Telomere length and telomerase activity impact the UV sensitivity syndrome xeroderma pigmentosum C

Cancer Research

Volumn 73, Issue 6, 2013, Pages 1844-1854

  Stout, Gerdine J ^a   Blasco, Maria A ^a  

^a Structural Biology and Biocomputing Programme   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

TELOMERASE; TELOMERIC REPEAT BINDING FACTOR 1; TELOMERIC REPEAT BINDING FACTOR 2;

AGING; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOMAL INSTABILITY; CONTROLLED STUDY; DNA DAMAGE; DNA REPLICATION; EMBRYO; ENZYME ACTIVATION; ENZYME ACTIVITY; GENOTYPE; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SKIN CARCINOGENESIS; TELOMERE HOMEOSTASIS; TELOMERE SHORTENING; ULTRAVIOLET RADIATION; XERODERMA PIGMENTOSUM;

ANIMALS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; MICE; MICE, KNOCKOUT; NEOPLASMS, RADIATION-INDUCED; TELOMERASE; TELOMERE; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM;

EID: 84875447015     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-12-3125     Document Type: Article

References (45)

1. Cleaver JE. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat Rev Cancer 2005;5:564-73.
2. Hoeijmakers JH. Genome maintenance mechanisms for preventing cancer. Nature 2001;411:366-74.
3. Artandi SE, DePinho RA. Telomeres and telomerase in cancer. Carcinogenesis 2010;31:9-18.
4. Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001;413:432-5.
5. Bessler M, Wilson DB, Mason PJ. Dyskeratosis congenita. FEBS Lett 2010;584:3831-8.
6. Blasco MA. Mice with bad ends: mouse models for the study of telomeres and telomerase in cancer and aging. Embo J 2005;24: 1095-103.
7. Vera E, Blasco MA. Beyond average: potential for measurement of short telomeres. Aging (Albany NY) 2012;4:379-92.
8. Taylor RS, Ramirez RD, Ogoshi M, Chaffins M, Piatyszek MA, Shay JW. Detection of telomerase activity in malignant and nonmalignant skin conditions. J Invest Dermatol 1996;106:759-65.
9. Ueda M. Telomerase in cutaneous carcinogenesis. J Dermatol Sci 2000;23 Suppl 1:S37-40.
10. Rochette PJ, Brash DE. Human telomeres are hypersensitive to UVinduced DNA Damage and refractory to repair. PLoS Genet 2010;6: e1000926.
11. Friedberg EC, Bond JP, Burns DK, Cheo DL, Greenblatt MS, Meira LB, et al. Defective nucleotide excision repair in xpc mutant mice and its association with cancer predisposition. Mutat Res 2000; 459:99-108.
12. Blasco MA, Lee HW, Hande MP, Samper E, Lansdorp PM, DePinho RA, et al. Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 1997;91:25-34.
13. Blanco R, Munoz P, Flores JM, Klatt P, Blasco MA. Telomerase abrogation dramatically accelerates TRF2-induced epithelial carcinogenesis. Genes Dev 2007;21:206-20.
14. Gonzalez-Suarez E, Samper E, Flores JM, Blasco MA. Telomerasedeficient mice with short telomeres are resistant to skin tumorigenesis. Nat Genet 2000;26:114-7.
15. Martinez P, Thanasoula M, Munoz P, Liao C, Tejera A, McNees C, et al. Increased telomere fragility and fusions resulting from TRF1 deficiency lead to degenerative pathologies and increased cancer in mice. Genes Dev 2009;23:2060-75.
16. Stout GJ, Blasco MA. Genetic dissection of the mechanisms underlying telomere-associated diseases: impact of the TRF2 telomeric protein on mouse epidermal stem cells. Dis Model Mech 2009;2: 139-56.
17. Samper E, Goytisolo FA, Slijepcevic P, van Buul PP, Blasco MA. Mammalian Ku86 protein prevents telomeric fusions independently of the length of TTAGGG repeats and the G-strand overhang. EMBO Rep 2000;1:244-52.
18. McNees CJ, Tejera AM, Martinez P, Murga M, Mulero F, Fernandez- Capetillo O, et al. ATR suppresses telomere fragility and recombination but is dispensable for elongation of short telomeres by telomerase. J Cell Biol 2010;188:639-52.
19. Varela E, Schneider RP, Ortega S, Blasco MA. Different telomerelength dynamics at the inner cell mass versus established embryonic stem (ES) cells. Proc Natl Acad Sci U S A 2011;108:15207-12.
20. Else T, Giordano TJ, Hammer GD. Evaluation of telomere length maintenance mechanisms in adrenocortical carcinoma. J Clin Endocrinol Metab 2008;93:1442-9.
21. Blasco MA. Telomeres and human disease: ageing, cancer and beyond. Nat Rev Genet 2005;6:611-22.
22. D'Errico M, Parlanti E, Teson M, de Jesus BM, Degan P, Calcagnile A, et al. New functions of XPC in the protection of human skin cells from oxidative damage. Embo J 2006;25:4305-15.
