Unraveling DNA Repair in Human: Molecular Mechanisms and Consequences of Repair Defect

REFERENCES

• Aboussekhra, A., Biggerstaff, M., Shivji, M. K. K., Vilpo, J. A., Moncollin, V., Podust, V. N., Protic, M., Hubscher, U., Egly, J.-M., and Wood, R. D. (1995). Mammalian DNA nucleotide excision repair reconstituted with purified components. Cell, 80, 859868.
   Google Scholar
• Anderson, C. W. (1993). DNA damage and the DNA-activated protein kinase. Trends Biochem. Sci., 18, 433–437.
   Google Scholar
• Anderson, C. W. (1994). Protein kinases and the response to DNA damage. Semin. Cell Biol, 5, 427–436.
   Google Scholar
• Bardwell, A.J., Bardwell, L., Tomkinson, A. E., and Friedberg, E. C. (1994). Specific cleavage of model recombination and repair intermediates by the yeast Rad1 -Rad10 DNA endonuclease. Science, 265, 2082–2085.
   Google Scholar
• Barnes, D.E., Tomkinson, A. E., Lehmann, A. R., Webster, A. D. B., and Lindahl, T. (1992). Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. Cell, 69, 495–503.
   Google Scholar
• Berenburg, M., Lowe, J. E., Nardo, T., Araujo, S., Fousteri, M. I., Green, M. H. L., Krutmann, J., Wood, R. D., Stefanini, M., and Lehmann, A. R. (2000). UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome. EMBO J., 19,1157-1166.
   Google Scholar
• Blunt, T., Finnie, N. J., Taccioli, G. E., Smith, G. C. M., Demengeot, J., Gottlieb, T. M., Mizuta, R., Varghese, A. J., Alt, F. W., Jeggo, P. A., and Jackson, S. P. (1995). Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine SCID mutation. Cell, 80, 813823.
   Google Scholar
• Boubnov, N.V., Hall, K. T., Wills, Z., Lee, S. E., He, D. M., Benjamin, D. M., Pulaski, C. R., Band, H., Reeves, W., Hendrickson, E. A., and Weaver, D. T. (1995). Complementation of the ionizing radiation sensitivity, DNA end binding and V(D)J recombination defects of double-strand break repair mutants by the p86 Ku autoantigen. Proc. Natl. Acad. Sci. USA, 92, 890–894.
   Google Scholar
• Boyer, J.C., Kaufmann, W. K., Brylawski, B. P., and Cordeiro-Stone, M. (1990). Defective post-replication repair in xeroderma pigmentosum variant fibroblasts. Cancer Res, 50,2593-2598.
   Google Scholar
• Broughton, B.C., Steingrimsdottir, H., Weber, C., and Lehmann, A. R. (1994). Mutations in the xeroderma pigmentosum group D DNA repair gene in patients with trichothiodystrophy. Nature Genet., 7, 189–194.
   Google Scholar
• Broughton, B.C., Thompson, A. F., Harcourt, S. A., Vermeulen, W., Hoeijmakers, J. H. J., Botta, E., Stefanini, M., King, M. D., Weber, C. A., Cole, J., Arlett, C. F., and Lehmann, A. R. (1995). Molecular and cellular analysis of the DNA repair defect in a patient with xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am. J. Hum. Genet., 56, 167–174.
   Google Scholar
• Chen, E., Cleaver, J. E., Weber, C. A., Packman, S., Barkovich, A. J., Koch, T. K., Williams, M. L., Golabi, M., and Price, V. H. (1994). Trichothiodystrophy: clinical spectrum, central nervous system imaging and biochemical characterization of two siblings. J. Invest. Dermatol., 103, 15451585.
   Google Scholar
• Chrzanowska, K.H., Kleijer, W. J., Krajewska Walasek, M., Bialecka, M., Gutkowska, A., Goryluk Kozakiewicz, B., Michalkiewicz, J., Stachowski, J., Gregorek, H., Lyson Wojciechowska, G. et al., (1995). Eleven polish patients with microcephaly, immunodefficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am. J. Med. Genet., 57, 462–471.
   Google Scholar
• Chu, G., and Mayne, L. (1996). Xeroderma pigmentosum, cockayne syndrome and trichothiodystrophy: do the genes explain the diseases? Trends Genet, 12, 187–192.
   Google Scholar
• Cleaver, J. E. (1968). Defective repair replication in xeroderma pigmentosum. Nature, 218, 652–656.
   Google Scholar
• Cleaver, J. E. (2000). Common pathways for ultraviolet skin carcinogenesis in the repair and replication defective groups of xeroderma pigmentosum. J. Dermatol. Sci., 23, 1–11.
   Google Scholar
• Cleaver, J.E., Jen, J., Charles, W. C., and Mitchell, D. L. (1991). Cyclobutane dimers and (6-4) photoproducts in human cells are mended with the same patch sizes. Photochem. Photobiol, 54, 393–402.
   Google Scholar
• Cleaver, J.E., and Kraemer, K. H. (1994). Xe-roderma pigmentosum and Cockayne syndrome. In: Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., (Eds.), The Metabolic Basis of Inherited Disease, 7th ed., McGraw-Hill, New York.
   Google Scholar
• Cleaver, J. E. and States, J. C. (1997). The DNA damage-recognition problem in human and other eukaryotic cells: the XPA damage binding protein. Biochem. J, 328, 1–12.
