Xeroderma pigmentosum: Clues to understanding cancer initiation

Dermatologica Sinica

Volumn 28, Issue 3, 2010, Pages 93-101

  Rezvani, Hamid Reza ^a   Mazurier, Frédéric ^a   Morice Picard, Fanny ^a   Jouary, Thomas ^a   Cario André, Muriel ^a   Ged, Cécile ^a   De Verneuil, Hubert ^a   Taëeb, Alain ^a  

^a BORDEAUX UNIVERSITY HOSPITAL   (France)

Author keywords

HIF 1 alpha; Photoprotection; Reactive oxygen species; Trichothiodystrophy; Warburg effect; Xeroderma pigmentosum

Indexed keywords

EID: 77957014156     PISSN: 10278117     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1027-8117(10)60021-3     Document Type: Review

References (65)

1. Eller MS, Ostrom K, Gilchrest BA. DNA damage enhances melanogenesis. Proc Natl Acad Sci USA 1996;93:1087-1092
2. Holleran WM, Uchida Y, Halkier-Sorensen L, et al. Structural and biochemical basis for the UVB-induced alterations in epidermal barrier function. Photodermatol Photoimmunol Photomed 1997; 13:117-128
3. Gläser R, Navid F, Schuller W, et al. UV-B radiation induces the expression of antimicrobial peptides in human keratinocytes in vitro and in vivo. J Allergy Clin Immunol 2009;123:1117-1123
4. Heck DE, Gerecke DR, Vetrano AM, Laskin JD. Solar ultraviolet radiation as a trigger of cell signal transduction. Toxicol Appl Pharmacol 2004;195:288-297
5. McArdle F, Rhodes LE, Parslew R, et al. UVR-induced oxidative stress in human skin in vivo: effects of oral vitamin C supplementation Free Radic Biol Med 2002;33:1355-1362
6. Punnonen K, Puntala A, Ahotupa M. Effects of ultraviolet A and B irradiation on lipid peroxidation and activity of the antioxidant enzymes in keratinocytes in culture. Photodermatol Photoimmunol Photomed 1991;8:3-6.
7. Shindo Y, Witt E, Han D, et al. Recovery of antioxidants and reduction in lipid hydroperoxides in murine epidermis and dermis after acute ultraviolet radiation exposure. Photodermatol Photoimmunol Photomed 1994;10:183-191
8. Tyrrell RM. Ultraviolet radiation and free radical damage to skin. Biochem Soc Symp 1995;61:47-53.
9. Cleaver JE. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer 2005;5:564-573
10. Moriwaki S, Kraemer KH. Xeroderma pigmentosum-bridging a gap between clinic and laboratory. Photodermatol Photoimmunol Photomed 2001;17:47-54.
11. Vuillaume M, Daya-Grosjean L, Vincens P, et al. Striking differences in cellular catalase activity between two DNA repair-deficient diseases: xeroderma pigmentosum and trichothiodystrophy. Carcinogenesis 1992;13:321-328
12. Morice-Picard F, Cario-André M, Rezvani H, et al. New clinicogenetic classification of trichothiodystrophy. Am J Med Genet A 2009;149A:2020-2030
13. Hashimoto S, Egly JM. Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH. Hum Mol Genet 2009;18:R224-30.
14. Chiganças V, Lima-Bessa KM, Stary A, et al. Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome. Cancer Res 2008;68:6074-6083
15. Nishiwaki T, Kobayashi N, Iwamoto T, et al. Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients. DNA Repair (Amst) 2008;7:1990-1998
16. Hoffschir F, Daya-Grosjean L, Petit PX, et al. Low catalase activity in xeroderma pigmentosum fibroblasts and SV40-transformed human cell lines is directly related to decreased intracellular levels of the cofactor, NADPH. Free Radic Biol Med 1998;24: 809-816
17. Bessou-Touya S, Picardo M, Maresca V, et al. Chimeric human epidermal reconstructs to study the role of melanocytes and keratinocytes in pigmentation and photoprotection. J Invest Dermatol 1998;111:1103-1108
18. Maresca V, Flori E, Briganti S, et al. Correlation between melanogenic and catalase activity in in vitro human melanocytes: a synergic strategy against oxidative stress. Pigment Cell Melanoma Res 2008;21:200-205
19. Okada H, Mak TW. Pathways of apoptotic and non-apoptotic death in tumour cells. Nat Rev Cancer 2004;4:592-603.