23. Sugasawa K. The xeroderma pigmentosum group C protein complex and ultraviolet-damaged DNA-binding protein: functional assays for damage recognition factors involved in global genome repair. Methods Enzymol 2006;408:171-88.
24. Munoz P, Blanco R, Flores JM, Blasco MA. XPF nuclease-dependent telomere loss and increased DNA damage in mice overexpressing TRF2 result in premature aging and cancer. Nat Genet 2005;37: 1063-71.
25. Sfeir A, Kosiyatrakul ST, Hockemeyer D, MacRae SL, Karlseder J, Schildkraut CL, et al. Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication. Cell 2009;138:90-103.
26. Durkin SG, Glover TW. Chromosome fragile sites. Annu Rev Genet 2007;41:169-92.
27. Sfeir A, de Lange T. Removal of shelterin reveals the telomere endprotection problem. Science 2012;336:593-7.
28. Herrera E, Samper E, Martin-Caballero J, Flores JM, Lee HW, Blasco MA. Disease states associated with telomerase deficiency appear earlier in mice with short telomeres. Embo J 1999;18:2950-60.
29. Stout GJ, Westdijk D, Calkhoven DM, Pijper O, Backendorf CM, Willemze R, et al. Epidermal transit of replication-arrested, undifferentiated keratinocytes in UV-exposed XPC mice: an alternative to in situ apoptosis. Proc Natl Acad Sci U S A 2005;102: 18980-5.
30. Rebel H, Kram N, Westerman A, Banus S, van Kranen HJ, de Gruijl FR. Relationship between UV-induced mutant p53 patches and skin tumours, analysed by mutation spectra and by induction kinetics in various DNA-repair-deficient mice. Carcinogenesis 2005;26:2123-30.
31. Bernardes de Jesus BM, Bjoras M, Coin F, Egly JM. Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC. Mol Cell Biol 2008;28:7225-35.
32. Petersen S, Saretzki G, von Zglinicki T. Preferential accumulation of single-stranded regions in telomeres of human fibroblasts. Exp Cell Res 1998;239:152-60.
33. Ikehata H, Saito Y, Yanase F, Mori T, Nikaido O, Ono T. Frequent recovery of triplet mutations in UVB-exposed skin epidermis of Xpcknockout mice. DNA Repair (Amst) 2007;6:82-93.
34. Ayouaz A, Raynaud C, Heride C, Revaud D, Sabatier L. Telomeres: hallmarks of radiosensitivity. Biochimie 2008;90:60-72.
35. Fasching CL, Neumann AA, Muntoni A, Yeager TR, Reddel RR. DNA damage induces alternative lengthening of telomeres (ALT) associated promyelocytic leukemia bodies that preferentially associate with linear telomeric DNA. Cancer Res 2007;67:7072-7.
36. Cesare AJ, Reddel RR. Alternative lengthening of telomeres: models, mechanisms and implications. Nat Rev Genet 2010;11:319-30.
37. Henson JD, Hannay JA, McCarthy SW, Royds JA, Yeager TR, Robinson RA, et al. A robust assay for alternative lengthening of telomeres in tumors shows the significance of alternative lengthening of telomeres in sarcomas and astrocytomas. Clin Cancer Res 2005;11:217-25.
38. Stout GJ, Oosten M, Acherrat FZ, Wit J, Vermeij WP, Mullenders LH, et al. Selective DNA damage responses in murine Xpa-/-,Xpc-/- and Csb-/- keratinocyte cultures. DNA Repair (Amst) 2005; 4:1337-44.
39. van Oosten M, Rebel H, Friedberg EC, van Steeg H, van der Horst GT, van Kranen HJ, et al. Differential role of transcription-coupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis. Proc Natl Acad Sci U S A 2000;97: 11268-73.
40. Ling G, Persson A, Berne B, Uhlen M, Lundeberg J, Ponten F. Persistent p53 mutations in single cells from normal human skin. Am J Pathol 2001;159:1247-53.
41. Rebel H, Mosnier LO, Berg RJ, Westerman-de Vries A, van Steeg H, van Kranen HJ, et a. Early p53-positive foci as indicators of tumor risk in ultraviolet-exposed hairless mice: kinetics of induction, effects of DNA repair deficiency, and p53 heterozygosity. Cancer Res 2001;61:977-83.
42. Kanjilal S, Pierceall WE, Cummings KK, Kripke ML, Ananthaswamy HN. High frequency of p53 mutations in ultraviolet radiation-induced murine skin tumors: evidence for strand bias and tumor heterogeneity. Cancer Res 1993;53:2961-4.
43. Ziegler A, Jonason AS, Leffell DJ, Simon JA, Sharma HW, Kimmelman J, et al. Sunburn and p53 in the onset of skin cancer. Nature 1994;372:773-6.
44. Giglia-Mari G, Sarasin A. TP53 mutations in human skin cancers. Hum Mutat 2003;21:217-28.
45. Chin L, Artandi SE, Shen Q, Tam A, Lee SL, Gottlieb GJ, et al. p53 deficiency rescues the adverse effects of telomere loss and cooperates with telomere dysfunction to accelerate carcinogenesis. Cell 1999;97:527-38.