DNA Methylation and cancer (original) (raw)

References

• Albini, A., Tofferetti, J., Zhu, Z., Chader, G. J., and Noonan, D. M. (1990) Hypomethylation of the interphotoreceptor retinoid-binding protein (IRBP) promoter and first exon is linked to expression of the gene. Nucl. Acids Res. 18, 5181–5187.
  PubMed CAS Google Scholar
• Antequera, F., Macleod, D., and Bird, A. P. (1989) Specific protection of methylated CpGs in mammalian nuclei. Cell 58, 509–517.
  PubMed CAS Google Scholar
• Antequera, F., Boyes, J., and Bird, A. (1990) High levels of de novo methylation and altered chromatin structure at CpG islands in cell lines. Cell 82, 503–514.
  Google Scholar
• Baker, S. J., Fearon, E. R., Nigro, J. M., Hamilton, S. R., Preisinger, A. C., Jessup, J. M., Van Tuinen, P., Ledbetter, D. H., Barker, D. F., Nakamura, Y., White, R., and Volgelstein, B. (1989) Chromosome 17 deletions and p53 gene mutations in colorectal carcinomas. Science 244, 217–221.
  PubMed CAS Google Scholar
• Baker, S. J., Preisinger, A. C., Jessup, J. M., Paraskeva, C., Markowitz, S., Willson, K. V., Hamilton, S., and Volgelstein, B. (1990) p53 Gene mutations occur in combination with 17p allelic deletions as late events in colorectal tumorigenesis. Cancer Res. 50, 7717–7722.
  Google Scholar
• Barbieri, R., Piva, R., Buzzoni, D., Volinia, S., and Gambari, R. (1987) Clustering of undermethylated CCGG and GCGC sequences in the 5’ region of the Ha-ras-1 oncogene in human leukemic K-562 cells. Biochem. Biophys. Res. Comm. 145, 96–104.
  CAS Google Scholar
• Barker, D., Schafer, M., and White, R. (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36, 131–138.
  PubMed CAS Google Scholar
• Bartek, J., Iggo, R., Gannon, J., and Lane, D. P. (1990) Genetic and immunochemical analysis of mutant p53 in human breast cancer cell lines. Oncogene 5, 893–899.
  PubMed CAS Google Scholar
• Baylin, S. B., Hoppener, J. W. M., de Bustros, A., Steenbergh, P. H., Lips, C. J. M., and Nelkin, B. D. (1986) DNA methylation patterns of the calcitonin gene in human lung cancers and lymphomas. Cancer Res. 46, 2917–2922.
  PubMed CAS Google Scholar
• Baylin, S. B., Fearon, E. R., Volgelstein, B., de Bustros, A., Sharkis, S. J., Burke, P. J., Staal, S. P., and Nelkin, B. D. (1987) Hypermethylation of the 5’ region of the calcitonin gene is a property of human lymphoid and acute myeloid malignancies. Blood 70, 412–417.
  PubMed CAS Google Scholar
• Bedford, M. T., and van Helden, P. D. (1987) Hypomethylation of DNA in pathological conditions of the human prostate. Cancer Res. 47, 5274–5276.
  PubMed CAS Google Scholar
• Benedict, W. F., Banerjee, A., Gardner, A., and Jones, P. A. (1977) Induction of morphological transformation in mouse C3H/10T1/2 clone 8 cells and chromosomal damage in hamster A(T1)Cl-3 cells by cancer chemotherapeutic agents. Cancer Res. 37, 2202–2208.
  PubMed CAS Google Scholar
• Bennet, W. P., Hollstein, M. C., He, A., Zhu, S. M., Resan, H., Trump, B. F., Metcalf, R. A., Welsh, J. A., Midgley, C., Lane, D. P., and Harris, C. C. (1991) Archival analysis of p53 genetic and protein alterations in Chinese esophageal cancer. Oncogene 6, 1779–1784.
  Google Scholar
• Beutler, E., Gelbart, T., Han, J., Koziol, J. A., and Beutler, B. (1989) Evolution of the genome and the genetic code: selection at the dinucleotide level by methylation and polyribonucleotide cleavage. Proc. Natl. Acad. Sci. USA 86, 192–196.
  PubMed CAS Google Scholar
• Bird, A. P. (1984) DNA methylation — How important in gene control? Nature 307, 503–504.
  PubMed CAS Google Scholar
• Bird, A., Taggart, M., Frommer, M., Miller, O. J., and Macleod, D. (1985) A fraction of the mouse genome that is derived from islands of non-methylated CpG-rich DNA. Cell 40, 91–99.
  PubMed CAS Google Scholar
• Bird, A. P., Taggart, M. H., Nicholls, R. D., and Higgs, D. R. (1987) Non-methylated CpG-rich islands at the human a globin locus: implications for evolution of the a-globin pseudogene. EMBO J. 6, 999–1004.
  PubMed CAS Google Scholar
• Bonetta, L., Kuehn, S. E., Huang, A., Law, D. J., Kalikin, L. M., Koi, M., Reeve, A. E., Brownstein, B. H., Yeger, H., Williams, B. R. G., and Feinberg, A. P. (1990) Wilms tumor locus on 1 lpl3 defined by multiple CpG island-associated transcripts. Science 250, 994–997.
  PubMed CAS Google Scholar
• Borrello, M. G., Pierotti, M. A., Bongarzone, I., Donghi, R., Mondellini, P., and Porta, G. D. (1987) DNA methylation affecting the transforming activity of the human Ha-ras oncogene. Cancer Res. 47, 75–79.
  PubMed CAS Google Scholar
• Bressac, B., Kew, M., Wands, T., and Ozturk, M. (1991) Selective G to T mutations of p53 gene in hepatocellular carcinoma from southern Africa. Nature 350, 429–431.
