메뉴 건너뛰기




Volumn 284, Issue 15, 2017, Pages 2324-2344

Genomic rearrangements induced by unscheduled DNA double strand breaks in somatic mammalian cells

Author keywords

double strand break; double strand break repair; genome instability; genome rearrangements; homologous recombination; non homologous end joining

Indexed keywords

ENDONUCLEASE;

EID: 85016557118     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/febs.14053     Document Type: Review
Times cited : (33)

References (159)
  • 2
    • 0035902108 scopus 로고    scopus 로고
    • Genome maintenance mechanisms for preventing cancer
    • Hoeijmakers JH (2001) Genome maintenance mechanisms for preventing cancer. Nature 411, 366–374.
    • (2001) Nature , vol.411 , pp. 366-374
    • Hoeijmakers, J.H.1
  • 3
    • 33644765799 scopus 로고    scopus 로고
    • Cell biology: ageing nucleus gets out of shape
    • Lans H & Hoeijmakers JH (2006) Cell biology: ageing nucleus gets out of shape. Nature 440, 32–34.
    • (2006) Nature , vol.440 , pp. 32-34
    • Lans, H.1    Hoeijmakers, J.H.2
  • 5
    • 0025937091 scopus 로고
    • Structural and functional chimerism results from chromosomal translocation in lymphoid tumors
    • Rabbitts T & Boehm T (1991) Structural and functional chimerism results from chromosomal translocation in lymphoid tumors. Adv Immunol 50, 119–146.
    • (1991) Adv Immunol , vol.50 , pp. 119-146
    • Rabbitts, T.1    Boehm, T.2
  • 7
    • 0028139463 scopus 로고
    • The retinoblastoma tumor suppressor protein
    • Wang JY, Knudsen ES & Welch PJ (1994) The retinoblastoma tumor suppressor protein. Adv Cancer Res 64, 25–85.
    • (1994) Adv Cancer Res , vol.64 , pp. 25-85
    • Wang, J.Y.1    Knudsen, E.S.2    Welch, P.J.3
  • 8
    • 84869173265 scopus 로고    scopus 로고
    • Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements
    • Holland AJ & Cleveland DW (2012) Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements. Nat Med 18, 1630–1638.
    • (2012) Nat Med , vol.18 , pp. 1630-1638
    • Holland, A.J.1    Cleveland, D.W.2
  • 12
    • 0035898405 scopus 로고    scopus 로고
    • Characterization of homologous recombination induced by replication inhibition in mammalian cells
    • Saintigny Y, Delacote F, Vares G, Petitot F, Lambert S, Averbeck D & Lopez BS (2001) Characterization of homologous recombination induced by replication inhibition in mammalian cells. EMBO J 20, 3861–3870.
    • (2001) EMBO J , vol.20 , pp. 3861-3870
    • Saintigny, Y.1    Delacote, F.2    Vares, G.3    Petitot, F.4    Lambert, S.5    Averbeck, D.6    Lopez, B.S.7
  • 13
    • 84926226900 scopus 로고    scopus 로고
    • Replication fork reversal in eukaryotes: from dead end to dynamic response
    • Neelsen KJ & Lopes M (2015) Replication fork reversal in eukaryotes: from dead end to dynamic response. Nat Rev Mol Cell Biol 16, 207–220.
    • (2015) Nat Rev Mol Cell Biol , vol.16 , pp. 207-220
    • Neelsen, K.J.1    Lopes, M.2
  • 15
    • 84891301320 scopus 로고    scopus 로고
    • Causes and consequences of replication stress
    • Zeman MK & Cimprich KA (2014) Causes and consequences of replication stress. Nat Cell Biol 16, 2–9.
    • (2014) Nat Cell Biol , vol.16 , pp. 2-9
    • Zeman, M.K.1    Cimprich, K.A.2
  • 20
    • 84881480253 scopus 로고    scopus 로고
    • Increased replication initiation and conflicts with transcription underlie Cyclin E-induced replication stress
    • Jones RM, Mortusewicz O, Afzal I, Lorvellec M, García P, Helleday T & Petermann E (2013) Increased replication initiation and conflicts with transcription underlie Cyclin E-induced replication stress. Oncogene 32, 3744–3753.
