DNA double-strand breaks: signaling, repair and the cancer connection (original) (raw)

• Lee, S.E. et al. Saccharomyces Ku70, Mre11/Rad50, and RPA proteins regulates adaptation to G2/M arrest after DNA damage. Cell 94, 399–409 (1998).
  Article CAS PubMed Google Scholar
• Rich, T., Allen, R.L & Wyllie, A.H. Defying death after DNA damage. Nature 407, 777–783 (2000).
  Article CAS PubMed Google Scholar
• Nikiforova, M.N. et al. Proximity of chromosomal loci that participate in radiation-induced rearrangements in human cells. Science 290, 138–141 (2000)
  Article CAS PubMed Google Scholar
• Vamvakas, S., Vock, E.H. & Lutz, W.K. On the role of DNA double-strand breaks in toxicity and carcinogenesis. Crit. Rev. Toxicol. 27, 155–174 (1997).
  Article CAS PubMed Google Scholar
• Richardson, C. & Jasin, M. Frequent chromosomal translocations induced by DNA double-strand breaks. Nature 405, 697–700 (2000).
  Article CAS PubMed Google Scholar
• Haber, J.E. Partners and pathways repairing a double-strand break. Trends Genet. 16, 259–264 (2000).
  Article CAS PubMed Google Scholar
• Karran, P. DNA double strand break repair in mammalian cells. Curr. Opin. Genet. Dev. 10, 144–150 (2000).
  Article CAS PubMed Google Scholar
• Johnson, R.D. & Jasin, M. Sister chromatid gene conversion is a prominent double-strand break repair pathway in mammalian cells. EMBO J. 19, 3398–3407 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Tsuzuki, T. et al. Targeted disruption of the Rad51 gene leads to lethality in embryonic mice. Proc. Natl. Acad. Sci. USA 93, 6236–6240 (1996).
  Article CAS PubMed PubMed Central Google Scholar
• Tashiro, S., Walter, J., Shinohara, A., Kamada, N. & Cremer, T. Rad51 accumulation at sites of DNA damage and in post replicative chromatin. J. Cell Biol. 150, 283–291 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Liu, N. et al. XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages. Mol. Cell 1, 783–793 (1998).
  Article CAS PubMed Google Scholar
• Essers, J. et al. Disruption of mouse RAD54 reduces ionizing radiation resistance and homologous recombination. Cell 89, 195–204 (1997).
  Article CAS PubMed Google Scholar
• Hiramoto, T. et al. Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer. Oncogene 18, 3422–3426 (1999).
  Article CAS PubMed Google Scholar
• Matsuda, M. et al. Mutations in the Rad54 recombination gene in primary cancer. Oncogene 18, 3427–3430 (1999).
  Article CAS PubMed Google Scholar
• Rijkers, T. et al. Targeted inactivation of mouse RAD52 reduces homologous recombination but not resistance to ionizing radiation. Mol. Cell. Biol. 18, 6423–6429 (1998).
  Article CAS PubMed PubMed Central Google Scholar
• Haber, J.E. DNA repair. Gatekeepers of recombination. Nature 398, 665–667 (1999).
  Article CAS PubMed Google Scholar
• Welcsh, P.L., Owens, K.N. & King, M.C. Insights into the functions of BRCA1 and BRCA2. Trends Genet. 16, 69–74 (2000).
  Article CAS PubMed Google Scholar
• Hakem, R., de la Pompa, J.L., Elia, A., Potter, J. & Mak, T.W. Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation. Nature Genet. 16, 298–302 (1997).
  Article CAS PubMed Google Scholar
• Sharan, S.K. et al. Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 386, 804–810 (1997).
  Article CAS PubMed Google Scholar
• Bochar, D.A. et al. BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer. Cell 102, 257–265 (2000).
  Article CAS PubMed Google Scholar
• Zhong, Q. et al. Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science 285, 747–750 (1999).
  Article CAS PubMed Google Scholar
• Phillips, K.A. et al. Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations. J. Natl. Cancer Inst. 91, 469–473 (1999).
  Article CAS PubMed Google Scholar
• Xu, X. et al. Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation. Nature Genet. 22, 37–43 (1999).
  Article CAS PubMed Google Scholar
• Xu, X. et al. Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. Mol. Cell 3, 389–395 (1999).
  Article CAS PubMed Google Scholar
• Lee, H. et al. Mitotic checkpoint inactivation fosters transformation in cells lacking the breast cancer susceptibility gene, Brca2. Mol. Cell 4, 1–10 (1999).
  Article CAS PubMed Google Scholar
• Khanna, K.K. ATM gene and cancer risk: a continuing debate. J. Natl. Cancer Inst. 92, 795–802 (2000).
