Molecular devices for high fidelity of DNA replication and gene expression

Proceedings of the Japan Academy Series B: Physical and Biological Sciences

Volumn 82, Issue 8, 2006, Pages 278-296

  Sekiguchi, Mutsuo ^a  

^a FUKUOKA DENTAL COLLEGE   (Japan)

Author keywords

Apoptosis; Carcinogenesis; DNA repair; DNA replication; Gene expression; Mutagenesis

Indexed keywords

MAMMALIA;

EID: 33845286196     PISSN: 03862208     EISSN: 03862208     Source Type: Journal    
DOI: 10.2183/pjab.82.278     Document Type: Review

References (95)

1. Drake, J. W. (1969) Spontaneous mutation: Comparative rates of spontaneous mutation. Nature 221, 1132.
2. Kasai, H., and Nishimura, S. (1984) Hydroxylation of deoxyguanosine at the C-8 position by ascorbic acid and other reducing agents. Nucl. Acids Res. 12, 2137-2145.
3. Nishimura, S. (2006) 8-Hydroxyguanine: From its discovery in 1983 to the present status. Proc. Jpn. Acad., Ser. B 82, 127-140.
4. Sekiguchi, M. (2006) A quest to understand molecular mechanisms for genetic stability. DNA Repair 5, 750-758.
5. Maki, H. (2002) Origins of spontaneous mutations: specificity and directionality of base-substitution, frameshift, and sequence-substitution mutagenesis. Annu. Rev. Genet. 36, 279-303.
6. Stojic, L., Brun, R., and Jiricny, J. (2004) Mismatch repair and DNA damage signalling. DNA Repair 3, 1091-1101.
7. Kunkel, T. A., and Erie, D. A. (2005) DNA mismatch repair. Annu. Rev. Biochem. 74, 681-710.
8. Treffers, H. P., Spinelli, V., and Belser, N. O. (1954) A factor (or mutator gene) influencing mutation rates in Escherichia coli. Proc. Natl. Acad. Sci. USA 40, 1064-1071.
9. Yanofsky, C., Cox, E. C., and Horn, V. (1996) The unusual mutagenic specificity of an E. coli mutator gene. Proc. Natl. Acad. Sci. USA 55, 274-281.
10. Cox, E. C., and Yanofsky, C. (1967) Altered base ratios in the DNA of an Escherichia coli mutator strain. Proc. Natl. Acad. Sci. USA 58, 1895-1902.
11. Akiyama, M., Horiuchi, T., and Sekiguchi, M. (1987) Molecular cloning and nucleotide sequence of the mutT mutator of Escherichia coli that causes A:T to C:G transversion. Mol. Gen. Genet. 206, 9-16.
12. Bhatnagar, S. K., and Bessman, M. J. (1988) Studies on the mutator gene, mutT of Escherichia coli. Molecular cloning of the gene, purification of the gene product, and identification of a, novel nucleoside triphosphatase. J. Biol. Chem. 263, 8953-8957.
13. Topal, M. D., and Fesco, J. R. (1976) Comprementary base paring and the origin of substitution mutations. Nature 263, 285-289.
14. Akiyama, M., Maki, H., Sekiguchi, M., and Horiuchi, T. (1989) A specific role of MutT protein: To prevent dG·dA mispairing in DNA replication. Proc. Natl. Acad. Sci. USA 86, 3949-3952.
15. Maki, H., and Sekiguchi, M. (1992) MutT protein specifically hydrolyses a potent mutagenic sub strate for DNA synthesis. Nature 355, 273-275.
16. Tajiri, T., Maki, H., and Sekiguchi, M. (1995) Functional cooperation of MutT, MutM and MutY proteins in preventing mutations caused by spontaneous oxidation of guanine nucleotide in Escherichia coli. Mutat. Res. 336, 257-267.