    • (2013) Oncogene , vol.32 , pp. 3744-3753
    • Jones, R.M.1    Mortusewicz, O.2    Afzal, I.3    Lorvellec, M.4    García, P.5    Helleday, T.6    Petermann, E.7
  • 23
    • 0042743766 scopus 로고    scopus 로고
    • Dynamics of DNA replication in mammalian somatic cells: nucleotide pool modulates origin choice and interorigin spacing
    • Anglana M, Apiou F, Bensimon A & Debatisse M (2003) Dynamics of DNA replication in mammalian somatic cells: nucleotide pool modulates origin choice and interorigin spacing. Cell 114, 385–394.
    • (2003) Cell , vol.114 , pp. 385-394
    • Anglana, M.1    Apiou, F.2    Bensimon, A.3    Debatisse, M.4
  • 25
    • 84957933027 scopus 로고    scopus 로고
    • Signaling from Mus81-Eme2-dependent DNA damage elicited by Chk1 deficiency modulates replication fork speed and origin usage
    • Técher H, Koundrioukoff S, Carignon S, Wilhelm T, Millot GA, Lopez BS, Brison O & Debatisse M (2016) Signaling from Mus81-Eme2-dependent DNA damage elicited by Chk1 deficiency modulates replication fork speed and origin usage. Cell Rep 14, 1114–1127.
    • (2016) Cell Rep , vol.14 , pp. 1114-1127
    • Técher, H.1    Koundrioukoff, S.2    Carignon, S.3    Wilhelm, T.4    Millot, G.A.5    Lopez, B.S.6    Brison, O.7    Debatisse, M.8
  • 26
    • 84880784164 scopus 로고    scopus 로고
    • Stepwise activation of the ATR signaling pathway upon increasing replication stress impacts fragile site integrity
    • Koundrioukoff S, Carignon S, Techer H, Letessier A, Brison O & Debatisse M (2013) Stepwise activation of the ATR signaling pathway upon increasing replication stress impacts fragile site integrity. PLoS Genet 9, e1003643.
    • (2013) PLoS Genet , vol.9
    • Koundrioukoff, S.1    Carignon, S.2    Techer, H.3    Letessier, A.4    Brison, O.5    Debatisse, M.6
  • 30
    • 84885843614 scopus 로고    scopus 로고
    • How unfinished business from S-phase affects mitosis and beyond
    • Mankouri HW, Huttner D & Hickson ID (2013) How unfinished business from S-phase affects mitosis and beyond. EMBO J 32, 2661–2671.
    • (2013) EMBO J , vol.32 , pp. 2661-2671
    • Mankouri, H.W.1    Huttner, D.2    Hickson, I.D.3
  • 31
    • 84892616274 scopus 로고    scopus 로고
    • Spontaneous slow replication fork progression elicits mitosis alterations in homologous recombination-deficient mammalian cells
    • Wilhelm T, Magdalou I, Barascu A, Técher H, Debatisse M & Lopez BS (2014) Spontaneous slow replication fork progression elicits mitosis alterations in homologous recombination-deficient mammalian cells. Proc Natl Acad Sci USA 111, 763–768.
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. 763-768
    • Wilhelm, T.1    Magdalou, I.2    Barascu, A.3    Técher, H.4    Debatisse, M.5    Lopez, B.S.6
  • 32
    • 67349187702 scopus 로고    scopus 로고
    • The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities
    • Naim V & Rosselli F (2009) The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities. Nat Cell Biol 11, 761–768.
    • (2009) Nat Cell Biol , vol.11 , pp. 761-768
    • Naim, V.1    Rosselli, F.2
  • 33
    • 67349227137 scopus 로고    scopus 로고
    • Replication stress induces sister-chromatid bridging at fragile site loci in mitosis
    • Chan KL, Palmai-Pallag T, Ying S & Hickson ID (2009) Replication stress induces sister-chromatid bridging at fragile site loci in mitosis. Nat Cell Biol 11, 753–760.
    • (2009) Nat Cell Biol , vol.11 , pp. 753-760
    • Chan, K.L.1    Palmai-Pallag, T.2    Ying, S.3    Hickson, I.D.4
  • 34
    • 84881471113 scopus 로고    scopus 로고
    • ERCC1 and MUS81–EME1 promote sister chromatid separation by processing late replication intermediates at common fragile sites during mitosis
    • Naim V, Wilhelm T, Debatisse M & Rosselli F (2013) ERCC1 and MUS81–EME1 promote sister chromatid separation by processing late replication intermediates at common fragile sites during mitosis. Nat Cell Biol 15, 1008–1015.
    • (2013) Nat Cell Biol , vol.15 , pp. 1008-1015
    • Naim, V.1    Wilhelm, T.2    Debatisse, M.3    Rosselli, F.4
  • 37
  • 41
    • 84255198334 scopus 로고    scopus 로고
    • Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes
    • Helmrich A, Ballarino M & Tora L (2011) Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes. Mol Cell 44, 966–977.
