The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome

Free Radical Biology and Medicine

Volumn 43, Issue 2, 2007, Pages 165-177

  Frosina, Guido ^a  

^a UNIVERSITY OF GENOA   (Italy)

Author keywords

8 Oxo 7,8 dihydroguanine; Aging; Cockayne syndrome; DNA base excision repair; Free radicals; Glycosylase; Mutation; Neurological deterioration; Oxidative DNA damage; Transcription coupled repair

Indexed keywords

8 HYDROXYGUANINE; DNA GLYCOSYLTRANSFERASE; FREE RADICAL;

COCKAYNE SYNDROME; COMPUTER ASSISTED TOMOGRAPHY; DNA DAMAGE; EXCISION REPAIR; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MUTAGENESIS; NONHUMAN; OXIDATIVE STRESS; PRIORITY JOURNAL; REVIEW;

BRAIN; COCKAYNE SYNDROME; DNA DAMAGE; DNA REPAIR; FEMALE; HUMANS; MALE; MUTAGENESIS; TRANSCRIPTION, GENETIC;

EID: 34250903644     PISSN: 08915849     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.freeradbiomed.2007.04.001     Document Type: Review

References (148)

1. Cockayne E.A. Dwarfism with retinal atrophy and deafness. Arch. Dis. Child. 11 (1936) 1-8
2. Tan W.H., Baris H., Robson C.D., and Kimonis V.E. Cockayne syndrome: the developing phenotype. Am. J. Med. Genet. 135 (2005) 214-216
3. Pasquier L., Laugel V., Lazaro L., Dollfus H., Journel H., Edery P., Goldenberg A., Martin D., Heron D., Le Merrer M., Rustin P., Odent S., Munnich A., Sarasin A., and Cormier-Daire V. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Arch. Dis. Child. 91 (2006) 178-182
4. Sonmez F.M., Celep F., Ugur S.A., and Tolun A. Severe form of Cockayne syndrome with varying clinical presentation and no photosensitivity in a family. J. Child Neurol. 21 (2006) 333-337
5. Scaioli V., D'Arrigo S., and Pantaleoni C. Unusual neurophysiological features in Cockayne's syndrome: a report of two cases as a contribution to diagnosis and classification. Brain Dev. 26 (2004) 273-280
6. Nance M.A., and Berry S.A. Cockayne syndrome: review of 140 cases. Am. J. Med. Genet. 42 (1992) 68-84
7. Ozdirim E., Topcu M., Ozon A., and Cila A. Cockayne syndrome: review of 25 cases. Pediatr. Neurol. 15 (1996) 312-316
8. Cleaver J.E. Cancer in xeroderma pigmentosum and related disorders of DNA repair. Nat. Rev. Cancer 5 (2005) 564-573
9. Leibeling D., Laspe P., and Emmert S. Nucleotide excision repair and cancer. J. Mol. Histol. 37 (2006) 225-238
10. Andressoo J.O., Hoeijmakers J.H.J., and Mitchell J.R. Nucleotide excision repair disorders and the balance between cancer and aging. Cell Cycle 5 (2006) 2886-2888
11. Lindebaum Y., Dickson D., Rosenbaum P., Kraemer K., Robbins I., and Rapin I. Xeroderma pigmentosum/Cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur. J. Paediatr. Neurol. 5 (2001) 225-242
12. 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
13. Lehmann A.R. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie 85 (2003) 1101-1111
14. Arenas-Sordo Mde L., Hernandez-Zamora E., Montoya-Perez L.A., and Aldape-Barrios B.C. Cockayne's syndrome: a case report. Literature review. Med. Oral. Patol. Oral. Cir. Bucal. 11 (2006) E236-E238
15. Rapin I., Weidenheim K., Lindenbaum Y., Rosenbaum P., Merchant S.N., Krishna S., and Dickson S.W. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J. Child Neurol. 21 (2006) 991-1006