  Article CAS PubMed Google Scholar
• Petiniot, L.K. et al. Recombinase-activating gene (RAG) 2-mediated V(D)J recombination is not essential for tumorigenesis in Atm-deficient mice. Proc. Natl. Acad. Sci. USA 97, 6664–6669 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Bishop, A.J., Barlow, C., Wynshaw-Boris, A.J. & Schiestl, R.H. Atm deficiency causes an increased frequency of intrachromosomal homologous recombination in mice. Cancer Res. 60, 395–399 (2000).
  CAS PubMed Google Scholar
• Morrison, C. et al. The controlling role of ATM in homologous recombinational repair of DNA damage. EMBO J. 19, 463–471 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Barlow, C. et al. Atm deficiency results in severe meiotic disruption as early as leptonema of prophase I. Development 125, 4007–4017 (1998).
  CAS PubMed Google Scholar
• Rotman, G. & Shiloh, Y. ATM: a mediator of multiple responses to genotoxic stress. Oncogene 18, 6135–6144 (1999).
  Article CAS PubMed Google Scholar
• Saintigny, Y., Rouillard, D., Chaput, B., Soussi, T. & Lopez, B.S. Mutant p53 proteins stimulate spontaneous and radiation-induced intrachromosomal homologous recombination independently of the alteration of the transactivation activity and of the G1 checkpoint. Oncogene 18, 3553–3563 (1999).
  Article CAS PubMed Google Scholar
• Smilenov, L.B., Dhar, S. & Pandita, T.K. Altered telomere nuclear matrix interactions and nucleosomal periodicity in ataxia telangiectasia cells before and after ionizing radiation treatment. Mol. Cell. Biol. 19, 6963–6971 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Ikura, T. et al. Involvement of the TIP60 histone acetylase complex in DNA repair and apoptosis. Cell 102, 463–473 (2000).
  Article CAS PubMed Google Scholar
• Karow, J.K., Wu, L. & Hickson, I.D. RecQ family helicases: roles in cancer and aging. Curr. Opin. Genet. Dev. 10, 32–38 (2000).
  Article CAS PubMed Google Scholar
• Smith, G.C. & Jackson, S.P. The DNA-dependent protein kinase. Genes Dev. 13, 916–934 (1999).
  Article CAS PubMed Google Scholar
• Petrini, J.H. The Mre11 complex and ATM: collaborating to navigate S phase. Curr. Opin. Cell. Biol. 12, 293–296 (2000).
  Article CAS PubMed Google Scholar
• Carney, J.P. et al. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93, 477–486 (1998).
  Article CAS PubMed Google Scholar
• Varon, R. et al. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93, 467–476 (1998).
  Article CAS PubMed Google Scholar
• Stewart, G.S. et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99, 577–587 1999).
• Lim, D.S. et al. ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 404, 613–617 (2000).
  Article CAS PubMed Google Scholar
• Gatei, M. et al. ATM-dependent phosphorylation of nibrin in response to radiation exposure. Nature Genet. 25, 115–119 (2000).
  Article CAS PubMed Google Scholar
• Zhao, S. et al. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Nature 405, 473–477 (2000).
  Article CAS PubMed Google Scholar
• Wu, X. et al. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response. Nature 405, 477–482 (2000).
  Article CAS PubMed Google Scholar
• Riballo, E. Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr. Biol. 9, 699–702 (1999).
  Article CAS PubMed Google Scholar
• Gao, Y. et al. Interplay of p53 and DNA-repair protein XRCC4 in tumorigenesis, genomic stability and development. Nature 404, 897–900 (2000).
  Article CAS PubMed Google Scholar
• Frank, K.M. et al. DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway. Mol. Cell 5, 993–1002 (2000).
  Article CAS PubMed Google Scholar
• Gu, Y. et al. Defective embryonic neurogenesis in Ku-deficient but not DNA-dependent protein kinase catalytic subunit-deficient mice. Proc. Natl. Acad. Sci. USA 97, 2668–2673 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Lee, Y., Barnes, D.E., Lindahl, T. & McKinnon, P.J. Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm. Genes Dev. 14, 2576–2580 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Oka, A. & Takashima, S. Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development. Neurosci. Lett. 252, 195–198 (1998).
  Article CAS PubMed Google Scholar
• Difilippantonio, M.J. et al. DNA repair protein Ku80 suppresses chromosomal aberrations and malignant transformation. Nature 404, 510–514 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Vanasse, G.J. et al. Genetic pathway to recurrent chromosome translocations in murine lymphoma involves V(D)J recombinase. J. Clin. Invest. 103, 1669–1675 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Nacht, M. et al. Mutations in the p53 and SCID genes cooperate in tumorigenesis. Genes Dev. 10, 2055–2066 (1996).
