The mutagenic potential of DNA double-strand break repair

Toxicology Letters

Volumn 96-97, Issue , 1998, Pages 119-129

  Pfeiffer, Petra ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Double strand break repair; Double strand breaks; Illegitimate recombination; Mutagenesis; Nonhomologous DNA end joining

Indexed keywords

DOUBLE STRANDED DNA;

ARTICLE; DNA REPAIR; DNA STRAND BREAKAGE; DNA SYNTHESIS; GENE DELETION; MUTAGENICITY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

ANIMALS; BASE SEQUENCE; DNA; DNA DAMAGE; DNA REPAIR; HUMANS; MUTAGENICITY TESTS; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 0031716053     PISSN: 03784274     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-4274(98)00058-7     Document Type: Article

References (85)

1. Albertini R.J., Nicklas J.A., Fuscoe J.C., Skopek T.R., Branda R.F., O'Neil J.P. In vivo mutations in human blood cells: biomarkers for molecular epidemiology. Environ. Health Perspect. 99:1993;135-141.
2. Andersson H.C. The spontaneous frequency of chromosomal aberrations and sister-chromatid exchanges in cultured peripheral lymphocytes of a single blood donor sampled more than 200 times. Mutat. Res. 286:1993;281-292.
3. Au K.G., Welsh K., Modrich P. Initiation of methyl-directed mismatch repair. J. Biol. Chem. 267:1992;12142-12148.
4. Bauchinger M., Schmidt E., Zitzelsberger H., Braselmann H., Nahrstedt U. Radiation-induced chromosome aberrations analysed by two-colour fluorescence in situ hybridization with composite whole chromosome-specific DNA probes and a pancentromeric DNA probe. Int. J. Rad. Res. 64:1993;179-184.
5. Bennett R.A.O., Gu X.-Y., Povirk L.F. Construction of a vector containing a site-specific DNA double-strand break with 3′-phosphoglycolate termini and analysis of the products of end-joining in CV-1 cells. Int. J. Radiat. Biol. 70:1996;623-636.
6. Bøe S.-O., Sodroski J., Helland D.E., Farnet C.M. DNA end-joining in extracts from human cells. Biochem. Biophys. Res. Commun. 215:1995;987-993.
7. Boulton S.J., Jackson S.P. Saccharomyces cerevisiae Ku70 potentiates illegitimate DNA double-strand break repair and serves as a barrier to error-prone DNA repair pathways. EMBO J. 15:1996;5093-5103.
8. Boulton S.J., Jackson S.P. Identification of Saccharomyces Ku80 homologue: roles in DNA double-strand break rejoining and telomeric maintenance. Nucleic. Acids Res. 24:1996;4639-4648.
9. Bryant P.E., Liu N. Responses of radiosensitive repair-proficient cell lines to restriction endonucleases. Int. J. Radiat. Res. 66:1994;597-601.
10. Bryant P.E., Ritches A.C. Oncogenic transformation of murine C3H10T1/2 cells resulting from DNA double-strand breaks induced by a restriction endonuclease. Br. J. Cancer. 60:1989;852-854.
11. Bryant P.E. Enzymatic restriction of mammalian cell DNA: evidence for the double-strand breaks as potentially lethal lesions. Int. J. Radiat. Res. 48:1985;55-60.
12. Costa N.D., Thacker J. Mutations induced by DNA double-strand breaks: the influence of genomic site. Somatic Cell Mol. Genet. 22:1996;249-259.
13. Costa N.D., Masson W.K., Thacker J. The effectiveness of restriciton endonucleases in cell killing and mutation. Somatic Cell Mol. Genet. 19:1993;479-490.
14. Critchlow S.E., Bowater R., Jackson S.P. Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. Curr. Biol. 7:1997;588-598.
15. Daza P., Reichenberger S., Göttlich B., Hagmann M., Feldmann E., Pfeiffer P. Mechanisms of nonhomologous DNA end joining in frogs, mice and men. Biol. Chem. 377:1996;775-786.
16. Doutriaux M.P., Wagner R., Radman M. Mismatch-stimulated killing. Proc. Natl. Acad. Sci. USA. 83:1986;2576-2578.
17. Fuscoe J.C., Zimmerman L.J., Lippert M.J., Nicklas J.A., O'Neill J.P., Albertini R.J. V(D)J recombinase-like activity mediates hprt gene deletion in human fetal T-lymphocytes. Cancer Res. 51:1991;6001-6005.
