Dual functions of DNA repair genes: Molecular, cellular, and clinical implications

BioEssays

Volumn 20, Issue 2, 1998, Pages 146-155

  Lehmann, A R ^a  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR II; TRANSCRIPTION FACTOR IIH;

BIOLOGICAL MODEL; DNA DAMAGE; DNA REPAIR; GENETIC DISORDER; GENETIC TRANSCRIPTION; GENETICS; HAIR; MOLECULAR EVOLUTION; MUTATION; PATHOLOGY; PHYSIOLOGY; REVIEW; XERODERMA PIGMENTOSUM;

DNA DAMAGE; DNA REPAIR; EVOLUTION, MOLECULAR; GENETIC DISEASES, INBORN; HAIR; MODELS, GENETIC; MUTATION; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS, TFII; TRANSCRIPTION, GENETIC; XERODERMA PIGMENTOSUM;

EID: 0032006182     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1521-1878(199802)20:2<146::AID-BIES7>3.0.CO;2-R     Document Type: Review

References (66)

1. Seeberg, E., Eide, L., and Bjoras, M. (1995) The base excision repair pathway. TIBS 20:391-397.
2. Lindahl, T., Karran, P., and Wood, R.D. (1997) DNA excision repair pathways. Curr Opin Genet Dev 7: 158-169.
3. Schaeffer, L., Roy, R., Humbert, S., Moncollin, V., Vermeulen, W., Hoeijmakers, J.H.J., Chambon, P., and Egly, J.-M. (1993) DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260:58-63.
4. Hoeijmakers, J.H.J., Egly, J.-M., and Vermeulen, W. (1996) TFIIH: A key component in multiple DNA transactions. Curr Opin Genet Dev 6: 26-33.
5. Barnes, D.E., Tomkinson, A.E., Lehmann, A.R., Webster, A.D.B., and Lindahl, T. (1992) Mutations in the DNA ligase 1 gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA damaging agents. Cell 69:495-503.
6. Lindahl, T., Prigent, C., Barnes, D.E., Lehmann, A.R., Satoh, M.S., Roberts, E., Nash, R.A., Robins, P., and Daly, G. (1993) DNA joining in mammalian cells. Cold Spring Harbor Symp Quant Biol 58:619-624.
7. Teo, I.A., Arlett, C.F., Harcourt, S.A., Priestley, A., and Broughton, B. (1983) Multiple hypersensitivity to mutagens in a cell strain (46BR) derived from a patient with immuno-deficiencies. Mutation Res 107:371-386.
8. Bentley, D.J., Selfridge, J., Millar, J.K., Samuel, K., Hole, N., Ansell, J.D., and Melton, D.W. (1996) DNA ligase 1 is required for fetal liver erythropoiesis but is not essential for mammalian cell viability. Nature Gene 13:489-491.
9. Petrini, J.H.J., Xiao, Y., and Weaver, D.T. (1995) DNA ligase 1 mediates essential functions in mammalian cells. Mol Cell Biol 15:4303-4308.
10. Sijbers, A.M., de Laat, W.L., Ariza, R.R., Biggerstaff, 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.J., Hoeijmakers, J.H.J., and Wood, R.D. (1996) Xerderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell 86:811-822.
11. 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.
12. 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.
13. Fishman-Lobell, J., and Haber, J.E. (1992) Removal of nonhomologous DNA ends in double-strand break recombination: The role of the yeast ultraviolet repair gene RAD1. Science 258:480-484.
14. 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.
15. 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. Nature Gen 5:217-223.
16. 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. (1997) Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. Curr Biol 7:427-439.
17. Kelman, Z. (1997) PCNA: Structure, functions and interactions. Oncogene 14:629-640.
18. 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.
19. Ayyagari, R., Impellizzeri, K.J., Yoder, B.L., Gary, S.L., and Burgers, P.M.J. (1995) A mutational analysis of the yeast proliferating cell nuclear antigen indicates distinct roles in DNA replication and DNA repair. Mol Cell Biol 15:4420-4429.
20. Nakanishi, M., Robertorye, R.S., PereiraSmith, O.M., and Smith, J.R. (1995) The C-terminal region of p21 (SD11/WAF1/CIP1) is involved in proliferating cell nuclear antigen binding but does not appear to be required for growth inhibition. J Biol Chem 270:17060-17063.
21. Li, X., Li, J., Harrington, J., Lieber, M.R., and Burgers, P.M.J. (1995) Lagging strand DNA synthesis at the eukaryotic replication fork involves binding and stimulation of FEN-1 by proliferating cell nuclear antigen. J Biol Chem 270:22109-22112.