  PubMed CAS Google Scholar
• Brown, T. C., and Jiricny, J. (1988) Different base/base mispairs are corrected with different efficiencies and specificities in monkey kidney cells. Cell 54, 705 — 711.
  PubMed CAS Google Scholar
• Busslinger, M., Hurst, J., and Flavell, R. A. (1983) DNA methylation and the regulation of globin gene expression. Cell 34, 197–206.
  PubMed CAS Google Scholar
• Call, K. M., Glaser, T., Ito, C. Y., Buckler, A. J., Pelletier, J., Haber, D. A., Rose, E. A., Krai, A., Yeger, H., Lewis, W. H., Jones, C., and Housman, D. E. (1990) Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms’ tumor locus. Cell 60, 509–520.
  PubMed CAS Google Scholar
• Carr, B. I., Reilly, J. G., Smith, S. S., Winberg, C., and Riggs, A. (1984) the tumorigenicity of 5-azacytidine in the male fischer rat. Carcinogenesis 5, 1583–1590.
  Google Scholar
• Casson, A. G., Mukhopadhyay, T., Cleary, K. R., Ro, J. Y., Levin, B., and Roth, J. A. (1991) p53 Gene mutations in Barrett’s epithelium and esophageal cancer. Cancer Res. 51, 4495–4499.
  Google Scholar
• Cheng, J., and Haas, M. (1990) Frequent mutations in the p53 tumor suppressor gene in human leukemia T-cell lines. Mol. Cell. Biol. 10, 5502–5509.
  PubMed CAS Google Scholar
• Chiba, F., Takahashi, T., Nav, M. M., D’Amico, D., Curiel, D. T., Mitsudomi, T., Buchhagen, D. L., Carbone, D., Piantadosi, S., Koga, H., Reissman, P. T., Slamon, D. J., Holmes, E. G., and Minna, J. D. (1990) Mutations in the p53 gene are frequent in primary, resected non-small cell lung cancer. Oncogene 5, 1603–1610.
  PubMed CAS Google Scholar
• Compere, S. J., and Palmiter, R. D. (1981) DNA methylation controls the inducibility of the mouse metallothionein-1 gene in lymphoid cells. Cell 25, 233–240.
  PubMed CAS Google Scholar
• Cooper, D. N., Taggart, M. H., and Bird, A. P. (1983) Unmethylated domains in vertebrate DNA. Nucl. Acids Res. 11, 647–658.
  PubMed CAS Google Scholar
• Cooper, D. N., and Schmidtke, J. (1984) DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum. Genet. 66, 1–16.
  PubMed CAS Google Scholar
• Cooper, D. N., Gerber-Huber, S., Nardelli, D., Schubiger, J. L., and Wahli, W. (1987) The distribution of the dinucleotide CpG and cytosine methylation in the vitellogenin gene family. J. Mol. Evol. 25, 107–115.
  PubMed CAS Google Scholar
• Cooper, D. N., and Youssoufian, H. (1988) The CpG dinucleotide and human genetic disease. Hum. Genet. 78, 151–155.
  PubMed CAS Google Scholar
• Cooper, D. N., and Krawczak, M. (1989) Cytosine methylation and fate of CpG dinucleotides in vertebrate genomes. Hum. Genet. 83, 181–189.
  PubMed CAS Google Scholar
• Cooper, D. N., and Krawczak, M. (1990) The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions. Hum. Genet. 85, 55–74.
  PubMed CAS Google Scholar
• Cote, R. J., Jhanwar, S. C., Novick, S., and Pellicer, A. (1991) Genetic alterations of the p53 gene are a feature of malignant mesotheliomas. Cancer Res. 51, 5410–5416,
  PubMed CAS Google Scholar
• Coulondre, C., Miller, J. H., Farabaugh, P. J., and Gilbert, W. (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274, 775–780.
  PubMed CAS Google Scholar
• Creusot, F., Acs, G., and Christman, J. K. (1982) Inhibition of DNA methyltransferase and induction of Friend erythroleukemia cell differentiation by 5-azacytidine and 5-aza-2’-de- oxycytidine, J. Biol. Chem. 257, 2041–2048.
  PubMed CAS Google Scholar
• Davidoff, A. M., Kerns, B.-J., Iglehart, D., and Marks, J. R. (1991) Maintenance of p53 alterations throughout breast cancer progression. Cancer Res. 51, 2605–2610.
  PubMed CAS Google Scholar
• De Bustros, A., Nelkin, G. D., Silverman, A., Ehrlich, G., Poiesz, B., and Baylin, S. B. (1988) The short arm of chromosome 11 is a “hotspot” for hypermethylation in human neoplasm. Proc. Natl. Acad. Sci. USA 85, 5693–5697.
  PubMed Google Scholar
• De Lange, T., Shive, L., Myers, R. M., Cox, D. R., Naylor, S. L., Killery, A. M., and Varmus, H. E. (1990) Structure and variability of human chromosome ends. Mol. Cell. Biol. 10, 518–527.
  PubMed Google Scholar
• Driscoll, D. J., and Migeon, B. R. (1990) Sex difference in methylation of single-copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations. Somat. Cell. Mol. Genet. 16, 267–282.
  PubMed CAS Google Scholar
• Duncan, B. K., and Miller, J. H. (1980) Mutagenic deamination of cytosine residues in DNA. Nature 287, 560–561.
  PubMed CAS Google Scholar
• Ehrlich, M., and Wang, R. V.-H. (1981) 5-methylcytosine in eukaryotic DNA. Science 212, 1350–1357.
  Google Scholar
• Ehrlich, M., Norris, K. F., Wang, R. Y.-H., Kuo, K. C., and Gehrke, C. W. (1986) DNA cytosine methylation and heat-induced deamination. Biosci. Rep. 6, 387–393.