   Google Scholar
• Coin, F., Marinoni, J. C., Rodolfo, C., Fribourg, S., Pedrini, A. M., and Egly, J. M. (1998). Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 sub-unit of TFIIH. Nature Genet., 20, 184188.
   Google Scholar
• Cooper, P.K., Nouspikel, T., Clarkson, S. G., and Leadon, S. A. (1997). Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G. Science, 275, 990–993.
   Google Scholar
• Cordeiro-Stone, M., Zaritskaya, L. S., Price, L. K., and Kaufmann, W. K. (1997). Replication fork bypass of a pyrimidine dimer blocking leading strand DNA synthesis. J. Biol. Chem, 272, 13945–13954.
   Google Scholar
• Cordonnier, A.M., and Fuchs, R. P. (1999). Replication of damaged DNA: molecular defect in xeroderma pigmentosum variant cells. Mutat. Res., 435, 111–119.
   Google Scholar
• Cordonnier, A., Lehmann, A. R., and Fuchs, R. P. P. (1999). Impaired translesion synthesis in xeroderma pigmentosum variant extracts. Mol. Cell. Biol., 19, 2206–2211.
   Google Scholar
• Coverley, D., Kenny, M. K., Lane, D. P., and Wood, R. D. (1992). A role for the human single-stranded DNA binding protein HSSB/ RPA in an early stage of nucleotide excision repair. Nucleic Acids Res., 20, 3873–3880.
   Google Scholar
• Cruz Martinez, A., and Anciones, B. (1991). Central motor pathways conduction after magnetic stimulation of the brain in Cockayne's syndrome. Acta. Neurol. Scand., 84, 291–294.
   Google Scholar
• Cullmann, G., Fien, K., Kobayashi, R., and Stillman, B. (1995). Characterization of the five replication factor C genes of Sac-charomyces cerevisiae. Mol. Cell Biol., 15, 4661–4671.
   Google Scholar
• Davies, A.A., Friedberg, E. C., Tomkinson, A.E., Wood, R. D., and West, S. C. (1995). Role of the Rad1 and Rad10 proteins in nucleotide excision repair and recombination. J. Biol. Chem., 270, 24638–24641.
   Google Scholar
• de Boer, J., de Wit, J., van Steeg, H., Berg, R. J., Morreau, H., Visser, P., Lehmann, A. R., Duran, M., Hoeijmakers, J. H., and Weeda, G. (1998a). A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol. Cell, 1, 981–990.
   Google Scholar
• de Boer, J., Donker, I., de Wit, J., Hoeijmakers, J. H. J., and Weeda, G. (1998b). Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Res., 58, 89–94.
   Google Scholar
• de Boer, J., and Hoeijmakers, J. H. J. (1999). Cancer from the outside, aging from the inside: mouse models to study the consequences of defective nucleotide excision repair. Biochimie, 81, 127–137.
   Google Scholar
• de Boer, J., and Hoeijmakers, J. H. J. (2000). Nucleotide excision repair and human syndromes. Carcinogenesis, 21, 453–460.
   Google Scholar
• de Boer, J., van Steeg, H., Berg, R. J., Garssen, J., de Wit, J., van Oostrum, C. T., Beems, R. B., van der Horst, G. T., van Kreijl, C. F., de Gruijl, F. R., Bootsma, D., Hoeijmakers, J. H., and Weeda, G. (1999). Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. Cancer Res., 59, 3489–3494.
   Google Scholar
• de Laat, W. L., Appeldoorn, E., Sugasawa, K., Weterings, E., Jaspers, N. G., and Hoeijmakers, J. H. (1998). DNA-binding polarity of human replication protein A positions nucleases in nucleotide excision repair. Genes Dev., 12, 2598–2609.
   Google Scholar
• DeSanctis, C., and Cacchione, A. (1932). I'idiozia xerodermica. Riv. Sper. Freniatr., 56, 269–292.
   Google Scholar
• De Weerd-Kastelein, E. A., Keijer, W., and Bootsma, D. (1972). Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridisation. Nature (London) New Biol., 238, 80–83.
   Google Scholar
• Digweed, M., Reis, A., and Sperling, K. (1999). Nijmegen breakage syndrome: consequences of defective DNA double strand break repair. Bioessays, 21, 649–656.
   Google Scholar
• Dizdaroglu, M. (1992). Measurement of radiation-induced damage to DNA at the molecular level. Int. J. Radiat. Biol., 61, 175–183.
   Google Scholar
• Doetsch, P. W. (1995). What's old is new: an alternative DNA excision repair pathway. Trends Biochem, Sci., 20, 384–386.
   Google Scholar
• Donahue, B.A., Yin, S., Taylor, J. S., Reines, D., and Hanawalt, P.C. (1994). Transcript cleavage by RNA polymerase II arrested by a cyclobutane pyrimidine dimer in the DNA template. Proc. Natl. Acad. Sci. USA, 91,8502-8506.
   Google Scholar
• Dresler, S.L., and Frattini, M. K. (1986). DNA replication and UV-induced DNA repair synthesis in human fibroblasts are much less sensitive than DNA polymerase alpha to inhibition by butylphenyl-deoxyguanosine triphosphate. Nucleic Acids Res., 14, 70937102.
   Google Scholar
• Eker, A. P. M., Vermeulen, W., Miura, N., Tanaka, K., Jaspers, N. G. J., Hoeijmakers, J. H. J., and Bootsma, D. (1992). Xero-derma pigmentosum group A correcting protein from calf thymus. Mut. Res., 274, 211–224.
