Paradoxical decrease in mutant frequencies and chromosomal rearrangements in a transgenic lacZ reporter gene in Ku80 null mice deficient in DNA double strand break repair

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 529, Issue 1-2, 2003, Pages 51-58

  Rockwood, Lynne D ^a   Nussenzweig, André ^b   Janz, Siegfried ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b Experimental Transplantation and Immunology Branch   (United States)

Author keywords

Genomic instability; In vivo mutant frequency; Ku80 deficiency; Transgenic shuttle vector based mutagenesis assay

Indexed keywords

DOUBLE STRANDED DNA;

ANIMAL TISSUE; APOPTOSIS; ARTICLE; BRAIN TISSUE; CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; DNA REPAIR; DNA STRAND BREAKAGE; GENE FREQUENCY; GENETIC STABILITY; LACZ GENE; LIVER; MOUSE; NEWBORN; NONHUMAN; NULL ALLELE; POINT MUTATION; PRIORITY JOURNAL; REPORTER GENE; SHUTTLE VECTOR; SPLEEN; STATISTICAL SIGNIFICANCE; TRANSGENE;

UNIDENTIFIED SHUTTLE VECTOR;

EID: 0041508764     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(03)00108-8     Document Type: Article

References (33)

1. Boerrigter M.E., Dolle M.E., Martus H.J., Gossen J.A., Vijg J. Plasmid-based transgenic mouse model for studying in vivo mutations. Nature. 377:1995;657-659.
2. Gossen J.A., de Leeuw W.J., Tan C.H., Zwarthoff E.C., Berends F., Lohman P.H., Knook D.L., Vijg J. Efficient rescue of integrated shuttle vectors from transgenic mice: a model for studying mutations in vivo. Proc. Natl. Acad. Sci. U.S.A. 86:1989;7971-7975.
3. Kohler S.W., Provost G.S., Kretz P.L., Dycaico M.J., Sorge J.A., Short J.M. Development of a short-term in vivo, mutagenesis assay: the effects of methylation on the recovery of a lambda phage shuttle vector from transgenic mice. Nucleic Acids Res. 18:1990;3007-3013.
4. Martus H.J., Dolle M.E., Gossen J.A., Boerrigter M.E., Vijg J. Use of transgenic mouse models for studying somatic mutations in aging. Mutat. Res. 338:1995;203-213.
5. Dolle M.E., Giese H., Hopkins C.L., Martus H.J., Hausdorff J.M., Vijg J. Rapid accumulation of genome rearrangements in liver but not in brain of old mice. Nat. Genet. 17:1997;431-434.
6. Vijg J., Dolle M.E., Martus H.J., Boerrigter M.E. Transgenic mouse models for studying mutations in vivo: applications in aging research. Mech. Ageing Dev. 99:1997;257-271.
7. Dolle M.E., Snyder W.K., Gossen J.A., Lohman P.H., Vijg J. Distinct spectra of somatic mutations accumulated with age in mouse heart and small intestine. Proc. Natl. Acad. Sci. U.S.A. 97:2000;8403-8408.
8. Vijg J., Dolle M.E. Large genome rearrangements as a primary cause of aging. Mech. Ageing Dev. 123:2002;907-915.
9. Giese H., Snyder W.K., van Oostrom C., van Steeg H., Dolle M.E., Vijg J. Age-related mutation accumulation at a lacZ reporter locus in normal and tumor tissues of Trp53-deficient mice. Mutat. Res. 514:2002;153-163.
10. Felix K., Rockwood L.D., Pretsch W., Nair J., Bartsch H., Bornkamm G.W., Janz S. Moderate G6PD deficiency increases mutation rates in the brain of mice. Free Radic. Biol. Med. 32:2002;663-673.
11. Felix K., Rockwood L.D., Pretsch W., Bornkamm G.W., Janz S. Redox imbalance and mutagenesis in spleens of mice harboring a hypomorphic allele of Gpdx(a) encoding glucose 6-phosphate dehydrogenase. Free Radic. Biol. Med. 34:2003;226-232.
12. Rockwood L.D., Torrey T.A., Kim J.S., Coleman A.E., Kovalchuk A.L., Xiang S., Ried T., Morse H.C. III, Janz S. Genomic instability in mouse Burkitt lymphoma is dominated by illegitimate genetic recombinations, not point mutations. Oncogene. 21:2002;7235-7240.
13. Jackson S.P. Sensing and repairing DNA double-strand breaks. Carcinogenesis. 23:2002;687-696.
14. Nussenzweig A., Sokol K., Burgman P., Li L., Li G.C. Hypersensitivity of Ku80-deficient cell lines and mice to DNA damage: the effects of ionizing radiation on growth, survival, and development. Proc. Natl. Acad. Sci. U.S.A. 94:1997;13588-13593.