  PubMed CAS Google Scholar
• El-Deiry, W. S., Nelkin, B. D., Celano, P., Yen, R.-W. C., Falco, J. P., Hamilton, S. R., and Baylin, S. B. (1991) High expression of the DNA methyltransferase gene characterizes human neoplastic and progression stages of colon cancer. Proc. Natl. Acad. Sei. USA 88, 3470–3474.
  CAS Google Scholar
• Farrell, P. J., Allan, G. J., Shanahan, F., Vousden, K. H., and Crook, T. (1991) p53 is frequently mutated in Burkitt’s lymphoma cell lines. EMBO J. 10, 2879–2887.
  Google Scholar
• Fearon, E. R., Cho, K. R., Nigro, J. M., Kern, S. E., Simons, J. W., Ruppert, J. M., Hamilton, S. R., Presinger, A. C., Thomas, G., Kinzler, K. W., and Voglelstein, B. (1990) Identification of a chromosome 18q gene that is altered in colorectal cancers. Science 247, 49–56.
  PubMed CAS Google Scholar
• Feinberg, A. P., and Volgelstein, B. (1983) Hypomethylation distinguishes genes of some human cancers from their normal counterparts. Nature 301, 89–92.
  PubMed CAS Google Scholar
• Feinberg, A. P., Gehrke, C. W., Kuo, K. C., and Ehrlich, M. (1988) Reduced genomic 5-methylcytosine content in human colonic neoplasia. Cancer Res. 48, 1159–1161.
  PubMed CAS Google Scholar
• Foster, P. L., Eisenstadt, E., and Miller, J. N. (1983) Base substitution mutations induced by metabolically activated aflatoxin B,. Proc. Natl. Acad. Sei. USA 80, 2695–2698.
  CAS Google Scholar
• Frederico, L. A., Kunkel, T. A., and Shaw, B. R. (1990) A sensitive genetic assay for the detection of cytosine deamination: Determination of rate constants and the activation energy. Biochemistry 29, 2532–2537.
  PubMed CAS Google Scholar
• Friend, S. H., Bernards, R., Rogeli, S., Weinberg, R. A., Rappaport, J. M., Albert, D. M., and Dryja, T. P. (1986) A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 323, 16–22.
  Google Scholar
• Frost, P., and Kerbel, R. S. (1983) On a possible epigenetic mechanism(s) of tumor cell heterogeneity: The role of DNA methylation. Cancer Metastasis Rev. 2, 375–378.
  PubMed CAS Google Scholar
• Fung, Y. K., Murphree, A. L., T’ang, A., Qian, J., Hinrichs, S. H., and Benedict. W. F. (1987) Structural evidence for the authenticity of the human retinoblastoma gene. Science 236, 1657–1661.
  PubMed CAS Google Scholar
• Gaidano, G., Ballerini, P., Gong, J. Z., Inghirami, G., Neri, A., Newcomb, E. W., Magrath, I. T., Knowles, D. M., and Dalla-Favera, R. (1991) p53 mutations in human lymphoid malignancies: association with Burkitt lymphoma and chronic lymphocytic leukemia. Proc. Natl. Acad. Sei. USA 88, 5513–5417.
  Google Scholar
• Gama-Sosa, M. A., Slagel, V. A., Trewyn, R. W., Oxenhandler, R., Kuo, K., Gehrke, W., and Ehrlich, M. (1983) The 5-methylcytosine content of DNA from human tumors. Nucl. Acids Res. 11, 6883–6894.
  PubMed CAS Google Scholar
• Gardiner-Garden, M., and Frommer, M. (1987) CpG islands in vertebrate genomes. J. Mol. Biol. 196, 261–282.
  PubMed CAS Google Scholar
• Gessler, M., Poustka, A., Cavence, W., Neve, R. L., Orkin, S. H., and Bruns, G. A. (1990) Homozygous deletion in Wilms tumors of a zinc-finger gene identified by chromosome jumping. Nature 343, 774–778.
  PubMed CAS Google Scholar
• Ghazi, H., Magewu, A. N., Gonzales, F., and Jones, P. A. (1990) Changes in the allelic methylation patterns c-H-ras-1, insulin and retinoblastoma genes in human development. Development Supplement, 115–123.
  Google Scholar
• Goelz, S. E., Volgelstein, B., Hamilton, S. R., and Feinberg, A. P. (1985) Hypomethylation of DNA from benign and malignant human colon neoplasms. Science 228, 187–190.
  PubMed CAS Google Scholar
• Gounari, F., Banks, G., Khazaie, K., Jeggo, P., and Holliday, R. (1987) Gene reactivation: A tool for the isolation of mammalian DNA methylation mutants. Genes Dev. 1, 899–912.
  PubMed CAS Google Scholar
• Greger, V., Passarge, E., Hopping, W., Messmer, E., and Horsthemke, B. (1989) Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma. Hum. Genet. 83, 155–158.
  PubMed CAS Google Scholar
• Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Albertsen, H., Joslyn, G., Stevens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., McPhearson, J., Wasmuth, J., Le Paslier, D., Abderrahim, H., Cohen, D., Leppart, M., and White, R. (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66, 589–600.
  PubMed CAS Google Scholar
• Gusterson, B. A., Anbazhagan, R., Warren, W., Midgely, C., Lane, D. P., O’Hare, M., Stamps. A., Carter, R., and Jayatilake, H. (1991) Expression of p53 in premalignant and malignant squamous epithelium. Oncogene 6, 1785–1789.
  CAS Google Scholar
• Harris, M. (1982) Induction of thymidine kinase in enzyme-deficient Chinese hamster cells. Cell 29, 483–492.
  PubMed CAS Google Scholar
• Hensel, C. H., Xiang, R. H., Sakaguchi, A. Y., and Naylor, S. L. (1991) Use of the single strand conformation polymorphism technique and PCR to detect p53 gene mutations in small cell lung cancer. Oncogene 6, 1067–1071.
