Impaired Regulation of Tumor Suppressor p53 Caused by Mutations in the Xeroderma Pigmentosum DDB2 Gene: Mutual Regulatory Interactions between p48 DDB2 and p53

Molecular and Cellular Biology

Volumn 23, Issue 21, 2003, Pages 7540-7553

  Itoh, Toshiki ^a   O'Shea, Cristin ^b   Linn, Stuart ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; PROTEIN P48; PROTEIN P53; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; BINDING SITE; CARCINOGENESIS; CELL CYCLE; DDB2 GENE; DNA DAMAGE; GENE; GENE CONTROL; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE MUTATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; TUMOR SUPPRESSOR GENE; ULTRAVIOLET IRRADIATION; XERODERMA PIGMENTOSUM;

APOPTOSIS; CELL LINE; DNA; DNA DAMAGE; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; GENES, TUMOR SUPPRESSOR; HUMANS; INTRONS; MUTATION; PHENOTYPE; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR PROTEIN P53; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM;

EID: 0142091500     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.23.21.7540-7553.2003     Document Type: Article

References (46)

1. Aboussekhra, A., M. Biggerstaff, M. K. K. Shivji, J. A. Vilpo, V. Monocollin, V. N. Podust, M. Protic, U. Hubscher, J.-M. Egly, and R. D. Wood. 1995, Mammalian DNA excision repair reconstituted with purified protein components. Cell 80:859-868.
2. Adams, J. M., and S. Cory. 2001. Life-or-death decisions by the Bcl-2 protein family. Trends Biochem. Sci. 26:61-66.
3. Ashcroft, M., and K. Vousden. 1999. Regulation of p53 stability. Oncogene 18:7637-7643.
4. ARF links the tumour suppressors RB and p53. Nature 395:124-125.
5. Birch, J. M., R. D. Alston, R. J. McNally, D. G. Evans, A. M. Kelsey, M. Harris, O. B. Eden, and J. M. Varley. 2001. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene 4621-4628.
6. Cassiday, L. A., and L. J. Maher III. 2002. Having it both ways: transcription factors that bind DNA and RNA. Nucleic Acids Res. 30: 4118-4126.
7. Cleaver, J. E., and K. H. Kraemer. 1995. Xeroderma pigmentosum and Cockayne syndrome, p. 4393-4419. In C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (ed.), The metabolic and molecular basis of inherited diseases. McGraw-Hill, New York, N.Y.
8. Cleaver, J. E., and E. Crowley. 2002. UV damage, DNA repair and skin carcinogenesis. Front. Biosci. 7:1024-1043.
9. de Gruijl, F. R., H. J. van Kranen, and L. H. F. Mullenders. 2001. UV-induced DNA damage, repair, mutations and oncogenic pathways in skin cancer. J. Photochem. Photobiol. 63:19-27.
10. Dualan, R., T. Brody, S. Keeney, A. F. Nichols, A. Admon, and S. Linn. 1995. Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein. Genomics 29:62-69.
11. El-Delry, W. S., T. Tokino, V. E. Velculescu, D. B. Levy, R. Parsons, J. M. Trent, D. Lin, E. Mercer, K. W. Kinzler, and B. Vogelstein. 1993. WAF1, a potential mediator of p53 tumor suppression. Cell 75:817-825.
12. Evan, G. I., and K. H. Vousden. 2001. Proliferation, cell cycle and apoptosis in cancer. Nature 411:342-348.
13. Friedberg, E. C., G. C. Walker, and W. Siede. 1995. DNA repair and mutagenesis, p. 283-316. American Society for Microbiology, Washington, D.C.
14. Friedman, P. N., S. E. Kern, B. Vogelstein, and C. Prives. 1990. Wild-type, but not mutant, human p53 proteins inhibit the replication activities of simian virus 40 large tumor antigen. Proc. Natl. Acad. Sci. USA 87:9275-9279.
15. Funk, W. D., D. T. Pak, R. H. Karas, W. E. Wright, and J. W. Shay. 1992. A transcriptionally active DNA-binding site for human p53 protein complexes. Mol. Cell. Biol. 12:2866-2871.
16. Hainaut, P., T. Hernandez, A. Robinson, P. Rodriguez-Tome, T. Flores, M. Hollstein, C. C. Harris, and R. Montesano. 1998. IARC data base of p53 gene mutations in human tumors and cell lines: updated complication, revised formats and new visualization tolls. Nucleic Acids Res. 26:205-213.
17. Hanahan, D., and R. A. Weinberg. 2000. The hallmarks of cancer. Cell 100:57-70.
18. Harper, J. W., G. R. Adami, N. Wef, K. Keyomarsi, and S. J. Elledge. 1993. The p21 Cdk interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. Cell 75:805-816.
19. Haupt, Y., R. Maya, A. Kazaz, and M. Oren. 1997. Mdm2 promotes the rapid degradation of p53. Nature 387:296-299.
20. Hickman, E. S., M. C. Moroni, and K. Helin. 2002. The role of p53 and pRB in apoptosis and cancer. Curr. Opin. Genet. Dev. 12:60-66.
21. Honda, R., H. Tanaka, and H. Yasuda. 1997. Oncoprotein MDM2 is aubiquitin ligase E3 for tumor suppressor p53. FEBS Lett. 420:25-27.
