Mechanism of oxidative DNA damage repair and relevance to human pathology

Mutation Research - Reviews in Mutation Research

Volumn 659, Issue 1-2, 2008, Pages 4-14

  D'Errico, Mariarosaria ^a   Parlanti, Eleonora ^a   Dogliotti, Eugenia ^a  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

DNA repair; DNA repair defective human diseases; Oxidative DNA damage

Indexed keywords

7,8 DIHYDRO 8 HYDROXYGUANINE; 8 HYDROXYGUANINE; ALADIN PROTEIN; DNA; DNA GLYCOSYLTRANSFERASE; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; PROTEIN; REACTIVE OXYGEN METABOLITE; XRCC1 PROTEIN;

ADENOMATOUS POLYP; ALLGROVE SYNDROME; APRAXIA; ATAXIA; ATAXIA OCULOMOTOR APRAXIA 1; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; COCKAYNE SYNDROME; COLORECTAL CANCER; DNA DAMAGE; DNA REPAIR; DNA STRAND BREAKAGE; ENZYME ACTIVITY; EXCISION REPAIR; FAMILIAL CANCER; GENETIC SUSCEPTIBILITY; HEAD AND NECK CARCINOMA; HUMAN; HUNTINGTON CHOREA; LUNG NON SMALL CELL CANCER; MOLECULAR EPIDEMIOLOGY; MUTAGENESIS; MUTAGENICITY; MUTATION; NEOPLASM; NEUROLOGIC DISEASE; NONHUMAN; NUCLEAR PORE COMPLEX; OXIDATION; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVIEW; SKIN CANCER; SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY 1; SPINOCEREBELLAR DEGENERATION; SQUAMOUS CELL CARCINOMA; SYNDROME DELINEATION; ULTRAVIOLET IRRADIATION;

ANIMALS; DNA DAMAGE; DNA REPAIR; GUANINE; HUMANS; MUTAGENESIS; NEOPLASMS; NERVOUS SYSTEM DISEASES; OXIDATION-REDUCTION; REACTIVE OXYGEN SPECIES;

MUS;

EID: 47849100494     PISSN: 13835742     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrrev.2007.10.003     Document Type: Review

References (96)

