  Google Scholar 

  11. Bhattacharyya, N. P., A. Skandalis, A. Ganesh, J. Groden, and M. Meuth. 1994. Mutator phenotype in human colorectal carcinoma cell lines. Proc. Natl. Acad. Sci. USA 91: 6319–6323.

    PubMed  CAS  Google Scholar 

  12. Bicknell, D. C., A. Rowan, and W. F. Bodmer. 1994. ß2M-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumor. Proc. Natl. Acad. Sci. USA 91: 4751–4755.

    PubMed  CAS  Google Scholar 

  13. Bradley, A., P. Hasty, A. Davis, and R. Ramirez-Solis. 1992. Modifying the mouse: design and desire. BioTechnology 10: 534–539.

    PubMed  CAS  Google Scholar 

  14. Branch, B., D. C. Bicknell, A. Rowan, W. F. Bodmer, and P. Karran. 1995. Immune surveilance in colorectal carcinoma. Nature Genet. 9: 231, 232.

    Google Scholar 

  15. Bronner, C. E., S. M. Baker, P. T. Morrison, G. Warren, L. G. Smith, M. K. Lescoe, M. Kane, C. Earabino, J. Lipford, A. Lindblom, P. Tannergard, R. J. Bollag, A. R. Godwin, D. C. Ward, M. Nordenskjold, R. Fishel, R. Kolodner, and R. M. Liskay. 1994. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature 368: 258–261.

    PubMed  CAS  Google Scholar 

  16. Burks, R. T., T. D. Kessis, K. R. Cho, and L. Hedrick. 1994. Microsatellite instability in endometrial carcinoma. Oncogene 9: 1163–1166.

    PubMed  CAS  Google Scholar 

  17. Cavenee, W. B., H. J. Scrable, and C. D. James. 1991. Molecular genetics of human cancer predisposition and progression. Mutation Research 247: 199–202.

    PubMed  CAS  Google Scholar 

  18. Chong, J.-M., M. Fukayama, Y. Hayashi, T. Takizawa, M. Koike, M. Konishi, R. KikuchiYanoshita, and M. Miyaki. 1994. Microsatellite instability in the progression of gastric carcinoma. Cancer Res. 54: 4595–4597.

    PubMed  CAS  Google Scholar 

  19. Cohen, P. R. and S. R. Kohn. 1991. Association of sebaceous gland tumors and internal malignancy: the Muir-Tone syndrome. Am. J. Med. 90: 606–613.

    PubMed  CAS  Google Scholar 

  20. Cooper, D. L., R. S. Lahue, and P. Modrich. 1993. Methyl-directed Mismatch Repair Is Bidirectional. J. Biol. Chem. 268: 11823–11829.

    PubMed  CAS  Google Scholar 

  21. Counts, J. L. and J. I. Goodman. 1995. Alterations in DNA methylation may play a variety of roles in carcinogenesis. Cell 83: 13–15.

    PubMed  CAS  Google Scholar 

  22. Dams, E, E. J. Van de Kelft, J. J. Martin, J. Verlooy, and P. J. Willems. 1995. Instability of microsatellites in human gliomas. Cancer Res. 55: 1547–1549.

    PubMed  CAS  Google Scholar 

  23. de Wind, N., M. Dekker, A. Bern, M. Radman, and H. to Reile. 1995. Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyper-recombination, and predisposition to cancer. Cell 82: 321–330.

    PubMed  Google Scholar 

  24. Dhillon, N. and M. F. Hoekstra. 1994. Characterization of two protein kinases from Schizosaccaromyces pombe involved in the regulation of DNA repair. EMBO J. 2777–2788.

    Google Scholar 

  25. Dietrich, W., H. Katz, S. E. Lincoln, H.-S. Shin, J. Friedman, N. Dracopoli, and E. S. Lander. 1992. A genetic map of the mouse suitable for typing intraspecific crosses. Genetics 131: 423–447.

    PubMed  CAS  Google Scholar 

  26. Drummond, J. T., G.-M. Li, M. J. Longley, and P. Modrich. 1995. Isolation of an hMSH2p 160 heterodimer that restores DNA mismatch repair to tumor cells. Science 268: 1909–1912.

    PubMed  CAS  Google Scholar 

  27. Duggan, B. D., J. C. Felix, L. I. Muderspach, D. Tourgeman, J. Zheng, and D. Shibata. 1994. Microsatellite instability in sporadic endometrial carcinoma. J. Natl. Cancer. Inst. 86: 1216–1221.

    Google Scholar 

  28. Edelman, W., P. Cohen, M. Kane, K. Lau, B. Morrow, S. Bennet, A. Umar, T. Kunkel, G. Cattoretti, R. Chaganti, J. Pollard, R. Kolodner, and R. Kucherlapati. 1996. Meiotic pachytene arrest in MLH1–deficient mice. Cell 85: 1125–1134.

    Google Scholar 

  29. Eshleman, J. R. and S. D. Markowitz. 1995. Microsatellite instability in inherited and sporadic neoplasms. Curr. Opinion Oncol. 7: 83–89.