17. Tchou, J., Kasai, H., Shibutani, S., Chung, M.-H., Laval, J., Grollman, A. P., and Nishimura, S. (1991) 8-Oxoguanine (8-hydroxyguanine) DNA glycosylase and its substrate specificity. Proc. Natl. Acad. Sci. USA 88, 4690-4694.
18. Michaels, M. L., Pham, L., Cruz, C., and Miller, J. H. (1991) MutM, a protein that prevents GO to TA transversions, is formamidopyrimidine-DNA glycosylase. Nucl. Acids Res. 19, 3629-3632.
19. Cabrera, M., Nghiem, Y., and Miller, J. H. (1988) MutM, a second mutator locus in Escherichia coli that generates G·C → T·A transversions. J. Bacteriol. 170, 5405-5407.
20. Nghiem, Y., Cabrera, M., Cupples, C. G., and Miller, J. H. (1988) The mutY gene: A mutator locus in Escherichia coli that generates G · C to T · A transversions. Proc. Natl. Acad. Sci. USA 85, 2709-2713.
21. Au, K. G., Clark, S., Miller, J. H., and Modrich, P. (1989) Escherichia coli mutY gene encodes an adenine glycosylase active on G-A mispairs. Proc. Natl. Acad. Sci. USA 86, 8877-8881.
22. Michaels, M. L., Cruz, C., Grollman, A. P., and Miller, J. H. (1992) Evidence that an MutY and MutM combine to prevent mutations by an oxidatively damaged form of guanine in DNA. Proc. Natl. Acad. Sci. USA 89, 7022-7025.
23. Shigenega, M. K., Gimeno, C. J., and Ames, B. N. (1989) Urinary 8-hydroxy-2'-deoxyguanosine as a biological marker of in vivo oxidative DNA damage. Proc. Natl. Acad. Sci. USA 86, 9697-9701.
24. Fraga, C. G., Sigenega, M. K., Park, J.-W., Degan, P., and Ames, B. N. (1990) Oxidative damage to DNA during aging: 8-hydroxy-2'-deoxyguanosine in rat organ DNA and urine. Proc. Natl. Acad. Sci. USA 87, 4533-4537.
25. Mo, J.-Y., Maki, H., and Sekiguchi, M. (1992) Hydrolytic elimination of a mutagenic nucleotide, 8-oxodGTP, by human 18-kilodalton protein: sanitization of nucleotide pool. Proc. Natl. Acad. Sci. USA 89, 11021-11025.
26. Sakumi, K., Furuichi, M., Tsuzuki, T., Kakuma, T., Kawabata, S., Maki, H., and Sekiguchi, M. (1993) Cloning and expression of cDNA for a human enzyme that hydrolyzes 8-oxo-dGTP, a mutagenic substrate for DNA synthesis. J. Biol. Chem. 268, 23524-23530.
27. Kakuma, T., Nishida, J., Tsuzuki, T., and Sekiguchi, M. (1995) Mouse MTH1 protein with 8-oxo-7, 8-dihydro-2'-deoxyguanosine 5'-triphosphatase activity that prevents transver sion mutation. J. Biol. Chem. 270, 25942-25948.
28. Cai, J., Kakuma, T., Tsuzuki, T., and Sekiguchi, M. (1995) cDNA and genomic sequences for rat 8-oxo-dGTPase that prevents occurrence of spontaneous mutations due to oxidation of guanine nucleotides. Carcinogenesis 16, 2343-2350.
29. Furuichi, M., Yoshida, M. C., Oda, H., Tajiri, T., Nakabeppu, Y., Tsuzuki, T., and Sekiguchi, M. (1994) Genomic structure and chromosome location of the human mutT homologue gene MTH1 encoding 8-oxo-dGTPase for prevention of A:T to C:G transversion. Genomics 24, 485-490.
30. Shimokawa, H., Fujii, Y., Furuichi, M., Sekiguchi, M., and Nakabeppu, Y. (2000) Functional significance of conserved residues in the phospho-hydrolase module of Escherichia coli MutT protein. Nucl. Acids Res. 28, 3240-3249.
