DNA methylation errors and cancer

Cancer Research

Volumn 56, Issue 11, 1996, Pages 2463-2467

  Jones, Peter A ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE;

CANCER; CARCINOGENESIS; CELL GROWTH; DNA METHYLATION; ENZYME MECHANISM; GENE EXPRESSION; GENOME IMPRINTING; GROWTH INHIBITION; GROWTH REGULATION; HUMAN; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; REVIEW; TUMOR SUPPRESSOR GENE;

5-METHYLCYTOSINE; ANIMALS; CYTOSINE; DNA, NEOPLASM; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; IMPRINTING (PSYCHOLOGY); METHYLATION; MUTATION; NEOPLASMS;

EID: 0029898837     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (60)

1. Santi, D V., Garrett, C. E., and Barr, P. J. On the mechanism of inhibition of DNA-cytosine methyltransferases by cytosine analogs. Cell, 33: 9-10, 1983.
2. Ivanetich, K. M., and Santi, D. V. 5-6-Dihydropyrimidine adducts in the reactions and interactions of pyrimidines with proteins. Prog. Nucl. Acids Res. & Mol. Biol , 42: 127-156, 1992
3. Shen, J-C., Rideout, W M., III, and Jones, P. A High frequency mutagenesis by a DNA methyltransferase. Cell, 71: 1073-1080, 1992.
4. Posfai, J., Bhagwat, A. S , Posfai, G , and Roberts, R. J Predictive motifs derived from cytosine methyltransferases. Nucleic Acids Res., 17: 2421-2435, 1989.
5. Friedman, S. The irreversible binding of azacytosine-containing DNA fragments to bacterial DNA (cytosine-5) methyltransferases. J. Biol Chem., 260: 5698-5705, 1985.
6. Smith, S. S. Biological implications of the mechanism of action of human DNA (cytosine-5) methyltransferase. Prog Nucleic Acids Res & Mol. Biol., 49, 65-111, 1994.
7. Klimasauskas, S., Kumar, S , Roberts, R. J., and Cheng, X. HhaI methyltransferase flips its target base out of the DNA helix. Cell, 76: 357-369, 1994.
8. Reinish, K M., Chen, L., Verdine, G. L., and Lipscomb, W. N. The crystal structure of HaeIII methyltransferase covalently complexed to DNA. an extrahelical cytosine and rearranged base flipping. Cell, 82: 143-153, 1995
9. Mol, C. D, Arvai, A. S., Slupphaug, G , Kavil, B., Alseth, I., Krokan, H. E., and Trainer, J. A Crystal structure and mutational analysis of human uracil DNA glycosylase: structural basis for specificity and catalysis. Cell, 80: 869-878, 1995.
10. Roberts, R. J. On base flipping. Cell, 82: 9-12, 1995.
11. Coulondre, C., Miller, J. H., Farabaugh, P. J., and Gilbert, W. Molecular basis of base substitution hotspots in Escherichia coli. Nature (Lond.), 274: 775-780, 1978.
12. Lindahl, T Instability and decay of the primary structure of DNA Nature (Lond.), 362: 709-715, 1993
13. Lieb, M , Allen, E , and Read, D. Very short patch mismatch repair in phage lambda: repair sites and length of repair track. Genetics, 114. 1041-1060, 1986.
14. Lieb, M., and Rehmat, S Very short patch of T:G mismatches in vivo, importance of context and accessory proteins. J Bacteriol, 177 660-666, 1995.
15. Neddermann, P., and Jiricny, J. The purification of a mismatch-specific thymine DNA glycosylase from Hela cells. J. Biol. Chem., 268, 21218-21224, 1993.
16. Schmutte, C , Yang, A S., Beart, R. W., and Jones, P A. Base excision repair of U.G mismatches at a mutational hotspot in the p53 gene is more efficient than base excision repair of T:G mismatches in extracts of human colon tumors. Cancer Res., 55: 3742-3746, 1995.
17. Li, H , Bestor, T H., and Jaenisch, R. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell, 69: 915-926, 1992.
18. Li, E., Beard, C., and Jaenisch, R. Role for DNA methylation in genomic imprinting Nature (Lond), 366: 362-365, 1993.
19. Ferguson-Smith, A. C., Sasaki, H., Cattanach, B. M , and Surani, M. A Parental origin specific epigenetic modification of the mouse H19 gene Nature (Lond.), 362: 751-755, 1993.