   Google Scholar
• Evans, E., Moggs, J. G., Hwang, J. R., Egly, J.-M., and Wood, R. D. (1997). Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. EMBO J., 16, 6559–6573.
   Google Scholar
• Eveno, E., Bourre, F., Quilliet, X., Chevallier-Lagente, O., Roza, L., Eker, A., Kleijer, W., Nikaido, O., Stefanini, M., Hoeijmakers, J. H. J., Bootsma, D., Cleaver, J. E., Sarasin, A., and Mezzina, M. (1995). Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases. Cancer Res., 55, 4325–4332.
   Google Scholar
• Friedberg, E.C., Walker, G. C., and Seide, W. (1995). DNA Repair and Mutagenesis. Washington: ASM Press.
   Google Scholar
• Gibbs, P.E., McGregor, W. G., Maher, V. M., Nisson P., and Lawrence, C. W. (1998). A human homolog of the Saccharomyces cerevisiae REV3 gene, which encodes the catalytic subunit of DNA polymerase zeta. Proc. Natl. Acad. Sci. USA, 95, 6876–6880.
   Google Scholar
• Gillespie, J., and Marshall, R. (1983). A comparison of the proteins of normal and trichothiodystrophic human hair. J. Inves. Dermatol., 80, 195–202.
   Google Scholar
• Gorbalenya, A.E., and Koonin, E. V. (1993). Helicases: amino-acid sequence comparisons and structure-function relationships. Curr. Biol., 3, 419–429.
   Google Scholar
• Gu, H., Marth, J. D., Orban, P. C., Mossmann, H., and Rajewsky, K. (1994). Deletion of a DNA polymerase beta gene segment in T cells using cell type-specific gene targeting. Science, 265, 103–106.
   Google Scholar
• Guzder, S.N., Habraken, Y., Sung, P., Prakash, L., and Prakash, S. (1996). RAD26, the yeast homolog of human Cockayne's syndrome group B gene, encodes a DNA-dependent ATPase. J. Biol. Chem., 271, 18314–18317.
   Google Scholar
• Habraken, Y., Sung, P., Prakash, S., and Prakash, L. (1996). Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome. Proc. Natl. Acad. Sci. USA,, 93, 10718–10722.
   Google Scholar
• Hanawalt, P. C. (2000). DNA repair, The bases for Cockayne syndrome. Nature, 405, 415416.
   Google Scholar
• Hansson, J., Munn, M., Rupp, W.D., Kahn, R., and Wood, R. D. (1989). Localization of DNA repair synthesis by human cell extracts to a short region at the site of a lesion. J. Biol. Chem., 264, 21788–21792.
   Google Scholar
• Harada, Y.N., Shiomi, N., Koike, M., Ikawa, M., Okabe, M., Hirota, S., Kitamura, Y., Kitagawa, M., Matsunaga, T., Nikaido, O., and Shiomi, T. (1999). Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xero-derma pigmentosum group G gene. Mol. Cell. Biol., 19, 2366–2372.
   Google Scholar
• Hartley, K.O., Gell, D., Smith, G. C. M., Zhang, H., Divecha, N., Connelly, M. A., Admon, A., Lees-Miller, S. P., Anderson, C. W., and Jackson, S. P. (1995). DNA-depen-dent protein kinase catalytic subunit: a relative of phospatidyl inositol 3-kinase and the ataxia telangiectasia gene product. Cell, 82, 849–856.
   Google Scholar
• He, Z., Henrickson, L., A., Wold, M. S., and Ingles, C. J. (1995). RPA involvement in the damage-recognition and incision steps of nucleotide excision repair. Nature, 374, 566–569.
   Google Scholar
• Henning, K.A., Li, L., Iyer, N., McDaniel, L., Reagan, M. S., Legerski, R., Schultz, R. A., Stefanini, M., Lehmann, A. R., Mayne, L. V., and Friedberg, E. C. (1995). 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, 555–564.
   Google Scholar
• Hoeijmakers, J. H. J. (1993). Nucleotide excision repair II: from yeast to mammals. Trends Genet, 9, 211–217.
   Google Scholar
• Huang, J.C., Svoboda, D. L., Reardon, J. T., and Sancar, A. (1992). Human nucleotide excision nuclease removes thymine dimers by hydrolyzing the 22nd phosphodiester bond 5' and the 6th phosphodister bond 3' to the photodimer. Proc. Natl. Acad. Sci. USA, 89, 3664–3668.
   Google Scholar
• Hubscher, U. and Spadari, S. (1994). DNA replication and chemotherapy. Physiol. Rev., 74, 259–304.
   Google Scholar
• Hubscher, U. and Thommes, P. (1992). DNA polymerase e: in search of a function. Trends Biochem. Sci., 17, 55–58.
   Google Scholar
• Hunting, D.J., Gowans, B. J., and Dressler S. L. (1991). DNA polymerase delta mediates excision repair in growing cells damaged with ultraviolet radiation. Biochem. Cell Biol., 69, 303–308.
   Google Scholar
• Itin, P.H., and Pittelkow, M. R. (1990). Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J. Amer. Acad. Dermat., 22, 705–717.
   Google Scholar
• Iyer, N., Reagan, M. S., Wu, K.-J., Canagarajah, B., and Freidberg, E. C. (1996). Interactions involving the human RNA poly-merase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG and Cockayne syndrome group B (CSB) protein. Biochemistry, 35, 2157–2167.
