1. ThompsonLH (2012) Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: The molecular choreography. Mutat Res 751: 158–246.
2. MoynahanME, JasinM (2010) Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis. Nat Rev Mol Cell Biol 11: 196–207.
3. ZhaS, BoboilaC, AltFW (2009) Mre11: roles in DNA repair beyond homologous recombination. Nat Struct Mol Biol 16: 798–800.
4. McVeyM, LeeSE (2008) MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. Trends Genet 24: 529–538.
5. MladenovE, IliakisG (2011) Induction and repair of DNA double strand breaks: the increasing spectrum of non-homologous end joining pathways. Mutat Res 711: 61–72.
6. LavinMF (2007) ATM and the Mre11 complex combine to recognize and signal DNA double-strand breaks. Oncogene 26: 7749–7758.
7. BothmerA, RobbianiDF, FeldhahnN, GazumyanA, NussenzweigA, et al. (2010) 53BP1 regulates DNA resection and the choice between classical and alternative end joining during class switch recombination. J Exp Med 207: 855–865.
8. BouwmanP, AlyA, EscandellJM, PieterseM, BartkovaJ, et al. (2010) 53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers. Nat Struct Mol Biol 17: 688–695.
9. BuntingSF, CallenE, WongN, ChenHT, PolatoF, et al. (2010) 53BP1 inhibits homologous recombination in Brca1-deficient cells by blocking resection of DNA breaks. Cell 141: 243–254.
10. CaoL, XuX, BuntingSF, LiuJ, WangRH, et al. (2009) A selective requirement for 53BP1 in the biological response to genomic instability induced by Brca1 deficiency. Mol Cell 35: 534–541.
11. HelminkBA, TubbsAT, DorsettY, BednarskiJJ, WalkerLM, et al. (2011) H2AX prevents CtIP-mediated DNA end resection and aberrant repair in G1-phase lymphocytes. Nature 469: 245–249.
12. LangerakP, Mejia-RamirezE, LimboO, RussellP (2011) Release of Ku and MRN from DNA ends by Mre11 nuclease activity and Ctp1 Is required for homologous recombination repair of double-strand breaks. PLoS Genet 7: e1002271 doi:10.1371/journal.pgen.1002271
13. SunJ, LeeKJ, DavisAJ, ChenDJ (2012) Human Ku70/80 protein blocks exonuclease 1-mediated DNA resection in the presence of human Mre11 or Mre11/Rad50 protein complex. J Biol Chem 287: 4936–4945.
14. ShibataA, ConradS, BirrauxJ, GeutingV, BartonO, et al. (2011) Factors determining DNA double-strand break repair pathway choice in G2 phase. EMBO J 30: 1079–1092.
15. WilliamsRS, MoncalianG, WilliamsJS, YamadaY, LimboO, et al. (2008) Mre11 dimers coordinate DNA end bridging and nuclease processing in double-strand-break repair. Cell 135: 97–109.
16. SartoriAA, LukasC, CoatesJ, MistrikM, FuS, et al. (2007) Human CtIP promotes DNA end resection. Nature 450: 509–514.
17. YouZ, ShiLZ, ZhuQ, WuP, ZhangYW, et al. (2009) CtIP links DNA double-strand break sensing to resection. Mol Cell 36: 954–969.
18. YunMH, HiomK (2009) CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle. Nature 459: 460–463.
19. MimitouEP, SymingtonLS (2008) Sae2, Exo1 and Sgs1 collaborate in DNA double-strand break processing. Nature 455: 770–774.
20. ZhuZ, ChungWH, ShimEY, LeeSE, IraG (2008) Sgs1 helicase and two nucleases Dna2 and Exo1 resect DNA double-strand break ends. Cell 134: 981–994.
21. TomimatsuN, MukherjeeB, DelandK, KurimasaA, BoldersonE, et al. (2012) Exo1 plays a major role in DNA end resection in humans and influences double-strand break repair and damage signaling decisions. DNA Repair (Amst) 11: 441–448.
22. RassE, GrabarzA, PloI, GautierJ, BertrandP, et al. (2009) Role of Mre11 in chromosomal nonhomologous end joining in mammalian cells. Nat Struct Mol Biol 16: 819–824.