  PubMed CAS Google Scholar
• Holliday, R. (1979) A new theory of carcinogenesis. Br. J. Can. 40; 513–522.
  CAS Google Scholar
• Holliday, R., and Jeggo, P. A. (1985) Mechanisms for changing gene expression and their possible relationship to carcinogenesis. Cancer Surveys 4, 554–581.
  Google Scholar
• Holliday, R., and Pugh, J. E. (1975) DNA modification mechanisms and gene activity during development. Science 187, 226–232.
  PubMed CAS Google Scholar
• Hollstein, M. C., Metcalf, R. A., Welsh, J. A., Montesano, R., and Harris, C. C. (1990) Frequent mutation of the p53 gene in human esophageal cancer. Proc. Natl. Acad. Sci. USA 87, 9958–9961.
  PubMed CAS Google Scholar
• Hollstein, M. C., Peri, L., Mandard, A. ML, Welsh, J. A., Montesano, R., Metcalf, R. A., Bak, M., and Harris, C. C. (1991a) Genetic analysis of human esophageal tumors from two high incidence geographic areas: frequent p53 base substitutions and absence of ras mutations. Cancer Res. 51, 4102–4106.
  PubMed CAS Google Scholar
• Hollstein, M., Sidransky, D., Volgelstein, B., and Harris, C. C. (1991b) p53 mutations in human cancers. Science 253, 49 — 53.
  Google Scholar
• Hsu, I. C., Metcalf, R. A., Sun, T., Welsh, J. A., Wang, N. J., and Harris, C. C. (1991) Mutational hotspot in the p53 gene in human hepatocellular carcinomas. Nature 350, 427–428.
  PubMed CAS Google Scholar
• Iggo, R., Gatter, K., Bartek, J., Lane, D., and Harris, A. L. (1990) Increased expression of mutant forms of p53 oncogene in primary lung cancer. Lancet 335, 675–679.
  PubMed CAS Google Scholar
• Ishioka, C., Sato, T., Gamoh, M., Suzuki, T., Shibata, H., Kanamaru, R., Wakul, A., and Yamazaki, T. (1991) Mutations of the p53 gene, including an intronic point mutation, in colorectal tumors. Biochem. Biophys. Res. Comm. 177, 901–906.
  PubMed CAS Google Scholar
• Issacs, W. B., Carter, B. S., and Ewing, C. M. (1991) Wild-type p53 suppresses growth of human prostate cancer cells containing mutant p53 alleles. Cancer Res. 51, 4716–4720.
  Google Scholar
• Jiricny, J., Hughes, M., Corman, N., and Rudkin, B. B. (1988) A human 200-kDa protein binds selectivity to DNA fragments containing G-T mismatches. Proc. Natl. Acad. Sci. USA 85, 8860–8864.
  PubMed CAS Google Scholar
• Jones, P. A., and Taylor, S. M. (1981) Hemimethylated duplex DNAs prepared from 5-azacytidine treated cells. Nucl. Acids Res. 9, 2933–2947.
  PubMed CAS Google Scholar
• Jones, P. A., and Buckley, J. D. (1990a) The role of DNA methylation in cancer. Adv. Cancer Res. 54, 1–23.
  PubMed CAS Google Scholar
• Jones, P. A., Wolkowitz, M. J., Rideout III, W. M., Gonzales, F. A., Marziasz, C. M., Coetzee, G. A., and Tapscott, S. J. (1990b) De novo methylation of the MyoDl CpG island during the establishment of immortal cell lines. Proc. Natl. Acad. Sci. USA 87, 6117–6121.
  CAS Google Scholar
• Jones, P. A., Buckley, J. D., Henderson B. E., Ross, R. K., and Pike, M. C. (1991) From gene to carcinogen: a rapidly evolving field in molecular epidemiology. Cancer Res. 51, 3617–3620.
  PubMed CAS Google Scholar
• Joslyn, G., Carlson, M., Thliveris, A., Albertsen, H., Gelbert, L., Samowitz, W., Groden, J. Stevens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., McPhearson, J., Wasmuth, J., Le Paslier, D., Abderrahim, H., Cohen, D., Leppert, M., and White, R. (1991) Identification of deletion mutations and three new genes at the familial polyposis locus. Cell 66, 601–603.
  PubMed CAS Google Scholar
• Josse, J., Kaiser, A. A., and Kornberg, A. (1961) Enzymatic synthesis of deoxyribonucleic acid VII. Frequencies of nearest neighbor base-sequences in deoxyribonucleic acid. J. Biol. Chem. 236, 864–875.
  PubMed CAS Google Scholar
• Kautainien, T. L., and Jones, P. A. (1986) DNA methyltransferase levels in tumorigenic and non-tumorigenic cells in culture. J. Biol. Chem. 261, 1594–1598.
  Google Scholar
• Keshet, I., Yisraelli, J., and Cedar, H. (1985) Effect of regional DNA methylation on gene expression. Proc. Natl. Acad. Sci. USA 82, 2560–2564.
  PubMed CAS Google Scholar
• Kim, J.-H., Takahashi, T., Chiba, I., Park, J.-G., Birrer, M. J., Roh, J. K., Lee, H. D., Kim, J.-P., Minna, J. D., and Gazdar, A. F. (1991) Occurrence of p53 gene anbormalities in gastric carcinoma tumors and cell lines. J. Natl. Cancer Inst. 83, 938–943.
  PubMed CAS Google Scholar
• Kinzler, K. W., Nilbert, M. C., Li-Kuo, S., Volgelstein, B., Bryan, T. M., Levy, D. B., Smith, K. J. Preisinger, A. C., Hedge, P., McKechnie, D., Finniear, R., Markham, A., Groffen, J., Boguski, M. S., Altschul, S. F., Horii, A., Ando, H., Miyoshi, Y., Miki, Y., Nishisho, I., and Nakamura, Y. (1991) Identification of FAP locus genes from chromosome 5q21.Science 235, 661–665.