31. Fujii, Y., Shimokawa, H., Sekiguchi, M., and Nakabeppu, Y. (1999) Functional significance of the conserved residues for the 23-residue module among MTH1 and MutT family proteins. J. Biol. Chem. 274, 38251-38259.
32. Igarashi, H., Tsuzuki, T., Kakuma, T., Tominaga, Y., and Sekiguchi, M. (1997) Organization and expression of the mouse MTH1 gene for preventing transversion mutation. J. Biol. Chem. 272, 3766-3772.
33. Tsuzuki, T., Egashira, A., Igarashi, H., Iwakuma, T., Nakatsuru, Y., Tominaga, Y., Kawate, H., Nakao, K., Nakamura, K., Ide, F. et al. (2001) Spontaneous tumorigenesis in mice defective in the MTH1 gene encoding 8-oxo-dGTPase. Proc. Natl. Acad. Sci. USA 98, 11456-11461.
34. Kakuma, T., Nishida, J., Tsuzuki, T., and Sekiguchi, M. (1995) Mouse MTH1 protein with S-oxo-7, 8-dihydro-2'-deoxyguanosine 5'-triphosphatase activity that prevents transversion mutation: cDNA cloning and tissue distribution. J. Biol. Chem. 270, 25942-25948.
35. Cai, J. P., Ishibashi, T., Takagi, Y., Hayakawa, H., and Sekiguchi, M. (2003) Mouse MTH2 protein which prevents mutations caused by 8-oxoguanine nucleotides. Biochem. Biophys. Res. Commun. 305, 1073-1077.
36. Bessman, M. J., Frick, D. N., and O'Handley, S. F. (1996) The MutT proteins or 'Nudix' hydrolases, a family of versatile, widely distributed, 'housecleaning' enzymes. J. Biol. Chem. 271, 25059-25062.
37. Ishibashi, T., Hayakawa, H., and Sekiguchi, M. (2003) A novel mechanism for preventing mutations caused by oxidation of guanine nucleotides. EMBO Rep. 4, 479-483.
38. Yang, H., Slupska, M. M., Wei, Y. F., Tai, J. H., Luther, W. M., Xia, Y. R., Shin, D. M., Chiang, J. H., Baikalov, C., Fitz-Gibbon, S. et al. (2000) Cloning and characterization of a new member of the Nudix hydrolases from human and mouse. J. Biol. Chem. 275, 8844-8853.
39. Hayakawa, H., Taketomi, A., Sakumi, K., Kuwano, M., and Sekiguchi, M. (1995) Generation and elimination of 8-oxo-7, 8-dihydro-2'-deoxyguanosine 5'-triphosphate, a mutagenic substrate for DNA synthesis, in human cells. Biochemistry 34, 89-95.
40. Fujikawa, K., Kamiya, H., Yakushiji, H., Fujii, Y., Nakabeppu, Y., and Kasai, H. (1999) The oxidized forms of dATP are substrates for the human MutT homologue, the hMTH1 protein. J. Biol. Chem. 274, 18201-18205.
41. Bialkowski, K., and Kasprzak, K. S. (1998) A novel assay of 8-oxo-2'-deoxyguanosine-5'-triphosphate pyrophosphohydrolase (8-oxo-dGTPase) activity in cultured cells and its use for evaluation of cadmium(II) inhibition of this activity. Nucl. Acids Res. 26, 3194-3201.
42. Egashira, A., Yamauchi, K., Yoshiyama, K., Kawate, H., Katsuki, M., Sekiguchi, M., Sugimachi, K., Maki, H., and Tsuzuki, T. (2002) Mutational specificity of mice defective in the MTH1 and/or the MSH2 genes. DNA Repair 1, 881-893.
43. Ninio, J. (1991) Connections between translation, transcription and replication error-rates. Biochimie 73, 1517-1523.
44. Taddei, F., Hayakawa, H., Bouton, M., Cirinesi, A., Matic, I., Sekiguchi, M., and Radman, M. (1997) Counteraction by MutT protein of transcriptional errors caused by oxidative damage. Science 278, 128-130.