15. Nussenzweig A., Chen C., da Costa Soares V., Sanchez M., Sokol K., Nussenzweig M.C., Li G.C. Requirement for Ku80 in growth and immunoglobulin V(D)J recombination. Nature. 382:1996;551-555.
16. Casellas R., Nussenzweig A., Wuerffel R., Pelanda R., Reichlin A., Suh H., Qin X.F., Besmer E., Kenter A., Rajewsky K., Nussenzweig M.C. Ku80 is required for immunoglobulin isotype switching. EMBO J. 17:1998;2404-2411.
17. Difilippantonio M.J., Zhu J., Chen H.T., Meffre E., Nussenzweig M.C., Max E.E., Ried T., Nussenzweig A. DNA repair protein Ku80 suppresses chromosomal aberrations and malignant transformation. Nature. 404:2000;510-514.
18. Vogel H., Lim D.S., Karsenty G., Finegold M., Hasty P. Deletion of Ku86 causes early onset of senescence in mice. Proc. Natl. Acad. Sci. U.S.A. 96:1999;10770-10775.
19. Difilippantonio M.J., Petersen S., Chen H.T., Johnson R., Jasin M., Kanaar R., Ried T., Nussenzweig A. Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplification. J. Exp. Med. 196:2002;469-480.
20. Karanjawala Z.E., Grawunder U., Hsieh C.L., Lieber M.R. The nonhomologous DNA end joining pathway is important for chromosome stability in primary fibroblasts. Curr. Biol. 9:1999;1501-1504.
21. Ferguson D.O., Sekiguchi J.M., Chang S., Frank K.M., Gao Y., DePinho R.A., Alt F.W. The nonhomologous end-joining pathway of DNA repair is required for genomic stability and the suppression of translocations. Proc. Natl. Acad. Sci. U.S.A. 97:2000;6630-6633.
22. Pierce A.J., Hu P., Han M., Ellis N., Jasin Ku M. DNA end-binding protein modulates homologous repair of double-strand breaks in mammalian cells. Genes Dev. 15:2001;3237-3242.
23. Adachi N., Ishino T., Ishii Y., Takeda S., Koyama H. DNA ligase IV-deficient cells are more resistant to ionizing radiation in the absence of Ku70: implications for DNA double-strand break repair. Proc. Natl. Acad. Sci. U.S.A. 98:2001;12109-12113.
24. Zhou X.Y., Wang X., Wang H., Chen D.J., Li G.C., Iliakis G., Wang Y. Ku affects the ATM-dependent S phase checkpoint following ionizing radiation. Oncogene. 21:2002;6377-6381.
25. Wang X., Li G.C., Iliakis G., Wang Y. Ku affects the CHK1-dependent G(2) checkpoint after ionizing radiation. Cancer Res. 62:2002;6031-6034.
26. Liang F., Han M., Romanienko P.J., Jasin M. Homology-directed repair is a major double-strand break repair pathway in mammalian cells. Proc. Natl. Acad. Sci. U.S.A. 95:1998;5172-5177.
27. 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.
28. Boulton S.J., Jackson S.P. Identification of a Saccharomyces cerevisiae Ku80 homologue: roles in DNA double strand break rejoining and in telomeric maintenance. Nucleic Acids Res. 24:1996;4639-4648.
29. Kabotyanski E.B., Gomelsky L., Han J.O., Stamato T.D., Roth D.B. Doublestrand break repair in Ku86- and XRCC4-deficient cells. Nucleic Acids Res. 26:1998;5333-5342.
30. Verkaik N.S., Esveldt-van Lange R.E., van Heemst D., Bruggenwirth H.T., Hoeijmakers J.H., Zdzienicka M.Z., van D.C. Gent Different types of V(D)J recombination and end-joining defects in DNA double-strand break repair mutant mammalian cells. Eur. J. Immunol. 32:2002;701-709.
31. Zhu C., Mills K.D., Ferguson D.O., Lee C., Manis J., Fleming J., Gao Y., Morton C.C., Alt F.W. Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations. Cell. 109:2002;811-821.
32. Bogue M.A., Jhappan C., Roth D.B. Analysis of variable (diversity) joining recombination in DNA dependent protein kinase (DNA-PK)-deficient mice reveals DNA-PK-independent pathways for both signal and coding joint formation. Proc. Natl. Acad. Sci. U.S.A. 95:1998;15559-15564.
33. Karanjawala Z.E., Murphy N., Hinton D.R., Hsieh C.L., Lieber M.R. Oxygen metabolism causes chromosome breaks and is associated with the neuronal apoptosis observed in DNA double-strand break repair mutants. Curr. Biol. 12:2002;397-402.