  Google Scholar
• Knudson, A. G. (1983) Model hereditary cancers of man. Prog. Nucl. Acid Res. Mol. Biol. 29, 17–25.
  CAS Google Scholar
• Kovach, J. S., McGovern, R. M., Cassady, J. D., Swanson, S. K., Wold, L. E., Volgelstein, B., and Sommer, S. S. (1991) Direct sequencing from touch preparation of human carcinomas: analysis of p53 mutations in breast carcinomas. J. Natl. Cancer Inst. 83, 1004–1009.
  PubMed CAS Google Scholar
• Kramer, B., Kramer, W., and Fritz, H. J. (1984) Different base/base mismatches are corrected with different efficiencies by the methyl-directed DNA mismatch-repair system of E. coli. Cell 38, 879–887.
  CAS Google Scholar
• Lane, D. P., and Benchimol, S. (1990) p53: oncogene or anti-oncogene? Genes Dev. 4, 1–8.
  Google Scholar
• Lee, W. H. Bookstein, R., Hong, F., Young, L. J., Shen, J. Y., and Lee, E. Y. (1987) Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science 235, 1394–1399.
  CAS Google Scholar
• Lehman, T. A., Bennet, W. P., Metcalf, R. A., Welsh, J. A., Ecker, J., Modali, R. V., Ullrich, S. Romano, J. W., Appella, E., Testa, J. R., Gerwin, B. I., and Harris, C. C. (1991) p53 mutations, ras mutations, and p53-heat shock 70 protein complexes in human lung carcinoma eel lines. Cancer Res. 51, 4090–4096.
  Google Scholar
• Lieb, M. (1987) Bacterial genes mutL, mutS, and dem participate in repair of mismatches at 5-methylcytosine sites. J. Bacteriol. 169, 5241–5246.
  PubMed CAS Google Scholar
• Lieb, M. (1991) Spontaneous mutation at a 5-methylcytosine hotspot is prevented by very short patch (VSP) mismatch repair. Genetics 128, 23–27.
  PubMed CAS Google Scholar
• Lindahl, T. (1979) DNA glycosylases, endonucleases for apurinic/apyrimidinic sites, and base excision-repair. Progr. Nucl. Acids Res. Mol. Biol. 22, 135–192.
  CAS Google Scholar
• Liteplo, R. G., and Kerbel, R. S. (1987) Reduced levels of DNA 5-methylcytosine in metastatic variants of the human melanoma cell line MeWo. Cancer Res. 47, 2265–2267.
  Google Scholar
• Lock, L. F., Melton, D. W., Caskey, C. T., and Martin, G. R. (1986) Methylation of the mouse hprt gene differs on the active and inactive X chromosomes. Mol. Cell. Biol. 6, 914–924.
  PubMed CAS Google Scholar
• Lock, L. F., Takagi, N., and Martin, G. R. (1987) Methylation of the HPRT gene on the inactive X occurs after chromosome inactivation. Cell 48, 39–46.
  PubMed CAS Google Scholar
• Lloyd, J., Brownson, C., Tweedie, S., Charlton, J., and Edwards, Y. (1987) Human muscle carbonic anhydrase: Gene structure and DNA methylation patterns in fetal and adult tissues. Genes Dev. 1, 594–602.
  PubMed CAS Google Scholar
• Malkin, D., Li, F. P., Strong, L. C., Fraumeni, J. F. J., Nelson, C. E., Kim, D. H., Kassel, J., Gryka, M. A., Bischoff, F. Z., Tainsky, M. A., and Friend, S. H. (1990) Germline p53 mutations in familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250; 1233–1238.
  PubMed CAS Google Scholar
• Marks, R., Davidoff, A. M., Kerns, B. J., Humphrey, P. A., Pence, J. C., Dodge, R. K., Clarke-Pearson, D. L., Iglehart, D., Bast, Jr., R. C., and Berchuck, A. (1991) Overexpression and mutation of p53 in epithelial ovarian cancer. Cancer Res. 51, 2979–2984.
  PubMed CAS Google Scholar
• Marziasz, C. M. (1991) Ph.D. Thesis, University of Southern California.
  Google Scholar
• Mashiyama, S., Murakami, Y., Yoshimoto, T., Sekiya, T., and Hayashi, K. (1991) Detection of p53 gene mutations in human brain tumors by single-strand conformation polymorphism analysis of polymerase chain reaction products. Oncogene 6, 1313–1318.
  PubMed CAS Google Scholar
• Mazars, R., Pujol, P., Maudelonde, T., Jeanteur, P., and Theillet, C. (1991) p53 mutations in ovarain cancer a late event? Oncogene 6, 1685–1690.
  Google Scholar
• Mazur, M., and Glickman, B. (1988) Sequence specificity of mutations induced by ben- zo(a)pyrene-7,8-diol-9,10-epoxide at endogenous APRT gene in CHO cells. Somat. Cell Mol. Genet. 14, 393–400.
  CAS Google Scholar
• McKeon, C., Ohkubo, H., Pastan, I., and de Crombrugghe, B. (1982) Unusual methylation pattern of the oc2(l) collagen gene. Cell 29, 203–210.
  CAS Google Scholar
• Menon, A. G., Anderson, K. M., Riccardi, V. M., Chung, R. Y., Whaley, J. M., Yandell, D. W., Farmer, G. E., Freiman, R. N., Lee, J. K., Li, F. P., Barker, D. F., Ledbetter, D. H., Kleider, A., Martuza, R. L., Gusella, J. F., and Seizinger, B. R. (1990) Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis. Proc. Natl. Acad. Sei. USA 87, 5435–5439.
  CAS Google Scholar
• Metzger, A. K., Sheffield, V. C., Duyk, G., Daneshvar, L., Edwards, M. S. B., and Cogen, P. H. (1991) Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma. Proc. Natl. Acad. Sei. USA 88, 7825–7829.