    • (2011) Mol Cell , vol.44 , pp. 966-977
    • Helmrich, A.1    Ballarino, M.2    Tora, L.3
  • 42
    • 84881615685 scopus 로고    scopus 로고
    • Common fragile site profiling in epithelial and erythroid cells reveals that most recurrent cancer deletions lie in fragile sites hosting large genes
    • Le Tallec B, Millot GA, Blin ME, Brison O, Dutrillaux B & Debatisse M (2013) Common fragile site profiling in epithelial and erythroid cells reveals that most recurrent cancer deletions lie in fragile sites hosting large genes. Cell Rep 4, 420–428.
    • (2013) Cell Rep , vol.4 , pp. 420-428
    • Le Tallec, B.1    Millot, G.A.2    Blin, M.E.3    Brison, O.4    Dutrillaux, B.5    Debatisse, M.6
  • 43
    • 84925096261 scopus 로고    scopus 로고
    • Short inverted repeats are hotspots for genetic instability: relevance to cancer genomes
    • Lu S, Wang G, Bacolla A, Zhao J, Spitser S & Vasquez KM (2015) Short inverted repeats are hotspots for genetic instability: relevance to cancer genomes. Cell Rep 10, 1674–1680.
    • (2015) Cell Rep , vol.10 , pp. 1674-1680
    • Lu, S.1    Wang, G.2    Bacolla, A.3    Zhao, J.4    Spitser, S.5    Vasquez, K.M.6
  • 44
    • 33644543741 scopus 로고    scopus 로고
    • Z-DNA-forming sequences generate large-scale deletions in mammalian cells
    • Wang G, Christensen LA & Vasquez KM (2006) Z-DNA-forming sequences generate large-scale deletions in mammalian cells. Proc Natl Acad Sci USA 103, 2677–2682.
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 2677-2682
    • Wang, G.1    Christensen, L.A.2    Vasquez, K.M.3
  • 45
    • 0024437912 scopus 로고
    • Alternating purine pyrimidine tracts may promote chromosomal translocations seen in a variety of human lymphoid tumours
    • Boehm T, Mengle-Gawl L, Kees2 UR, Spurr3 N, Lavenir I, Forster A & Rabbitts TH (1989) Alternating purine pyrimidine tracts may promote chromosomal translocations seen in a variety of human lymphoid tumours. EMBO J 8, 2621–2631.
    • (1989) EMBO J , vol.8 , pp. 2621-2631
    • Boehm, T.1    Mengle-Gawl, L.2    Kees, U.R.3    Spurr, N.4    Lavenir, I.5    Forster, A.6    Rabbitts, T.H.7
  • 46
    • 79958724230 scopus 로고    scopus 로고
    • Analysis of a breakpoint cluster reveals insight into the mechanism of intrachromosomal amplification in a lymphoid malignancy
    • Sinclair PB, Parker H, An Q, Rand V, Ensor H, Harrison CJ & Strefford JC (2011) Analysis of a breakpoint cluster reveals insight into the mechanism of intrachromosomal amplification in a lymphoid malignancy. Hum Mol Genet 20, 2591–2602.
    • (2011) Hum Mol Genet , vol.20 , pp. 2591-2602
    • Sinclair, P.B.1    Parker, H.2    An, Q.3    Rand, V.4    Ensor, H.5    Harrison, C.J.6    Strefford, J.C.7
  • 47
    • 0029036249 scopus 로고
    • Occurrence of potential cruciform and H-DNA forming sequences in genomic DNA
    • Schroth GP & Ho PS (1995) Occurrence of potential cruciform and H-DNA forming sequences in genomic DNA. Nucleic Acids Res 23, 1977–1983.
    • (1995) Nucleic Acids Res , vol.23 , pp. 1977-1983
    • Schroth, G.P.1    Ho, P.S.2
  • 48
    • 0043264447 scopus 로고    scopus 로고
    • Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs
    • Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV & Cooper DN (2003) Translocation and gross deletion breakpoints in human inherited disease and cancer I: nucleotide composition and recombination-associated motifs. Hum Mutat 22, 229–244.