18. Fuscoe J.C., Zimmerman L.J., Harrington-Brock K., Burnette L., Moore M.M., Nicklas J.A., O'Neill J.P., Albertini R.J. V(D)J recombinase-mediated deletion of the hprt gene in T-lymphocytes from adult humans. Mutat. Res. 283:1992;13-20.
19. Fuscoe J.C., Zimmerman L.J., Harrington-Brock K., Moore M.M. Deletion mutations in the hprt gene of T-lymphocytes as a biomarker for genomic rearrangements important in human cancers. Carcinogenesis. 15:1994;1463-1466.
20. Fuscoe J.C., Setzer R.W., Collard D.D., Moore M.M. Quantification of t(14;18) in the lymphocytes of healthy adult humans as a possible biomarker for environmental exposures to carcinogens. Carcinogenesis. 17:1996;1013-1020.
21. Fuscoe J.C., Vira L.K., Collard D.D., Moore M.M. Quantification of hprt gene deletions mediated by illegitimate V(D)J recombination in peripheral blood cells of humans. Environ. Mol. Mutagen. 29:1997;28-35.
22. Ganesh A., North P., Thacker J. Repair and misrepair of site-specific DNA double-strand breaks by human cell extracts. Mutat. Res. 299:1993;251-259.
23. Gellert M. V(D)J recombination gets a break. Trends Genet. 8:1992;408-412.
24. Giver C.R., Nelson S.L., Grosovsky A.J. Spectrum of spontaneous HPRT-mutations in TK6 human lymphoblasts. Environ. Mol. Mutagen. 22:1993;138-146.
25. Goedecke W., Pfeiffer P., Vielmetter W. Nonhomologous DNA end joining in Schizosaccharomyces pombe efficiently eliminates DNA double-strand-breaks from haploid sequences. Nucleic Acids Res. 22:1994;2094-2101.
26. Göttlich, B., Daza, P., Reichenberger, S., Feldmann, E., Pfeiffer, P., 1995a. Double-strand break rejoining in extracts from eukaryotic cells. In: Hagen, U., Jung, H., Streffer, C. (Eds.), Radiation research 1895-1995. Proc. of the Xth Int. Congr. Rad. Res. vol. 2, 10th ICRR Soc. Würzburg, pp. 372-375.
27. Göttlich B., Feldmann E., Pfeiffer P. Enrichment of a DNA end-joining activity from Xenopus laevis egg extracts. J. Cell. Biochem. Suppl. 21A:1995;328.
28. Göttlich, B., Reichenberger, S., Feldmann, E., Pfeiffer, P., 1998. Partial purification and biochemical characterization of an error-prone double-strand repair activity from Xenopus laevis eggs, (submitted).
29. Grawunder U., Wilm M, Wu X., Kulesza P., Wilson T.E., Mann M., Lieber M.R. Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature. 388:1997;492-495.
30. Gu X.-Y., Bennett R.A.O., Povirk L.F. End-joining of free radical-mediated DNA double-strand breaks in vitro is blocked by the kinase inhibitor Wortmannin at a step preceding removal of damaged 3′ termini. J. Biol. Chem. 271:1996;19660-19663.
31. Gupta R.C., Bazemoure L.R., Golub E.I., Radding C.M. Activities of human recombination protein Rad51. Proc. Natl. Acad. Sci. USA. 94:1997;463-468.
32. Harrington J.J., Lieber M.R. The characterization of a mammalian DNA structure-specific endonuclease. EMBO J. 13:1994;1235-1246.
33. Iliakis G. The role of DNA double strand breaks in ionizing radiation-induced killing of eukaryotic cells. Bioessays. 13:1991;641-648.
34. Jackson S.P., Jeggo P.A. DNA double-strand break repair and V(D)J recombination: involvement of DNA-PK. Trends Biol. Sci. 20:1995;412-415.
35. Jeggo P.A. Studies on mammalian mutants defective in rejoining double-strand breaks in DNA. Mutat. Res. 239:1990;1-16.
36. Johnson A.P., Fairman M.P. The identification and characterization of mammalian proteins involved in the rejoining of DNA double-strand breaks in vitro. Mutat. Res. 364:1996;103-116.
37. King J.S., Valcarel E.R., Rufer J.T., Phillips J.W., Morgan W.F. Noncomplementary DNA double-strand-break rejoining in bacterial and human cells. Nucleic Acids Res. 21:1993;1055-1059.
38. Lehman C.W., Trautman J.K., Carroll D. Illegitimate recombination in Xenopus: characterization of end-joined junctions. Nucleic Acids Res. 22:1994;434-442.