20. Sasaki, M., Jones, P A., Chaillet, J. R., Ferguson-Smith, A C , Barton, S. C., Reik, W , and Surani, M A. Parental imprinting: potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II (Igf-2) gene. Genes & Dev , 6. 1843-1856, 1992
21. Stoger, R , Kubicka, P. Liu, C-G., Kafri, T., Razin, A., Cedar, H , and Barlow, D. P. Maternal-specific methylation of the imprinted mouse Igf-2r locus identifies the expressed locus as carrying the imprinting signal Cell, 73: 61-71, 1993
22. Feinberg, A. P Genomic imprinting and gene activation in cancer. Nature Genet., 4: 110-113, 1993
23. Kochanek, S , Renz, D., and Doerfler, W. DNA methylation in the Alu sequences of diploid and haploid primary human cells. EMBO J., 12: 1141-1151, 1993.
24. Crowther, P. J., Doherty, J P, Linsenneyer, M E., Williamson, M. R., and Woodcock, D. M. Revised genomic consensus for the hypermethylated CpG island region of the human L1 transposon and integration sites of full length L1 elements from recombinant clones using methylation-tolerant host strains. Nucleic Acids Res., 19. 2395-2401, 1991
25. Bestor, T. H DNA methylation, evolution of a bacterial immune function into a regulator of gene expression and genome structure in higher eukaryotes. Philos Trans. R. Soc. Lond B Biol Sci , 326 179-187, 1990.
26. Cooper, D N , and Youssoufian, H. The CpG dinucleotide and human genetic disease. Hum Genet., 78 151-155, 1988
27. Rideout, W. M., III, Coetzee, G. A., Olumi, A. F., and Jones, P. A 5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes. Science (Washington DC), 249: 1288-1290, 1990.
28. Fearon, E. R., and Jones, P. A. Progressing toward a molecular description of colorectal cancer development. FASEB J., 6: 2783-2790, 1992.
29. Somer, S S. Mutagen test. Nature (Lond.), 346: 22-23, 1990.
30. Greenblat, M S., Bennett, W. P., Hollstein, M., and Harris, C. C. Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res., 54: 4855-4878, 1994.
31. Schmutte, C., Rideout, W. M., III, Shen, J-C., and Jones, P. A Mutagenicity of nitric oxide is not caused by deamination of cytosine or 5-methylcytosine in double stranded DNA. Carcinogenesis (Lond.), 15. 2899-2903, 1994.
32. Yang, A. S., Shen, J-C., Zingg, J-M., Sha, M., and Jones, P. A. HhaI and HpaII DNA methyltransferases bind DNA mismatches, methylate uracil and block DNA repair. Nucleic Acids Res., 23: 1380-1387, 1995
33. Shen, J-C., Zingg, J-M., Yang, A. S , Schmutte, C , and Jones, P. A. A mutant HpaII methyltransferase functions as a mutator enzyme Nucleic Acids Res., 23: 4275-4282, 1995.
34. Klimasauskas, S., and Roberts, R. J. M. HhaI binds tightly to substrates containing mismatches at the target base. Nucleic Acids Res., 23: 1388-1395, 1995.
35. Yebra, M. J , and Bhagwat, A S. A cytosine methyltransferase converts 5-methylcytosine in DNA to thymine. Biochemistry, 34: 14752-14757, 1995.
36. Schmutte, C., Yang, A. S., Nguyen, T-D. T , Beart, R. W., and Jones, P. A. Mechanisms for the involvement of DNA methylation in colon carcinogenesis. Cancer Res , 56: 2375-2381, 1996.
37. Feinberg, A P., Gehrke, C. W., Kuo, K. C., and Ehrlich, M. Reduced genomic 5-methylcytosine content in human colonic neoplasia. Cancer Res., 48: 1159-1161, 1988.
38. Feinberg, A. P., and Vogelstein, B Hypomethylation distinguishes genes of some human cancers from their normal counterparts Nature (Lond.), 301: 89-91, 1983.
39. Baylin, S. B., Fearon, E. R., Vogelstein, B , de Bustros, A., Sharkis, S. J., Burke, P. J., Steal, S. P., and Nelkin, B D. Hypermethylation of the 5′ region of the calcitonin gene is a property of human lymphoid and acute myeloid malignancies. Blood, 70: 412-417, 1987.
40. Kautiainen, T L., and Jones, P A. DNA methyltransferase levels in tumorigenic and nontumongenic cells in culture. J Biol. Chem., 261: 1594-1598, 1986
41. Laird, P. W., Jackson-Grusby, L., Fazell, A , Dickinson, S. L., Jung, W. E , Li, E., Weinberg, R A., and Jaenisch, R Suppression of interstitial neoplasia by DNA hypomethylation. Cell, 8: 197-205, 1995.