23. XieA, KwokA, ScullyR (2009) Role of mammalian Mre11 in classical and alternative nonhomologous end joining. Nat Struct Mol Biol 16: 814–818.
24. ZhuangJ, JiangG, WillersH, XiaF (2009) Exonuclease function of human Mre11 promotes deletional nonhomologous end joining. J Biol Chem 284: 30565–30573.
25. Della-MariaJ, ZhouY, TsaiMS, KuhnleinJ, CarneyJP, et al. (2011) Human Mre11/human Rad50/Nbs1 and DNA Ligase IIIα/XRCC1 protein complexes act together in an alternative nonhomologous end joining pathway. J Biol Chem 286: 33845–33853.
26. ZhangY, JasinM (2011) An essential role for CtIP in chromosomal translocation formation through an alternative end-joining pathway. Nat Struct Mol Biol 18: 80–84.
27. BennardoN, ChengA, HuangN, StarkJM (2008) Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair. PLoS Genet 4: e1000110 doi:10.1371/journal.pgen.1000110
28. TaylorEM, CecillonSM, BonisA, ChapmanJR, PovirkLF, et al. (2010) The Mre11/Rad50/Nbs1 complex functions in resection-based DNA end joining in Xenopus laevis. Nucleic Acids Res 38: 441–454.
29. YanCT, BoboilaC, SouzaEK, FrancoS, HickernellTR, et al. (2007) IgH class switching and translocations use a robust non-classical end-joining pathway. Nature 449: 478–482.
30. Guirouilh-BarbatJ, RassE, PloI, BertrandP, LopezBS (2007) Defects in XRCC4 and KU80 differentially affect the joining of distal nonhomologous ends. Proc Natl Acad Sci U S A 104: 20902–20907.
31. Guirouilh-BarbatJ, HuckS, BertrandP, PirzioL, DesmazeC, et al. (2004) Impact of the KU80 pathway on NHEJ-induced genome rearrangements in mammalian cells. Mol Cell 14: 611–623.
32. ZhuC, MillsKD, FergusionDO, LeeC, ManisJ, et al. (2002) Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations. Cell 109: 811–821.
33. WeinstockDM, BrunetE, JasinM (2007) Formation of NHEJ-derived reciprocal chromosomal translocations does not require Ku70. Nat Cell Biol 9: 978–981.
34. SymingtonLS, GautierJ (2011) Double-strand break end resection and repair pathway choice. Annu Rev Genet 45: 247–271.
35. LobrichM, ShibataA, BeucherA, FisherA, EnsmingerM, et al. (2010) γH2AX foci analysis for monitoring DNA double-strand break repair: strengths, limitations and optimization. Cell Cycle 9: 662–669.
36. AsaithambyA, HuB, ChenDJ (2011) Unrepaired clustered DNA lesions induce chromosome breakage in human cells. Proc Natl Acad Sci U S A 108: 8293–8298.
37. SchwartzJL, VaughanAT (1989) Association among DNA/chromosome break rejoining rates, chromatin structure alterations, and radiation sensitivity in human tumor cell lines. Cancer Res 49: 5054–5057.
38. WardJF (2000) Complexity of damage produced by ionizing radiation. Cold Spring Harb Symp Quant Biol 65: 377–382.
39. GoodarziAA, NoonAT, JeggoPA (2009) The impact of heterochromatin on DSB repair. Biochem Soc Trans 37: 569–576.
40. ChioloI, MinodaA, ColmenaresSU, PolyzosA, CostesSV, et al. (2011) Double-strand breaks in heterochromatin move outside of a dynamic HP1a domain to complete recombinational repair. Cell 144: 732–744.
41. BeucherA, BirrauxJ, TchouandongL, BartonO, ShibataA, et al. (2009) ATM and Artemis promote homologous recombination of radiation-induced DNA double-strand breaks in G2. EMBO J 28: 3413–3427.
42. BlackburnEH, GreiderCW, SzostakJW (2006) Telomeres and telomerase: the path from maize, Tetrahymena and yeast to human cancer and aging. Nat Med 12: 1133–1138.
43. PalmW, de LangeT (2008) How shelterin protects mammalian telomeres. Annu Rev Genet 42: 301–334.
44. MurakiK, NyhanK, HanL, MurnaneJP (2012) Mechanisms of telomere loss and their consequences for chromosome instability. Front Oncol 2: 135.