    • (2003) Hum Mutat , vol.22 , pp. 229-244
    • Abeysinghe, S.S.1    Chuzhanova, N.2    Krawczak, M.3    Ball, E.V.4    Cooper, D.N.5
  • 49
    • 13444301307 scopus 로고    scopus 로고
    • Mechanism and control of V(D)J recombination versus class switch recombination: similarities and differences
    • Dudley DD, Chaudhuri J, Bassing CH & Alt FW (2005) Mechanism and control of V(D)J recombination versus class switch recombination: similarities and differences. Adv Immunol 86, 43–112.
    • (2005) Adv Immunol , vol.86 , pp. 43-112
    • Dudley, D.D.1    Chaudhuri, J.2    Bassing, C.H.3    Alt, F.W.4
  • 50
    • 0033934684 scopus 로고    scopus 로고
    • Postcleavage sequence specificity in V(D)J recombination
    • Agard EA & Lewis SM (2000) Postcleavage sequence specificity in V(D)J recombination. Mol Cell Biol 20, 5032–5040.
    • (2000) Mol Cell Biol , vol.20 , pp. 5032-5040
    • Agard, E.A.1    Lewis, S.M.2
  • 51
    • 3042736733 scopus 로고    scopus 로고
    • Involvement of V(D)J recombinase in the generation of intragenic deletions in the Rit1/Bcl11b tumor suppressor gene in gamma-ray-induced thymic lymphomas and in normal thymus of the mouse
    • Sakata J, Inoue J, Ohi H, Kosugi-Okano H, Mishima Y, Hatakeyama K, Niwa O & Kominami R (2004) Involvement of V(D)J recombinase in the generation of intragenic deletions in the Rit1/Bcl11b tumor suppressor gene in gamma-ray-induced thymic lymphomas and in normal thymus of the mouse. Carcinogenesis 25, 1069–1075.
    • (2004) Carcinogenesis , vol.25 , pp. 1069-1075
    • Sakata, J.1    Inoue, J.2    Ohi, H.3    Kosugi-Okano, H.4    Mishima, Y.5    Hatakeyama, K.6    Niwa, O.7    Kominami, R.8
  • 53
    • 1542287213 scopus 로고    scopus 로고
    • A non-B-DNA structure at the Bcl-2 major breakpoint region is cleaved by the RAG complex
    • Raghavan SC, Swanson PC, Wu X, Hsieh C-L & Lieber MR (2004) A non-B-DNA structure at the Bcl-2 major breakpoint region is cleaved by the RAG complex. Nature 428, 88–93.
    • (2004) Nature , vol.428 , pp. 88-93
    • Raghavan, S.C.1    Swanson, P.C.2    Wu, X.3    Hsieh, C.-L.4    Lieber, M.R.5
  • 54
    • 79953032797 scopus 로고    scopus 로고
    • Mechanisms that promote and suppress chromosomal translocations in lymphocytes
    • Gostissa M, Alt FW & Chiarle R (2011) Mechanisms that promote and suppress chromosomal translocations in lymphocytes. Annu Rev Immunol 29, 319–350.
    • (2011) Annu Rev Immunol , vol.29 , pp. 319-350
    • Gostissa, M.1    Alt, F.W.2    Chiarle, R.3
  • 55
    • 0037033440 scopus 로고    scopus 로고
    • V(D)J-mediated translocations in lymphoid neoplasms: a functional assessment of genomic instability by cryptic sites
    • Marculescu R, Le T, Simon P, Jaeger U & Nadel B (2002) V(D)J-mediated translocations in lymphoid neoplasms: a functional assessment of genomic instability by cryptic sites. J Exp Med 195, 85–98.
    • (2002) J Exp Med , vol.195 , pp. 85-98
    • Marculescu, R.1    Le, T.2    Simon, P.3    Jaeger, U.4    Nadel, B.5
  • 56
    • 84859441129 scopus 로고    scopus 로고
    • Illegitimate V(D)J recombination involving nonantigen receptor loci in lymphoid malignancy
    • Onozawa M & Aplan PD (2012) Illegitimate V(D)J recombination involving nonantigen receptor loci in lymphoid malignancy. Gen Chromos Cancer 51, 525–535.
    • (2012) Gen Chromos Cancer , vol.51 , pp. 525-535
    • Onozawa, M.1    Aplan, P.D.2
  • 57
    • 57149141010 scopus 로고    scopus 로고
    • Collateral damage from antigen receptor gene diversification
    • Mahowald GK, Baron JM & Sleckman BP (2008) Collateral damage from antigen receptor gene diversification. Cell 135, 1009–1012.