16. Stefanini M., Fawcett H., Botta E., Nardo T., and Lehmann A.R. Genetic analysis of UV hypersensitivity in twenty-two patients with Cockayne syndrome. Hum. Genet. 97 (1996) 418-423
17. Bohr V.A., Sander M., and Kraemer K.H. Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer. DNA Repair 4 (2005) 293-302
18. Kleijer W.J., van der Sterre M.L., Garritsen V.H., Raams A., and Jaspers N.G. Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience. Prenat. Diagn. 26 (2006) 980-984
19. 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., and Friedberg E.C. 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
20. Neer E.J., Schmidt C.J., Nambudripad R., and Smith T.F. The ancient regulatory-protein family of WD-repeat proteins. Nature 371 (1994) 297-300
21. Troelstra C., Odijk H., de Wit J., Westerveld A., Thompson L.H., Bootsma D., and Hoeijmakers J.H.J. Molecular cloning of the human DNA excision repair gene ERCC-6. Mol. Cell. Biol. 10 (1990) 5806-5813
22. Troelstra C., van Gool A., de Wit J., Vermeulen W., Bootsma D., and Hoeijmakers J.H.J. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 71 (1992) 939-953
23. Cao H., Williams C., Carter M., and Hegele R.A. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. J. Hum. Genet. 49 (2004) 61-63
24. Ren Y., Saijo M., Nakatsu Y., Nakai H., Yamaizumi M., and Tanaka K. Three novel mutations responsible for Cockayne syndrome group A. Genes Genet. Syst. 78 (2003) 93-102
25. Komatsu A., Suzuki S., Inagaki T., Yamashita K., and Hashizume K. A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene. Am. J. Med. Genet. A 128 (2004) 67-71
26. Ridley A.J., Colley J., Winford-Thomas D., and Jones C.J. Characterization of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. J. Hum. Genet. 50 (2005) 151-154
27. Kleppa, L.; Kanavin, O. J.; Klungland, A.; Stromme, P. A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience (in press); 2007.
28. Mahmoud A.A., Yousef G.M., Al-Hifzi I., and Diamandis E.P. Cockayne syndrome in three sisters with varying clinical presentation. Am. J. Med. Genet. 111 (2002) 81-85
29. Bertola D.R., Cao H., Albano L.M., Oliveira D.P., Kok F., Marques-Dias M.J., Kim C.A., and Hegele R.A. Cockayne syndrome type A: novel mutations in eight typical patients. J. Hum. Genet. 51 (2006) 701-705
30. Kraemer, K. H.; Patronas, N. J.; Schiffmann, R.; Brooks, B. P.; Tamura, D.; Digiovanna, J. J. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience (in press); 2007.
31. Mallery D., Tanganelli B., Colella S., Steingrimsdottir H., van Gool A.J., Troelstra C., Stefanini M., and Lehmann A.R. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am. J. Hum. Genet. 62 (1998) 77-85
32. Colella S., Nardo T., Mallery D., Borrone C., Ricci R., Ruffa G., Lehmann A.R., and Stefanini M. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. Hum. Mol. Genet. 8 (1999) 935-941
33. Vermeulen W., Scott R.J., Rodgers S., Muller H.J., Cole J., Arlett C.F., Kleijer W.J., Bootsma D., Hoeijmakers J.H.J., and Weeda G. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am. J. Hum. Genet. 54 (1994) 191-200
34. Rapin I., Lindenbaum Y., Dickson D.W., Kraemer K.H., and Robbins J.H. Cockayne syndrome and xeroderma pigmentosum. Neurology 55 (2000) 1442-1449
35. Colella S., Nardo T., Botta E., Lehmann A.R., and Stefanini M. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum. Hum. Mol. Genet. 9 (2000) 1171-1175