   Google Scholar
• Johnson, R.E., Kondratick, C. M., Prakash S., and Prakash, L. (1999a). hRAD30 mutations in the variant form of xeroderma pigmentosum. Science, 285, 263–265.
   Google Scholar
• Johnson, R.E., Prakash, S., and Prakash, L. (1999b), Requirement of DNA polymerase activity of yeast Rad30 protein for its biological function. J. Biol. Chem., 274, 15975–15977.
   Google Scholar
• Jones, C.J., and Wood, R. D. (1993). Preferential binding of the xeroderma pigmentosum group A complementing protein to damaged DNA. Biochemistry, 32, 12096–12104.
   Google Scholar
• Keeney, S., Chang, G. J., and Linn, S. (1993). Characterization of a human DNA damage binding protein implicated in xero-derma pigmentosum E. J. Biol. Chem., 268,21293-21300.
   Google Scholar
• Keeney, S., and Linn, S. (1990). A critical review of permeabilized cell systems for studying mammalian DNA repair. Mut. Res., 236, 239–252.
   Google Scholar
• Kelman, Z. (1997). PCNA: structure, functions and interactions. Oncogene, 14, 629–640.
   Google Scholar
• Kelman, Z. and O'Donnell, M. (1994). DNA replication: enzymology and mechanisms. Curr. Opin. Genet. Dev., 4, 185195.
   Google Scholar
• Kim, Y.-J., Snyder, R. O., and Wold, M. S. (1992). Binding properties of replication protein-A from human and yeast cells. Mol. Cell. Biol., 12, 3050–3059.
   Google Scholar
• Kraemer, K. H. (1997). Sunlight and skin cancer: another link revealed. Proc. Natl. Acad. Sci. USA, 94, 11–14.
   Google Scholar
• Kraemer, K.H., Lee, M. M., and Scotto, J. (1987). Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch. Dermatol., 123, 241–250.
   Google Scholar
• Lafforet, D. and Dupuy, J. M. (1978). Photosensibilite et reparation de l'AND: possibilite d'une parente nostologique entre xeroderma pigmentosum et syndrome de Cockayne. Arch. Franc. Pediatr. (Suppl.), 35, 65–74.
   Google Scholar
• Lawrence, C. W. and Hinkle, D. C. (1996). DNA polymerase zeta and the control of DNA damage induced mutagenesis in eu-karyotes. Cancer Surv., 28, 21–31.
   Google Scholar
• Leadon, S. A. and Cooper, P. K. (1993). 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, 90, 10499–10503.
   Google Scholar
• Leech, R.W., Brumback, R. A., Miller, R. H., Otsuka, F., Tarrone, R. E., and Robbins, J. H. (1985). Cockayne syndrome: clinico-pathologic and tissue culture studies of affected siblings. J. Neuropathol. Exp. Neurol., 44, 507–519.
   Google Scholar
• Lehmann, A. R. (1982). Three complementation groups in Cockayne syndrome. Mutat. Res., 106, 347–356.
   Google Scholar
• Lehmann, A. R. (1995). Nucleotide excision repair and the link with transcription. Trends Biochem. Sci., 20, 402–405.
   Google Scholar
• Lehmann, A. R. (1998). Dual functions of DNA repair genes: molecular, cellular and clinical implications. Bioessays, 20, 146–155.
   Google Scholar
• Lehmann, A. R. and Carr, A. M. (1995). The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer. Trends Genet., 11, 375–377.
   Google Scholar
• Lehmann, A.R., Kirk-Bell, S., and Mayne, L. (1979). Abnormal kinetics of DNA synthesis in ultraviolet light irradiated cells from patients with Cockayne syndrome. Cancer Res., 3, 4237
   Google Scholar
• Le Page, F., Kwoh, E. E., Avrutskaya, A., Gentil, A., Leadon, S. A., Sarasin, A., and Cooper, P. K. (2000). Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome. Cell, 101, 159171.
   Google Scholar
• Lieber, M. R. (1991). Site-specific recombination in the immune system. FASEB J, 5, 2934–2944.
   Google Scholar
• Lindahl, T., and Barnes, D. E. (1992). Mammalian DNA ligases. Annu. Rev. Biochem., 61, 251–281.
   Google Scholar
• Lindahl, T., Karran, P., and Wood, R. D. (1997). DNA excision repair pathways. Curr. Opin. Genet. Dev., 7, 158–169.
   Google Scholar
• Lindahl, T., and Wood, R. D. (1999). Quality control by DNA repair. Science, 286, 1897–1905.
   Google Scholar
• Lowndes, N. F. and Murguia, J. R. (2000). Sensing and responding to DNA damage. Curr. Opin. Genet. Dev., 10, 17–25.
   Google Scholar
• Madzak, C., Armier, J., Stary, A., Daya-Grosjean, L., and Sarasin, A. (1993). UV-induced mutations in a shuttle vector replicated in repair deficient trichothiodystrophy cells differ with those in genetically related cancer prone Xeroderma pigmentosum. Car-cinogenesis, 14, 1255–1260.
   Google Scholar
• Marionnet, C., Armier, J., Sarasin, A., and Stary, A. (1998). Cyclobutane pyrimidine dimers are the main mutagenic DNA photoproducts in DNA repair-deficient trichothiodystrophy cells. Cancer Res., 58, 102–108.
   Google Scholar
• Marionnet, C., Benoit, A., Benhamou, S., Sarasin, A., and Stary, A. (1995). Characteristics of UV-induced mutation spectra in human XP-D/ ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells. J. Mol. Biol, 252, 550–562.