  CAS Google Scholar
• Mohandas, T., Sparkes, R. S., and Shapiro, L. J. (1981) Reactivation of an inactive human X-chromosome: Evidence for X-inactivation by DNA methylation. Science 211, 393–396.
  PubMed CAS Google Scholar
• Mueller, P. R., and Wold, B. (1989) In vivo footprinting of a muscle specific enhancer by ligation medicated PCR. Science 246, 780–786.
  PubMed CAS Google Scholar
• Muench, K. F., Misra, R. P., and Humayun, M. Z. (1983) Sequence specificity in aflatoxin B,-DNA interactions. Proc. Natl. Acad. Sei. USA 80, 6–10.
  CAS Google Scholar
• Mulligan, L. M., Matlashewski, G. J., Scrable, H. J., and Cavenee, W. K. (1990) Mechanisms of p53 loss in human sarcomas. Proc. Natl. Acad. Sei. USA 87, 5863–5867.
  CAS Google Scholar
• Murakami, Y., Hayashi, K., Kirohashi, S., and Sekiya, T. (1991) Aberrations of the tumor suppressor p53 and retinoblastoma genes in human hepatocellular carcinomas. Cancer Res. 51, 5520–5525.
  PubMed CAS Google Scholar
• Nelkin, B. D., Przepiorka, D., Burke, P. J., Thomas, E. D., and Baylin, S. B. (1991) Anbormal methylation of the calcitonin gene marks progression of chronic myelogenous leukemia. Blood 77, 2431–2434.
  PubMed CAS Google Scholar
• Nigro, J. M., Baker, S. J., Preisinger, A. C., Jessup, J. M., Hostetter, R., Cleary, K., Bigner, S. H., Davidson, N., Baylin, S., Devilee, P., Glover, T., Collins, F. S., Weston, A., Modali, R., Harris, C. C., and Volgelstein, B. (1989) Mutations in the p53 gene occur in diverse human tumour types. Nature 342, 705–708.
  PubMed CAS Google Scholar
• Nishisho, I., Nakamura, Y., Miyoshi, Y., Miki, Y., Ando, H., Horii, A., Koyama, K., Utsunomiya, J., Baba, S., Hedge, P., Markham, A., Krush, A. J., Petersen, G., Hamilton, S. R., Nilbert, M. C., Levy, D. B., Bryan, T. M., Preisinger, A. C., Smith, K. J., Su, L., Kinzler, K. W., and Volgelstein, B. (1991) Mutation of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 235, 665–669.
  Google Scholar
• Nussinov, R. (1981) Nearest neighbour nucleotide patterns; structural and biological implications. J. Biol. Chem. 256, 8458–8462.
  PubMed CAS Google Scholar
• Okamota, A., Sameshima, Y., Yamada, Y., Teshima, S.-I., Terashima, Y., Terada, M., and Yokota, J. (1991) Allelic loss on chromosome 17p and p53 mutations in human endometrial carcinoma of the uterus. Cancer Res. 51, 5632–5636.
  Google Scholar
• Olumi, A. F., Tsai, Y. C., Nichols, P. W., Skinner, D. G„ Cain, D. R., Bender, L. I., and Jones, P. A. (1990) Allelic loss of chromosome 17p distinguishes high grade from low grade transitional cell carcinomas of the bladder. Cancer Res. 50, 7081–7083.
  PubMed CAS Google Scholar
• Osborne, R. J., Merlo, G. R., Mitsudomi, T., Venesio, T., Liscia, D. S., Cappa, A. P. M., Chiba, I., Takahashi, T., Nau, M. M., Callahan, R., and Minna, J. D. (1991) Mutation in the p53 gene in primary human breast cancer. Cancer Res. 51, 6194–6198.
  PubMed CAS Google Scholar
• Ozturk, M., and collaborators (1991) p53 mutation in hepatocellular carcinoma after aflatoxin exposure. Lancet 338, 1356–1359.
  Google Scholar
• Pfeifer, G. P., Steigerwald, S., Boehm, T. L. J., and Drahovsky, D. (1988) DNA methylation levels in acute human leukemia. Cancer Lett. 39, 185–192.
  PubMed CAS Google Scholar
• Pfeifer, G. P., Tanguay, R. L., Steigerwald, S. D., and Riggs, A. D. (1990) In vivo footprint and methylation analysis by PCR-aided genomic sequencing: Comparison of active and inactive X chromosomal DNA at the CpG island and promoter of human PGK-1. Genes Dev. 4, 1277–1287.
  PubMed CAS Google Scholar
• Prosser, J., Thompson, A. M., Cranston, G., and Evans, H. J. (1990) Evidence that p53 behaves as a tumor suppressor gene in sporadic breast tumours. Oncogene 5, 1573–1579.
  PubMed CAS Google Scholar
• Pugh, J. E., and Holliday, R. (1978) Do chemical carcinogens act by altering epigenetic controls through DNA repair rather than by mutations? Heredity 40, 329 (Abstract).
  Google Scholar
• Puisieux, A., Lim, S., Groopman, J., and Ozturk, M. (1991) Selective targeting of p53 gene mutational hotspots in human cancers by etiologically defined carcinogens. Cancer Res. 51, 6185–6189.
  PubMed CAS Google Scholar
• Rachal, M. J., Yoo, H., Becker, F. F., and Lapeyre, J.-N. (1989) In vitro DNA cytosine methylation of cis-regulatory elements modulates c-Ha-ras promoter activity in vivo. Nucl. Acids Res. 17, 5135.
  PubMed CAS Google Scholar
• Radman, M., and Wagner, R. (1986) Mismatch repair in Escherichia coli. Annu. Rev. Gen. 20, 523–538.