22. Hwang, B. J., J. M. Ford, P. C. Hanawalt, and G. Chu. 1999. Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair. Proc. Natl. Acad. Sci. USA 96:424-428.
23. Igney, F. H., and P. H. Krammer. 2002. Death and anti-death: tumour resistance to apoptosis. Nat. Rev. Cancer 2:277-287.
24. Itoh, T., T. Mori, H. Ohkubo, and M. Yamaizumi. 1999. A newly identified patient with clinical xeroderma pigmentosum phenotype has a nonsense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts. J. Investig. Dermatol. 113:251-257.
25. s syndrome: establishment and characterization of fibroblastic cell lines transformed with simian virus 40 DNA. J. Investig. Dermatol. 114:101-106.
26. Itoh, T., S. Linn, T. Ono, and M. Yamaizumi. 2000. Reinvestigation of the classification of five cell strains of xeroderma pigmentosum group E with reclassification of three of them. J. Investig. Dermatol. 114:1022-1029.
27. Itoh, T., A. Nichols, and S. Linn. 2001. Abnormal regulation of DDB2 expression in xeroderma pigmentosum group E strains. Oncogene 20:7041-7050.
28. Kannan, K., N. Amariglio, G. Rechavi, and D. Givol. 2000. Profile of gene expression regulated by induced by p53: connection to the TGF-Β family. FEBS Lett. 470:77-82.
29. Kubbutat, M. H. G., S. N. Jones, and K. H. Vousden. 1997. Regulation of p53 stability by mdms. Nature 387:299-303.
30. Lakin, N. D., and S. P. Jackson. 1999. Regulation of p53 in response to DNA damage. Oncogene 18:7644-7655.
31. Lustbader, E. D., W. R. Williams, M. L. Bondy, S. Strom, and L. C. Strong. 1992. Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. Am. J. Hum. Genet. 51:344-356.
32. Matys V., E. Ficke, R. Geffers, E. Goßling, M. Haubrock, R. Hehl, K. Hornischer, D. Karas, A. E. Kel, O. V. Kel-Margoulis, D.-U. Kloos, S. Land, B. Lewicki-Potapov, H. Michael, R. Munch, I. Reuter, S. Rotert, H. Saxel, M. Scheer, S. Thiele, and E. Wingender. 2003. TRANSFAC: transcriptional regulation, form patterns to profiles. Nucleic Acids Res. 31:374-378.
33. Miller, S. J., T. Suthiphongchai, G. P. Zambetti, and M. E. Ewen. 2000. p53 binds selectively to the 5′untranslated region of cdk4, an RNA element necessary and sufficient for transforming growth factor Β- and p53-mediated translational inhibition of cdk4. Mol. Cell. Biol. 20:8420-8431.
34. Miyashita, T., and J. C. Reed. 1995. Tumor suppressor p53 is a direct transcriptional activator of the human bax gene. Cell 80:293-299.
35. Mu, D., C. H. Park, T. Matsunaga, D. S. Hsu, J. T. Reardon, and A. Sancar. 1995. Reconstitution of human DNA repair excision nuclease in a highly defined system. J. Biol. Chem. 270:2415-2418.
36. Nag, A., T. Bondar, S. Shiv, and P. Raychaudhuri. 2001. The xeroderma pigmentosum group E gene product DDB2 is a specific target of Cullin 4A in mammalian cells. Mol. Cell. Biol. 21:6738-6747.
37. Nichols, A. F., T. Itoh, J. A. Graham, W. Liu, M. Yamaizumi, and S. Linn. 2000. Human damage-specific DNA binding protein p48. Characterization of XPE mutations and regulation following UV irradiation. J. Biol. Chem. 272:21422-21428.
38. Oltvai, A. N., C. L. Milliman, and S. J. Korsmeyer. 1993. Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death. Cell 74:609-619.
39. Ookawa, K., T. Kudo, S. Aizawa, H. Saito, and S. Tsuchida. 2002. Transcriptional activation of the MUC2 gene by p53. J. Biol. Chem. 277: 48270-48275.
40. Oren, M. 1999. Regulation of the p53 tumor suppressor protein. J. Biol. Chem. 274:36031-36034.
41. Prives, C., and P. A. Hall. 1999. The p53 pathway. J. Pathol. 187:112-126.
42. Shiyanov, P., S. A. Hayes, M. Donepudi, A. F. Nichols, S. Linn, B. L. Siagle, and P. Raychaudhuri. 1999. The naturally occurring mutants of DDB are impaired in stimulating nuclear import of the p125 subunit and E2Fl-activated transcription. Mol. Cell. Biol. 19:4935-4943 .
43. Tan, T., and G. Chu. 2002. p53 binds and activates the xeroderma pigmentosum DDB2 gene in humans but not mice. Mol. Cell. Biol. 22:3247-3254.
44. Tanaka, H., H. Arakawa, T. Yamaguchi, K. Shiraishi, S. Fukuda, K. Matsui, Y. Takei, and Y. Nakamura. 2000. A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage. Nature 404:42-49.
45. Vogelstein, B., D. Lane, and A. J. Levine. 2000. Surfing the p53 network. Nature 408:307-310.
46. Yamaizumi, M., and T. Sugano. 1994. UV-induced nuclear accumulation of p53 is evoked through DNA damage of actively transcribed genes independent of the cell cycle. Oncogene 9:2775-2784.