   Google Scholar
• Marionnet, C., Quilliet, X., Benoit, A., Armier, J., Sarasin, A., and Stary, A. (1996). Recovery of normal DNA repair and mu-tagenesis in trichothiodystrophy cells after transduction of the XPD human gene. Cancer Res., 56, 5450–5456.
   Google Scholar
• Masutani, C., Araki, M., Yamada, A., Kusomoto, R., Nogimori, T., Maekawa, T., Iwai, S., and Hanaoka, F. (1999a). Xeroderma pigmentosum variant (XP-V) correcting protein from HeLa cells has a thymine dimer bypass DNA polymerase activity. EMBO J, 18, 3491–3501.
   Google Scholar
• Masutani, C., Kusumoto, R., Yamada, A., Dohmae, N., Yokoi, M., Yuasa, M., Araki, M., Iwai, S., Takio, K., and Hanaoka, F. (1999b). The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase eta. Nature, 399, 700–704.
   Google Scholar
• Mayne, L. V. and Lehmann, A. R. (1982). 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, 1473–1478.
   Google Scholar
• McWhir, J., Selfridge, J., Harrison, D.J., Squires, S., and Melton, D.W. (1993). Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning. Nat. Genet.,5, 217-224.
   Google Scholar
• Mitchell, D. L. and Nairn, R. S. (1989). The biology of the (6-4) photoproduct. Photochem. Photobiol., 49, 805–819.
   Google Scholar
• Nance, M. A. and Berry, S. A. (1992). Cockayne syndrome: review of 140 cases. Am. J. Med. Genet, 42, 68–84.
   Google Scholar
• Neer, E.J., Schmidt, C. J., Nambudripad, R., and Smith, T. F. (1994). The ancient regulatory-protein family of WD-repeat proteins. Nature, 371, 297–300.
   Google Scholar
• Nicholas, A. F. and Sancar, A. (1992). Purification of PCNA as a nucleotide excision repair protein. Nucleic Acids Res., 20, 2441–2446.
   Google Scholar
• Nishida, C., Reinhard, P., and Linn, S. (1988). DNA repair synthesis in human fibroblasts requires DNA polymerase delta. J. Biol. Chem., 263, 501–510.
   Google Scholar
• Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., and Clarkson, S.G. (1997). A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. Proc. Natl. Acad. Sci., USA, 94, 3116–3121.
   Google Scholar
• O'Donnel, M., Onrust, R., Dean, F.B., Chen, M., and Hurwitz, J. (1993). Homology in accessory proteins of replicative poly-merases—E. coli to humans. Nucleic Acids Res., 21, 1–3.
   Google Scholar
• O'Donovan, A., Davies, A. A., Mogges, J. G., West, S. C., and Wood, R. D. (1994a). XPG endonuclease makes the 3' incision in human nucleotide excision repair. Nature, 371, 432–435.
   Google Scholar
• O'Donovan, A., Scherly, D., Clarkson, S. G., and Wood, R. D. (1994b). Isolation of active recombinant XPG protein, a human DNA repair endonuclease. J. Biol. Chem., 269,15965-15968.
   Google Scholar
• O' Driscoll, M., Humbert, O., and Karran, P. In: DNA Repair, F. Eckstein and D. M. J. Lilley, Eds (Springer-Verlag, Berlin, 1998) pp. 173-197.
   Google Scholar
• Otsuka, F. and Robbins, J. H. (1985). The Cockayne syndrome-an inherited multisystem disorder with cutaneous photosen-sitivity and defective repair of DNA. Comparison with xeroderma pigmentosum. Am. J. Dermopathol., 7, 387–392.
   Google Scholar
• Park, C.-H., Mu, D., Reardon, J. T., and Sancar, A. (1995). The general transcription factor TFIIH is recruited to the excision repair complex by the XPA protein independent of the TFIIE transcription factor. J. Biol. Chem., 270, 4896–4902.
   Google Scholar
• Pearl, L. H. and Savva, R. (1995). DNA repair in three dimensions. Trends Biochem. Sci., 20, 421–426.
   Google Scholar
• Petrini, J. H. J., Xiao, Y., and Weaver, D. T. (1995). DNA ligase I mediates essential functions in mammalian cells. Mol. Cell Biol, 15, 4303–4308.
   Google Scholar
• Pfeifer, G.P., Drouin, R., Riggs, A. D., and Holmquist, G. P. (1991). In vivo mapping of a DNA adduct at nucleotide resolution: detection of pyrimidine (6-4) pyrimidone photoproducts by ligation mediated poly-merase chain reaction. Proc. Natl. Acad. Sci. USA,, 88, 1374–1378.
   Google Scholar
• Podust, L.M., Podust, V. N., Floth, C., and Hubscher, U. (1994) Assembly of DNA polymerase delta and epsilon holoenzymes depends on the geometry of DNA template. Nucleic Acids Res., 22, 2970–2975.
   Google Scholar
• Popanda, O. and Thielmann, H. W. (1992). The function of DNA polymerase in DNA repair synthesis of ultraviolet-irradiated human fibroblasts. Biochem. Biophys. Acta, 1129,155-160.
   Google Scholar
• Protic-Sabljic, M., Tuteja, N., Munson, P. J., Hauser, J., Kraemer, K. H., and Dixon, K. (1986). UV light-induced cyclobutane pyrimidine dimers are mutagenic in mammalian cells. Mol. Cell. Biol., 6, 33493356.