  CAS Google Scholar
• Raycroft, L., Schmidt, J. R., Yoas, K., Hao, M., and Lozano, G. (1991) Analysis of p53 mutants for transcriptional activity. Mol. Cell. Biol. 11, 6067–6074.
  PubMed CAS Google Scholar
• Rideout, III, W. M., Coetzee, G. A., Olumi, A. F., and Jones, P. A. (1990) 5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes. Science 249, 1288–1290.
  Google Scholar
• Riggs, A. D. (1975) X inactivation, differentiation, and DNA methylation. Cytogenet. Cell Genet. 14, 9–25.
  PubMed CAS Google Scholar
• Riggs, A. D., and Jones, P. A. (1983) 5-Methylcytosine, gene regulation and cancer. Advances in Cancer Res. 40, 1–30.
  Google Scholar
• Rodrigues, N. R., Rowan, A., Smith, M. E. F., Kerr, I. B., Bodmer, W. F., Gannon, J. V., and Lane, D. P. (1990) p53 mutations in colorectal cancer. Proc. Natl. Acad. Sci. USA 87, 7555–7559.
  Google Scholar
• Romano, J. W., Ehrhart, J. C., Duthr, A., Kim, C. M., Appella, E., and May, P. (1989) Identification and characterization of a p53 gene mutation in a human osteosarcoma cell line. Oncogene 4, 1483–1488.
  PubMed CAS Google Scholar
• Russell, G. J., Walker, P. M. B., Elton, R. A., and Subak-Sharpe, J. H. (1976) Doublet frequency analysis of fractionated vertebrate nuclear DNA. J. Mol. Biol. 108, 1–23.
  PubMed CAS Google Scholar
• Sameshima, Y., Akiyama, T., Mon, N., Mizoguchi, H., Toyoshima, K., Sugimura, T., Terada, M., and Yokota, J., (1990) Point mutation of the p53 gene resulting in splicing inhalation in small cell lung carcinoma. Biochem. Biophys. Res. Comm. 173, 697–703.
  CAS Google Scholar
• Savatier, P., Trabuchet, G., Faure, C., Chebloure, Y., Gouy, M., Verdier, G., and Nigon, V. M. (1985) Evolution of the primate beta-globin gene region. High rate of variation in CpG dinucleotides and in short repeated sequences between man and chimpanzee. J. Mol. Biol. 182, 21–29.
  PubMed CAS Google Scholar
• Saxon, P. J., Srivatsan, E. S., and Stanbridge, E. J. (1986) Introduction of human chromosome 11 via microcell transfer controls tumorigenic expression HeLa cells. EMBO J. 5, 3461–3466.
  PubMed CAS Google Scholar
• Saylors, R. L., Ill, Sidransky, P., Friedman, H. S., Bigner, D. D., Volgelstein, B., and Brodeur, ‘G. M. (1991) Infrequent p53 gene mutations in medulloblastomas. Cancer Res. 51, 4721–4723.
  Google Scholar
• Scarano, E. (1971) The control of gene function in cell differentiation and in embryogenesis. Adv. Cytopharmacol. 7, 13.
  Google Scholar
• Scheffner, M., Munger, K., Byrne, J. C., and Howley, P. M. (1991) The state of the p53 and retinoblastoma genes in human cervical carcinoma cell lines. Proc. Natl. Acad. Sci. USA 88, 5523–5527.
  PubMed CAS Google Scholar
• Shenoy, S., Ehrlich, K. C., and Ehrlich, M. (1987) Repair of thymine-guanine mismatched base-pairs in bacteriophage M13mpl8 DNA heteroduplexes. J. Mol. Biol. 197617–626.
  Google Scholar
• Shmookler-Reis, R. J., and Goldstein, S. (1982) Interclonal variation in methylation patterns for expressed and non-expressed genes. Nucl. Acids Res. 10, 4293–4304.
  PubMed CAS Google Scholar
• Sidransky, D., Von Eschenbach, A., Tsai, Y. C., Jones, P., Summerhayes, I., Marshall, F., Paul, M., Green, P., Hamilton, S. R., Frost, P., and Volgelstein, B. (1991) Identification of p53 gene mutations in bladder cancers and urine samples. Science 252, 706–709.
  PubMed CAS Google Scholar
• Silverman, A. L., Park, J.-G., Hamilton, S. R., Gazdar, A. F., Luk, G. D., and Baylin, S. B. (1989) Abnormal methylation of the calcitonin gene in human colonic neoplasms. Cancer Res. 49, 3468–3473.
  PubMed CAS Google Scholar
• Slingerland, J. M., Minden, M. D., and Benchimol. S. (1991) Mutation of the p53 gene in human acute myelogenous leukemia. Blood 77, 1500–1507.
  PubMed CAS Google Scholar
• Sneller, M. C., and Gunter, K. C. (1987) DNA methylation alters chromatin structure and regulates Thy-1 expression in EL-4T cells. Immunology 138, 3505–3512.
  CAS Google Scholar
• Spanopoulou, E., Giguere, V., and Grosveld, F. (1988) Transcriptional unit of the murine Thy-1 gene: Different distribution of transcription initiation sites in brain. Mol. Cell. Biol. 8, 3847–3856.
  PubMed CAS Google Scholar
• Srivastava, S., Zou, Z. Q., Pirollo, K., Blatner, W., and Chang, E. H. (1990) Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature 348, 20–27.
  Google Scholar
• Stratton, M. R., Moss, S., Warren, W., Patterson, H., Clark, J., Fisher, C., Fletcher, C. D. M., Ball, A., Thomas, M., Gusterson, B. A., and Cooper, C. S. (1990) Mutation of the p53 gene in human soft tissue sarcomas: association with abnormalities of the RBI gene. Oncogene 5, 1297–1301.
  PubMed CAS Google Scholar
• Sved, J., and Bird, A. (1990) The expected equilibrium of the CpG dinucleotide in vertebrate genomes under a mutation model. Proc. Natl. Acad. Sci. USA 87, 4692–4696.