    CAS  Google Scholar 

  30. Fearon, E. R. and B. Vogelstein. 1990. A genetic model for colorectal tumorigenesis. Cell 61: 759–767.

    PubMed  CAS  Google Scholar 

  31. Fijalkowska, I. J., R. L. Dunn, and R. M. Schaaper. 1993. Antimutator mutations in the alpha subunit of Escherichia coli DNA polymerase III: identification of the responsible mutations and alignment with other DNA polymerases. Genetics 134: 1039–1044.

    PubMed  CAS  Google Scholar 

  32. Fijalkowska, I. J., R. L. Dunn, and R. M. Schaaper. 1993. Mutants in Escherichia coli with increased fidelity of DNA replication. Genetics 134: 23–30.

    Google Scholar 

  33. Fishel, R. A., M. K. Lescoe, M. R. S. Rao, N. Copeland, N. Jenkins, J. Garber, M. Kane, and R. Kolodner. 1993. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75: 1027–1038.

    PubMed  CAS  Google Scholar 

  34. Fogel, S., R. K. Mortimer, and K. Lusnak. 1981. Mechanisms of meiotic gene conversion, or “wanderings on a foreign strand,” in The Molecular Biology of the Yeast Saccharomyces: Life Cycle and Inheritance (Strathern, J. N., ed.), Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, p. 289.

    Google Scholar 

  35. Fong, K. W., P. V. Zimmerman, and P. J. Smith. 1995. Microsatellite instability and other molecular abnormatilies in non-small cell lung cancer. Cancer Res. 55: 28–30.

    PubMed  CAS  Google Scholar 

  36. Fujiwara, Y. 1975. Postreplication repair of alkylation damage to DNA of mammalian cells in culture. Cancer Res. 35: 2780–2789.

    PubMed  CAS  Google Scholar 

  37. Gao, X., N. Wu, D. Grignon, A. Zacharek, A. Liu, A. Salkowski, G. Li, W. Sakr, F. Sarkar, A. T. Porter, Y. Q. Chen, and K. V. Honn. 1994. High frequency of mutator phenotype in human prostatic adenocarcinoma. Oncogene 9: 2999–3003.

    PubMed  CAS  Google Scholar 

  38. Gibson, T. C., M. L. Scheppe, and E. C. Cox. 1970. Fitness of an Escherichia coli mutator gene. Science 169: 686–688.

    PubMed  CAS  Google Scholar 

  39. Giovannucci, E., M. J. Stampfer, G. A. Colditz, E. B. Rimm, D. Trichopoulos, B. A. Rosner, F. E. Speizer, and W. C. Willet. 1993. Folate, methionine, and alcohol intake and risk of colorectal adenoma. J. Natl. Cancer Inst. 85: 875–884.

    PubMed  CAS  Google Scholar 

  40. Giovannuci, E. and W. C. Willet. 1994. Dietary factors and risk of colon cancer. Ann. Rev. Med. 26: 443–452.

    Google Scholar 

  41. Goldmacher, V. S., R. A. Cuzick, and W. G. Thilly. 1986. Isolation and partial characterization of human cell mutants differing in sensitivity to killing and mutation by methylnitrosourea and N-methyl-N’-nitro-N-nitrosoguanidine. J. Biol. Chem. 261: 12,462–12, 469.

    Google Scholar 

  42. Graham, R., P. McKee, D. McGibbon, and E. Heyderman. 1985. Torre-Muir syndrome. Cancer 55: 2868–2873.

    PubMed  CAS  Google Scholar 

  43. Grilley, M., J. Holmes, B. Yashar, and P. Modrich. 1990. Mechanisms of DNA-mismatch correction. Mutat. Res. 236: 253–267.

    PubMed  CAS  Google Scholar 

  44. Grilley, M., K. M. Welsh, S.-S. Su, and P. Modrich. 1989. Isolation and characterization of the Escherichia coli mutL gene product. J. Biol. Chem. 264: 1000–1004.

    PubMed  CAS  Google Scholar 

  45. Groden, J., A. Thliveris, W. Samowitz, M. Carlson, L. Gelbert, H. Albertsen, G. Joslyn, J. Stevens, L. Spirio, M. Robertson, L. Sargeant, K. Krapcho, E. Wolff, R. Burt, J. P. Hughes, J. Warrington, J. McPherson, J. Wasmuth, D. Le Paslier, H. Abderrahim, D. Cohen, M. Leppert, and R. White. 1991. Identification and characterization of the Familial Adenomatous Polyposis Coli gene. Cell 66: 589–600.

    PubMed  CAS  Google Scholar 

  46. Hamada, H. and T. Kakunaga. 1982. Potential Z-DNA forming sequences are highly dispersed in the human genome. Nature 396–398.

    Google Scholar 

  47. Hamilton, S. R., B. Liu, R. E. Parsons, N. Papadopoulos, J. Jen, S. M. Powell, A. J. Krush, T. Berk, Z. Cohen, B. Tetu, P. C. Burger, P. A. Wood, F. Taqi, S. V. Booker, G. M. Petersen, J. A. Offerhaus, A. C. Tersmette, F. M. Giardiello, B. Vogelstein, and K. Kinzler. 1995. The molecular basis of Turcot’s syndrome. N. Engl. J. Med. 332: 839–847.