45. Ito, R., Hayakawa, H., Sekiguchi, M., and Ishibashi, T. (2005) Multiple enzyme activities of Escherichia coli MutT protein for sanitization of DNA and RNA precursor pools. Biochemistry 44, 6670-6674.
46. Ishibashi, T., Hayakawa, H., Ito, R., Miyazawa, M., Yamagata, Y., and Sekiguchi, M. (2005) Mammalian enzymes for preventing transcriptional errors caused by oxidative damage. Nucl. Acids Res. 33, 3779-3784.
47. Cupples, C., and Miller, J. H. (1989) A set of mutations in Escherichia coli that allow rapid detection of each of the six base substitutions. Proc. Natl. Acad. Sci. USA 86, 5345-5349.
48. Hayakawa, H., Hofer, A., Thelander, L., Kitajima, S., Cai, Y., Oshiro, S., Yakushiji, H., Nakabeppu, Y., Kuwano, M., and Sekiguchi, M. (1999) Metabolic fate of oxidized guanine ribonucleotides in mammalian cells. Biochemistry 38, 3610-3614.
49. Hayakawa, H., Kuwano, M., and Sekiguchi, M. (2001) Specific binding of 8-oxoguanine-containing RNA to polynucleotide phosphorylase protein. Biochemistry 40, 9977-9982.
50. old-35, in the context of terminal differentiation and cellular senescence. Proc. Natl. Acad. Sci. USA 99, 16636-16641.
51. Raijmakers, R., Egberts, W. V., van Venrooij, W. J., and Pruijin, G. J. M. (2002) Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into six-membered PNPase-like ring. J. Mol. Biol. 323, 653-663.
52. Piwowarski, J., Grzechnik, P., Dziembowski, A., Dmochowska, A., Minczuk, M., and Stepien, P. P. (2003) Human polynucleotide phosphorylase, hPNPase, is localized in mitochondria. J. Mol. Biol. 329, 853-857.
53. Hayakawa, H., and Sekiguchi, M. (2006) Human polynucleotide phosphorylase protein in response to oxidative stress. Biochemistry 45, 6749-6755.
54. Hayakawa, H., Uchiumi, T., Fukuda, T., Ashizuka, M., Kohno, K., Kuwano, M., and Sekiguchi, M. (2002) Binding capacity of human YB-1 protein for RNA containing 8-oxoguanine. Biochemistry 41, 12739-12744.
55. Nunomura, A., Perry, G., Pappolla, M. A., Wade, R., Hirai, K., Chiba, S., and Smith, M. A. (1999) RNA oxidation is a prominent feature of vulnerable neurons in Alzheimer's disease. J. Neurosci. 19, 1959-1964.
56. Zhang, J., Perry, G., Smith, M. A., Robertson, D., Olson, S. J., Graham, D. G., and Montine, T. J. (1999) Parkinson's disease is associated with oxidative damage to cytoplasmic DNA and RNA in substantia nigra neurons. Am. J. Pathol. 154, 1423-1429.
57. Loveless, A. (1969) Possible relevance of O-6 alkylation of deoxyguanosine to the mutagenicity and carcinogenicity of nitrosamides and nitrosamides. Nature 223, 206-207.
58. Coulondre, C., and Miller, J. H. (1977) Genetic studies of the lac repressor. IV. Mutagenic specificity in the lad gene of Escherichia coli. J. Mol. Biol. 117, 577-606.
59. Sukumar, S., Natario, V., Mrtin-Zenca, D., and Barbacid, M. (1983) Induction of mammary carcionomas in rats by nitrosomethylurea, involves malignant activation of H-ras-1 locus by single point mutations. Nature 306, 658-661.
60. Olsson, M., and Lindahl, T. (1980) Repair of alkylated DNA in Escherichia coli. J. Biol. Chem. 255, 10569-10571.
61. 6-methylguanine-DNA methyltransferase. J. Biol. Chem. 265, 14754-14762.
62. 6-methylguanine from DNA. J. Natl. Cancer Inst. 53, 1839-1841.