39. Lehrman M.A., Schneider W.J., Sudhof T.C., Brown M.S., Goldstein J.L., Russell D.W. Mutation in the LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science. 227:1985;140-146.
40. Lehrman M.A., Russell D.W., Goldstein J.L., Brown M.S. Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc. Natl. Acad. Sci. USA. 83:1986;3679-3683.
41. Levine A.J. p53, the cellular gatekeeper for growth and division. Cell. 88:1997;323-331.
42. Lieber M.R., Grawunder U., Wu X., Yaneva M. Tying loose ends: roles of Ku and DNA-dependent protein kinase in the repair of double-strand breaks. Curr. Opin. Genet. Dev. 7:1997;99-104.
43. Lindahl T., Barnes D.E. Mammalian DNA ligases. Ann. Rev. Biochem. 61:1992;251-281.
44. Lutze L.H., Winegar R.A. pHAZE: a shuttle vector system for the detection and analysis of ionizing radiation-induced mutations. Mutat. Res. 245:1990;305-310.
45. Mason R.M., Thacker J., Fairman M.P. The joining of non-complementary DNA double-strand breaks by mammalian cell extracts. Nucleic Acids Res. 24:1996;4946-4953.
46. Meuth, M., 1989. Illegitimate recombination in mammalian cells. In: Berg, D.E., Howe, M.M. (Eds.), Mobile DNA, Am. Soc. Microbiol., Washington D.C., pp. 833-860.
47. Meuth M. The structure of mutation in mammalian cells. Biochim. Biophys. Acta. 1032:1990;1-17.
48. Miles C., Meuth M. DNA sequence determination of γ-radiation-induced mutations of the hamster aprt locus. Mutat. Res. 227:1989;97-102.
49. Mimori T., Hardin J.A. Mechanisms of interaction between Ku protein and DNA. J. Biol. Chem. 261:1986;10375-10379.
50. Moore M.M., Harrington-Brock K., Zimmerman L.J., Burnette L.P., Smith T.W., Everson R.B., O'Neill J.P., Fuscoe J.C. Quantification and molecular characterization of hprt mutants of human T-lymphocytes. Environ. Health Perspect. 101(Suppl. 3):1993;219-224.
51. Morris T., Thacker J. Formation of large deletions by illegitimate recombination in the HPRT gene of primary fibroblasts. Proc. Natl. Acad. Sci. USA. 90:1993;1392-1396.
52. Natarajan A.T., Obe G. Molecular mechanisms involved in the production of chromosomal aberrations: III. Restriction endonucleases. Chromosoma (Berlin). 90:1984;120-127.
53. Nicolás A.L., Munz P.L., Young C.S.H. A modified single-strand annealing model best explains the joining of DNA double-strand breaks in mammalian cells and cell extracts. Nucleic. Acids Res. 23:1995;1036-1043.
54. Österholm A.-M., Bastlov T., Meijer A., Podlutsky A., Zanesi N., Hou S.-M. Sequence analysis of deletion mutations at the HPRT locus of human T-lymphocytes-association of a palindromic structure with a breakpoint cluster in exon 2. Mutagenesis. 11:1996;511-517.
55. Paulovich A.G., Toczyski D.P., Hartwell L.H. When checkpoints fail. Cell. 88:1997;315-321.
56. Pfeiffer P., Vielmetter W. Joining of nonhomologous DNA double-strand breaks in vitro. Nucleic Acids Res. 16:1988;907-924.
57. Pfeiffer P., Thode S., Hancke J., Keohavong P., Thilly W.G. Resolution and conservation of mismatches in DNA end joining. Mutagenesis. 9:1994;527-535.
58. Pfeiffer P., Thode S., Hancke J., Vielmetter W. Mechanisms of overlap formation in nonhomologous DNA end joining. Mol. Cell. Biol. 14:1994;888-895.
59. Phillips J.W., Morgan W.F. Illegitimate recombination induced by DNA double-strand breaks in a mammalian chromosome. Mol. Cell. Biol. 14:1994;5794-5803.
60. Ramsden D.A., Paull T.T., Gellert M. Cell-free V(D)J recombination. Nature. 388:1997;488-491.
61. Rippley L.S. Model for the participation of quasi-palindromic DNA sequences in frameshift mutation. Proc. Natl. Acad. Sci. USA. 79:1982;4128-4132.
62. Roth D.B., Wilson J.H. Nonhomologous recombination in mammalian cells: role for short sequence homologies in the joining reaction. Mol. Cell. Biol. 6:1986;4295-4304.