42. Laird, P. W., and Jaenisch, R. DNA methylation and cancer. Hum. Mol. Genet., 3: 1487-1495, 1994.
43. Pfeifer, G. D., Steigerwald, S. D. Hansen, R. S., Garther, S. M., and Riggs, A. D. Polymerase chain reaction-aided genomic sequencing of an X chromosome-linked CpG island, methylation patterns suggest clonal inheritance, CpG site autonomy, and an explanation of activity state stability. Proc. Natl. Acad. Sci. USA, 87: 8252-8256, 1990.
44. Jones, P. A., Wolkowicz, M. J., Rideout, W. M., Gonzales, F. A , Marziasz, C. M., Coetzee, G. A., and Tapscott, S. J. De novo methylation of the MyoD1 CpG island during the establishment of immortal cell lines. Proc. Natl. Acad. Sci. USA, 87: 6117-6121, 1990.
45. Antequera, F., Boyes, J , and Bird, A P. High levels of de novo methylation and altered chromatin structure at CpG islands in cell lines Cell. 62: 503-514, 1990.
46. Issa, J-P., Ottaviano, Y L., Celano, P , Hamilton, S. R., Davidson, N. E., and Baylin, S. B. Methylation of the oestrogen receptor CpG island links aging and neoplasia in human colon. Nat. Genet , 7: 536-540, 1994.
47. Boyes, J., and Bird, A. Repression of genes by DNA methylation depends on CpG density and promoter strength: evidence for involvement of a methyl-CpG binding protein. EMBO J., 11: 327-333, 1992.
48. Hsieh, C-L. Dependence of transcriprional repression on CpG methylation density Mol. Cell. Biol , 14: 5487-5494, 1994.
49. Rideout, W. M , III, Eversole-Cire, P., Spruck, C. H , III, Hustad, C. M., Coetzee, G. A., Gonzales, F , and Jones, P A. Progressive increases in the methylation status and heterochromatinization of the MyoD CpG island during oncogenic transformation. Mol. Cell. Biol , 14, 6143-6152, 1994
50. Jones, P. A., and Taylor, S. M. Cellular differentiation, cytidine analogs and DNA methylation Cell, 20: 85-93, 1980.
51. Jones, P A. Altering gene expression with 5-azacytidine. Cell, 40: 485-486, 1985.
52. Momparler, R., and De Vos, D. 5-Aza-2′-deoxycytidine, preclinical and clinical studies. Haarlem, the Netherlands. PCH Publications, 1990.
53. Barker D., Schafer, M., and White, R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell, 36: 131-138, 1984.
54. Greger, V., Passarge, E., Hopping, W., Messmer, E., and Horsthemke, B Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum. Genet., 83: 155-158, 1989.
55. Sakai, T., Toguchida, J , Ohtani, N, Yandell, D. W., Rapaport, J. M., and Dryja, T P. Allele specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J. Human Genet., 48: 880-888, 1991.
56. Herman, J. G., Lauf, F., Weng, Y., Lerman, M. I., Zbar, B., Liu, S., Samid, D., Duan, D. S., Gnarra, J. R , and Linehan, W M. Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc. Natl. Acad Sci. USA, 91 9700-9704, 1994.
57. Merlo, A., Herman, J. G., Mao, L., Lee, D. J., Gabrielson, E., Burger, P. C., Baylin, S., and Sidransky, D. 5′ CpG island methylation is associated with transcriptional silencing of the tumor suppressor p16/CDKN2/MTS1 in human cancers. Nat. Med., 1: 686-692, 1995.
58. Herman, J. G., Merlo, A., Mao, L., Lapidus, R. G , Issa, J-P. J., Davidson, N. E., Sidransky, D , and Baylin, S. B. Inactivation of the CDKN2/p16/MTS1 gene is frequently associated with aberrant DNA methylation in all common human cancers. Cancer Res., 55, 4525-4530, 1995.
59. Gonzalez-Zulueta, M., Bender, C. M , Yang, A. S., Nguyen, T., Beart, R. W., Van Tomout, J. M., and Jones, P. A Methylation of the 5′ CpG island of the p16/CDKN2 tumor suppressor genes in normal and transformed human tissues correlates with gene silencing. Cancer Res., 55, 4531-4535, 1995.
60. Yoshiura, K., Kanai, Y., Ochiai, A., Shimoyama, Y., Sugimura, T., and Hirohashi, S. Silencing of the E-cadherin invasion-suppressor gene by CpG methylation in human carcinomas. Proc. Natl. Acad. Sci. USA, 92: 7416-7419, 1995