    PubMed  CAS  Google Scholar 

  48. Han, H., A. Yanagisawa, Y. Kato, J. Park, and Y. Nakamura. 1993. Genetic instability in pancreatic cancer and poorly differentiated type of gastric cancer. Cancer Res. 53: 50875089.

    Google Scholar 

  49. Harvey, M., M. J. McArthur, C. A. Montgomery, Jr., J. S. Butel, A. Bradley, and L. A. Donehower. 1993. Spontaneous and carcinogen-induced tumorigenesis in p53–deficient mice. Nature Genet. 5: 225–229.

    PubMed  CAS  Google Scholar 

  50. Hawn, M. T., A. Umar, J. M. Carethers, G. Marra, T. A. Kunkel, C. R. Boland, and M. Koi. 1995. Evidence for a connection between the mismatch repair system and the G2 cell cycle checkpoint. Cancer Res. 55: 3721–3725.

    PubMed  CAS  Google Scholar 

  51. Hemminki, A., P. Peltomaki, J.-P. Mecklin, H. Jarvinen, R. Salovaara, M. Nystrom-Lahti, A. de la Chapelle, and L. A. Aaltonen. 1994. Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nature Genet. 8: 405–410.

    PubMed  CAS  Google Scholar 

  52. Hickson, I. D., H. M. Arthur, D. Bramhill, and P. T. Emmerson. 1983. The E. coli uvrD gene product is DNA helicase II. Mol. Gen. Genet. 190: 265–270.

    Google Scholar 

  53. Hoekstra, M. F., R. M. Liskay, A. C. Ou, A. J. DeMaggio, D. G. Burbee, and F. Hiffron. 1991. HRR25, a putative protein kinase from budding yeast: association with repair of damaged DNA. Science 253: 1031–1034.

    CAS  Google Scholar 

  54. Hollingsworth, N. M., L. Ponte, and C. Halsey. 1995. MSH5, a novel MutS homolog, facilitates meiotic reciprocal recombination between homologs in Saccharomyces cerevisiae but not mismatch repair. Genes Dev. 9: 1728–1739.

    PubMed  CAS  Google Scholar 

  55. Honchel, R., K. C. Hailing, D. J. Schaid, M. Pittelkow, and S. N. Thibodeau. 1994. Microsatellite instability in Muir-Torre syndrome. Cancer Res. 54: 1159–1163.

    PubMed  CAS  Google Scholar 

  56. Hughes, M. J. and J. Jiricny. 1992. The purification of a human mismatch-binding protein and identification of its associated ATPase and helicase activities. J. Biol. Chem. 267: 23,876–23, 882.

    Google Scholar 

  57. lonov, Y., M. A. Peinado, S. Malkbosyan, D. Shibata, and M. Perucho. 1993. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 260: 558–561.

    Google Scholar 

  58. Jiang-Cheng, W. M. Rideout, III, and P. A. Jones. 1992. High frequency mutagenesis by a DNA methyltransferase. Cell 71: 1073–1080.

    Google Scholar 

  59. Jones, M. and R. Wagner. 1981. N-methyl-N-nitro-N-nitrosoguanidine sensitivity ofE. coli mutants deficient in DNA methylation and mismatch repair. Mol. Gen. Genet. 184: 562, 563.

    Google Scholar 

  60. Karran, P. and M. G. Marinus. 1982. Mismatch correction of O6–methylguanine residues in E. coli DNA. Nature 296: 868, 869.

    Google Scholar 

  61. Kinzler, K. W., M. C. Nilbert, L.-K. Su, B. Vogelstein, T. M. Bryan, D. B. Levy, K. J. Smith, A. C. Preisinger, P. Hedge, D. McKechnie, R. Finniear, A. Markham, J. Groffen, M. S. Boguski, S. F. Altschul, A. Horii, H. Ando, Y. Miyoshi, Y. Miki, I. Nishisho, and Y. Nakamura. 1991. Identification of FAP locus genes from chromosome 5821. Science 253: 661–665.

    PubMed  CAS  Google Scholar 

  62. Kitraki, E., E. Bozas, H. Philippidis, and F. Stylianopoulou. 1993. Aging-related changes in IGF-II and c fos gene expression in the rat brain. Intl. J. Dev. Neurosci. 11: 1–9.

    CAS  Google Scholar 

  63. Koi, M., A. Umar, D. P. Chauhan, S. P. Cherian, J. M. Carethers, T. A. Kunkel, and C. R. Boland. 1994. Human chromosome 3 corrects mismatch repair deficiency and micro-satellite instability and reduces N-methyl-N’-nitro-N-nitrosoguanidine tolerance in colon tumor cells with homozygous hMLHJ mutation. Cancer Res. 54: 4308–4312.

