Association between CpG island methylation and microsatellite instability in colorectal cancer

Cancer Research

Volumn 57, Issue 16, 1997, Pages 3370-3374

  Ahuja, Nita ^a,b   Mohan, Avinash L ^a   Li, Qing ^a   Stolker, Joshua M ^b   Herman, James G ^a   Hamilton, Stanley R ^a,b   Baylin, Stephen B ^a,b   Issa, Jean Pierre J ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; SOMATOMEDIN B; THROMBOSPONDIN;

ARTICLE; BASE MISPAIRING; CARCINOGENESIS; CHROMATIN STRUCTURE; COLORECTAL CANCER; DNA METHYLATION; DNA REPAIR; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; HUMAN TISSUE; PRIORITY JOURNAL; PROMOTER REGION; SOUTHERN BLOTTING; TRANSCRIPTION REGULATION;

CARRIER PROTEINS; COLORECTAL NEOPLASMS; CPG ISLANDS; CYCLIN-DEPENDENT KINASE INHIBITOR P16; DNA METHYLATION; HUMANS; MEMBRANE GLYCOPROTEINS; MICROSATELLITE REPEATS; PROMOTER REGIONS (GENETICS); THROMBOSPONDINS;

EID: 0030812206     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Bird, A. P. CpG-rich islands and the function of DNA methylation. Nature (Lond.), 321: 209-213, 1986.
2. Eden, S., and Cedar, H. Role of DNA methylation in the regulation of transcription. Curr. Opin. Genet. Dev., 4: 255-259, 1994.
3. Rastan, S. X chromosome inactivation and the Xist gene. Curr. Opin. Genet. Dev., 4: 292-297, 1994.
4. Razin, A., and Cedar, H. DNA methylation and genomic imprinting. Cell, 77: 473-476, 1994.
5. Counts, J. L., and Goodman. J. I. Alterations in DNA methylation may play a variety of roles in carcinogenesis. Cell, 83: 13-15, 1995.
6. Spruck, C. H., Rideout, W. M., and Jones, P. A. DNA methylation and cancer. Exper. Suppl. (Basel), 64: 487-509, 1993.
7. Issa, J-P. J., Ottaviano, Y. L., Celano, P., Hamilton, S. R., Davidson, N. E., and Baylin, S. B. Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nat. Genet., 7: 536-540, 1994.
8. Issa, J-P. J., Vertino, P. M., Boehm, C. D., Newsham, I. F., and Baylin, S. B. Switch from mono-allelic to bi-allelic human IGF2 promoter methylation during aging and carcinogenesis. Proc. Natl. Acad. Sci. USA, 93: 11757-11762, 1996.
9. 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. Hum. Genet., 48: 880-888, 1991.
10. Herman, J. G., Merlo, A., Mao, L., Lapidus, R. G., Issa, J. P., 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.
11. Gonzalez-Zulueta, M., Bender, C. M., Yang, A. S., Nguyen, T., Beart, R. W., Van Tornout, J. M., and Jones, P. A. Methylation of the 5′ CpG island of the p16/CDKN2 tumor suppressor gene in normal and transformed human tissues correlates with gene silencing. Cancer Res., 55: 4531-4535, 1995.
12. Herman, J. G. Latif, F., Weng, Y., Lerman, M. I., Zbar, B., Liu, S., Samid, D., Duan, D. S., Gnarra, J. R., Linehan, W. M., and Baylin, S. B. Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc. Natl. Acad. Sci. USA, 91: 9700-9704, 1994.
13. Ionov, Y., Peinado, M. A., Malkhosyan, S., Shibata, D., and Perucho, M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature (Lond.), 363: 558-561, 1993.
14. Thibodeau, S. N., Bren, G., and Schaid, D. Microsatellite instability in cancer of the proximal colon. Science (Washington DC). 260: 816-819, 1993.
15. Aaltonen, L. A., Peltomaki, P., Leach, F. S., Sistonen, P., Pylkkanen, L., Mecklin, J. P., Jarvinen, H., Powell, S. M., Jen, J., Hamilton, S. R., Petersen, G. M., Kinzler, K. W., Vogelstein, B., and de la Chapelle, A. Clues to the pathogenesis of familial colorectal cancer. Science (Washington DC), 260: 812-816, 1993.
16. Kinzler, K. W., and Vogelstein, B. Lessons form hereditary colorectal cancer. Cell, 87: 159-170, 1996.
17. Liu, B., Nicolaides, N. C., Markowitz, S., Willson, J. K. V., Parsons, R. E., Jen. J., Papadopolous, N., Peltomaki, P., de la Chapelle, A., Hamilton, S. R., Kinzler, K. W., and Vogelstein, B. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat. Genet., 9: 48-55, 1995.
18. Thibodeau, S. N., French, A. J., Roche, P. C., Cunningham, J. M., Tester, D. J., Lindor, N. M., Moslein, G., Baker, S. M., Liskay, R. M., Burgart, L. J., Honchel, R., and Halling, K. C. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res., 56: 4836-4840, 1996.
