Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum

Journal of Dermatological Science

Volumn 23, Issue 1, 2000, Pages 1-11

  Cleaver, James E ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Repair and replication deficiencies; Ultraviolet skin carcinogenesis; Xeroderma pigmentosum

Indexed keywords

DOUBLE STRANDED DNA;

CONFERENCE PAPER; DNA DAMAGE; DNA REPAIR; EXCISION REPAIR; HUMAN; PRIORITY JOURNAL; RADIATION MUTAGENESIS; SKIN CANCER; SKIN CARCINOGENESIS; ULTRAVIOLET IRRADIATION; XERODERMA PIGMENTOSUM;

ANIMALS; CENTRAL NERVOUS SYSTEM DISEASES; DNA REPAIR; DNA REPLICATION; DNA-DIRECTED DNA POLYMERASE; HUMANS; MUTATION; NEOPLASMS, RADIATION-INDUCED; SKIN NEOPLASMS; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM;

EID: 0033983935     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-1811(99)00088-2     Document Type: Conference Paper

References (70)

1. Cleaver JE. Defective repair replication in xeroderma pigmentosum. Nature 1968;218:652-6.
2. Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokol M, Yuasa M, et al. The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η. Nature 1999;399:700-4.
3. Johnson RE, Kondratick CM, Prakash S, Prakash L. hRAD30 mutations in the variant form of xeroderma pigmentosum. Science 1999;285:263-5.
4. Bootsma D, Kraemer KH, Cleaver JE, Hoeijmakers JHJ. Nucleotide excision repair syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. In: Vogelstein B, Kinzler KW, editors. The Genetic Basis of Human Cancer. New York: McGraw-Hill, 1998:245-74.
5. Huang JC, Sancar A. Determination of minimum substrate size for human excinuclease. J Biol Chem 1994;269:19034-44.
6. Sancar A. Mechanisms of DNA excision repair. Science 1994;266:1954-6.
7. Tanaka K, Satokata I, Ogita Z, Uchida T, Okada Y. Molecular cloning of a mouse DNA repair gene that complements the defect in group A xeroderma pigmentosum. Proc Natl Acad Sci USA 1989;86:5512-6.
8. Cleaver JE, Charles WC, McDowell ML, Sadinski WJ, Mitchell DL. Overexpression of the XPA repair gene increases resistance of ultraviolet radiation in human cells by selective repair of DNA damage. Cancer Res 1995;55:6152-60.
9. Mol CD, Arvai AS, Sanderson RJ, Slupphaug G, Kavli B, Krokan HE, et al. Crystal structure of human uracil-DNA glycosylase in complex with a protein inhibitor: protein mimicry of DNA. Cell 1995;82:701-8.
10. Shivji MK, Eker AP, Wood RD. DNA repair defect in xeroderma pigmentosum group C and complementing factor from HeLa cells. J Biol Chem 1994;269:22749-57.
11. Masutani C, Sugasawa K, Yanagisawa J, Sonoyama T, Ui M, Enomoto T, et al. Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23. EMBO J 1994;13:1831-43.
12. Sugasawa K, Ng JMY, Masutani C, Iwai S, van der Spek PJ, Eker APM, et al. Xeroderma pigmentosum group C protein complex is the initiator of global nucleotide excision repair. Mol Cell 1998;2:223-32.
13. Wood RD. DNA damage recognition during nucleotide excision repair in mammalian cells. Biochimie 1999;81:39-44.
14. Baxter BK, Smerdon MJ. Nucleosome unfolding during DNA repair in normal and xeroderma pigmentosum (group C) human cells. J Biol Chem 1998;273:17517-24.
15. Hwang BJ, Toering S, Francke U, Chu G. p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. Mol Cell Biol 1998;18:4391-9.
16. Hwang BJ, Ford JM, Hanawalt PC, Chu G. Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genome repair. Proc Natl Acad Sci USA 1999;96:424-8.
17. Houtsmuller AB, Rademakers S, Nigg ALHD, Hoeijmakers JH, Vermeulen W. Action of DNA repair endonuclease ERCC1/XPF in living cells. Science 1999;284:958-61.
18. Cooper PK, Nouspikel T, Clarkson SG, Leadon SA. Defective transcription coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science 1997;275:990-3.
19. Wang XW, Yeh H, Schaeffer L, Roy R, Moncollin V, Egly JM, et al. p53 modulation of TFIIH-associated nucleotide excision repair activity. Nat Genet 1995;10:188-95.
20. Greenblatt MS, Bennett WP, Hollstein M, Harris CC. Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res 1994;54:4855-78.
21. Smith ML, Chen I-T, Zhan Q, Bae I, Chen C-Y, Gilmer TM, et al. Interaction of the p53-regulated protein gadd 45 with proliferating cell nuclear antigen. Science 1994;266:1376-80.