   Google Scholar
• Quilliet, X., Chevallier-Lagente, O., Eveno, E., Stojkovic, T., Destee, A., Sarasin, A., and Mezzina, M. (1996). Long-term complementation of DNA repair deficient human primary fibroblasts by retroviral transduc-tion of the XPD gene. Mutat. Res., 364, 161 -169.
   Google Scholar
• Rathmell, W. K. and Chu, G. (1994). Involvement of Ku autoantigen in the cellular response to DNA double-strand breaks. Proc. Natl. Acad. Sci. USA, 91, 76237627.
   Google Scholar
• Reardon, J.T., Bessho, T., Kung, H. C., Bolton, P. H., and Sancar, A. (1997). In vitro repair of oxidative DNA damage by human nucleotide excision repair system: possible explanation for neurodegeneration in xe-roderma pigmentosum patients. Proc. Natl. Acad. Sci. USA,, 94, 9463–9468.
   Google Scholar
• Robbins, J.H., Brumback, R. A., Mendiones, M., Barrett, S. F., Carl, J. R., Cho, S., Denckla, M. B., Ganges, M. B., Gerber, L. H., Guthrie, R. A., Meer, J., Moshell, A. N., Polinsky, R. J., Ravin, P. D., Sonies, B. C., and Tarone, R. E. (1991). Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form. Brain, 114, 13351361.
   Google Scholar
• Robbins, J.H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., and Coon, H. G. (1974). Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal repair. Ann. Intern. Med., 80, 221–248.
   Google Scholar
• Robins, P., Jones, C. J., Biggerstaff, M., Lindahl, T., and Wood, R. D. (1991). Complementation of DNA repair in xeroderma pigmentosum group A cell extracts by a protein with affinity for damaged DNA. EMBO J., 10, 3913–3921.
   Google Scholar
• Roy, R., Schaeffer, L., Humbert, S., Vermeulen, W, Weeda, G., and Egly, J.-M. (1994). The DNA-dependent ATPase activity associated with the class II basic transcription factor BTF2/TFIIH. J. Biol. Chem., 269, 9826–9832.
   Google Scholar
• Sancar, A. and Hearst, J. E. (1993). Molecular matchmakers. Science, 259, 1415–1420.
   Google Scholar
• Sancar, G. B. (1990). DNA photolyases: physical properties, action mechanism and roles in dark repair. Mutat. Res., 236, 147–160.
   Google Scholar
• Schaeffer, L., Moncollin, V., Roy, R., Staub, A., Mezzina, M., Sarasin, A., Weeda, G., Hoeijmakers, J. H. J., and Egly, J. M. (1994). The ERCC2/DNA repair protein associated with the class II BTF2/TFIIH transcription factor. EMBO J., 13, 23882392.
   Google Scholar
• Schaeffer, L., Roy, R., Humbert, S., Moncollin, V., Vermeulen, W., Hoeijmakers, J. H. J., Chambon, P., and Egly, J. (1993). DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science, 260, 58–63.
   Google Scholar
• Scherly, D., Nouspikel, T., Corlet, J., Ucla, C., Bairoch, A., and Clarkson, S. G. (1993). Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. Nature, 363, 182–185.
   Google Scholar
• Sebastiaan Winkler, G. and Hoeijmakers, J. H. J. (1998). From a DNA helicase to brittle hair. Nature Genet., 20, 106–107.
   Google Scholar
• Seeberg, E., Eide, L., and Bjoras, M. (1995). The base excision repair pathway. Trends Biochem. Sci., 20, 391–397.
   Google Scholar
• Shiloh, Y. (1997). Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. Annu. Rev. Genet., 31, 635–662.
   Google Scholar
• Shivji, M.K.K., Kenny, M. K., and Wood, R. D. (1992). Proliferating cell nuclear antigen is required for DNA excision repair. Cell, 69, 367–374.
   Google Scholar
• Shivji, M.K.K., Podust, V. N., Hubscher, U., and Wood, R. D. (1995). Nucleotide excision repair DNA synthesis by DNA poly-merase epsilon in the presence of PCNA, RFC, and RPA. Biochemistry, 34, 50115017.
   Google Scholar
• Sijbers, A.M., de Laat, W. L., Ariza, R. R., Bifferstaff, M., Wei, Y. F., Moggs, J. G., Carter, K. C., Shell, B. K., Evans, E., de Jong, M. C., Rademakers, S., de Rooij, J., Jaspers, N. G., Hoeijmakers, J. H., and Wood, R. D. (1996). Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell, 86, 811–822.
   Google Scholar
• Stefanini, M., Lagomarisini, P., Gilliani, S., Nardo, T., Botta, E., Peserico, A., Kleyer, W. J., Lehmann, A. R., and Sarasin, A. (1993a). Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy. Carcinogenesis, 14, 1101–1105.
   Google Scholar
• Stefanini, M., Vermeulen, W., Weeda, G., Giliani, S., Nardo, T., Mezzina, M., Sarasin, A., Harper, J. L., Arlett, C. F., Hoeijmakers, J. H. J., and Lehmann, A. R. (1993b). A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy. Am. J. Hum. Genet., 53, 817–821.
   Google Scholar
• Sugasawa, K., Ng, J. M., Masutani, C., Iwai, S., van der Spek, P. J., Eker, A. P. M., Hanaoka, F., Bootsma, D., and Hoeijmakers, J. H. J. (1998). Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair. Mol. Cell, 2, 223–232.