45. MurnaneJP (2006) Telomeres and chromosome instability. DNA Repair (Amst) 5: 1082–1092.
46. MurnaneJP (2010) Telomere loss as a mechanism for chromosomal instability in human cancer. Cancer Res 70: 4255–4259.
47. WuP, van OverbeekM, RooneyS, de LangeT (2010) Apollo contributes to G overhang maintenance and protects leading-end telomeres. Mol Cell 39: 606–617.
48. LamYC, AkhterS, GuP, YeJ, PouletA, et al. (2010) SNMIB/Apollo protects leading-strand telomeres against NHEJ-mediated repair. EMBO J 29: 2230–2241.
49. LarriveeM, LeBelC, WellingerRJ (2004) The generation of proper constitutive G-tails on yeast telomeres is dependent on the MRX complex. Genes Dev 18: 1391–1396.
50. ChaiW, SfeirAJ, HoshiyamaH, ShayJW, WrightWE (2006) The involvement of the Mre11/Rad50/Nbs1 complex in the generation of G-overhangs at human telomeres. EMBO Rep 7: 225–230.
51. DengY, GuoX, FergusonDO, ChangS (2009) Multiple roles for MRE11 at uncapped telomeres. Nature 460: 914–918.
52. WuP, TakaiH, de LangeT (2012) Telomeric 3′ overhangs derive from resection by Exo1 and Apollo and fill-in by POT1b-associated CST. Cell 150: 39–52.
53. HockemeyerD, DanielsJP, TakaiH, de LangeT (2006) Recent expansion of the telomeric complex in rodents: Two distinct POT1 proteins protect mouse telomeres. Cell 126: 63–77.
54. WuL, MultaniAS, HeH, Cosme-BlancoW, DengY, et al. (2006) Pot1 deficiency initiates DNA damage checkpoint activation and aberrant homologous recombination at telomeres. Cell 126: 49–62.
55. HockemeyerD, PalmW, ElseT, DanielsJP, TakaiKK, et al. (2007) Telomere protection by mammalian Pot1 requires interaction with Tpp1. Nat Struct Mol Biol 14: 754–761.
56. MillerD, ReynoldsGE, MejiaR, StarkJM, MurnaneJP (2011) Subtelomeric regions in mammalian cells are deficient in DNA double-strand break repair. DNA Repair (Amst) 10: 536–544.
57. KarlsederJ, HokeK, MirzoevaOK, BakkenistC, KastanMB, et al. (2004) The telomeric protein TRF2 binds the ATM kinase and can inhibit the ATM-dependent DNA damage response. PLoS Biol 2: e240 doi:10.1371/journal.pbio.0020240
58. BenettiR, Garcia-CaoM, BlascoMA (2007) Telomere length regulates the epigenetic status of mammalian telomeres and subtelomeres. Nat Genet 39: 243–250.
59. PedramM, SprungCN, GaoQ, LoAW, ReynoldsGE, et al. (2006) Telomere position effect and silencing of transgenes near telomeres in the mouse. Mol Cell Biol 26: 1865–1878.
60. AttwoollCL, AkpinarM, PetriniJH (2009) The mre11 complex and the response to dysfunctional telomeres. Mol Cell Biol 29: 5540–5551.
61. DimitrovaN, de LangeT (2009) Cell cycle-dependent role of MRN at dysfunctional telomeres: ATM signaling-dependent induction of nonhomologous end joining (NHEJ) in G1 and resection-mediated inhibition of NHEJ in G2. Mol Cell Biol 29: 5552–5563.
62. HewittG, JurkD, MarquesFD, Correia-MeloC, HardyT, et al. (2012) Telomeres are favoured targets of a persistent DNA damage response in ageing and stress-induced senescence. Nat Commun 3: 708.
63. FumagalliM, RossielloF, ClericiM, BarozziS, CittaroD, et al. (2012) Telomeric DNA damage is irreparable and causes persistent DNA-damage-response activation. Nat Cell Biol 14: 355–365.
64. SuramA, KaplunovJ, PatelPL, RuanH, CeruttiA, et al. (2012) Oncogene-induced telomere dysfunction enforces cellular senescence in human cancer precursor lesions. EMBO J 31: 2839–2851.