36. Meira L.B., Graham J.M., Greenberg C.R., Busch D.B., Doughty A.T.B., Ziffer D.W., Coleman D.M., Savre-Train I., and Friedberg E.C. Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am. J. Hum. Genet. 66 (2000) 1221-1222
37. Horibata K., Iwamoto Y., Kuraoka I., Jaspers N.G., Kurimasa A., Oshimura M., Ichihashi M., and Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc. Natl. Acad. Sci. USA 101 (2004) 15410-15415
38. Spivak G. The many faces of Cockayne syndrome. Proc. Natl. Acad. Sci. USA 101 (2004) 15273-15274
39. Lin Y.W., Kubota M., Hirota H., Furusho K., Tomiwa K., Ochi J., Kasahara Y., Sasaki H., and Ohta S. Somatic cell mutation frequency at the HPRT, T-cell antigen receptor and glycophorin A loci in Cockayne syndrome. Mutat. Res. 337 (1995) 49-55
40. Lin Y.W., Kubota M., Akiyama Y., Sawada M., and Furusho K. Measurement of mutation frequency at the HPRT locus in peripheral lymphocytes. Is this a good method to evaluate a cancer risk in pediatric patients?. Adv. Exp. Med. Biol. 431 (1998) 681-686
41. Dollè M.E., Busuttil R.A., Garcia A.M., Wijnhoven S., van Drunen E., Niedernhofer L.J., van der Horst G., Hoeijmakers J.H., van Steeg H., and Vijg J. Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice. Mutat. Res. 596 (2006) 22-35
42. Trapp, C.; Reite, K.; Klungland, A.; Epe, B. Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice. Oncogene (in press); 2007.
43. Kim N., Kage K., Matsuda F., Lefranc M.P., and Storb U. B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes. J. Exp. Med. 186 (1997) 413-419
44. Mayne L.V., and Lehmann A.R. Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. Cancer Res. 42 (1982) 1473-1478
45. Venema J., Mullenders L.H.F., Natarajan A.T., van Zeel A.A., and Mayne L.V. 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 87 (1990) 4707-4711
46. Yu S.-L., Lee S.-K., Johnson R.E., Prakash L., and Prakash S. The stalling of transcription at abasic sites is highly mutagenic. Mol. Cell. Biol. 23 (2003) 382-388
47. Brueckner F., Hennecke U., Carell T., and Cramer P. CPD damage recognition by transcribing RNA polymerase II. Science 315 (2007) 859-862
48. Svejstrup J.Q. Mechanisms of transcription-coupled DNA repair. Nat. Rev. Mol. Cell. Biol. 3 (2002) 21-29
49. Kozmin S., Slezak G., Reynaud-Angelin A., Elie C., de Rycke Y., Boiteux S., and Sage E. UVA radiation is highly mutagenic in cells that are unable to repair 7,8-dihydro-8-oxoguanine in Saccharomyces cerevisiae. Proc. Natl. Acad. Sci. USA 102 (2005) 13538-13543
50. Liu F., Yu Z.J., Sui J.L., Bai B., and Zhou P.K. siRNA-mediated silencing of Cockayne syndrome group B gene potentiates radiation-induced apoptosis and antiproliferative effect in HeLa cells. Chin. Med. J. 119 (2006) 731-739
51. Deaconescu A.M., Chambers A.L., Smith A.J., Nickels B.E., Hochschild A., Savery N.J., and Darst S.A. Structural basis for bacterial transcription-coupled repair. Cell 124 (2006) 507-520
52. Deaconescu A.M., Savery N., and Darst S.A. The bacterial transcription repair coupling factor. Curr. Opin. Struct. Biol. 17 (2007) 96-102
53. Lainé J.P., and Egly J.M. When transcription and repair meet: a complex system. Trends Genet. 22 (2006) 430-436
54. 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