    • (2008) Cell , vol.135 , pp. 1009-1012
    • Mahowald, G.K.1    Baron, J.M.2    Sleckman, B.P.3
  • 59
    • 57349185631 scopus 로고    scopus 로고
    • Human chromosomal translocations at CpG sites and a theoretical basis for their lineage and stage specificity
    • Tsai AG, Lu H, Raghavan SC, Muschen M, Hsieh C-L & Lieber MR (2008) Human chromosomal translocations at CpG sites and a theoretical basis for their lineage and stage specificity. Cell 135, 1130–1142.
    • (2008) Cell , vol.135 , pp. 1130-1142
    • Tsai, A.G.1    Lu, H.2    Raghavan, S.C.3    Muschen, M.4    Hsieh, C.-L.5    Lieber, M.R.6
  • 60
    • 84992699233 scopus 로고    scopus 로고
    • Guardian of the human genome: host defense mechanisms against LINE-1 retrotransposition
    • Ariumi Y (2016) Guardian of the human genome: host defense mechanisms against LINE-1 retrotransposition. Front Chem 4, 28.
    • (2016) Front Chem , vol.4 , pp. 28
    • Ariumi, Y.1
  • 63
    • 84982112297 scopus 로고    scopus 로고
    • Restricting retrotransposons: a review
    • Goodier JL (2016) Restricting retrotransposons: a review. Mob DNA 7, 16.
    • (2016) Mob DNA , vol.7 , pp. 16
    • Goodier, J.L.1
  • 64
    • 46249125488 scopus 로고    scopus 로고
    • How shelterin protects mammalian telomeres
    • Palm W & de Lange T (2008) How shelterin protects mammalian telomeres. Annu Rev Genet 42, 301–334.
    • (2008) Annu Rev Genet , vol.42 , pp. 301-334
    • Palm, W.1    de Lange, T.2
  • 65
    • 0036628726 scopus 로고    scopus 로고
    • Biological consequences of free radical-damaged DNA bases
    • Wallace SS (2002) Biological consequences of free radical-damaged DNA bases. Free Radic Biol Med 33, 1–14.
    • (2002) Free Radic Biol Med , vol.33 , pp. 1-14
    • Wallace, S.S.1
  • 70
    • 84958157371 scopus 로고    scopus 로고
    • Long neural genes harbor recurrent DNA break clusters in neural stem/progenitor cells
    • Wei P-C, Chang AN, Kao J, Du Z, Meyers RM, Alt FW & Schwer B (2016) Long neural genes harbor recurrent DNA break clusters in neural stem/progenitor cells. Cell 164, 644–655.
    • (2016) Cell , vol.164 , pp. 644-655
    • Wei, P.-C.1    Chang, A.N.2    Kao, J.3    Du, Z.4    Meyers, R.M.5    Alt, F.W.6    Schwer, B.7
  • 73
    • 79956225907 scopus 로고    scopus 로고
    • Clustered DNA lesion repair in eukaryotes: relevance to mutagenesis and cell survival
    • Sage E & Harrison L (2011) Clustered DNA lesion repair in eukaryotes: relevance to mutagenesis and cell survival. Mutat Res 711, 123–133.
    • (2011) Mutat Res , vol.711 , pp. 123-133
    • Sage, E.1    Harrison, L.2
  • 75
    • 55549128608 scopus 로고    scopus 로고
    • Transcription-coupled DNA double-strand breaks are mediated via the nucleotide excision repair and the Mre11-Rad50-Nbs1 complex
    • Guirouilh-Barbat J, Redon C & Pommier Y (2008) Transcription-coupled DNA double-strand breaks are mediated via the nucleotide excision repair and the Mre11-Rad50-Nbs1 complex. Mol Biol Cell 19, 3969–3981.
    • (2008) Mol Biol Cell , vol.19 , pp. 3969-3981
    • Guirouilh-Barbat, J.1    Redon, C.2    Pommier, Y.3
  • 76
    • 84896717088 scopus 로고    scopus 로고
    • Is non-homologous end-joining really an inherently error-prone process?
    • Bétermier M, Bertrand P & Lopez BS (2014) Is non-homologous end-joining really an inherently error-prone process? PLoS Genet 10, e1004086.
    • (2014) PLoS Genet , vol.10
    • Bétermier, M.1    Bertrand, P.2    Lopez, B.S.3
  • 78
    • 0034621854 scopus 로고    scopus 로고
    • Frequent chromosomal translocations induced by DNA double-strand breaks
    • Richardson C & Jasin M (2000) Frequent chromosomal translocations induced by DNA double-strand breaks. Nature 405, 697–700.