63. 6- ethylguanine in rat-brain DFNA: correlation with nervous system-specific carcinogenesis by ethylnitrosourea. Proc. Natl. Acad. Sci. USA 71, 639-643.
64. Day, R. S. III, Ziolkowski, C. H. J., Scudiero, D. A., Meyer, S. A., and Mattern, M. R. (1980) Human tumor cell strains defective in the repair of alkylation damage. Carcinogenesis 1, 21-32.
65. 6-methylguanine from DNA of normal and xe-roderma pigmentosum-derived lymphoblastoid lines. Nature 289, 417-420.
66. 6-alkylguanine. Proc. Natl. Acad. Sci. USA 87, 686-690.
67. 6-methylguanine-DNA methyltransferase: cDNA expression in Escherichia coli and gene expression in human cells. J. Biol. Chem. 265, 9563-9569.
68. 6-methylguanine in DNA. J. Mol. Biol. 213, 739-747.
69. 6-methylguanine-DNA methyltransferase. Carcinogenesis 13, 289-296.
70. 6- methylguanine-DNA methyltransferase. Mutat. Res. 293, 119-132.
71. Tsuzuki, T., Sakumi, K., Shiraishi, A., Kawate, H., Igarashi, H., Iwakuma, T., Tominaga, Y., Zhang, S., Shimizu, S., Ishikawa, T. et al. (1996) Targeted disruption of the DNA repair methyltransferase gene renders mice hypersensitive to alkylating agent. Carcinogenesis 17, 1215-1220.
72. Sakumi, K., Shiraishi, A., Shimizu, S., Tsuzuki, T., Ishikawa, T., and Sekiguchi, M. (1997) Methylnitrosourea-induced tumorigenesis in MGMT gene knockout mice. Cancer Res. 57, 2415-2418.
73. Iwakuma, T., Sakumi, K., Nakatsuru, Y., Kawate, H., Igarashi, H., Shiraishi, A., Tsuzuki, T., Ishikawa, T., and Sekiguchi, M. (1997) High in cidence of nitrosoamine-induced tumorigenesis in mice lacking DNA repair methyltransferase. Carcinogenesis 18, 1631-1635.
74. Glassner, B. J., Weeda, G., Allan, J. M., Broekhof, J. L. M., Carls, N. H. E., Donker, I., Engelward, B. P., Hampson, R. J., Hersmus, R., Hickman, M. J. et al. (1999) DNA repair methyltransferase (Mgmt) knockout mice are sensitive to the lethal effects of chemotherapeutic alkylating agents. Mutagenesis 14, 339-347.
75. Shiraishi, A., Sakumi, K., and Sekiguchi, M. (2000) Increased susceptibility to chemotherapeutic alkylating agents of mice deficient in DNA repair methyltransferase. Carcinogenesis 21, 1879-1883.
76. Kawate, H., Sakumi, K., Tsuzuki, T., Nakatsuru, Y., Ishikawa, T., Takahashi, S., Takano, H., Noda, T., and Sekiguchi, M. (1998) Separation of killing and tumorigenic effects of an alkylating agent in mice defective in two of the DNA repair genes. Proc. Natl. Acad. Sci. USA 95, 5116-5120.
77. de Wind, N., Dekker, M., van Rossum, A., van der Valk, M., and te Riele, H. (1998) Mouse models for hereditary nonpolyposis colorectal cancer. Cancer Res. 58, 248-255.
78. 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. et al. (1998) Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1, and Pms2 DNA mismatch repair. Nature Genet. 18, 276-279.
79. Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomäki, P., Sistonen, P., Aaltonen, L. A., Nystrom-Lahti, M. et al. (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75, 1215-1225.
80. 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. et al. (1994) Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368, 258-261.