1. Fortini P., and Dogliotti E. Base damage and single-strand break repair: mechanisms and functional significance of short- and long-patch repair subpathways. DNA Repair (Amst) 6 (2007) 398-409
2. Nakabeppu Y., Kajitani K., Sakamoto K., Yamaguchi H., and Tsuchimoto D. MTH1, an oxidized purine nucleoside triphosphatase, prevents the cytotoxicity and neurotoxicity of oxidized purine nucleotides. DNA Repair (Amst) 5 (2006) 761-772
3. Russo M.T., De Luca G., Degan P., and Bignami M. Different DNA repair strategies to combat the threat from 8-oxoguanine. Mutat. Res. 614 (2007) 69-76
4. Sidorenko V.S., Nevinsky G.A., and Zharkov D.O. Mechanism of interaction between human 8-oxoguanine-DNA glycosylase and AP endonuclease. DNA Repair (Amst) 6 (2007) 317-328
5. D'Errico M., Parlanti E., Teson M., de Jesus B.M., Degan P., Calcagnile A., Jaruga P., Bjoras M., Crescenzi M., Pedrini A.M., Egly J.M., Zambruno G., Stefanini M., Dizdaroglu M., and Dogliotti E. New functions of XPC in the protection of human skin cells from oxidative damage. EMBO J. 25 (2006) 4305-4315
6. Mokkapati S.K., Wiederhold L., Hazra T.K., and Mitra S. Stimulation of DNA glycosylase activity of OGG1 by NEIL1: functional collaboration between two human DNA glycosylases. Biochemistry 43 (2004) 11596-11604
7. Sugasawa K., Shimizu Y., Iwai S., and Hanaoka F. A molecular mechanism for DNA damage recognition by the xeroderma pigmentosum group C protein complex. DNA Repair (Amst) 1 (2002) 95-107
8. Wiederhold L., Leppard J.B., Kedar P., Karimi-Busheri F., Rasouli-Nia A., Weinfeld M., Tomkinson A.E., Izumi T., Prasad R., Wilson S.H., Mitra S., and Hazra T.K. AP endonuclease-independent DNA base excision repair in human cells. Mol. Cell 15 (2004) 209-220
9. Bhakat K.K., Mokkapati S.K., Boldogh I., Hazra T.K., and Mitra S. Acetylation of human 8-oxoguanine-DNA glycosylase by p300 and its role in 8-oxoguanine repair in vivo. Mol. Cell. Biol. 26 (2006) 1654-1665
10. Fortini P., Parlanti E., Sidorkina O.M., Laval J., and Dogliotti E. The type of DNA glycosylase determines the base excision repair pathway in mammalian cells. J. Biol. Chem. 274 (1999) 15230-15236
11. Dianov G., Bischoff C., Piotrowski J., and Bohr V.A. Repair pathways for processing of 8-oxoguanine in DNA by mammalian cell extracts. J. Biol. Chem. 278 (1998) 33511-33516
12. Klungland A., Rosewell I., Hollenbach S., Larsen E., Daly G., Epe B., Seeberg E., Lindahl T., and Barnes D.E. Accumulation of premutagenic DNA lesions in mice defective in removal of oxidative base damage. Proc. Natl. Acad. Sci. U.S.A. 96 (1999) 13300-13305
13. Sakumi K., Tominaga Y., Furuichi M., Xu P., Tsuzuki T., Sekiguchi M., and Nakabeppu Y. Ogg1 knockout-associated lung tumorigenesis and its suppression by Mth1 gene disruption. Cancer Res. 63 (2003) 902-905
14. Rozalski R., Siomek A., Gackowski D., Foksinski M., Gran C., Klungland A., and Olinski R. Substantial decrease of urinary 8-oxo-7,8-dihydroguanine, a product of the base excision repair pathway, in DNA glycosylase defective mice. Int. J. Biochem. Cell. Biol. 37 (2005) 1331-1336
15. Kunisada M., Sakumi K., Tominaga Y., Budiyanto A., Ueda M., Ichihashi M., Nakabeppu Y., and Nishigori C. 8-Oxoguanine formation induced by chronic UVB exposure makes Ogg1 knockout mice susceptible to skin carcinogenesis. Cancer Res. 65 (2005) 6006-6010
16. Wijnhoven S.W., Kool H.J., Mullenders L.H., van Zeeland A.A., Friedberg E.C., van der Horst G.T., van Steeg H., and Vrieling H. Age-dependent spontaneous mutagenesis in Xpc mice defective in nucleotide excision repair. Oncogene 19 (2000) 5034-5037
17. Hollander M.C., Philburn R.T., Patterson A.D., Velasco-Miguel S., Friedberg E.C., Linnoila R.I., and Fornace Jr. A.J. Deletion of XPC leads to lung tumors in mice and is associated with early events in human lung carcinogenesis. Proc. Natl. Acad. Sci. U.S.A. 102 (2005) 13200-13205
18. D'Errico M., Teson M., Calcagnile A., Nardo T., De Luca N., Lazzari C., Soddu S., Zambruno G., Stefanini M., and Dogliotti E. Differential role of transcription-coupled repair in UVB-induced response of human fibroblasts and keratinocytes. Cancer Res. 65 (2005) 432-438