    • (2000) Nature , vol.405 , pp. 697-700
    • Richardson, C.1    Jasin, M.2
  • 79
    • 79955799175 scopus 로고    scopus 로고
    • Double-strand break repair-independent role for BRCA2 in blocking stalled replication fork degradation by MRE11
    • Schlacher K, Christ N, Siaud N, Egashira A, Wu H & Jasin M (2011) Double-strand break repair-independent role for BRCA2 in blocking stalled replication fork degradation by MRE11. Cell 145, 529–542.
    • (2011) Cell , vol.145 , pp. 529-542
    • Schlacher, K.1    Christ, N.2    Siaud, N.3    Egashira, A.4    Wu, H.5    Jasin, M.6
  • 80
    • 84861888851 scopus 로고    scopus 로고
    • Mre11-dependent degradation of stalled DNA replication forks is prevented by BRCA2 and PARP1
    • Ying S, Hamdy FC & Helleday T (2012) Mre11-dependent degradation of stalled DNA replication forks is prevented by BRCA2 and PARP1. Cancer Res 72, 2814–2821.
    • (2012) Cancer Res , vol.72 , pp. 2814-2821
    • Ying, S.1    Hamdy, F.C.2    Helleday, T.3
  • 83
    • 68249146431 scopus 로고    scopus 로고
    • Role of mammalian Mre11 in classical and alternative nonhomologous end joining
    • Xie A, Kwok A & Scully R (2009) Role of mammalian Mre11 in classical and alternative nonhomologous end joining. Nat Struct Mol Biol 16, 814–818.
    • (2009) Nat Struct Mol Biol , vol.16 , pp. 814-818
    • Xie, A.1    Kwok, A.2    Scully, R.3
  • 84
    • 46249131123 scopus 로고    scopus 로고
    • Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair
    • Bennardo N, Cheng A, Huang N & Stark JM (2008) Alternative-NHEJ is a mechanistically distinct pathway of mammalian chromosome break repair. PLoS Genet 4, e1000110.
    • (2008) PLoS Genet , vol.4
    • Bennardo, N.1    Cheng, A.2    Huang, N.3    Stark, J.M.4
  • 86
    • 78650995499 scopus 로고    scopus 로고
    • An essential role for CtIP in chromosomal translocation formation through an alternative end-joining pathway
    • Zhang Y & Jasin M (2011) An essential role for CtIP in chromosomal translocation formation through an alternative end-joining pathway. Nat Struct Mol Biol 18, 80–84.
    • (2011) Nat Struct Mol Biol , vol.18 , pp. 80-84
    • Zhang, Y.1    Jasin, M.2
  • 88
    • 84871192059 scopus 로고    scopus 로고
    • 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
    • Grabarz A, Barascu A, Guirouilh-barbat J & Lopez BS (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.
    • (2012) Am J Cancer Res , vol.2 , pp. 249-268
    • Grabarz, A.1    Barascu, A.2    Guirouilh-barbat, J.3    Lopez, B.S.4
  • 89
    • 40749132229 scopus 로고    scopus 로고
    • S-phase progression stimulates both the mutagenic KU-independent pathway and mutagenic processing of KU-dependent intermediates, for nonhomologous end joining
    • Guirouilh-Barbat J, Huck S & Lopez BS (2008) S-phase progression stimulates both the mutagenic KU-independent pathway and mutagenic processing of KU-dependent intermediates, for nonhomologous end joining. Oncogene 27, 1726–1736.
    • (2008) Oncogene , vol.27 , pp. 1726-1736
    • Guirouilh-Barbat, J.1    Huck, S.2    Lopez, B.S.3
  • 90
    • 0035893363 scopus 로고    scopus 로고
    • Ku DNA end-binding protein modulates homologous repair of double-strand breaks in mammalian cells
    • Pierce AJ, Hu P, Han M, Ellis N & Jasin M (2001) Ku DNA end-binding protein modulates homologous repair of double-strand breaks in mammalian cells. Genes Dev 15, 3237–3242.
    • (2001) Genes Dev , vol.15 , pp. 3237-3242
    • Pierce, A.J.1    Hu, P.2    Han, M.3    Ellis, N.4    Jasin, M.5
  • 91
    • 0036682122 scopus 로고    scopus 로고
    • An xrcc4 defect or Wortmannin stimulates homologous recombination specifically induced by double-strand breaks in mammalian cells
    • Delacote F, Han M, Stamato TD, Jasin M & Lopez BS (2002) An xrcc4 defect or Wortmannin stimulates homologous recombination specifically induced by double-strand breaks in mammalian cells. Nucleic Acids Res 30, 3454–3463.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3454-3463
    • Delacote, F.1    Han, M.2    Stamato, T.D.3    Jasin, M.4    Lopez, B.S.5
  • 92
    • 84873990373 scopus 로고    scopus 로고
    • The role of BRCA1 in DNA double-strand repair: past and present
    • Caestecker KW & Van de Walle GR (2013) The role of BRCA1 in DNA double-strand repair: past and present. Exp Cell Res 319, 575–587.