    PubMed  CAS  Google Scholar 

  64. Mersischky, G. T., M. F. Kane, and R. Kolodner. 1996. Redundancy of Saccharomyces cerevisiae MSH6 and MSH3 in MSH2–dependent mismatch repair. Genes Dev. 10: 407–420.

    Google Scholar 

  65. Kolodner, R. D., N. R. Hall, J. Lipford, M. F. Kane, M. R. S. Rao, P. Morrison, L. Wirth, P. J. Finan, J. Burn, P. Chapman, C. Earabino, E. Merchant, and D. T. Bishop. 1994. Structure of the human MSH2 locus and analysis of two Muir-Tone kindreds for msh2 mutations. Genomics 24: 516–526.

    Google Scholar 

  66. Kramer, W., B. Kramer, M. S. Williamson, and S. Fogel. 1989. Cloning and nucleotide sequence of DNA mismatch repair gene PMSJ from Saccharomyces cerevisiae: homology of PMS 1 to procaryotic MutL and HexB. J. Bacteriol. 171: 5339–5346.

    PubMed  CAS  Google Scholar 

  67. Kunkel, T. A., S. S. Patel, and K. A. Johnson. 1994. Error-prone replication of repeated DNA sequences by T7 DNA polymerase in the absence of its processivity subunit. Proc. Natl. Acad. Sci. USA 91: 6830–6834.

    PubMed  CAS  Google Scholar 

  68. Lahue, R. S., K. G. Au, and P. Modrich. 1989. DNA mismatch correction in a defined system. Science 245: 160–164.

    PubMed  CAS  Google Scholar 

  69. Laird, P. NV., L. Jackson-Grusby, A. Fazeli, S. L. Dickinson, W. E. Jung, E. Li, R. A. Weinberg, and R. Jaenisch. 1995. Suppression of intestinal neoplasia by DNA hypomethylation. Cell 81: 197–205.

    PubMed  CAS  Google Scholar 

  70. Laird, P. W. and R. Jaenisch. 1994. DNA methylation and cancer. Hum. Mol. Genet. 3: 1487–1495.

    PubMed  CAS  Google Scholar 

  71. Längle-Rouault, F., M. G. Maenhaut, and M. Radman. 1987. GATC sequences, DNA nicks and the MutH function in Escherichia coli mismatch repair. EMBO J. 6: 1121–1127.

    PubMed  Google Scholar 

  72. Lawler, S., A. F. Candia, R. Ebner, L. Shum, A. R. Lopez, H. L. Moses, C. V. E. Wright, and R. Derynck. 1994. The murine type II TGF-ß receptor has a coincident embryonic expression and binding preference for TGF-131. Development 120: 165–175.

    PubMed  CAS  Google Scholar 

  73. Lazar, V., S. Grandjouan, C. Bognel, D. Couturier, P. Rougier, D. Bellet, and B. B. Pallerets. 1994. Accumulation of multiple mutations in tumor suppressor genes during colorectal tumorigenesis in HNPCC patients. Hum. Mol. Genet. 3: 2257–2260.

    PubMed  CAS  Google Scholar 

  74. Leach, F. S., N. C. Nicolaides, N. Papadopoulos, B. Liu, J. Jen, R. Parsons, P. Peltomaki, P. Sistonen, L. A. Aaltonen, M. Nystrom-Lahti, X.-Y. Guan, J. Zhang, P. S. Meltzer, J.-W. Yu, F.-T. Kao, D. J. Chen, K. M. Cerosaletti, R. E. K. Fournier, S. Todd, T. Lewis, R. J. Leach, S. L. Naylor, J. Weissenbach, J.-P. Mecklin, H. Jarvinen, G. M. Petersen, S. R. Hamilton, J. Green, J. Jass, P. Watson, H. T. Lynch, J. M. Trent, A. de la Chapelle, K. W. Kinzler, and B. Vogelstein. 1993. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75: 1215–1225.

    Google Scholar 

  75. Levinson, G. and G. A. Gutman. 1987. High frequencies of short frameshifts in poly-CA/ TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12. Nucleic Acids Res. 15: 5313–5338.

    Google Scholar 

  76. Li, G.-M. and P. Modrich. 1995. Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologs. Proc. Natl. Acad. Sci. USA 92: 1950–1954.

    PubMed  CAS  Google Scholar 

  77. Liberfarb, R. M. and V. Bryson. 1970. Isolation, characterization and genetic analysis of mutator genes in Escherichia coli B and K12. J. Bacteriol. 104: 363–375.

    PubMed  CAS  Google Scholar 

  78. Lin, J.-T., M.-S. Wu, C.-T. Shun, W.-J. Lee, J.-C. Sheu, and T.-H. Wang. 1995. Ocurrence of microsatellite instability in gastric carcinoma is associated with enhanced expression of erbB-2 oncoprotein. Cancer Res.1428–1430.

    Google Scholar 

  79. Liu, B., N. C. Nicolaides, S. Markowitz, J. K. V. Willson, R. E. Parsons, J. Jen, N. Papdopolous, P. Peltomaki, A. de la Chapelle, S. R. Hamilton, K. W. Kinzler, and B. Vogelstein. 1995. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet. 9: 48–55.