  Article CAS PubMed Google Scholar
• Jeggo, P.A., Carr, A.M. & Lehmann, A.R. Splitting the ATM: distinct repair and checkpoint defects in ataxia-telangiectasia. Trends Genet. 14, 312–316 (1998).
  Article CAS PubMed Google Scholar
• Tanaka, H. et al. A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage. Nature 404, 42–49 (2000).
  Article CAS PubMed Google Scholar
• Bashkirov, V.I., King, J.S., Bashkirova, E.V., Schmuckli-Maurer, J. & Heyer, W.D. DNA repair protein Rad55 is a terminal substrate of the DNA damage checkpoints. Mol. Cell. Biol. 20, 4393–4404 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Kim, S.T., Lim, D.S., Canman, C.E. & Kastan, M.B. Substrate specificities and identification of putative substrates of ATM kinase family members. J. Biol. Chem. 274, 37538–37543 (1999).
  Article CAS PubMed Google Scholar
• Cliby, W.A. et al. Overexpression of a kinase-inactive ATR protein causes sensitivity to DNA-damaging agents and defects in cell cycle checkpoints. EMBO J. 2, 159–169 (1998).
  Article Google Scholar
• Tibbetts, R.S. et al. A role for ATR in the DNA damage-induced phosphorylation of p53. Genes Dev. 13, 152–157 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Brown, E.J. & Baltimore, D. ATR disruption leads to chromosomal fragmentation and early embryonic lethality. Genes Dev. 14, 397–402 (2000).
  CAS PubMed PubMed Central Google Scholar
• de Klein, A. et al. Targeted disruption of the cell-cycle checkpoint gene ATR leads to early embryonic lethality in mice. Curr. Biol. 10, 479–482 (2000).
  Article CAS PubMed Google Scholar
• Bork, P. et al. A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins. FASEB J. 11, 68–76 (1997).
  Article CAS PubMed Google Scholar
• Wang, Y. et al. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev. 14, 927–939 (2000).
  CAS PubMed PubMed Central Google Scholar
• Harkin, D.P. et al. Induction of GADD45 and JNK/SAPK-dependent apoptosis following inducible expression of BRCA1. Cell 97, 575–586 (1999).
  Article CAS PubMed Google Scholar
• MacLachlan, T.K. et al. BRCA1 effects on the cell cycle and the DNA damage response are linked to altered gene expression. J. Biol. Chem. 275, 2777–2785 (2000).
  Article CAS PubMed Google Scholar
• Zhou, B.-B. et al. Caffeine abolishes the mammalian G2/M DNA damage checkpoint by inhibiting ataxia-telangiectasia-mutated kinase activity. J. Biol. Chem. 275, 10342–10348 (2000).
  Article CAS PubMed Google Scholar
• Matsuoka, S. et al. Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro. Proc. Natl. Acad. Sci. USA 97, 10389–10394 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Sanchez, Y. et al. Conservation of the Chk1 checkpoint pathway in mammals: linkage of DNA damage to Cdk regulation through Cdc25. Science 277, 1497–501 (1997).
  Article CAS PubMed Google Scholar
• Takai, H. et al. Aberrant cell cycle checkpoint function and early embryonic death in Chk1−/− mice. Genes Dev. 12, 1439–1447 (2000).
  Google Scholar
• Liu, Q. et al. Chk1 is an essential kinase that is regulated by ATR and required for the G2/M DNA damage checkpoint. Genes Dev. 14, 1448–1459 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• O'Connell, M.J., Walworth, N.C. & Carr, A.M. The G2-phase DNA-damage checkpoint. Trends Cell Biol. 10, 296–303 (2000).
  Article CAS PubMed Google Scholar
• Passalaris, T.M., Benanti, J.A., Gewin, L., Kiyono, T. & Galloway, D.A. The G(2) checkpoint is maintained by redundant pathways. Mol. Cell. Biol. 19, 5872–5881 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Caspari, T. How to activate p53. Curr. Biol. 10, R315–317 (2000).
  Article CAS PubMed Google Scholar
• Hirao, A. et al. DNA damage-induced activation of p53 by the checkpoint kinase Chk2. Science 287, 1824–1827 (2000).
  Article CAS PubMed Google Scholar
• Bell, D. et al. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286, 2528–2531 (1999).
  Article CAS PubMed Google Scholar
• Lee, J.S., Collins, K.M., Brown, A.L., Lee, C.H. & Chung, J.H. hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. Nature 404, 201–204 (2000).
  Article CAS PubMed Google Scholar