    • (2013) Exp Cell Res , vol.319 , pp. 575-587
    • Caestecker, K.W.1    Van de Walle, G.R.2
  • 93
    • 84875998428 scopus 로고    scopus 로고
    • BRCA1-Ku80 protein interaction enhances end-joining fidelity of chromosomal double-strand breaks in the G1 phase of the cell cycle
    • Jiang G, Plo I, Wang T, Rahman M, Cho JH, Yang E, Lopez BS & Xia F (2013) BRCA1-Ku80 protein interaction enhances end-joining fidelity of chromosomal double-strand breaks in the G1 phase of the cell cycle. J Biol Chem 288, 8966–8976.
    • (2013) J Biol Chem , vol.288 , pp. 8966-8976
    • Jiang, G.1    Plo, I.2    Wang, T.3    Rahman, M.4    Cho, J.H.5    Yang, E.6    Lopez, B.S.7    Xia, F.8
  • 95
    • 53649090109 scopus 로고    scopus 로고
    • DNA helicases Sgs1 and BLM promote DNA double-strand break resection
    • Gravel S, Chapman JR, Magill C & Jackson SP (2008) DNA helicases Sgs1 and BLM promote DNA double-strand break resection. Genes Dev 22, 2767–2772.
    • (2008) Genes Dev , vol.22 , pp. 2767-2772
    • Gravel, S.1    Chapman, J.R.2    Magill, C.3    Jackson, S.P.4
  • 97
    • 0007383587 scopus 로고
    • Mutation in the CYP21B gene (Ile-172—Asn) causes steroid 21- hydroxylase deficiency
    • Amor M, Parker KL, Globerman H, New MI & White PC (1988) Mutation in the CYP21B gene (Ile-172—Asn) causes steroid 21- hydroxylase deficiency. Proc Natl Acad Sci USA 85, 1600–1604.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 1600-1604
    • Amor, M.1    Parker, K.L.2    Globerman, H.3    New, M.I.4    White, P.C.5
  • 100
    • 0030929515 scopus 로고    scopus 로고
    • Recombination hot spots and human disease
    • Purandare SM & Patel PI (1997) Recombination hot spots and human disease. Genome Res 7, 773–786.
    • (1997) Genome Res , vol.7 , pp. 773-786
    • Purandare, S.M.1    Patel, P.I.2
  • 102
    • 85000605739 scopus 로고    scopus 로고
    • Complex breakpoints and template switching associated with non-canonical termination of homologous recombination in mammalian cells
    • Hartlerode AJ, Willis NA, Rajendran A, Manis JP & Scully R (2016) Complex breakpoints and template switching associated with non-canonical termination of homologous recombination in mammalian cells. PLoS Genet 12, e1006410.
    • (2016) PLoS Genet , vol.12
    • Hartlerode, A.J.1    Willis, N.A.2    Rajendran, A.3    Manis, J.P.4    Scully, R.5
  • 104
    • 0034119866 scopus 로고    scopus 로고
    • Homologous recombination is responsible for cell death in the absence of the Sgs1 and Srs2 helicases
    • Gangloff S, Soustelle C & Fabre F (2000) Homologous recombination is responsible for cell death in the absence of the Sgs1 and Srs2 helicases. Nat Genet 25, 192–194.
    • (2000) Nat Genet , vol.25 , pp. 192-194
    • Gangloff, S.1    Soustelle, C.2    Fabre, F.3
  • 107
    • 69249209608 scopus 로고    scopus 로고
    • RecQ helicases: multifunctional genome caretakers
    • Chu WK & Hickson ID (2009) RecQ helicases: multifunctional genome caretakers. Nat Rev Cancer 9, 644–654.
    • (2009) Nat Rev Cancer , vol.9 , pp. 644-654
    • Chu, W.K.1    Hickson, I.D.2
  • 108
    • 2442477786 scopus 로고    scopus 로고
    • p53's double life: transactivation-independent repression of homologous recombination
    • Bertrand P, Saintigny Y & Lopez BS (2004) p53's double life: transactivation-independent repression of homologous recombination. Trends Genet 20, 235–243.