    PubMed  CAS  Google Scholar 

  80. Loathe, R. A. 1993. Genomic instability in colorectal cancer: Relationship to clinicopathological variables and family history. Cancer Res. 53: 5849–5852.

    Google Scholar 

  81. Loeb, L. A. 1991. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res. 51: 3075–3079.

    PubMed  CAS  Google Scholar 

  82. Loeb, L. A. 1994. Microsatellite instability: marker of a mutator phenotype in cancer. Cancer Res. 54: 5059–5063.

    PubMed  CAS  Google Scholar 

  83. Loeb, L. A. and K. C. Cheng. 1990. Errors in DNA synthesis: a source of spontaneous mutations. Mutat. Res. 238: 297–304.

    PubMed  CAS  Google Scholar 

  84. Loeb, L. A., C. F. Springgate, and N. Battula. 1974. Errors in DNA replication as a basis of malignant changes. Cancer Res. 34: 2311–2321.

    PubMed  CAS  Google Scholar 

  85. Lothe, R. A., P. Peltomaki, G. I. Meling, L. A. Aaltonen, M. Nystrom-Lahti, L. Pylkkanen, K. Heimdal, T. I. Andersen, P. Moller, T. O. Rognum, S. D. Fossa, T. Haldorsen, F. Langmark, A. Brogger, A. de la Chapelle, and A.-L. Borresen. 1993. Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res. 53: 5849–5852.

    PubMed  CAS  Google Scholar 

  86. Lu, A.-L., S. Clark, and P. Modrich. 1983. Methyl-directed repair of DNA base pair mismatches in vitro. Proc. Natl. Acad. Sci. USA 80: 4639–4643.

    PubMed  CAS  Google Scholar 

  87. Lynch, H. T. and A. J. Krush. 1971. Cancer family “G” revisited: 1895–1970. Cancer 27: 1505–1511.

    PubMed  CAS  Google Scholar 

  88. Lynch, H. T., T. Smyrk, P. Watson, S. J. Lanspa, B. M. Boman, P. M. Lynch, J. F. Lynch, and J. Cavalieri. 1991. Hereditary colorectal cancer. Semin. Oncol. 18: 337–366.

    PubMed  CAS  Google Scholar 

  89. Lynch, H. T., T. C. Smyrk, P. Watson, S. J. Lanspa, J. F. Lynch, P. M. Lynch, R. J. Cavalieri, and C. R. Boland. 1993. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology 104: 1535–1549.

    PubMed  CAS  Google Scholar 

  90. Lyons, S. M. and P. F. Schendel. 1984. Kinetics of methylation in Escherichia coli K-12. J. Bacteriol. 159: 421–423.

    PubMed  CAS  Google Scholar 

  91. Marinus, M. G. and N. R. Morris. 1975. Pleiotropic effects of a DNA adenine methylation mutation (dam-3) in Escherichia coli K12. Mutat. Res. 28: 15–26.

    PubMed  CAS  Google Scholar 

  92. Markowitz, S., J. Wang, L. Myeroff, R. Parsons, L. Sun, J. Lutterbaugh, R. S. Fan, E. Zborowska, K. W. Kinzler, V. B., M. Brattain, and J. K. V. Willson. 1995. Inactivation of the type II TGF-ß receptor in colon cancer cells with microsatellite instability. Science 268: 1336–1338.

    CAS  Google Scholar 

  93. Mays-Hoopes, L. L. 1985. DNA methylation: A possible correlation between aging and cancer. p. 49–65. in R. S. Sohal, L. S. Birnbaum and R. G. Cutler (ed.), Molecular Biology of Aging, vol. 29. Raven, New York.

    Google Scholar 

  94. Merlo, A., M. Mabry, E. Gabrielson, R. Vollmer, S. B. Baylin, and D. Sidransky. 1994. Frequent microsatellite instability in primary small cell lung cancer. Cancer Res. 54: 2098–2101.

    PubMed  CAS  Google Scholar 

  95. Mikol, Y. B., K. L. Hoover, D. Creasia, and L. A. Porier. 1983. Hepatocarcinogenesis in rats fed methyl-deficient, amino acid-defined diets. Carcinogenesis 4: 1619–1629.

    PubMed  CAS  Google Scholar 

  96. Miret, J. J., M. Milla, and R. S. Lahue. 1993. Characterization of a DNA mismatch binding activity in yeast extracts. J. Biol. Chem. 268: 3507–3513.

    PubMed  CAS  Google Scholar 

  97. Miyamura, Y., H. Ohtsu, O. Niwa, A. Kurishita, H. Watanabe, T. Sado, and T. Ono. 1993. Comparison of the age-and tumor-associated changes in the c-myc gene methylation in mouse liver. Gerontology 39(Suppl.) 1: 3–10.