20. Budihardjo I, Oliver H, Lutter M, et al. Biochemical pathways of caspase activation during apoptosis. Annu Rev Cell Dev Biol 1999; 15:269-290
21. Denning MF, Wang Y, Tibudan S, et al. Caspase activation and disruption of mitochondrial membrane potential during UV radiationinduced apoptosis of human keratinocytes requires activation of protein kinase C. Cell Death Differ 2002;9:40-52.
22. Kulms D, Zeise E, Poppelmann B, Schwarz T. DNA damage, death receptor activation and reactive oxygen species contribute to ultraviolet radiation-induced apoptosis in an essential and independent way. Oncogene 2002;21:5844-5851
23. Maalouf S, El-Sabban M, Darwiche N, Gali-Muhtasib H. Protective effect of vitamin E on ultraviolet B light-induced damage in keratinocytes. Mol Carcinog 2002;34:121-130
24. Morley N, Curnow A, Salter L, et al. N-acetyl-L-cysteine prevents DNA damage induced by UVA, UVB and visible radiation in human fibroblasts. J Photochem Photobiol B 2003;72:55-60.
25. Pelle E, Huang X, Mammone T, et al. Ultraviolet-B-induced oxidative DNA base damage in primary normal human epidermal keratinocytes and inhibition by a hydroxyl radical scavenger. J Invest Dermatol 2003;121:177-183
26. Rezvani HR, Mazurier F, Cario-André M, et al. Protective effects of catalase overexpression on UVB-induced apoptosis in normal human keratinocytes. J Biol Chem 2006;281:17999-18007
27. Rezvani HR, Cario-André M, Pain C, et al. Protection of normal human reconstructed epidermis from UV by catalase overexpression. Cancer Gene Ther 2007;14:174-186
28. Rezvani HR, Ged C, Bouadjar B, et al. Catalase overexpression reduces UVB-induced apoptosis in a human xeroderma pigmentosum reconstructed epidermis. Cancer Gene Ther 2008;15:241-251
29. Zhou NY, Bates SE, Bouziane M, et al. Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells. J Mol Biol 2003;332:337-351
30. Bernerd F, Asselineau D, Frechet M, et al. Reconstruction of DNA repairdeficient xeroderma pigmentosum skin in vitro: a model to study hypersensitivity to UV light. Photochem Photobiol 2005; 81:19-24.
31. Marchetto MC, Correa RG, Menck CF, Muotri AR. Functional lentiviral vectors for xerodermapigmentosum gene therapy. J Biotechnol 2006;126:424-430
32. Zeng L, Quilliet X, Chevallier-Lagente O, et al. Retrovirus mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C. Gene Ther 1997;4:1077-1084
33. Bardos JI, Ashcroft M. Negative and positive regulation of HIF-1: a complex network. Biochim Biophys Acta 2005;1755:107-20.
34. Harris AL. Hypoxia-1-a key regulatory factor in tumour growth. Nat Rev Cancer 2002;2:38-47.
35. Maxwell PH, Dachs GU, Gleadle JM, et al. Hypoxia-inducible factor-1 modulates gene expression in solid tumors and influences both angiogenesis and tumor growth. Proc Natl Acad Sci USA 1997;94:8104-8109
36. Semenza GL. HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the nucleus. Cell 2001;107:1-3.
37. Wang GL, Jiang BH, Rue EA, Semenza GL. Hypoxia-inducible factor 1 is a basic-helix-loophelix-PAS heterodimer regulated by cellular O2 tension. Proc Natl Acad Sci USA 1995;92:5510-5514
38. Bardos JI, Chau NM, Ashcroft M. Growth factor-mediated induction of HDM2 positively regulates hypoxia-inducible factor 1alpha expression. Mol Cell Biol 2004;24:2905-2914
39. Lee JW, Bae SH, Jeong JW, et al. Hypoxia-inducible factor (HIF-1) alpha: its protein stability and biological functions. Exp Mol Med 2004;36:1-12.
40. Bell EL, Emerling BM, Chandel NS. Mitochondrial regulation of oxygen sensing. Mitochondrion 2005;5:322-332
41. Brahimi-Horn C, Mazure N, Pouyssegur J. Signalling via the hypoxia-inducible factor-1alpha requires multiple posttranslational modifications. Cell Signal 2005;17:1-9.