19. Osterod M., Larsen E., Le Page F., Hengstler J.G., Van Der Horst G.T., Boiteux S., Klungland A., and Epe B. A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage. Oncogene 21 (2002) 8232-8239
20. Trapp C., Reite K., Klungland A., and Epe B. Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice. Oncogene 26 (2007) 4044-4048
21. Trapp C., Schwarz M., and Epe B. The peroxisome proliferator WY-14,643 promotes hepatocarcinogenesis caused by endogenously generated oxidative DNA base modifications in repair-deficient Csbm/m/Ogg1-/- mice. Cancer Res. 67 (2007) 5156-5161
22. Laposa R.R., Huang E.J., and Cleaver J.E. Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 1389-1394
23. Murai M., Enokido Y., Inamura N., Yoshino M., Nakatsu Y., van der Horst G.T., Hoeijmakers J.H., Tanaka K., and Hatanaka H. Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. Proc. Natl. Acad. Sci. U.S.A. 98 (2001) 13379-13384
24. Kuraoka I., Bender C., Romieu A., Cadet J., Wood R.D., and Lindahl T. Removal of oxygen free-radical-induced 5′,8-purine cyclodeoxynucleosides from DNA by the nucleotide excision-repair pathway in human cells. Proc. Natl. Acad. Sci. U.S.A. 97 (2000) 3832-3837
25. D'Errico M., Parlanti E., Teson M., Degan P., Lemma T., Calcagnile A., Iavarone I., Jaruga P., Ropolo M., Pedrini A.M., Orioli D., Frosina G., Zambruno G., Dizdaroglu M., Stefanini M., and Dogliotti E. The role of CSA in the response to oxidative DNA damage in human cells. Oncogene 26 (2007) 4336-4343
26. Brooks P.J., Wise D.S., Berry D.A., Kosmoski J.V., Smerdon M.J., Somers R.L., Mackie H., Spoonde A.Y., Ackerman E.J., Coleman K., Tarone R.E., and Robbins J.H. The oxidative DNA lesion 8,5′-(S)-cyclo-2′-deoxyadenosine is repaired by the nucleotide excision repair pathway and blocks gene expression in mammalian cells. J. Biol. Chem. 275 (2000) 22355-22362
27. Marietta C., Gulam H., and Brooks P.J. A single 8,5′-cyclo-2′-deoxyadenosine lesion in a TATA box prevents binding of the TATA binding protein and strongly reduces transcription in vivo. DNA Repair (Amst) 1 (2002) 967-975
28. Kuraoka I., Robins P., Masutani C., Hanaoka F., Gasparutto D., Cadet J., Wood R.D., and Lindahl T. Oxygen free radical damage to DNA. Translesion synthesis by human DNA polymerase eta and resistance to exonuclease action at cyclopurine deoxynucleoside residues. J. Biol. Chem. 276 (2001) 49283-49288
29. Marietta C., and Brooks P.J. Transcriptional bypass of bulky DNA lesions causes new mutant RNA transcripts in human cells. EMBO Rep. 8 (2007) 388-393
30. Gorgels T.G., van der Pluijm I., Brandt R.M., Garinis G.A., van Steeg H., van den Aardweg G., Jansen G.H., Ruijter J.M., Bergen A.A., van Norren D., Hoeijmakers J.H., and van der Horst G.T. Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. Mol. Cell. Biol. 27 (2007) 1433-1441
31. Ropolo M., Degan P., Foresta M., D'Errico M., Lasiglie D., Dogliotti E., Casartelli G., Zupo S., Poggi A., and Frosina G. Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by Escherichia coli formamidopyrimidine DNA glycosylase. Free Radic. Biol. Med. 42 (2007) 1807-1817
32. Kathe S.D., Shen G.P., and Wallace S.S. Single-stranded breaks in DNA but not oxidative DNA base damages block transcriptional elongation by RNA polymerase II in HeLa cell nuclear extracts. J. Biol. Chem. 279 (2004) 18511-18520
33. Charlet-Berguerand N., Feuerhahn S., Kong S.E., Ziserman H., Conaway J.W., Conaway R., and Egly J.M. RNA polymerase II bypass of oxidative DNA damage is regulated by transcription elongation factors. EMBO J. 25 (2006) 5481-5491
34. Kuraoka I., Suzuki K., Ito S., Hayashida M., Kwei J.S., Ikegami T., Handa H., Nakabeppu Y., and Tanaka K. RNA polymerase II bypasses 8-oxoguanine in the presence of transcription elongation factor TFIIS. DNA Repair (Amst) 6 (2007) 841-851
35. Evans M.D., and Cooke M.S. Factors contributing to the outcome of oxidative damage to nucleic acids. Bioessays 26 (2004) 533-542
36. Chang D.Y., and Lu A.L. Functional interaction of MutY homolog with proliferating cell nuclear antigen in fission yeast, Schizosaccharomyces pombe. J. Biol. Chem. 277 (2002) 11853-11858