22. Jeggo, A.P., Taccioli, G.E., and Jackson, S.P. (1995) Menage à trois: Double strand break repair, V(D)J recombination and DNA-PK. Bioessays 17:949-957.
23. 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-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product. Cell 82:849-856.
24. Blunt, T., Gell, D., Fox, M., Taccioli, G.E., Jackson, S.P., Lehmann, A.R., and Jeggo, P.A. (1996) Identification of a nonsense mutation in the carboxy-terminal region of DNA-dependent protein kinase catalytic subunit in the seid mouse. Proc Natl Acad Sci USA 93:10285-10290.
25. Danska, J.S., Holland, D.P., Mariathasan, S., Williams, K.M., and Guidos, C.J. (1996) Biochemical and genetic defects in the DNA-dependent protein kinase in murine scid lymphocytes. Mol Cell Biol 16: 5507-5517.
26. Araki, R., Fujimori, A., Hamatani, K., Mita, K., Saito, T., Mori, M., Fukumura, R., Morimyo, M., Muto, M., Itoh, M., Tatsumi, K., and Abe, M. (1997) Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice. Proc Natl Acad Sci USA 94:2438-2443.
27. Thacker, J. (1994) Cellular radiosensitivity in ataxia-telangiectasia. Int J Radiat Biol 66:S87-S96.
28. Lehmann, A.R., and Carr, A.M. (1995) The ataxia-telangiectasia gene: a link between checkpoint controls, neurodegeneration and cancer. TIG 11:375-377.
29. Savitsky, K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D.A., Smith, S., Uziel, T., Sfez, S., Ashkenazi, M., Pecker, I., Frydman, M., Harnik, R., Patanjali, S.R., Simmons, A., Clines, G.A., Sartiel, A., Gatti, R.A., Chessa, L., Sanal, O., Lavin, M.F., Jaspers, N.G.J., Taylor, M.R., Arlett, C.F., Miki, T., Weissman, S.M., Lovett, M., Collins, F.S., and Shiloh, Y. (1995) A single ataxia telangiectasia gene with a product similar to Pl 3-kinase. Science 268:1749-1753.
30. Bridges, B.A., and Harnden, D.G. (1982) Ataxia-Telangiectasia - a Cellular and Molecular Link Between Cancer, Neuropathology and Immune Deficiency. London: Wiley.
31. Lakin, N.D., Weber, P., Stankovic, T., Rottinghaus, S.T., Taylor, A.M.R., and Jackson, S.P. (1996) Analysis of the ATM protein in wild-type and ataxia telangiectasia cells. Oncogene 13:2707-2716.
32. Friedberg, E.C., Walker, G.C., and Siede, W. (1995) DNA Repair and Mutagenesis. Washington: ASM Press.
33. West, S.C. (1992) Enzymes and molecular mechanisms of genetic recombination. Ann Rev Biochem 61:603-640.
34. Rajagopalan, M., Lu, C., Woodgate, R., O'Donnell, M., Goodman, M.F., and Echols, H. (1992) Activity of the purified mutagenesis proteins UmuC, UmuD', and RecA in replicative bypass of an abasic DNA lesion by DNA polymerase III. Proc Natl Acad Sci USA 89:10777-10781.
35. Ogawa, T., Yu, X., Shinohara, A., and Egelman, E.H. (1993) Similarity of the yeast Rad51 filament to the bacterial RecA filament. Science 259:1896-1899.
36. 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 80:859-868.
37. Hubscher, U., and Thommes, P. (1992) DNA polymerase ∈: in search of a function. TIBS 17:55-58.
38. Navas, T.A., Zhou, Z., and Elledge, S.J. (1995) DNA polymerase ∈ links the DNA replication machinery to the S phase checkpoint. Cell 80: 29-39.
39. Navas, T., Sanchez, Y., and Elledge, S.J. (1996) RAD9 and DNA polymerase ∈ form parallel sensory branches for transducing the DNA damage checkpoint signal in S. cerevisiae. Genes Dev 10:2632-2643.
40. Carr, A.M. (1995) DNA structure checkpoints in fission yeast. Semin Cell Biol 6:65-72.
41. Walworth, N., Davey, S., and Beach, D. (1993) Fission yeast chk1 protin kinase links the rad checkpoint pathway to cdc2. Nature 363: 368-371.
42. Al-Khodairy, F., Fotou, E., Sheldrick, K.S., Griffiths, D.J.F., Lehmann, A.R., and Carr, A.M. (1994) Identification and characterisation of new elements involved in checkpoints and feedback controls in fission yeast. Mol Biol Cell 5:147-160.
43. Griffiths, D.J.F., Barbet, N.C., McCready, S., Lehmann, A.R., and Carr, A.M. (1995) Fission yeast rad17: A homologue of budding yeast RAD24 that shares regions of sequence similarity with DNA polymerase accessory proteins. EMBO J 14:5812-5823.
44. +. Mol Biol Cell 6:1793-1805.
45. Demple, B., Herman, T., and Chen, D.S. (1991) Cloning and expression of APE, the cDNA encoding the major human apurinic endonuclease: Definition of a family of DNA repair enzymes. Proc Natl Acad Sci USA 88: 11450-11454.