22. McWhir J, Selfridge J, Harrison DJ, Squires S, Melton D. Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning. Nat Genet 1993;5:217-24.
23. van Duin M, van den Tol J, Warmerdam P, Odijk H, Meijer D, Westeveld A, et al. Evolution and mutagenesis of the mammalian excision repair gene ERCC1. Nucleic Acids Res 1988;16:5305-22.
24. Mitchell DL, Cleaver JE. Photochemical alterations of cytosine account for most biological effects after ultraviolet irradiation. Trends Photochem Photobiol 1990;1:107-19.
25. Mitchell DL, Nairn RS. The biology of the (6-4) photoproduct. Photochem Photobiol 1989;49:805-19.
26. Mitchell DL. The induction and repair of lesions produced by the photolysis of [6-4] photoproducts in normal and UV-hypersensitive human cells. Mutat Res 1988;194:227-37.
27. Driggers WJ, Grishko VI, LeDoux SP, Wilson GL. Defective repair of oxidative damage in the mitochondrial DNA of a xeroderma pigmentosum group A cell line. Cancer Res 1996;56:1262-6.
28. States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE. Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat 1998;12:103-13.
29. Bohr V. DNA repair fine structure and its relations to genomic instability. Carcinogenesis 1995;16:2885-92.
30. Huang JC, Hsu DS, Kazantsev A, Sancar A. Substrate spectrum of human excinuclease: repair of abasic sites, methylated bases, mismatches, and bulky adducts. Proc Natl Acad Sci USA 1994;91:12213-27.
31. Singer B, Hang B. What structural features determine repair enzyme specificity and mechanism in chemically modified DNA? Chem Res Toxicol 1997;10:713-32.
32. Sancar A, Sancar GB. DNA repair enzymes. Annu Rev Biochem 1988;57:29-67.
33. Tebbs RS, Bishop J, Pedersen RA. Transgenic and Knockout Mice: Genetic Models for Environmental Stress. New York: Marcel Dekker, 1997.
34. Tebbs RS, Flannery M, Meneses JJ, Hartmann A, Tucker JD, Thompson LH, et al. Requirement for the Xrcc1 DNA base excision repair gene during early mouse development. Dev Biol 1999;208:513-29.
35. Wood RD. DNA repair in eukaryotes. Annu Rev Biochem 1996;65:135-67.
36. Koberle B, Masters JR, Hartley JA, Wood RD. Defective repair of cisplatin-induced DNA damage caused by reduced XPA protein in testicular germ cell tumours. Curr Biol 1999;9:273-6.
37. Sobol RW, Horton JK, Kuhn R, Gu H, Singhal RK, Prasad R, et al. Requirement of mammalian DNA polymerase-β in base-excision repair. Nature 1996;379:183-6.
38. Han P, Clingen PH, Lowe JE, Katsuya A, Arlett CF, Green MH. Repair of cyclobutane pyrimidine dimers in unstimulated human mononuclear cells is deficient at very low fluences of ultraviolet B and is not enhanced by addition of deoxyribonucleosides. Mutagenesis 1998;13:353-6.
39. Green MH, Waugh AP, Lowe JE, Harcourt SA, Clingen PH, Cole J, et al. Protective effect of deoxyribonucleosides on UV-irradiated human peripheral blood T-lymphocytes: possibilities for the selective killing of either cycling or non-cycling cells. Mutat Res 1996;350:239-46.
40. Schaeffer L, Roy R, Humbert S, Moncollin V, Vermeulen W, Hoeijmakers JHJ, et al. DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 1993;260:58-63.
41. Venema J, Hoffen A, Karcagi V, Natarajan AT, Zeeland AA, Mullenders LH. Xeroderma pigmentosum complementation group C cells remove pyrimidine dimers selectively from the transcribed strand of active genes. Mol Cell Biol 1991;11:4128-34.
42. Venema J, Mullenders JH, Natarajan AT, Zeeland AA, Mayne LY. The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. Proc Natl Acad Sci USA 1990;87:4707-11.
43. Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg EC, Warren SL. UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. Proc Natl Acad Sci USA 1996;93:11586-90.
44. Leadon SA, Avrutskaya AV. Differential involvement of the human mismatch repair proteins, hMLH1 and hMSH2, in transcription-coupled repair. Cancer Res 1997;57:3784-91.
45. Bertrand P, Tishkoff DX, Filosi N, Dasgupta R, Kolodner RD. Physical interaction between components of DNA mismatch repair and nucleotide excision repair. Proc Natl Acad Sci USA 1998;95:14278-83.
46. Buchhop S, Gibson MK, Wang XW, Wagner P, Sturzbechter H-W, Harris CW. Interaction of p53 with the human rad51 protein. Nucleic Acids Res 1997;25:3868-74.