63. Roth, D.B., Wilson, J.H., 1988. Illegitimate recombination in mammalian cells. In: Kucherlapati, R., Smith, G. (Eds.), Genetic Recombination, Am. Soc. Microbiol., Washington, D.C., pp. 621-653.
64. Roth D.B., Porter T.N., Wilson J.H. Mechanisms of nonhomologous recombination of mammalian cells. Mol. Cell. Biol. 5:1985;2599-2607.
65. Roth D.B., Chang X.-B., Wilson J.H. Comparison of filler DNA at immune, nonimmune, and oncogenic rearrangements suggests multiple mechanisms of formation. Mol. Cell. Biol. 9:1989;3049-3057.
66. Roth D.B., Proctor G.N., Stewart L.K., Wilson J.H. Oligonucleotide capture during end joining in mammalian cells. Nucleic Acids Res. 19:1991;7201-7205.
67. Roth D.B., Lindahl T., Gellert M. How to make ends meet. Curr. Biol. 5:1995;496-499.
68. Shinohara A., Ogawa T. Homologous recombination and the roles of double-strand breaks. Trends Biochem. Sci. 20:1995;387-391.
69. Shinohara A., Ogawa H., Matsuda Y., Ushio N., Ikeo K., Ogawa T. Cloning of the human, mouse and fission yeast recombination genes homologous to RAD51 and recA. Nat. Genet. 4:1993;239-243.
70. Steighner R.J., Povirk L.F. Bleomycin-induced DNA lesions at mutational hot spots: implications for the mechanism of double-strand cleavage. Proc. Natl. Acad. Sci. USA. 87:1990;8350-8354.
71. Streisinger G., Owen J. Mechanisms of spontaneous and induced frameshift mutation in bacteriophage T4. Genetics. 109:1985;633-659.
72. Szostak J.W., Orr-Weaver T.-L., Rothstein R., Stahl F.W. The double-strand-break repair model for recombination. Cell. 33:1983;25-35.
73. Teo S.-H., Jackson S.P. Identification of Saccharomyces cerevisiae DNA ligase IV: involvement in DNA double-strand break repair. EMBO J. 16:1997;4788-4795.
74. Thacker J., Chalk J., Ganesh A., North P. A mechanism for deletion formation in DNA by human cell extracts: the involvement of short sequence repeats. Nucleic Acids Res. 20:1992;6183-6188.
75. Thacker J. The study of responses to model DNA breaks induced by restriction endonucleases in cells and cell-free systems: achievements and difficulties. Int. J. Radiat. Biol. 66:1994;591-596.
76. Thode S., Schäfer A., Pfeiffer P., Vielmetter W. A novel pathway of DNA end-to-end joining. Cell. 60:1990;921-928.
77. Tonomura A., Kishi K., Saito F. Types and frequencies of chromosome aberrations in peripheral bood lymphocytes of general populations. Ishihara T., Sasaki M.S. Radiation-Induced Chromosome Damage in Man. 1983;605-616 Alan R. Liss, New York.
78. Vnencak-Jones C.L., Phillips J. III, Chen E.Y., Seeburg P.H. Molecular basis of human growth hormone gene deletions. Proc. Natl. Acad. Sci. USA. 85:1988;5615-5619.
79. Ward J.F. DNA damage produced by ionizing radiation in mammalian cells: identities, mechanisms of formation, and repairability. Prog. Nucleic Acids Res. Mol. Biol. 35:1988;95-125.
80. Weaver D.T., Alt F.W. From RAGs to stitches. Nature. 388:1997;428-429.
81. Weaver D.T. What to do at an end: DNA double-strand break repair. Trends Genet. 11:1995;388-392.
82. Wilson T.E., Grawunder U., Lieber M.R. Yeast DNA ligase IV mediates non-homologous DNA end joining. Nature. 388:1997;495-498.
83. Winegar R.A., Lutze L.H., Rufer J.T., Morgan W.F. Spectrum of mutations introduced by specific types of restriction enzyme-induced double-strand breaks. Mutagenesis. 7:1992;439-445.
84. Yang T.C., Craise L.M., Tobias C.A. Molecular lesions important for neoplastic cell transformation of mouse (C3H10T1/2) and human epithelial cells by ionizing radiation. Chadwick K.H., Seymour C., Barnhart B. Cell Transformation and Radiation-induced Cancer. 1989;301-308 Adam Hilger, Bristol.
85. Yates B.L., Morgan W.F. Nonhomologous DNA end joining in chromosomal aberration formation. Mutat. Res. 285:1993;53-60.