42. Kietzmann T, Gorlach A. Reactive oxygen species in the control of hypoxia-inducible factormediated gene expression. Semin Cell Dev Biol 2005;16:474-486
43. Haddad JJ, Land SC. A non-hypoxic, ROS-sensitive pathway mediates TNF-alpha-dependent regulation of HIF-1alpha. FEBS Lett 2001;505:269-274
44. Blaudschun R, Brenneisen P, Wlaschek M, et al. The first peak of the UVB irradiation-dependent biphasic induction of vascular endothelial growth factor (VEGF) is due to phosphorylation of the epidermal growth factor receptor and independent of autocrine transforming growth factor alpha. FEBS Lett 2000;474: 195-200.
45. Kim MS, Kim YK, Eun HC, et al. All-trans retinoic acid antagonizes UV induced VEGF production and angiogenesis via the inhibition of ERK activation in human skin keratinocytes. J Invest Dermatol 2006;126:2697-2706
46. Mildner M, Weninger W, Trautinger F, et al. UVA and UVB radiation differentially regulate vascular endothelial growth factor expression in keratinocyte-derived cell lines and in human keratinocytes. Photochem Photobiol 1999;70:674-679
47. Sugasawa K, Okuda Y, Saijo M, et al. UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex. Cell 2005;121:387-400.
48. Wang QE, Praetorius-Ibba M, Zhu Q, et al. Ubiquitylationindependent degradation of Xeroderma pigmentosum group C protein is required for efficient nucleotide excision repair. Nucleic Acids Res 3 2007;5:5338-5350
49. Rezvani HR, Dedieu S, North S, et al. Hypoxia-inducible factor-1alpha, a key factor in the keratinocyte response to UVB exposure. J Biol Chem 2007;282:16413-16422
50. Rezvani HR, Mahfouf W, Ali N, et al. Hypoxia-inducible factor-1{alpha} regulates the expression of nucleotide excision repair proteins in keratinocytes. Nucleic Acids Res 2010;38:797-809.
51. Warburg O. On the origin of cancer cells. Science 1956;123: 309-314
52. Modica-Napolitano JS, Singh KK. Mitochondria as targets for detection and treatment of cancer. Expert Rev Mol Med 2002;4: 1-19.
53. Gatenby RA, Gillies RJ. Why do cancers have high aerobic glycolysis? Nat Rev Cancer 2004;4:891-899
54. Brandon M, Baldi P, Wallace DC. Mitochondrial mutations in cancer. Oncogene 2006;25:4647-4662
55. Stubbs M, Griffiths JR. The altered metabolism of tumors: HIF-1 and its role in the Warburg effect. Adv Enzyme Regul 2009;Nov 6. [Published online]
56. Clerkin JS, Naughton R, Quiney C, Cotter TG. Mechanisms of ROS modulated cell survival during carcinogenesis. Cancer Lett 266:30-36
57. Gottlieb E, Tomlinson IP. Mitochondrial tumour suppressors: a genetic and biochemical update. Nat Rev Cancer 2005;5:857-866
58. Jones RG, Thompson CB. Tumor suppressors and cell metabolism: a recipe for cancer growth. Genes Dev 2009;23:537-548
59. Bensaad K, Vousden KH. p53: new roles in metabolism. Trends Cell Biol 2007;17:286-291
60. Yeung SJ, Pan J, Lee MH. Roles of p53, MYC and HIF-1 in regulating glycolysis - the seventh hallmark of cancer. Cell Mol Life Sci 2008;65:3981-3999
61. Pelicano H, Martin DS, Xu RH, Huang P. Glycolysis inhibition for anticancer treatment. Oncogene 2006;25:4633-4646
62. Hollander MC, Philburn RT, Patterson AD, et al. Deletion of XPC leads to lung tumors in mice and is associated with early events in human lung carcinogenesis. Proc Natl Acad Sci USA 102: 13200-13205
63. Miccoli L, Burr KL, Hickenbotham P, et al. The combined effects of xeroderma pigmentosum C deficiency and mutagens on mutation rates in the mouse germ line. Cancer Res 2007;67: 4695-4699
64. Chen Z, Yang J, Wang G, et al. Attenuated expression of xeroderma pigmentosum group C is associated with critical events in human bladder cancer carcinogenesis and progression. Cancer Res 2007;67:4578-4585
65. Wijnhoven SW, Kool HJ, Mullenders LH, et al. Age-dependent spontaneous mutagenesis in Xpc mice defective in nucleotide excision repair. Oncogene 2000;19:5034-5037