81. 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. et al. (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263, 1625-1629.
82. Kolodner, R. D., Hall, N. R., Lipford, J., Kane, M. F., Morrison, P. T., Finan, P. J., Burn, J., Chapman, P., Earabino, C., Merchant, E. et al. (1995) Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations. Cancer Res. 55, 242-248.
83. Kawate, H., Itoh, R., Sakumi, K., Nakabeppu, Y., Tsuzuki, T., Ide, F., Ishikawa, T., Noda, T., Nawata, H., and Sekiguchi, M. (2000) A defect in a single allele of the Mlh1 gene causes dissociation of the killing and tumorigenic. actions of an alkylating carcinogen in methyltransferase-deficient mice. Carcinogenesis 21, 301-305.
84. de Wind, N., Dekker, M., Berns, A., Radman, M., and te Riele, H. (1995) Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination and predisposition to cancer. Cell 82, 321-330.
85. Takagi, Y., Takahashi, M., Sanada, M., Itoh, R., Yamaizumi, M., and Sekiguchi, M. (2003) Roles of MGMT and MLH1 proteins in alkylation-induced apoptosis and mutagenesis. DNA Repair 2, 1135-1146.
86. Sanada, M., Takagi, Y., Itoh, R., and Sekiguchi, M. (2004) Killing and mutagenic actions of dacarbazine, a chemotherapeutic alkylating agent, on human and mouse cells: effects of Mgmt and Mlh1 mutations. DNA Repair 3, 413-420.
87. Kane, M. F., Loda, M., Gaida, G. M., Lipman, J., Mishra, R., Goldman, H., Jessup, J. M., and Kolodner, R. (1997) Methylation of the hMlh1 promotor correlated with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res. 57, 808-811.
88. Baranovskaya, S., Sato, J. L., Perucho, M., and Malkhosyan, S. R. (2001) Functional significance of concomitant inactivation of hMLH1 and hMSH6 in tumor cells of the microsatellite mutator phenotype. Proc. Natl. Acad. Sci. USA 98, 15107-15112.
89. Yang, G., Scherer, S., Shell, S., Yang, K., Kim, M., Lipkin, M., Kucherlapati, R., Kolodner, R., and Edelmann, W. (2004) Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility. Cancer Cell 6, 139-150.
90. Lin, D. P., Wang, Y., Scherer, S. J., Clark, A. B., Yang, K., Avdievich, E., Jin, B., Werling, U., Parris, T., Kurihara, N. et al. (2004) An Msh2 point mutation uncouples DNA mismatch repair and apoptosis. Cancer Res. 64, 517-522.
91. Dzantiev, L., Constantin, N., Genschel, J., Iyer, R. R., Burgers, P. M., and Modrich, P. (2004) A defined human system that supports bidirectional mismatch-provoked excision. Mol. Cell 15, 31-41.
92. Hidaka, M., Takagi, Y., Takano, T. Y., and Sekiguchi, M. (2005) PCNA-MutSα-mediated binding of MutLα to replicative DNA with mismatched bases to induce apoptosis in human cells. Nucl. Acids Res. 33, 5703-5712.
93. 6-methylguanine adducts. Mol. Cell 22, 501-510.
94. Hardman, R. A., Afshari, C. A., and Barret, J. C. (2001) Involvement of mammalian MLH1 in the apoptotic response to peroxide-induced oxidative stress. Cancer Res. 61, 1392-1397.
95. Glaab, W. E., Hill, R. B., and Skopek, T. R. (2001) Suppression of spontaneous and hydro gen peroxide-induced mutagenesis by the antioxidant ascorbate in mismatch repair-deficient human colon cancer cells. Carcinogenesis 22, 1709-1713.