  PubMed CAS Google Scholar
• Swartz, M. N., Trautner, T. A., and Kornberg, A. (1962) Enzymatic synthesis of deoxyribonucleic acid. J. Biol. Chem. 237, 1961–1967.
  PubMed CAS Google Scholar
• Takahashi, T., Takahashi T., Suzuki, H., Hida, T., Sekido, Y., Ariyoshi, Y., and Ueda, R. (1991) The p53 gene is very frequently mutated in small-cell lung cancer with a distinct nucleotide substitution pattern. Oncogene 6, 1775–1778.
  PubMed CAS Google Scholar
• Tamura, G., Kihana, T., Nomura, K., Terada, M., Sugimura, T., and Hiroshasi, S. (1991) Detection of frequent p53 gene mutations in primary gastric cancer by cell sorting and polymerase chain reaction single-strand conformation polymorphism analysis. Cancer Res. 51, 3056–3058.
  PubMed CAS Google Scholar
• Taylor, S. M., and Jones, P. A. (1982) Changes in phenotypic expression in embryonic and adult cells treated with 5-azacytidine. J. Cell. Physiol., 187–194.
  Google Scholar
• Toniolo, D., Martini, G., Migeon, B. R., and Dono, R. (1988) Expression of the GGPD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 Kb of DNA. EMBO J. 1, 401–406.
  Google Scholar
• Toth, M., Lichtenberg, V., and Doerfler, W. (1989) Genomic sequencing reveals a 5-methylcy- tosine-free domain in active promoters and the spreading of preimposed methylation patterns. Proc. Natl. Acad. Sci. USA 86, 3728–3732.
  PubMed CAS Google Scholar
• Tykocinski, M., and Max, E. (1984) CG clusters in MHC genes and 51/2 demethylated genes. Nucl. Acids Res. 12, 4385–4396.
  PubMed CAS Google Scholar
• Venolia, L., Gartler, S. M., Wassman, E. R., Yen, P., Mohandas, T., and Shapiro, L. J. (1982) Transformation with DNA from 5-azacytidine-reactivated X chromosomes. Proc. Natl. Acad. Sci. USA 79, 2352–2354.
  PubMed CAS Google Scholar
• Volgelstein, B. (1990) Cancer. A deadly inheritance. Nature 348, 681–682.
  Google Scholar
• Weissman, B. E., Saxon, P. J., Pasquale, S. R., Jones, G. R., Geiser, A. G., and Stanbridge, E. J. (1987) Introduction of a normal human chromosome 11 into a Wilms tumor cell line controls its tumorigenic expression. Science 236, 175–180.
  PubMed CAS Google Scholar
• Wiebauer, K., and Jiricny, J. (1989) In vitro correction of G T mispairs to G C pairs in nuclear extracts from human cells. Nature 339, 234–236.
  PubMed CAS Google Scholar
• Wilson, V. L., and Jones, P. A. (1983a) DNA methylation decreases in aging but not in immortal cells. Science 220, 1055–1057.
  PubMed CAS Google Scholar
• Wilson, V. L., and Jones, P. A. (1983b) Inhibition of DNA methylation by chemical carcinogens in vitro. Cell 32, 239–246.
  PubMed CAS Google Scholar
• Wink, D. A., Kasprzak, K. S., Maragos, C. M., Elespuru, R. K., Misra, M., Dunams, T. M., Cebula, T. A., Koch, W. H., Andrews, A. W., Allen, J. S„ and Keefer, L. K. (1991) DNA deaminating ability and genotoxicity of nitric oxide and its progenitors. Science 254, 1001–1003.
  PubMed CAS Google Scholar
• Wise, T. L., and Harris M. (1988) Deletion and hypermethylation of thymidine kinase gene in V79 Chinese hamster cells resistant to bromodeoxyuridine. Somat. Cell. Mol. Genet. 14, 567–581.
  PubMed CAS Google Scholar
• Wolf, S. F., and Migeon, B. R. (1985) Clusters of CpG dinucleotides implicated by nuclease hypersensitivity as control elements of housekeeping genes. Nature 314, 467–469.
  PubMed CAS Google Scholar
• Wright, P. A., Lemoine, N. R., Govetzki, P. E., Wyllie, F. S„ Bond, J., Hughes, C, Roher, H.-D., Williams, E. D., and Winford-Thomas, D. (1991) Mutation of the p53 gene in a differentiated human thyroid carcinoma cell line, but not in primary thyroid tumours. Oncogene 6, 1693–1697.
  CAS Google Scholar
• Xu, G. F., O’Connell, P., Viskochil, D., Cawthon, R., Robertson, M., Culver, M., Dunn, D., Stevens, J., Gesteland, R, White, R., and Weiss, R. (1990) The neurofibromatosus type I gene encodes a protein related to GAP. Cell 62, 599 — 608.
  PubMed CAS Google Scholar
• Yaginuma, Y., and Westphal, H. (1991) Analysis of the p53 gene in human uterine carcinoma cell lines. Cancer Res. 51, 6506–6509.
  PubMed CAS Google Scholar
• Yamada, Y., Yoshida, T., Hayashi, K., Sekiya, T., Yokota, J., Hirohashi, S., Nakatami, K., Nakano, H., Sugimura, T., and Terada, M. (1991) p53 gene mutations in gastric cancer metastases and in gastric cancer cell lines derived from metastases. Cancer Res. 51, 5800–5805.
  Google Scholar
• Yandell, D. W., Campbell, T. A., Dayton, S. H., Petersen, R., Walton, D„ Little, J. B., McConkie, R. A., Buckley, E. G., and Dryja, T. P. (1989) Oncogenic point mutations in the human retinoblastoma gene: their application at genetic counseling. N. Engl. J. Med. 321, 1689–1695.
  PubMed CAS Google Scholar

Download references