   Google Scholar
• Sung, P., Bailly, V., Weber, C., Thompson, L. H., Prakash, L., and Prakash, S. (1993). Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature, 365, 852–855.
   Google Scholar
• Svoboda, D.L., Briley, L. P., and Vos, J. M. (1998). Defective bypass replication of a leading strand cyclobutane thymine dimer in xeroderma pigmentosum variant cell extracts. Cancer Res., 58, 2445–2448.
   Google Scholar
• Svoboda, D.L., Taylor, J. S., Hearst, J. E., and Sancar, A. (1993). DNA repair by eukaryotic excision nuclease: removal of thymine dimer and psoralen monoadduct by HeLa cell free extract and of thymine dimer by Xenopus laevis oocytes. J. Biol. Chem, 268, 1931–1936.
   Google Scholar
• Swift, M., Morrell, D., Massey, R. B., and Chase, C. L. (1991). Incidence of cancer in families with ataxia-telangiectasia. N. Engl. J. Med., 325, 1831–1836.
   Google Scholar
• Syvaoja, J., Suomensaari, S., Nishida, C., Goldsmith, J. S., Chui, G. S., Jain, S., and Linn, S. (1990). DNA polymerases alpha, delta, and epsilon: three distinct enzymes from HeLa cells. Proc. Natl. Acad. Sci. USA, 87, 6664–6668.
   Google Scholar
• Szymkowski, D.E., Hajibagheri M. A., and Wood, R. D. (1993a). Electron microscopy of DNA excision repair patches produced by human cell extracts. J. Mol. Biol., 231,251-260.
   Google Scholar
• Szymkowski, D.E., Lawrence, C. W., and Wood, R. D. (1993b). Repair by human cell extracts of single (6-4) and cyclobutane thymine-thymine photoproducts in DNA. Proc. Natl. Acad. Sci. USA, 90, 98239827.
   Google Scholar
• Taccioli, G.E., Gottlieb, T. M., Blunt, T., Priestley, A., Demengeot, J., Mizuta, R., Lehmann, A. R., Alt, F. W., Jackson, S. P., and Jeggo, P. A. (1994). Ku80 product of the XRCC5 gene and its role in DNA repair and V(D)J recombination. Science, 265, 1442–1445.
   Google Scholar
• Takayama, K., Salazar, E. P., Broughton, B. C., Lehmann, A. R., Sarasin, A., Thompson, L. H., and Weber, C. A. (1996). Defects in the DNA repair and transcription gene ERCC2 (XPD) in trichothiodystrophy. Am. J. Hum. Genet., 58, 263–270.
   Google Scholar
• Tanaka, K., Kawai, Y., Kumahara, Y., Ikenaga, M., and Okada, Y. (1981). Genetic complementation groups in Cockayne syndrome. Som. Cell Genet., 7, 445–455.
   Google Scholar
• Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., and Okada, Y. (1990). Analysis of a human DNA excision repair gene involved in group A xero-derma pigmentosum and containing a zinc finger domain. Nature, 348, 73–76.
   Google Scholar
• Tanaka, K., Satokata, I., Ogita, Z., Uchida, T., and Okada, Y. (1989). Molecular cloning of a mouse DNA repair gene that complements the defect of group A xeroderma pigmentosum. Proc. Natl. Acad. Sci. USA, 86,5512-5516.
   Google Scholar
• Taylor, E.M., Broughton, B. C., Botta, E., Stefanini, M., Sarasin, A., Jaspers, N. G., Fawcett, H., Harcourt, S. A., Arlett, C. F., and Lehmann, A. R. (1997). Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc. Natl. Acad. Sci., USA, 94, 8658–8663.
   Google Scholar
• Teo, I., Sedgwick, B., Demple, B., Li, B., and Lindahl, T. (1984). Induction of resistance to alkylating agents in E. coli: the ada+ gene product serves both as a regulatory protein and as an enzyme for repair of mutagenic damage. EMBO J, 3, 21512157.
   Google Scholar
• Th'ng, J. P. H. and Walker, I. G. (1986). Excision repair of DNA in the presence of aphidicolin. Mutat. Res., 165, 139–150.
   Google Scholar
• Todo, T. (1999). Functional diversity of the DNA photolyase/blue light receptor family. Mutat. Res., 434, 89–97.
   Google Scholar
• Tolmie, J.L., de Berker, D., Dawber, R., Galloway, C., Gregory, D. W., Lehmann, A. R., McClure, J., Pollitt, J. R., and Stephenson, J. P. B. (1994). Syndromes associated with trichothiodystrophy. Clin. Dysmorphol., 3, 1–14.
   Google Scholar
• Troelstra, C., van Gool, A., de Wit, J., Vermeulen, W., Bootsma, D., and Hoeijmakers, J. H. J. (1992). ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne syndrome and preferential repair of active genes. Cell, 71, 939–953.
   Google Scholar
• Tuteja, R. and Tuteja, N. (2000). Ku autoantigen: a multifunctional DNA-binding protein. Crit. Rev. Biochem. Mol. Biol., 35, 1–33.
   Google Scholar
• Tuteja, N., Tuteja, R., Ochem, A., Taneja, P., Huang, N. W., Simocsits, A., Susic, S., Rahman, K., Marusic, L., Chen, J., Zhang, J., Wang, S., Pongor S., and Falaschi, A. (1994). Human DNA helicase II — a novel DNA unwinding enzyme identified as the Ku autoantigen. EMBO J, 13, 4991–5001.