19. Markowitz, S., Wang, J., Myeroff, L., Parsons, R., Sun, L., Lutterbaugh, J., Fan, R. S., Zborowska, E., Kinzler, K. W., Vogelstein, B., Brattain, M., and Willson, J. K. V. Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science (Washington DC), 268: 1336-1338, 1995.
20. Kim, H., Jen, J., Vogelstein, B., and Hamilton, S. R. Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am. J. Pathol., 145: 148-156, 1994.
21. Lengauer, C., Kinzler, K. W., and Vogelstein, B. DNA methylation and genetic instability in colorectal cancer cells. Proc. Natl. Acad. Sci. USA, 94: 2545-2550, 1997.
22. Jen, J., Kim, H., Piantadosi, S., Liu, Z. F., Levitt, R. C., Sistonen, P., Kinzler, K. W., Vogelstein, B., and Hamilton, S. R. Allelic loss of chromosome 18q and prognosis in colorectal cancer. N. Engl. J. Med., 331: 213-221, 1994.
23. Hoang, J-M., Cottu, P. H., Thuille, B., Salmon, R. J., Thomas, G., and Hamelin, R. BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res., 57: 300-303, 1997.
24. Makos, M., Nelkin, B. D., Lerman, M. I., Latif, F., Zbar, B., and Baylin, S. B. Distinct hypermethylation patterns occur at altered chromosome loci in human lung and colon cancer. Proc. Natl. Acad. Sci. USA, 89: 1929-1933, 1992.
25. Dameron, K. M., Volpert, O. V., Tainsky, M. A., and Bouck, N. Control of angiogenesis in fibroblasts by p53 regulation of thrombospondin-1. Science (Washington DC), 265: 1582-1584, 1994.
26. Sheibani, N., and Frazier, W. A. Thrombospondin 1 expression in transformed endothelial cells restores a normal phenotype and suppresses their tumorigenesis. Proc. Natl. Acad. Sci. USA, 92: 6788-6792, 1995.
27. Wales, M. M., Biel, M. A., el Diery, W., Nelkin, B. D., Issa, J. P., Cavenee, W. K., Kuerbitz, S. J., and Baylin, S. B. p53 activates expression of HIC-1, a new candidate tumour suppressor gene on 17p13.3. Nat. Med., 1: 570-577, 1995.
28. Baylin, S. B., Herman, J. G., Graff, J. R., Vertino, P. M., and Issa, J-P. J. Alterations in DNA methylation: a fundamental aspect of neoplasia. Adv. Cancer Res., in press, 1997.
29. Issa, J. P., Vertino, P. M., Wu, J., Sazawal, S., Celano, P., Nelkin, B. D., Hamilton, S. R., and Baylin, S. B. Increased cytosine DNA-methyltransferase activity during colon cancer progression. J. Natl. Cancer Inst., 85: 1235-1240, 1993.
30. Issa, J. P., Baylin, S. B., and Belinsky, S. A. Methylation of the estrogen receptor CpG island in lung tumors is related to the specific type of carcinogen exposure. Cancer Res., 56: 3655-3658, 1996.
31. Lee, Y. W., Klein, C. B., Kargacin, B., Salnikow, K., Kitahara, J., Dowjat, K., Zhitkovich, A., Christie, N. T., and Costa, M. Carcinogenic nickel silences gene expression by chromatin condensation and DNA methylation: a new model for epigenetic carcinogens. Mol. Cell. Biol., 15: 2547-2557, 1995.
32. 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.
33. Yang, A. S., Shen, J. C., Zingg, J. M., Mi, S., 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.
34. Hansen, R. S., Gartler, S. M., Scott, C. R., Chen, S. H., and Laird, C. D. Methylation analysis of CGG sites in the CpG island of the human FMR 1 gene. Hum. Mol. Genet., 1: 571-578, 1992.
35. Oberle, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boue, J., Bertheas, M. F., and Mandel, J. L. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science (Washington DC), 252: 1097-1102, 1991.
36. Lahue, R. S., and Modrich, P. Methyl-directed DNA mismatch repair in Escherichia coli. Mutat. Res., 198: 37-43, 1988.
37. Hare, J. T., and Taylor, J. H. One role for DNA methylation in vertebrate cells is strand discrimination in mismatch repair. Proc. Natl. Acad. Sci. USA, 82: 7350-7354, 1985.
38. Kane, M. F., Loda, M., Gaida, G. M., Lipman, J., Mishra, R., Goldman, H., Jessup, J. M., and Kolodner, R. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res., 57: 808-811, 1997.