37. Gu Y., Parker A., Wilson T.M., Bai H., Chang D.Y., and Lu A.L. Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2/human MutS homolog 6. J. Biol. Chem. 277 (2002) 11135-11142
38. Chang D.Y., and Lu A.L. Interaction of checkpoint proteins Hus1/Rad1/Rad9 with DNA base excision repair enzyme MutY homolog in fission yeast, Schizosaccharomyces pombe. J. Biol. Chem. 280 (2005) 408-417
39. Shi G., Chang D.Y., Cheng C.C., Guan X., Venclovas C., and Lu A.L. Physical and functional interactions between MutY glycosylase homologue (MYH) and checkpoint proteins Rad9-Rad1-Hus1. Biochem. J. 400 (2006) 53-62
40. Xie Y., Yang H., Cunanan C., Okamoto K., Shibata D., Pan J., Barnes D.E., Lindahl T., McIlhatton M., Fishel R., and Miller J.H. Deficiencies in mouse Myh and Ogg1 result in tumor predisposition and G to T mutations in codon 12 of the K-ras oncogene in lung tumors. Cancer Res. 64 (2004) 3096-3102
41. Sieber O.M., Howarth K.M., Thirlwell C., Rowan A., Mandir N., Goodlad R.A., Gilkar A., Spencer-Dene B., Stamp G., Johnson V., Silver A., Yang H., Miller J.H., Ilyas M., and Tomlinson I.P. Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice. Cancer Res. 64 (2004) 8876-8881
42. Russo M.T., De Luca G., Degan P., Parlanti E., Dogliotti E., Barnes D.E., Lindahl T., Yang H., Miller J.H., and Bignami M. Accumulation of the oxidative base lesion 8-hydroxyguanine in DNA of tumor-prone mice defective in both the Myh and Ogg1 DNA glycosylases. Cancer Res. 64 (2004) 4411-4414
43. Nakabeppu Y., Sakumi K., Sakamoto K., Tsuchimoto D., Tsuzuki T., and Nakatsu Y. Mutagenesis and carcinogenesis caused by the oxidation of nucleic acids. Biol. Chem. 387 (2006) 373-379
44. Einolf H.J., and Guengerich F.P. Fidelity of nucleotide insertion at 8-oxo-7,8-dihydroguanine by mammalian DNA polymerase delta. Steady-state and pre-steady-state kinetic analysis. J. Biol. Chem. 276 (2001) 3764-3771
45. Parlanti E., Fortini P., Macpherson P., Laval J., and Dogliotti E. Base excision repair of adenine/8-oxoguanine mispairs by an aphidicolin-sensitive DNA polymerase in human cell extracts. Oncogene 21 (2002) 5204-5212
46. Hashimoto K., Tominaga Y., Nakabeppu Y., and Moriya M. Futile short-patch DNA base excision repair of adenine:8-oxoguanine mispair. Nucleic Acids Res. 32 (2004) 5928-5934
47. Matsuda T., Vande Berg B.J., Bebenek K., Osheroff W.P., Wilson S.H., and Kunkel T.A. The base substitution fidelity of DNA polymerase beta-dependent single nucleotide base excision repair. J. Biol. Chem. 278 (2003) 25947-25951
48. Fung H., and Demple B. A vital role for Ape1/Ref1 protein in repairing spontaneous DNA damage in human cells. Mol. Cell 17 (2005) 463-470
49. Demple B., and Sung J.S. Molecular and biological roles of Ape1 protein in mammalian base excision repair. DNA Repair (Amst) 4 (2005) 1442-1449
50. Chappell C., Hanakahi L.A., Karimi-Busheri F., Weinfeld M., and West S.C. Involvement of human polynucleotide kinase in double-strand break repair by non-homologous end joining. EMBO J. 21 (2002) 2827-2832
51. Whitehouse C.J., Taylor R.M., Thistlethwaite A., Zhang H., Karimi-Busheri F., Lasko D.D., Weinfeld M., and Caldecott K.W. XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair. Cell 104 (2001) 107-117
52. El-Khamisy S.F., Saifi G.M., Weinfeld M., Johansson F., Helleday T., Lupski J.R., and Caldecott K.W. Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature 434 (2005) 108-113
53. Rasouli-Nia A., Karimi-Busheri F., and Weinfeld M. Stable down-regulation of human polynucleotide kinase enhances spontaneous mutation frequency and sensitizes cells to genotoxic agents. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 6905-6910
54. el-Khamisy S.F., and Caldecott K.W. DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. Neuroscience 145 (2007) 1260-1266
55. Gueven N., Becherel O.J., Kijas A.W., Chen P., Howe O., Rudolph J.H., Gatti R., Date H., Onodera O., Taucher-Scholz G., and Lavin M.F. Aprataxin, a novel protein that protects against genotoxic stress. Hum. Mol. Genet. 13 (2004) 1081-1093