55. Wittschieben B.O., and Wood R.D. DDB complexities. DNA Repair 2 (2003) 1065-1069
56. Kamiuchi S., Sajo 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. USA 99 (2002) 201-206
57. Saijo M., Hirai T., Ogawa A., Kobayashi A., Kamiuchi S., and Tanaka K. Functional TFIIH is required for UV-induced translocation of CSA to nuclear matrix. Mol. Cell. Biol. 27 (2007) 2538-2547
58. Fousteri M., Vermeulen W., van Zeel A.A., and Mullenders L.H. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodelling and repair factors to stalled RNA polymerase II in vivo. Mol. Cell 23 (2006) 471-482
59. Schwechheimer C. The COP9 signalosome (CSN): an evolutionarily conserved proteolysis regulator in eukaryotic development. Biochim. Biophys. Acta 1695 (2004) 45-54
60. Groisman R., Kuraoka I., Chevallier O., Gaye N., Magnaldo T., Tanaka K., Kisselev A.F., Harel-Bellan A., and Nakatani Y. CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. Genes Dev. 20 (2006) 1429-1434
61. Christiansen M., Thorslund T., Jochimsen B., Bohr V.A., and Stevnsner T. The Cockayne syndrome group B protein is a functional dimer. FEBS J. 272 (2005) 4306-4314
62. van den Boom V., Citterio E., Hoogstraten D., Zotter A., Egly J.M., van Cappellen W.A., Hoeijmakers J.H.J., Houtsmuller A.B., and Vermeulen W. DNA damage stabilizes interaction of CSB with the transcription elongation machinery. J. Cell Biol. 166 (2004) 27-36
63. Muftuoglu M., Selzer R., Tuo J., Brosh Jr. R.M., and Bohr V.A. Phenotypic consequences of mutations in the conserved motifs of the putative helicase domain of the human Cockayne syndrome group B gene. Gene 283 (2002) 27-40
64. Lainé J.P., and Egly J.M. Initiation of DNA repair mediated by a stalled RNA polymerase IIO. EMBO J. 25 (2006) 387-397
65. Muftuoglu M., Sharma S., Thorslund T., Stevnsner T., Soerensen M.M., Brosh Jr. R.M., and Bohr V.A. Cockayne syndrome group B protein has novel strand annealing and exchange activities. Nucleic Acids Res. 34 (2006) 295-304
66. Griffin C., Waard H., Deans B., and Thacker J. The involvement of key DNA repair pathways in the formation of chromosome rearrangements in embryonic stem cells. DNA Repair 4 (2005) 1019-1027
67. Domizio D., Filippi S., Lorenti-Garcia C., Proietti-De Santis L., and Palitti F. Role of CSB protein in repairing mitomycin-C (MMC) induced DNA crosslinks. Proceedings of 8th Federazione Italiana Scienze Vita (FISV) Conference (2006) D05.01 [Abstract]
68. Fousteri M., van Hoffen A., Vargova H., and Mullenders L.H. Repair of DNA lesions in chromosomal DNA: impact of chromatin structure and Cockayne syndrome proteins. DNA Repair 4 (2005) 919-925
69. 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. USA 103 (2006) 9613-9618
70. Proietti-De Santis L., Drane P., and Egly J.M. Cockayne syndrome B protein regulates the transcriptional program after UV irradiation. EMBO J. 25 (2006) 1915-1923
71. van Hoffen A., Balajee A.S., van Zeeland A.A., and Mullenders L.H. Nucleotide excision repair and its interplay with transcription. Toxicology 193 (2003) 79-90
72. Cleaver, J. E.; Hefner, E.; Laposa, R. R.; Karentz, D.; Marti, T. Cockayne syndrome exhibits dysregulation of p21 and other gene products that may be independent of transcription-coupled repair. Neuroscience (in press); 2007.