65. HonmaM, SakurabaM, KoizumiT, TakashimaY, SakamotoH, et al. (2007) Non-homologous end-joining for repairing I-SceI-induced DNA double strand breaks in human cells. DNA Repair (Amst) 6: 781–788.
66. RebuzziniP, KhoriauliL, AzzalinCM, MagnaniE, MondelloC, et al. (2005) New mammalian cellular systems to study mutations introduced at the break site by non-homologous end-joining. DNA Repair (Amst) 4: 546–555.
67. VargaT, AplanPD (2005) Chromosomal aberrations induced by double strand DNA breaks. DNA Repair (Amst) 4: 1038–1046.
68. ZschenkerO, KulkarniA, MillerD, ReynoldsGE, Granger-LocatelliM, et al. (2009) Increased sensitivity of subtelomeric regions to DNA double-strand breaks in a human tumor cell line. DNA Repair (Amst) 8: 886–900.
69. FouladiB, MillerD, SabatierL, MurnaneJP (2000) The relationship between spontaneous telomere loss and chromosome instability in a human tumor cell line. Neoplasia 2: 540–554.
70. SabatierL, RicoulM, PottierG, MurnaneJP (2005) The loss of a single telomere can result in genomic instability involving multiple chromosomes in a human tumor cell line. Mol Cancer Res 3: 139–150.
71. KulkarniA, ZschenkerO, ReynoldsG, MillerD, MurnaneJP (2010) The effect of telomere proximity on telomere position effect, chromosome healing and sensitivity to DNA double-strand breaks in a human tumor cell line. Mol Cell Biol 30: 578–589.
72. KoeringCE, PolliceA, ZibellaMP, BauwensS, PuisieuxA, et al. (2002) Human telomeric position effect is determined by chromosomal context and telomeric chromatin integrity. EMBO Rep 3: 1055–1061.
73. BaurJA, ZouY, ShayJW, WrightWE (2001) Telomere position effect in human cells. Science 292: 2075–2077.
74. SimsekD, JasinM (2010) Alternative end-joining is suppressed by the canonical NHEJ component Xrcc4-ligase IV during chromosomal translocation formation. Nat Struct Mol Biol 17: 410–416.
75. WeinstockDM, ElliottB, JasinM (2006) A model of oncogenic rearrangements: differences between chromosomal translocation mechanisms and simple double-strand break repair. Blood 107: 777–780.
76. WilliamsRS, DodsonGE, LimboO, YamadaY, WilliamsJS, et al. (2009) Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA double-strand break processing and repair. Cell 139: 87–99.
77. GrabarzA, BarascuA, Guirouilh-BarbatJ, LopezBS (2012) Initiation of DNA double strand break repair: signaling and single-stranded resection dictate the choice between homologous recombination, non-homologous end-joining and alternative end-joining. Am J Cancer Res 2: 249–268.
78. BennardoN, StarkJM (2010) ATM limits incorrect end utilization during non-homologous end joining of multiple chromosome breaks. PLoS Genet 6: e1001194 doi:10.1371/journal.pgen.1001194
79. WhiteJS, ChoiS, BakkenistCJ (2010) Transient ATM kinase inhibition disrupts DNA damage-induced sister chromatid exchange. Sci Signal 3: ra44.
80. DanielJA, PellegriniM, LeeBS, GuoZ, FilsufD, et al. (2012) Loss of ATM kinase activity leads to embryonic lethality in mice. J Cell Biol 198: 295–304.
81. YamamotoK, WangY, JiangW, LiuX, DuboisRL, et al. (2012) Kinase-dead ATM protein causes genomic instability and early embryonic lethality in mice. J Cell Biol 198: 305–313.
82. BaroneG, GroomA, ReimanA, SrinivasanV, ByrdPJ, et al. (2009) Modeling ATM mutant proteins from missense changes confirms retained kinase activity. Hum Mutat 30: 1222–1230.
83. ChoiS, GamperAM, WhiteJS, BakkenistCJ (2010) Inhibition of ATM kinase activity does not phenocopy ATM protein disruption: implications for the clinical utility of ATM kinase inhibitors. Cell Cycle 9: 4052–4057.