56. Clements P.M., Breslin C., Deeks E.D., Byrd P.J., Ju L., Bieganowski P., Brenner C., Moreira M.C., Taylor A.M., and Caldecott K.W. The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. DNA Repair (Amst) 3 (2004) 1493-1502
57. Ahel I., Rass U., El-Khamisy S.F., Katyal S., Clements P.M., McKinnon P.J., Caldecott K.W., and West S.C. The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature 443 (2006) 713-716
58. Takahashi T., Tada M., Igarashi S., Koyama A., Date H., Yokoseki A., Shiga A., Yoshida Y., Tsuji S., Nishizawa M., and Onodera O. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′-phosphoglycolate ends. Nucleic Acids Res. (2007)
59. Fearnhead N.S., Britton M.P., and Bodmer W.F. The ABC of APC. Hum. Mol. Genet. 10 (2001) 721-733
60. Al-Tassan N., Chmiel N.H., Maynard J., Fleming N., Livingston A.L., Williams G.T., Hodges A.K., Davies D.R., David S.S., Sampson J.R., and Cheadle J.P. Inherited variants of MYH associated with somatic G:C → T:A mutations in colorectal tumors. Nat. Genet. 30 (2002) 227-232
61. Cheadle J.P., and Sampson J.R. MUTYH-associated polyposis-from defect in base excision repair to clinical genetic testing. DNA Repair (Amst) 6 (2007) 274-279
62. Berwick M., and Vineis P. Markers of DNA repair and susceptibility to cancer in humans: an epidemiologic review. J. Natl. Cancer Inst. 92 (2000) 874-897
63. Spitz M.R., Wei Q., Dong Q., Amos C.I., and Wu X. Genetic susceptibility to lung cancer: the role of DNA damage and repair. Cancer Epidemiol. Biomarkers Prev. 12 (2003) 689-698
64. Hung R.J., van der Hel O., Tavtigian S.V., Brennan P., Boffetta P., and Hashibe M. Perspectives on the molecular epidemiology of aerodigestive tract cancers. Mutat. Res. 592 (2005) 102-118
65. Goode E.L., Ulrich C.M., and Potter J.D. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol. Biomarkers Prev. 11 (2002) 1513-1530
66. Hashimoto T., Uchida K., Okayama N., Imate Y., Suehiro Y., Hamanaka Y., Ueyama Y., Yamashita H., and Hinoda Y. Interaction of OGG1 Ser326Cys polymorphism with cigarette smoking in head and neck squamous cell carcinoma. Mol. Carcinogen. 45 (2006) 344-348
67. Weiss J.M., Goode E.L., Ladiges W.C., and Ulrich C.M. Polymorphic variation in hOGG1 and risk of cancer: a review of the functional and epidemiologic literature. Mol. Carcinogen. 42 (2005) 127-141
68. Paz-Elizur T., Krupsky M., Blumenstein S., Elinger D., Schechtman E., and Livneh Z. DNA repair activity for oxidative damage and risk of lung cancer. J. Natl. Cancer Inst. 95 (2003) 1312-1319
69. Paz-Elizur T., Ben-Yosef R., Elinger D., Vexler A., Krupsky M., Berrebi A., Shani A., Schechtman E., Freedman L., and Livneh Z. Reduced repair of the oxidative 8-oxoguanine DNA damage and risk of head and neck cancer. Cancer Res. 66 (2006) 11683-11689
70. Lehmann A.R. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie 85 (2003) 1101-1111
71. Kraemer K.H., Sander M., and Bohr V.A. New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging. Mech. Ageing Dev. 128 (2007) 229-235
72. Licht C.L., Stevnsner T., and Bohr V.A. Cockayne syndrome group B cellular and biochemical functions. Am. J. Hum. Genet. 73 (2003) 1217-1239
73. Laine J.P., and Egly J.M. When transcription and repair meet: a complex system. Trends Genet. 22 (2006) 430-436
74. Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R., Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell 82 (1995) 555-564
75. Groisman R., Polanowska J., Kuraoka I., Sawada J., Saijo M., Drapkin R., Kisselev A.F., Tanaka K., and Nakatani Y. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. Cell 113 (2003) 357-367
76. Gorbalenya A.E., Koonin E.V., Donchenko A.P., and Blinov V.M. Two related superfamilies of putative helicases involved in replication, recombination, repair and expression of DNA and RNA genomes. Nucleic Acids Res. 17 (1989) 4713-4730
77. Kamiuchi S., Saijo M., Citterio E., de Jager M., Hoeijmakers J.H., and Tanaka K. Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair. Proc. Natl. Acad. Sci. U.S.A. 99 (2002) 201-206