    Google Scholar 

  98. Modrich, P. 1991. Mechanisms and biological effects of mismatch repair. Ann. Rev. Genet. 25: 229–253.

    PubMed  CAS  Google Scholar 

  99. Moolgavakar, S. H. and A. G. Knudson. 1981. Mutation and cancer: a model for human carcinogenesis. J. Natl. Cancer Inst. 66: 1037–1051.

    Google Scholar 

  100. New, L., K. Liu, and G. F. Crouse. 1993. The yeast gene MSH3 defines a new class of eukaryotic MutS homologues. Mol. Gen. Genet. 239: 97–108.

    PubMed  CAS  Google Scholar 

  101. Nicolaides, N. C., K. C. Carter, B. K. Shell, N. Papadopoulos, B. Vogelstein, and K. W. Kinzler. 1995. Genomic organization of the hPMS2 gene family. Genomics 30: 195–206.

    PubMed  CAS  Google Scholar 

  102. Nicolaides, N. C., N. Papadopoulos, B. Liu, Y.-F. Wei, K. C. Carter, S. M. Ruben, C. A. Rosen, W. A. Haseltine, R. D. Fleischmann, C. M. Fraser, M. D. Adams, J. C. Venter, M. G. Dunlop, S. R. Hamilton, G. M. Petersen, A. de la Chapelle, B. Vogelstein, and K. W. Kinzler. 1994. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371: 75–80.

    PubMed  CAS  Google Scholar 

  103. Nishisho, I., Y. Nakamura, Y. Miyoshi, Y. Miki, H. Ando, and A. Horii. 1991. Mutations of chromosome 5g21 genes in FAP and and colorectal cancer patients. Science 253: 665–669.

    PubMed  CAS  Google Scholar 

  104. Nowell, P. C. 1976. The clonal evolution of tumor cell populations. Science 194: 23.

    PubMed  CAS  Google Scholar 

  105. Ono, T., S. Yamamoto, A. Kurishita, K. Yamomoto, Y. Yamamoto, Y. Ujeno, K. Sagisaka, Y. Fukui, M. Miyamoto, and R. E. A. Tawa. 1990. Comparison of age associated changes of c-myc gene methylation in liver between man and mouse. Mutat. Res. 237: 239–246.

    PubMed  CAS  Google Scholar 

  106. Palombo, F., P. Gallinari, I. Iaccarino, T. Lettier, M. Hughes, A. D’Arrigo, O. Truong, J. J. Hsuan, and J. Jiricny. 1995. GTBP, a 160–Kilodalton protein essential for mismatch-binding activity in human cells. Science 268: 1912–1914.

    PubMed  CAS  Google Scholar 

  107. Papadopoulos, N., N. C. Nicolaides, B. liu, R. Parsons, C. Lengauer, F. Palombo, A. D’Arrigo, S. Markowitz, J. K. V. Willson, K. W. Kinzler, J. Jiricny, and B. Vogelstein. 1995. Mutations of GTBP in genetically unstable cells. Science 1915–1917.

    Google Scholar 

  108. Papadopoulos, N., N. C. Nicolaides, Y.-F. Wei, S. M. Ruben, K. C. Carter, C. A. Rosen, W. A. Haseltine, R. D. Fleischmann, C. M. Fraser, M. D. Adams, J. C. Venter, S. R. Hamilton, G. M. Petersen, P. Watson, H. T. Lynch, P. Peltomaki, J.-P. Mecklin, A. de la Chapelle, K. W. Kinzler, and B. Vogelstein. 1994. Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625–1629.

    PubMed  CAS  Google Scholar 

  109. Parker, B. O. and M. G. Marinus. 1992. Repair of DNA heteroduplexes containing small heterologous sequences in Escherichia coli. Proc. Natl. Acad. Sci. USA 89: 1730–1734.

    CAS  Google Scholar 

  110. Parsons, R., G.-M. Li, M. Longley, P. Modrich, B. Liu, T. Berk, S. R. Hamilton, K. W. Kinzler, and B. Vogelstein. 1995. Mismatch repair deficiency in phenotypically normal human cells. Science 268: 738–740.

    PubMed  CAS  Google Scholar 

  111. Parsons, R., G.-M. Li, M. J. Longley, W.-H. Fang, N. Papadopoulos, J. Jen, A. de la Chapelle, K. W. Kinzler, B. Vogelstein, and P. Modrich. 1993. Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75: 1227–1236.

    PubMed  CAS  Google Scholar 

  112. Peltomaki, P., R. A. Lothe, L. A. Aaltonen, L. Pylkkanen, M. Nystrom-Lahti, R. Seruca, L. David, R. Holm, D. Ryberg, A. Haugen, A. Brogger, A.-L. Borresen, and A. de la Chapelle. 1993. Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res. 53: 5853–5855.

    Google Scholar 

  113. Prolla, T., D.-M. Christie, and R. M. Liskay. 1994. Dual requirement in yeast DNA mismatch repair for MLH1 and PMS1, two homologs of the bacterial mutL gene. Mol. Cell. Biol. 14: 407–415.

    PubMed  CAS  Google Scholar 

  114. Prolla, T. A., Q. Pang, E. Alani, R. D. Kolodner, and R. M. Liskay. 1994. Interactions between the MSH2, MLH I and PMS1 proteins during the initiation of DNA mismatch repair. Science 265: 1091–1093.