84. BennardoN, GunnA, ChengA, HastyP, StarkJM (2009) Limiting the persistence of a chromosome break diminishes its mutagenic potential. PLoS Genet 5: e1000683 doi:10.1371/journal.pgen.1000683
85. ShaharOD, RamEV, ShimshoniE, HareliS, MeshorerE, et al. (2012) Live imaging of induced and controlled DNA double-strand break formation reveals extremely low repair by homologous recombination in human cells. Oncogene 31: 3495–3504.
86. Kanikarla-MarieP, RonaldS, De BenedettiA (2011) Nucleosome resection at a double-strand break during Non-Homologous Ends Joining in mammalian cells - implications from repressive chromatin organization and the role of ARTEMIS. BMC Res Notes 4: 13.
87. GoodarziAA, NoonAT, DeckbarD, ZivY, ShilohY, et al. (2008) ATM signaling facilitates repair of DNA double-strand breaks associated with heterochromatin. Mol Cell 31: 167–177.
88. RaiR, ZhengH, HeH, LuoY, MultaniA, et al. (2010) The function of classical and alternative non-homologous end-joining pathways in the fusion of dysfunctional telomeres. EMBO J 29: 2598–2610.
89. LoAWI, SprungCN, FouladiB, PedramM, SabatierL, et al. (2002) Chromosome instability as a result of double-strand breaks near telomeres in mouse embryonic stem cells. Mol Cell Biol 22: 4836–4850.
90. CapperR, Britt-ComptonB, TankimanovaM, RowsonJ, LetsoloB, et al. (2007) The nature of telomere fusion and a definition of the critical telomere length in human cells. Genes Dev 21: 2495–2508.
91. TanakaH, AbeS, HudaN, TuL, BeamMJ, et al. (2012) Telomere fusions in early human breast carcinoma. Proc Natl Acad Sci U S A 109: 14098–14103.
92. ChapmanJR, TaylorMR, BoultonSJ (2012) Playing the end game: DNA double-strand break repair pathway choice. Mol Cell 47: 497–510.
93. LoAWI, SabatierL, FouladiB, PottierG, RicoulM, et al. (2002) DNA amplification by breakage/fusion/bridge cycles initiated by spontaneous telomere loss in a human cancer cell line. Neoplasia 6: 531–538.
94. GisselssonD, JonsonT, PetersenA, StrombeckB, Dal CinP, et al. (2001) Telomere dysfunction triggers extensive DNA fragmentation and evolution of complex chromosome abnormalities in human malignant tumors. Proc Natl Acad Sci USA 98: 12683–12688.
95. LinardopoulouEV, WilliamsEM, FanY, FriedmanC, YoungJM, et al. (2005) Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature 437: 94–100.
96. CotterPD, KaffeS, LiL, GershinIF, HirschhornK (2001) Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. Am J Med Genet 102: 76–80.
97. HooJJ, ChaoM, SzegoK, RauerM, EchiverriSC, et al. (1995) Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin. Am J Med Genet 58: 299–304.
98. SouthST, SwensenJJ, MaxwellT, RopeA, BrothmanAR, et al. (2006) A new genomic mechanism leading to cri-du-chat syndrome. Am J Med Genet A 140: 2714–2720.
99. YuS, GrafWD (2010) Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication. Cytogenet Genome Res 129: 265–274.
100. ZuffardiO, BonagliaM, CicconeR, GiordaR (2009) Inverted duplications deletions: underdiagnosed rearrangements?? Clin Genet 75: 505–513.
101. O'TooleCM, PoveyS, HepburnP, FranksLM (1983) Identity of some human bladder cancer cell lines. Nature 301: 429–430.
102. HicksonI, ZhaoY, RichardsonCJ, GreenSJ, MartinNM, et al. (2004) Identification and characterization of a novel and specific inhibitor of the ataxia-telangiectasia mutated kinase ATM. Cancer Res 64: 9152–9159.
103. StohrBA, BlackburnEH (2008) ATM mediates cytotoxicity of a mutant telomerase RNA in human cancer cells. Cancer Res 68: 5309–5317.
104. GaoQ, ReynoldsGE, WilcoxA, MillerD, CheungP, et al. (2008) Telomerase-dependent and -independent chromosome healing in mouse embryonic stem cells. DNA Repair (Amst) 7: 1233–1249.