47. Gowen LC, Avrutskaya AV, Latour AM, Koller BH, Leadon SA. BRCA1 required for transcription-coupled repair of oxidative damage. Science 1998;281:1009-12.
48. Ford JM, Hanawalt PC. Expression of wild-type p53 is required for efficient global genomic nucleotide excision repair in UV-irradiated human fibroblasts. J Biol Chem 1997;272:28073-80.
49. Ford JM, Baron EL, Hanawalt PC. Human fibroblasts expressing the human papillomavirus E6 gene are deficient in global genomic nucleotide excision repair and sensitive to ultraviolet irradiation. Cancer Res 1998;58:599-603.
50. Cleaver JE, Afzal V, Feeney L, McDowell M, Sadinski W, Volpe JPG, et al. Increased UV sensitivity and chromosomal instability related to p53 function in the xeroderma pigmentosum variant. Cancer Res 1999;59:1102-8.
51. Patterson M, Chu G. Evidence that xeroderma pigmentosum cells from complementation group E are deficient in a homolog of yeast photolyase. Mol Cell Biol 1989;9:5105-12.
52. Takeda N, Shibuya M, Maru Y. The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum B protein. Proc Natl Acad Sci USA 1999;96:203-7.
53. Friedberg EC, Meira LB, Cheo DL. Database of mouse strains carrying targeted mutations in genes affecting cellular responses to DNA damage. Version 2. Mutat Res 1998;407:217-26.
54. Cleaver JE. Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light. J Invest Dermatol 1972;58:124-8.
55. Lehmann AR, Kirk-Bell S, Arlett CF, Paterson MC, Lohman PHM, Weerd-Kastelein EA, et al. Xeroderma pigmentosum cells with normal levels of excision repair have a defect on DNA synthesis after UV-irradiation. Proc Natl Acad Sci USA 1975;72:219-35.
56. Lehmann AR. The relationship between pyrimidine dimers and replicating DNA in ultraviolet light-irradiated human fibroblasts. Nucleic Acids Res 1979;7:1901-12.
57. Wang YC, Maher VM, McCormick JJ. Xeroderma pigmentosum variant cells are less likely than normal cells to incorporate dAMP opposite photoproducts during replication of UV-irradiated plasmids. Proc Natl Acad Sci USA 1991;88:7810-4.
58. Cleaver JE. Caffeine toxicity is inversely related to DNA repair in simian virus-40 transformed xeroderma pigmentosum cells irradiated with ultraviolet light. Teratogen Carcinogen Mutagen 1989;9:147-55.
59. Cordiero-Stone M, Zaritskaya LS, Price LK, Kaufmann WK. Replication fork bypass of a pyrimidine dimer blocking leading strand DNA synthesis. J Biol Chem 1997;272:13945-54.
60. Cleaver JE. Stopping DNA replication in its tracks. Science 1999;285:212-3.
61. Nelson JR, Lawrence CW, Hinkle DC. Thymine-thymine dimer bypass by yeast DNA polymerase zeta. Science 1996;272:1646-9.
62. McDonald JP, Levine AS, Woodgate R. The Saccharomyces cerevisiae Rad30 gene, a homolog of Escherischiae coli dinB and umuC, is damage inducible and functions in a novel error-free postreplication repair mechanism. Genetics 1997;147:1557-68.
63. Cleaver JE, Thomas GH, Park SD. Xeroderma pigmentosum variants have a slow recovery of DNA synthesis after irradiation with ultraviolet light. Biochim Biophys Acta 1979;564:122-31.
64. Park SD, Cleaver JE. Recovery of DNA synthesis after ultraviolet irradiation of xeroderma pigmentosum cells depends on excision repair and is blocked by caffeine. Nucleic Acids Res 1979;6:1151-9.
65. Park SD, Cleaver JE. Postreplication repair: questions of its definition and possible alterations in xeroderma pigmentosum cell strains. Proc Natl Acad Sci USA 1979;76:3927-31.
66. Kinzler KW, Vogelstein B. Gatekeepers and caretakers. Nature 1997;386:761-3.
67. Dumaz N, Drougard C, Sarasin A, Daya-Grosjean L. Specific UV-induced mutation spectrum in the p53 gene of skin tumors from DNA-repair-deficient xeroderma pigmentosum patients. Proc Natl Acad Sci USA 1993;90:10519-33.
68. Bodak N, Queille S, Avril MF, Bouadjar B, Drougard C, Sarasin A, et al. High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum. Proc Natl Acad Sci USA 1999;96:5117-22.
69. Lafarge-Frayssinet C, Daya-Grosjean L, Estrade S, Frezouls G, Sarasin A, Cassingena R. Cellular genes possibly involved in the transformation process of the human melanoma cell line XP44 RO (Mel). Anticancer Res 1995;15:1205-13.
70. Rauth AM. Evidence for dark reactivation of UV light damage in mouse L cells. Radiat Res 1967;31:121-38.