73. 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
74. D'Errico M., Lemma T., Calcagnile A., Santis L.P., and Dogliotti E. Cell type and DNA damage specific response of human skin cells to environmental agents. Mutat. Res. 614 (2007) 37-47
75. Ferguson B.E., and Oh D.H. Proficient global nucleotide excision repair in human keratinocytes but not in fibroblasts deficient in p53. Cancer Res. 65 (2005) 8723-8729
76. Nickoloff B.J., Qin J.Z., Chaturvedi V., Bacon P., Panella J., and Denning M.F. Life and death signaling pathways contributing to skin cancer. J. Invest. Dermatol. Symp. Proc. 7 (2002) 27-35
77. van der Horst G.T., Meira L., Gorgels T.G., de Wit J., Velasco-Miguel S., Richardson J.A., Kamp Y., Vreeswijk M.P., Smit B., Bootsma D., Hoeijmakers J.H., and Friedberg E.C. UVB radiation-induced cancer predisposition in Cockayne syndrome group A (CSA) mutant mice. DNA Repair 1 (2002) 143-157
78. Wijnhoven S.W., Kool H.J., van Oostrom C.T., Beems R.B., Mullenders L.H., van Zeeland A.A., van der Horst G.T., Vrieling H., and van Steeg H. The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice. Cancer Res. 60 (2000) 5681-5687
79. Wijnhoven S.W., Kool H.J., Mullenders L.H., Slater R., van Zeeland A.A., and Vrieling H. DMBA-induced toxic and mutagenic responses vary dramatically between NER-deficient Xpa, Xpc and Csb mice. Carcinogenesis 22 (2001) 1099-1106
80. Lu Y., Lian H., Sharma P., Schreiber-Agus N., Russell R.G., Chin L., van der Horst G.T., and Bregman D.B. Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice. Mol. Cell. Biol. 21 (2001) 1810-1818
81. Wijnhoven S.W., Hoogervorst E.M., de Waard H., van der Horst G.T., and Van Steeg H. Tissue specific mutagenic and carcinogenic responses in NER defective mouse models. Mutat. Res. 614 (2007) 77-94
82. Cooper P.K., Nouspikel T., Clarkson S.G., and Leadon S.A. Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science 275 (1997) 990-993
83. Gowen L.C., Avrutskaya A.V., Latour A.M., Koller B.H., and Leadon S.A. BRCA1 required for transcription-coupled repair of oxidative DNA damage. Science 281 (1998) 1009-1012
84. Le Page F., Kwoh E.E., Avrutskaya A., Gentil A., Leadon S.A., Sarasin A., and Cooper P.K. Transcription-coupled repair of 8-oxoguanine:requirement for XPG, TFIIH and CSB and implications for Cockayne syndrome. Cell 101 (2000) 159-171
85. Gowen L.C., Avrutskaya A.V., Latour A.M., Koller B.H., and Leadon S.A. BRCA1 required for transcription-coupled repair of oxidative DNA damage: retraction. Science 300 (2003) 1657
86. Cozzarelli N.R. Editorial expression of concern: preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome. Proc. Natl. Acad. Sci. USA 100 (2003) 11816
87. Le Page F., Kwoh E.E., Avrutskaya A., Gentil A., Leadon S.A., Sarasin A., and Cooper P.K. Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH and CSB and implications for Cockayne syndrome: retraction. Cell 123 (2005) 711
88. Cooper P.K., Nouspikel T., and Clarkson S.G. Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G: retraction. Science 308 (2005) 1740
89. Tornaletti S., Maeda L.S., Lloyd D.R., Reines D., and Hanawalt P.C. Effect of thymine glycol on transcription elongation by T7 RNA polymerase and mammalian RNA polymerase II. J. Biol. Chem. 276 (2001) 45367-45371
90. Larsen E., Kwon K., Coin F., Egly J.M., and Klungland A. Transcription activities at 8-oxoG lesions in DNA. DNA Repair 3 (2004) 1457-1468
91. Bregeon D., Doddridge Z.A., You H.J., Weiss B., and Doetsch P.W. Transcriptional mutagenesis induced by uracil and 8-oxoguanine in Escherichia coli. Mol. Cell 12 (2003) 959-970