    PubMed  CAS  Google Scholar 

  115. Pukkila, P. J., J. Peterson, G. Herman, P. Modrich, and M. Meselson. 1983. Effects of high levels of DNA adenine methylation on methyl-directed mismatch repair in Escherichia coli. Genetics 104: 571–582.

    Google Scholar 

  116. Reenan, R. A. G. and R. D. Kolodner. 1992. Characterization of insertion mutations in the Saccharomyces cerevisiae MSHJ and MSH2 genes: evidence for separate mitochondrial and nuclear functions. Genetics 132: 975–985.

    PubMed  CAS  Google Scholar 

  117. Reenan, R. A. G. and R. D. Kolodner. 1992. Isolation and characterization of two Saccharomyces cerevisiae genes encoding homologs of the bacterial HexA and MutS mismatch repair proteins. Genetics 132: 963–973.

    PubMed  CAS  Google Scholar 

  118. Reitmair, A. H., R. Schmits, A. Ewel, B. Bapat, M. Redston, A. Mitri, P. Waterhouse, H.-W. Mittrucker, A. Wakeham, B. Liu, A. Thomason, H. Griesser, S. Gallinger, W. G. Ballhausen, R. Fishel, and T. W. Mak. 1995. MSH2 deficient mice are viable and susceptible to lymphoid tumors. Nature Genet. 11: 64–70.

    Google Scholar 

  119. Rhyu, M. G., W. S. Park, and S. J. Meltzer. 1994. Microsatellite instability occurs frequently in human gastric carcinoma. Oncogene 9: 29–32.

    PubMed  CAS  Google Scholar 

  120. Risinger, J. I., A. Berchuck, M. F. Kohler, P. Watson, H. T. Lynch, and J. Boyd. 1993. Genetic instability of microsatellites in endometrial carcinoma. Cancer Res. 53: 5100–5103.

    PubMed  CAS  Google Scholar 

  121. Ritland, S. R., V. Ganju, and R. B. Jenkins. 1995. Region-specific loss of heterozigosity on chromosome 19 is related to the morphologic type of human glioma. Genes, Chromosomes and Cancer 12: 277–282.

    CAS  Google Scholar 

  122. Ross-Macdonald, P. and G. S. Roeder. 1994. Mutation of a meiosis-specific MutS homolog decreases crossing over but not mismatch correction. Cell 79: 1069–1080.

    PubMed  CAS  Google Scholar 

  123. Sancar, A. and J. E. Hearst. 1993. Molecular matchmakers. Science 259: 1415–1420.

    Google Scholar 

  124. Schwartz, R. A., D. J. Goldberg, F. Mahmood, R. L. DeJager, W. C. Lambert, A. Z. Najem, and P. J. Cohen. 1989. The Muir-Torre syndrome: a disease of sebaceous and colonic neoplasms. Dermatologica 178: 23–28.

    PubMed  CAS  Google Scholar 

  125. Shivapurkar, N., M. J. Wilson, K. L. Hoover, Y. B. Mikol, D. Creasia, and L. A. Poirier. 1986. Hepatic DNA methylation and liver tumor formation in male C3H mice fed methionine-and choline-deficient diets. J. Natl. Cancer Inst. 77: 213–217.

    PubMed  CAS  Google Scholar 

  126. Shridhar, V., J. Siegfried, J. Hunt, M. del Mar Alonso, and D. I. Smith. 1994. Genetic instability of microsatellite sequences in many non-small cell lung carcinomas. Cancer Res. 54: 2084–2087.

    PubMed  CAS  Google Scholar 

  127. Siegel, E. C. and V. Bryson. 1964. Selection of resistant strains of Escherichia coli by antibiotics and antibacterial agents: role of normal and mutator strains. Antimicrobial Agents and Chemother. 629–634.

    Google Scholar 

  128. Siegel, E. C. and J. J. Ivers. 1975. mut-25, a mutation to mutator linked to purA in Escherichia coli. J. Bacteriol. 121: 524–530.

    Google Scholar 

  129. Siegel, E. C. and F. Kamel. 1974. Reversion of frameshift mutations by mutator genes in Escherichia coli. J. Bacterial. 117.

    Google Scholar 

  130. Singhal, R. P., L. L. Mays-Hoopes, and G. L. Eichhorn. 1987. DNA methylation in aging of mice. Mech. Ageing and Dev. 41: 199–210.

    CAS  Google Scholar 

  131. Solaro, P. C., K. Birkenkamp, P. Pfeiffer, and B. Kemper. 1993. Endocuclease VII of phage T4 triggers mismatch correction in vitro. J. Mol. Biol. 230: 868–877.

    CAS  Google Scholar 

  132. Stallings, R. L., A. F. Ford, D. C. Torney, C. E. Hildebrand, and R. K. Moyzis. 1991. Evolution and distribution of (GT)n repetitive sequences in mammalian genomes. Genomics 10: 807–815.