   Google Scholar
• Van Dyck, E., Stasiak, A. Z., Stasiak, A., and West, S.C. (1999). Binding of double-strand breaks in DNA by human Rad52 protein. Nature, 398, 728–731.
   Google Scholar
• van Gent, D. C., McBlane, J. F., Ramsden, D. A., Sadofsky, M. J., Hesse, J. E., and Gellert, M. (1995). Initiation of V(D)J recombination in a cell-free system. Cell, 81, 925–934.
   Google Scholar
• van Hoffen, A., Natarajan, A. T., Mayne, L. V., van Zeeland, A. A., Mullenders, L. H. F., and Venema, J. (1993). Defecient repair of the transcribed strand of active genes in Cockayne syndrome. Nucleic Acids Res., 21, 5890–5895.
   Google Scholar
• Varon, R., Vissinga, C., Platzer, M., Cersaletti, K. M., Chrzanowska, K. H., Saar, K., Beckmann, G., Seemanova, E., Cooper, P. R., Nowak, N.J., Stumm, M., Weemaes, C. M., Gatti, R. A., Wilson, R. K., Digweed, M., Rosenthal, A., Sperling, K., Concannon, P., and Reis, A. (1998). Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell, 93, 467–476.
   Google Scholar
• Venema, J., Mullenders, L. H. F., Natarajan, A. T., van Zeeland, A. A., and Mayne, L. V. (1990). 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, 4707–4711.
   Google Scholar
• Vermeulen, W., Stefanini, M., Giliani, S., Hoeijmakers, J. H. J., and Bootsma, D. (1991) . Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat. Res, 255, 201–208.
   Google Scholar
• Vermeulen, W., van Vuuren, A. J., Chipoulet, M., Schaeffer, L., Appeldoorn, E., Weeda, G., Jaspers, N. G., Priestley, A., Arlett, C. F., Lehmann, A. R., Stefanini, M., Mezzina, M., Sarasin, A., Bootsma, D., Egly, J.-M., and Hoeijmakers, J. H. J. (1994). Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome. Cold Spring Harb. Symp. Quant. Biol., 59, 317–329.
   Google Scholar
• Vuillaume, M., Daya-Grosjean, L., Vincens, P., Pennetier, J., Tarroux, P., Baret, A., Calvayrac, R., Taieb, A., and Sarasin, A. (1992). Striking differences in cellular cata-lase activity between two DNA repair-deficient diseases: xeroderma pigmentosum and trichothiodystrophy. Carcinogenesis, 13, 321–328.
   Google Scholar
• Wang, Y.-C., Maher, V. M., Mitchell, D. L., and McCormick, J. (1993). Evidence from mutation spectra that the UV hypermut-ability of xeroderma pigmentosum variant cells reflects abnormal, error-prone replication on a template containing photoprod-ucts. Mol. Cell. Biol., 13, 4276–4283.
   Google Scholar
• Weber, C.A., Salazer, E. P., Stewart, S. A., and Thompson, L. H. (1990). ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. EMBO J, 9, 1437–1447.
   Google Scholar
• Weeda, G., Donker, I., de Wit, J., Morreau, H., Janssens, R., Vissers, C. J., Nigg, A., van Steeg, H., Bootsma, D., and Hoeijmakers, J. H. J. (1997a). Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Curr. Biol, 7, 427–439.
   Google Scholar
• Weeda, G., Eveno, E., Donker, I., Vermeulen, W., Chevallier-Lagente, O., Taieb, A., Stary, A., Hoeijmakers, J. H., Mezzina, M., and Sarasin, A., (1997b). A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am. J. Hum. Genet, 60, 320–329.
   Google Scholar
• Weeda, G., Van Ham, R. C. A., Vermeulen, W., Bootsma, D., Van der Eb, A. J., and Hoeijmakers, J. H. J. (1990). A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xero-derma pigmentosum and Cockayne's syndrome. Cell, 62, 777–791.
   Google Scholar
• Wood, R. D. (1995). Proteins that participate in nucleotide excision repair of DNA in mammalian cells. Philos. Trans. R. Soc. Lond. B. Biol. Sci., 347, 69–74.
   Google Scholar
• Wood, R. D. (1996). DNA repair in eukaryotes. Annu. Rev. Biochem.,65, 135-167.
   Google Scholar
• Woods, C.G. (1998). DNA repair disorders. Arch. Dis. Child, 78, 178–184.
   Google Scholar
• Xu, H., Swoboda, I., Bhalla, P. L., Sijbers, A. M., Zhao, C., Ong, E.-K., Hoeijmakers, J. H. J., and Singh, M. B. (1998). Plant ho-mologue of human excision repair gene ERCC1 points to conservation of DNA repair mechanisms. Plant J, 13, 823–829.
   Google Scholar
• Yagi, T., Wood, R. D., and Takebe, H. (1997). A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells. Mutagenesis, 12, 41–44.
   Google Scholar
• Yasui, A., and Eker, A. P. M. (1998). DNA photolyases. In DNA damage and Repair, Vol. II, Nickoloff, J. A. and Hoekstra, M. F., Eds)., Totowa: Humana Press, pp. 9–32.
   Google Scholar
• Yong, S.L., Cleaver, J. E., Tullis, G. D., and Johnston, M. M. (1984). Is trichothiodystrophy part of the xeroderma pigmentosum spectrum? Am. J. Hum. Genet, 36, 82s.
   Google Scholar