78. Dianov G., Bischoff C., Sunesen M., and Bohr V.A. Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells. Nucleic Acids Res. 27 (1999) 1365-1368
79. Tuo J., Muftuoglu M., Chen C., Jaruga P., Selzer R.R., Brosh Jr. R.M., Rodriguez H., Dizdaroglu M., and Bohr V.A. The Cockayne syndrome group B gene product is involved in general genome base excision repair of 8-hydroxyguanine in DNA. J. Biol. Chem. 276 (2001) 45772-45779
80. Tuo J., Jaruga P., Rodriguez H., Bohr V.A., and Dizdaroglu M. Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. FASEB J. 17 (2003) 668-674
81. Spivak G., and Hanawalt P.C. Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. DNA Repair (Amst) 5 (2006) 13-22
82. Citterio E., Van Den Boom V., Schnitzler G., Kanaar R., Bonte E., Kingston R.E., Hoeijmakers J.H., and Vermeulen W. ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor. Mol. Cell. Biol. 20 (2000) 7643-7653
83. Newman J.C., Bailey A.D., and Weiner A.M. Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling. Proc. Natl. Acad. Sci. U.S.A. 103 (2006) 9613-9618
84. Flohr C., Burkle A., Radicella J.P., and Epe B. Poly(ADP-ribosyl)ation accelerates DNA repair in a pathway dependent on Cockayne syndrome B protein. Nucleic Acids Res. 31 (2003) 5332-5337
85. Thorslund T., von Kobbe C., Harrigan J.A., Indig F.E., Christiansen M., Stevnsner T., and Bohr V.A. Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress. Mol. Cell. Biol. 25 (2005) 7625-7636
86. Fousteri M., Vermeulen W., van Zeeland A.A., and Mullenders L.H. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol. Cell 23 (2006) 471-482
87. Andressoo J.O., Mitchell J.R., de Wit J., Hoogstraten D., Volker M., Toussaint W., Speksnijder E., Beems R.B., van Steeg H., Jans J., de Zeeuw C.I., Jaspers N.G., Raams A., Lehmann A.R., Vermeulen W., Hoeijmakers J.H., and van der Horst G.T. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell 10 (2006) 121-132
88. Takashima H., Boerkoel C.F., John J., Saifi G.M., Salih M.A., Armstrong D., Mao Y., Quiocho F.A., Roa B.B., Nakagawa M., Stockton D.W., and Lupski J.R. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat. Genet. 32 (2002) 267-272
89. Hirano M., Yamamoto A., Mori T., Lan L., Iwamoto T.A., Aoki M., Shimada K., Furiya Y., Kariya S., Asai H., Yasui A., Nishiwaki T., Imoto K., Kobayashi N., Kiriyama T., Nagata T., Konishi N., Itoyama Y., and Ueno S. DNA single-strand break repair is impaired in aprataxin-related ataxia. Ann. Neurol. 61 (2007) 162-174
90. Moreira M.C., Barbot C., Tachi N., Kozuka N., Uchida E., Gibson T., Mendonca P., Costa M., Barros J., Yanagisawa T., Watanabe M., Ikeda Y., Aoki M., Nagata T., Coutinho P., Sequeiros J., and Koenig M. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat. Genet. 29 (2001) 189-193
91. Tullio-Pelet A., Salomon R., Hadj-Rabia S., Mugnier C., de Laet M.H., Chaouachi B., Bakiri F., Brottier P., Cattolico L., Penet C., Begeot M., Naville D., Nicolino M., Chaussain J.L., Weissenbach J., Munnich A., and Lyonnet S. Mutant WD-repeat protein in triple-A syndrome. Nat. Genet. 26 (2000) 332-335
92. Cronshaw J.M., and Matunis M.J. The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc. Natl. Acad. Sci. U.S.A. 100 (2003) 5823-5827
93. Hirano M., Furiya Y., Asai H., Yasui A., and Ueno S. ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome. Proc. Natl. Acad. Sci. U.S.A. 103 (2006) 2298-2303
94. Kovtun I.V., Liu Y., Bjoras M., Klungland A., Wilson S.H., and McMurray C.T. OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 447 (2007) 447-452
95. Agar N.S., Halliday G.M., Barnetson R.S., Ananthaswamy H.N., Wheeler M., and Jones A.M. The basal layer in human squamous tumors harbors more UVA than UVB fingerprint mutations: a role for UVA in human skin carcinogenesis. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 4954-4959
96. Narciso L., Fortini P., Pajalunga D., Franchitto A., Liu P., Degan P., Frechet M., Demple B., Crescenzi M., and Dogliotti E. Terminally differentiated muscle cells are defective in base excision repair and hypersensitive to oxygen injury. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 17010-17015