92. Frosina G. Prophylaxis of oxidative DNA damage by formamidopyrimidine DNA glycosylase. Int. J. Cancer 119 (2006) 1-7
93. Zhou W., and Doetsch P.W. Effects of abasic sites and DNA single-strand breaks on prokaryotic RNA polymerases. Proc. Natl. Acad. Sci. USA 90 (1993) 6601-6605
94. Fujimoto M., Leech S.N., Theron T., Mori M., Fawcett H., Botta E., Nozaki Y., Yamagata T., Moriwaki S., Stefanini M., Momoi M.Y., Nakagawa H., Shuster S., Moss C., and Lehmann A.R. Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features. J. Invest. Dermatol. 125 (2005) 86-92
95. Oh K.S., Khan S.G., Jaspers N.G., Raams A., Ueda T., Lehmann A., Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A., Baker C.C., and Kraemer K.H. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. Hum. Mutat. 27 (2006) 1092-1103
96. van Hoffen A., Kalle W.H., Jong-Versteeg A., Lehmann A.R., van Zeeland A.A., and Mullenders L.H. Cells from XP-D and XP-D CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription. Nucleic Acids Res. 27 (1999) 2898-2904
97. Marini F., Nardo T., Giannattasio M., Minuzzo M., Stefanini M., Plevani P., and Muzi Falconi M. DNA nucleotide excision repair-dependent signaling to checkpoint activation. Proc. Natl. Acad. Sci. USA 103 (2006) 17325-17330
98. Theron T., Fousteri M., Volker M., Harries L.W., Botta E., Stefanini M., Fujimoto M., Andressoo J.-O., Mitchell J., Jaspers N.G.J., McDaniel L.D., Mullenders L.H., and Lehmann A.R. Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome. Mol. Cell. Biol. 25 (2005) 8368-8378
99. Klungland A., Hoss M., Gunz D., Constantinou A., Clarkson S.G., Doetsch P.W., Bolton P.H., Wood R.D., and Lindahl T. Base excision repair of oxidative DNA damage activated by the XPG protein. Mol. Cell 3 (1999) 33-42
100. Clarkson S.G. The XPG story. Biochimie 85 (2003) 1113-1121
101. Lalle P., Nouspikel T., Constantinou A., Thorel F., and Clarkson S.G. The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. J. Invest. Dermatol. 118 (2002) 344-351
102. Emmert S., Slor H., Busch D.B., Batko S., Albert R.B., Coleman D., Khan S.G., Abu-Libdeh B., DiGiovanna J.J., Cunningham B.B., Lee M.M., Crollick J., Inui H., Ueda T., Hedayati M., Grossmann L., Shahlavi T., Cleaver J.E., and Kraemer K.H. Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. J. Invest. Dermatol. 118 (2002) 972-982
103. Thorel F., Constantinou A., Dunand-Sauthier I., Nouspikel T., Lalle P., Raams A., Jaspers N.G., Vermeulen W., Shivji M.K., Wood R.D., and Clarkson S.G. Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage. Mol. Cell. Biol. 24 (2004) 10670-10680
104. Shiomi N., Kito S., Oyama M., Matsunaga T., Harada Y.N., Ikawa M., Okabe M., and Shiomi T. Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method. Mol. Cell. Biol. 24 (2004) 3712-3719
105. Shiomi N., Mori M., Kito S., Harada Y.N., Tanaka K., and Shiomi T. Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg. DNA Repair 4 (2005) 351-357
106. Sarker A.H., Tsutakawa S.E., Kostek S., Ng C., Shin D.S., Peris M., Campeau E., Tainer J.A., Nogales E., and Cooper P.K. Recognition of RNA polymerase II and transcription bubbles by XPG, CSB and TFIIH: insights for transcription-coupled repair and Cockayne syndrome. Mol. Cell 20 (2005) 187-198
107. Dizdaroglu M. Base-excision repair of oxidative DNA damage by DNA glycosylases. Mutat. Res. 591 (2005) 45-49
108. Wilson, D. M., III; McNeill, D. R. Base excision repair and the central nervous system. Neuroscience (in press); 2007.