    PubMed  CAS  Google Scholar 

  133. Strand, M., M. C. Earley, G. F. Crouse, and T. D. Petes. 1995. Mutations in the MSH3 gene preferentially lead to deletions within tracts of simple repetitive DNA in Saccharomyces cerevisiae. Proc Natl. Acad. Sci. USA 92: 10,418–10, 421.

    Google Scholar 

  134. Strand, M., T. A. Prolla, R. M. Liskay, and T. D. Petes. 1993. Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365: 274–276.

    PubMed  CAS  Google Scholar 

  135. Strickler, J. G., J. Zheng, Q. Shu, L. J. Burgart, S. R. Albert, and D. Shibata. 1994. p53 mutations and microsatellite instability in sporadic gastric cancer: when guardians fail. Cancer Res. 54: 4750–4755.

    Google Scholar 

  136. Su, S.-S., R. S. Lahue, K. G. Au, and P. Modrich. 1988. Mispair specificity of methyl-directed DNA mismatch correction in vitro. J. Biol. Chem. 263: 6829–6835.

    CAS  Google Scholar 

  137. Su, S.-S. and P. Modrich. 1986. Escherichia coli mutS-encoded protein binds to mismatched DNA base pairs. Proc. Natl. Acad. Sci. USA 83: 5057–5061.

    CAS  Google Scholar 

  138. Tautz, D. and M. Renz. 1984. simple sequences are ubiquitous components of eukaryotic genomes. Nucleic Acids Res. 12: 4127–4136.

    Google Scholar 

  139. te Riele, H., E. R. Maandag, and A. Berns. 1992. Highly efficient gene targeting in embryonic stem cells through homologous recombination with isogenic DNA constructs. Proc. Natl. Acad. Sci. USA 89: 5128–5132.

    Google Scholar 

  140. Thibodeau, S. N., G. Bren, and D. Schaid. 1993. Microsatellite instability in cancer of the proximal colon. Science 260: 816–819.

    PubMed  CAS  Google Scholar 

  141. Vargas, P. A. and D. S. Alberts. 1992. Primary prevention of colorectal cancer through dietary modification. Cancer 70: 1229–1235.

    PubMed  CAS  Google Scholar 

  142. Vogelstein, B. Personal communication.

    Google Scholar 

  143. Wagner, R. and M. Meselson. 1976. Repair tracts in mismatched DNA heteroduplexes. Proc. Natl. Acad. Sci. USA 73: 4135–4139.

    PubMed  CAS  Google Scholar 

  144. Warthin, A. S. 1913. Heredity with reference to carcinoma as shown by studies of the cases examined in the pathological laboratory of the University of Michigan, 1895–1913. Arch. Intern. Med. 12: 546–555.

    Google Scholar 

  145. Watson, P. and H. T. Lynch. 1993. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 71: 677–685.

    PubMed  CAS  Google Scholar 

  146. Welsh, K. M., A.-L. Lu, S. Clark, and P. Modrich. 1987. Isolation and characterization of the Escherichia coli mutH gene product. J. Biol. Chem. 262: 15,624–15, 629.

    Google Scholar 

  147. Williamson, M. S., J. C. Game, and S. Fogel. 1985. Meiotic gene conversion mutants in Saccharomyces cerevisiae. I. Isolation and characterization of pmsl-1 and pmsl-2. Genetics 110: 609–646.

    CAS  Google Scholar 

  148. Wooster, R., J. A. Cleton, N. Collins, J. Mangion, R. S. Cornelis, C. S. Cooper, B. A. Gusterson, B. A. Ponder, D. A. von, O. D. Wiestler, et al. 1994. Instability of short tandem repeats (microsatellites) in human cancers. Nature Genet. 6: 152–156.

    PubMed  CAS  Google Scholar 

  149. Worth, L., Jr., S. Clark, M. Radman, and P. Modrich. 1994. Mismatch repair proteins MutS and MutL inhibit RecA-catalyzed strand transfer between diverged DNAs. Proc. Natl. Acad. Sci. USA 91: 3238–3241.

    PubMed  CAS  Google Scholar 

  150. Yee, C. J., N. Roodi, C. S. Verrier, and F. F. Parl. 1994. Microsatellite instability and loss of heterozigozity in breast cancer. Cancer Res. 54: 1641–1644.

    PubMed  CAS  Google Scholar 

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  1. Tomas A. Prolla
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  2. Sean Baker
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  3. R. Michael Liskay
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Editors and Affiliations

  1. University of New Mexico, Albuquerque, NM, USA

    Jac A. Nickoloff

  2. Signal Pharmaceuticals, San Diego, CA, USA

    Merl F. Hoekstra

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Prolla, T.A., Baker, S., Liskay, R.M. (1998). Genetics of DNA Mismatch Repair, Microsatellite Instability, and Cancer. In: Nickoloff, J.A., Hoekstra, M.F. (eds) DNA Damage and Repair. Contemporary Cancer Research. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-455-9_20

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  • DOI: https://doi.org/10.1007/978-1-59259-455-9_20

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