46. Robson, C.N., and Hickson, I.D. (1991) Isolation of cDNA clones encoding a human apurinic/apyrimidinic endonuclease that corrects DNA repair and mutagenesis defects in E. coli xth (exonuclease III) mutants. Nucl Acids Res 19:5519-5523.
47. Seki, S., Hatsushika, M., Watanabe, S., Akiyama, K., Nagao, K., and Tsutsui, K. (1992) cDNA cloning, sequencing, expression and possible domain structure of human APEX nuclease homologous to Escherichia coli exonuclease III. Biochim Biophys Acta 1131:287-299.
48. Walker, L.J., Robson, C.N., Black, E., Gillespie, D., and Hickson, I.D. (1993) Identification of residues in the human DNA repair enzyme HAP1 (Ref-1) that are essential for redox regulation of Jun DNA binding. Mol Cell Biol 5370-5376.
49. Xanthoudakis, S., Miao, G.G., and Curran, T. (1994) The redox and DNA-repair activities of Ref-1 are encoded by nonoverlapping domains. Proc Natl Acad Sci USA 91:23-27.
50. Jayaraman, L., Murthy, K.G.K., Zhu, C., Curran, T., Xanthoudakis, S., and Prives, C. (1997) Identification of redox/repair protein Ref-1 as a potent activator of p53. Genes Dev 11:558-570.
51. Lehmann, A.R. (1995) Nucleotide excision repair and the link with transcription. Trends Biochem 20:402-405.
52. Wood, R.D. (1996) DNA repair in eukaryotes. Ann Rev Biochem 65: 135-167.
53. Schaeffer, L., Monocollin, 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 is associated with the class II BTF2/TFIIH transcription factor. EMBO J 13:2388-2392.
54. Feaver, W.J., Svejstrup, J.Q., Bardwell, L., Bardwell, A.J., Buratowski, S., Gulyas, K.D., Donahue, T.F., Friedberg, E.C., and Kornberg, R.D. (1993) Dual roles of a multiprotein complex from S. cervisiae in transcription and DNA repair. Cell 75:1379-1387.
55. Sung, P., Guzder, S.N., Prakash, L., and Prakash, S. (1996) Reconstitution of TFIIH and requirement of its DNA helicase subunits, Rad3 and Rad25, in the incision step of nucleotide excision repair. J Biol Chem 271: 10821-10826.
56. Higgins, D.R., Prakash, S., Reynolds, P., Polakowska, P., Weber, S., and Prakash, L. (1983) Isolation and characterization of the RAD3 gene of Saccharomyces cerevisiae and inviability of rad3 deletion mutants. Proc Natl Acad Sci USA 80:5680-5684.
57. Naumovski, L., and Friedberg, E.C. (1983) A DNA repair gene required for the incision of damaged DNA is essential for viability in Saccharomyces cerevisiae. Proc Natl Acad Sci USA 80:4818-4821.
58. Song, J.M., Montelone, B.A., Siede, W., and Friedberg, E.C. (1990) Effects of multiple yeast rad3 mutant alleles on UV sensitivity, mutability, and mitotic recombination. J Bacteriol 172:6620-6630.
59. Sung, P., Higgins, D., Prakash, L., and Prakash, S. (1988) Mutation of lysine-48 to arginine in the yeast RAD3 protein abolishes its ATPase and DNA helicase activities but not the ability to bind ATP. EMBO J 7: 3263-3269.
60. 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 Gen 7:189-194.
61. Broughton, B.C., Thompson, A.F., Harcourt, S.A., Vermeulen, W., Hoeijmakers, J.H.J., Botta, E., Stefanini, M., King, M., Weber, C., Cole, J., Arlett, C.F., and Lehmann, A.R. (1995) Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D with the clinical features of xeroderma pigmentosum and Cockayne Syndrome. Am J Hum Genet 56:167-174.
62. Takayama, K., Salazar, E.P., Lehmann, A.R., Stefanini, M., Thompson, L.H., and Weber, C.A. (1995) Defects in the repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum. Cancer Res 55:5656-5663.
63. 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 EHCC2(XPD) in trichothiodystrophy. Am J Hum Genet 58:263-270.
64. Vermeulen, W., van Vuuren, A.J., Chipoulet, M., Schaeffer, L., Appeldoorn, E., Weeda, G., Jaspers, N.G.J., 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 Harbor Symp Quant Biol 59:317-329.
65. Taylor, E., Broughton, B.C., Botta, E., Stefanini, M., Sarasin, A., Jaspers, N.G.J., 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.
66. Gordienko, I., and Rupp, W.D. (1997) UvrAB activity at a damaged DNA site: Is unpaired DNA present? EMBO J 16:880-888.