109. Fishel M.L., Vasko M.R., and Kelley M.R. DNA repair in neurons: so if they don't divide what's to repair?. Mutat. Res. 614 (2007) 24-36
110. D'Errico, M.; Parlanti, E.; Teson, M.; Degan, P.; Lemma, T.; Calcagnile, A.; Iavarone, I.; Jaruga, P.; Ropolo, M.; Pedrini, A. M.; Frosina, G.; Zambruno, G.; Dizdaroglu, M.; Stefanini, M.; Dogliotti, E. The role of CSA in the response to oxidative DNA damage in human cells. Oncogene (in press); 2007.
111. 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 5 (2006) 13-22
112. De Waard H., de Wit J., Andressoo J.-O., van Oostrom C.T.M., Riis B., Weimann A., Poulsen H.E., van Steeg H., Hoeijmakers J.H.J., and van der Horst G.T.J. Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage. Mol. Cell. Biol. 24 (2004) 7941-7948
113. Ropolo, M.; Degan, P.; Foresta, M.; D'Errico, M.; Dogliotti, E.; Zupo, S.; Poggi, A.; Frosina, G. Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by E. coli formamidopyrimidine DNA glycosylase. Free Radic. Biol. Med. (in press); 2007.
114. Tuo J., Muftoglu 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
115. Selzer R.R., Nyaga S., Tuo J., May A., Muftuoglu M., Christiansen M., Citterio E., Brosh Jr. R.M., and Bohr V.A. Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells. Nucleic Acids Res. 30 (2002) 782-793
116. De Waard H., de Wit J., Gorgels T.G., van der Aardweg G., Andressoo J.O., Vermeij M., van Steeg H., Hoeijmakers J.H., and van der Horst G.T. Cell type-specific hypersensitivity to oxidative damage in CSB and XPA mice. DNA Repair 2 (2003) 13-25
117. Lu Y., Mani S., Kandimalla E.R., Yu D., Agrawal S., States J.C., and Bregman D.B. The Cockayne syndrome group B DNA repair protein as an anti-cancer target. Int. J. Oncol. 19 (2001) 1089-1097
118. Mosesso P., Penna S., Pepe G., Lorenti-Garcia C., and Palitti F. Potassium bromate but not X-rays cause unexpectedly elevated levels of DNA breakage similar to those induced by ultraviolet light in Cockayne syndrome (CS-B) fibroblasts. Cytogenet. Genome Res. 104 (2004) 178-181
119. Kawanishi S., and Murata M. Mechanism of DNA damage induced by bromate differs from general types of oxidative stress. Toxicology 221 (2006) 172-178
120. Balajee A.S., Dianova I., and Bohr V.A. Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells. Nucleic Acids Res. 27 (1999) 4476-4482
121. 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
122. Tuo J., Chen C., Zeng X., Christiansen M., and Bohr V.A. Functional crosstalk between hOGG1 and the helicase domain of Cockayne syndrome group B protein. DNA Repair 1 (2002) 913-927
123. Sunesen M., Stevnsner T., Brosh Jr. R.M., Dianov G.L., and Bohr V.A. Global genome repair of 8-oxoG in hamster cells requires a functional CSB gene product. Oncogene 21 (2002) 3571-3578
124. Pouget J.P., Frelon S., Ravanat J.L., Testard I., Odin F., and Cadet J. Formation of modified DNA bases in cells exposed either to gamma radiation or to high-LET particles. Radiat. Res. 157 (2002) 589-595
125. Tuo J., Jaruga P., Rodriguez H., Dizdaroglu M., and Bohr V.A. The Cockayne syndrome group B gene product is involved in cellular repair of 8-hydroxyadenine in DNA. J. Biol. Chem. 277 (2002) 30832-30837
126. 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
127. Douki T., Ravanat J.L., Pouget J.P., Testard I., and Cadet J. Minor contribution of direct ionization to DNA base damage induced by heavy ions. Int. J. Radiat. Biol. 82 (2006) 119-127
128. Brosh Jr. R.M., Balajee A.S., Selzer R.R., Sunesen M., Proietti De Santis L., and Bohr V.A. The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair. Mol. Biol. Cell. 10 (1999) 3583-3594
129. Christiansen M., Stevnsner T., Modin C., Martensen P.M., Brosh Jr. R.M., and Bohr V.A. Functional consequences of mutations in the conserved SF2 motifs and post-translational phosphorylation of the CSB protein. Nucleic Acids Res. 31 (2003) 963-973
130. Kyng K.J., May A., Brosh Jr. R.M., Cheng W.H., Chen C., Becker K.G., and Bohr V.A. The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells. Oncogene 22 (2003) 1135-1149
131. Perrier S., Hau J., Gasparutto D., Cadet J., Favier A., and Ravanat J.L. Characterization of lysine-guanine cross-links upon one-electron oxidation of a guanine-containing oligonucleotide in the presence of a trilysine peptide. J. Am. Chem. Soc. 129 (2006) 5703-5710
132. Regulus P., Spessotto S., Gateau M., Cadet J., Favier A., and Ravanat J.-L. Detection of new radiation-induced DNA lesions by liquid chromatography coupled to tandem mass spectrometry. Rapid Commun. Mass Spectrom. 18 (2004) 2223-2228
133. 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
134. 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 I in the response to oxidative stress. Mol. Cell. Biol. 25 (2005) 7625-7636
135. Stuart J.A., and Brown M.F. Mitochondrial DNA maintenance and bioenergetics. Biochim. Biophys. Acta 1757 (2006) 79-89
136. Stevnsner T., Nyaga S., de Souza-Pinto N.C., van der Horst G.T., Gorgels T.G., Hogue B.A., Thorslund T., and Bohr V.A. Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B. Oncogene 21 (2002) 8675-8682
137. Spivak G., Itoh T., Matsunaga T., Nikaido O., Hanawalt P., and Yamaizumi M. Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers. DNA Repair 1 (2002) 629-643
138. Spivak G. UV-sensitive syndrome. Mutat. Res. 577 (2005) 162-169
139. Parsons J.L., and Elder R.H. DNA N-glycosylase deficient mice: a tale of redundancy. Mutat. Res. 531 (2003) 165-175
140. 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
141. Gorgels T.G., van der Pluijm I., Brandt R.M., Garinis G.A., van Steeg H., van den Aaardweg 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
142. 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., Zeeuw deC.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
143. 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. USA 104 (2007) 1389-1394
144. Hayashi M., Itoh M., Araki S., Kumada S., Shioda K., Tamagawa K., Mizutani T., Morimatsu Y., Minagawa M., and Oda M. Oxidative stress and disturbed glutamate transport in hereditary nucleotide repair disorders. J. Neuropathol. Exp. Neurol. 60 (2001) 350-356
145. Hayashi M., Araki S., Kohyama J., Shioda K., and Fukatsu R. Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum A and Cockayne syndrome. Brain Dev. 27 (2005) 34-38
146. Marchetto M.C., Muotri A.R., Burns D.K., Friedberg E.C., and Menck C.F. Gene transduction in skin cells: preventing cancer in xeroderma pigmentosum mice. Proc. Natl. Acad. Sci. USA 101 (2004) 17759-17764
147. Armelini M.G., Muotri A.R., Marchetto M.C., de Lima-Bessa K.M., Sarasin A., and Menck C.F. Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus. Cancer Gene Ther. 12 (2005) 389-396
148. Ledoux, S. P.; Druzhyna, N. M.; Hollensworth, S. B.; Harrison, J. F.; Wilson, G. L. Mitochondrial DNA repair: a critical player in the response of cells of the CNS to genotoxic insults. Neuroscience (in press); 2007.