    • (2004) Trends Genet , vol.20 , pp. 235-243
    • Bertrand, P.1    Saintigny, Y.2    Lopez, B.S.3
  • 109
    • 84865644725 scopus 로고    scopus 로고
    • The secret life of Bcl-2: Apoptosis-independent inhibition of DNA repair by Bcl-2 family members
    • Laulier C & Lopez BS (2012) The secret life of Bcl-2: Apoptosis-independent inhibition of DNA repair by Bcl-2 family members. Mutat Res Mutat Res 751, 247–257.
    • (2012) Mutat Res Mutat Res , vol.751 , pp. 247-257
    • Laulier, C.1    Lopez, B.S.2
  • 111
    • 79957998467 scopus 로고    scopus 로고
    • AKT1/BRCA1 in the control of homologous recombination and genetic stability: the missing link between hereditary and sporadic breast cancers
    • Guirouilh-Barbat J, Wilhelm T & Lopez BS (2010) AKT1/BRCA1 in the control of homologous recombination and genetic stability: the missing link between hereditary and sporadic breast cancers. Oncotarget 1, 691–699.
    • (2010) Oncotarget , vol.1 , pp. 691-699
    • Guirouilh-Barbat, J.1    Wilhelm, T.2    Lopez, B.S.3
  • 112
    • 56449128931 scopus 로고    scopus 로고
    • AKT1 inhibits homologous recombination by inducing cytoplasmic retention of BRCA1 and RAD51
    • Plo I, Laulier C, Gauthier L, Lebrun F, Calvo F & Lopez BS (2008) AKT1 inhibits homologous recombination by inducing cytoplasmic retention of BRCA1 and RAD51. Cancer Res 68, 9404–9412.
    • (2008) Cancer Res , vol.68 , pp. 9404-9412
    • Plo, I.1    Laulier, C.2    Gauthier, L.3    Lebrun, F.4    Calvo, F.5    Lopez, B.S.6
  • 114
    • 34547589577 scopus 로고    scopus 로고
    • Formation of NHEJ-derived reciprocal chromosomal translocations does not require Ku70
    • Weinstock DM, Brunet E & Jasin M (2007) Formation of NHEJ-derived reciprocal chromosomal translocations does not require Ku70. Nat Cell Biol 9, 978–981.
    • (2007) Nat Cell Biol , vol.9 , pp. 978-981
    • Weinstock, D.M.1    Brunet, E.2    Jasin, M.3
  • 116
    • 0028061666 scopus 로고
    • Introduction of double-strand breaks into the genome of mouse cells by expression of a rare-cutting endonuclease
    • Rouet P, Smih F & Jasin M (1994) Introduction of double-strand breaks into the genome of mouse cells by expression of a rare-cutting endonuclease. Mol Cell Biol 14, 8096–8106.
    • (1994) Mol Cell Biol , vol.14 , pp. 8096-8106
    • Rouet, P.1    Smih, F.2    Jasin, M.3
  • 119
    • 57049132043 scopus 로고    scopus 로고
    • 53BP1 promotes non-homologous end joining of telomeres by increasing chromatin mobility
    • Dimitrova N, Chen Y-CM, Spector DL & de Lange T (2008) 53BP1 promotes non-homologous end joining of telomeres by increasing chromatin mobility. Nature 456, 524–528.
    • (2008) Nature , vol.456 , pp. 524-528
    • Dimitrova, N.1    Chen, Y.-C.M.2    Spector, D.L.3    de Lange, T.4
  • 120
    • 84946201901 scopus 로고    scopus 로고
    • 53BP1 and the LINC complex promote microtubule-dependent DSB mobility and DNA repair
    • Lottersberger F, Karssemeijer RA, Dimitrova N & De Lange T (2015) 53BP1 and the LINC complex promote microtubule-dependent DSB mobility and DNA repair. Cell 163, 880–893.
    • (2015) Cell , vol.163 , pp. 880-893
    • Lottersberger, F.1    Karssemeijer, R.A.2    Dimitrova, N.3    De Lange, T.4
  • 122
    • 77951057068 scopus 로고    scopus 로고
    • 53BP1 regulates DNA resection and the choice between classical and alternative end joining during class switch recombination
    • Bothmer A, Robbiani DF, Feldhahn N, Gazumyan A, Nussenzweig A & Nussenzweig MC (2010) 53BP1 regulates DNA resection and the choice between classical and alternative end joining during class switch recombination. J Exp Med 207, 855–865.
    • (2010) J Exp Med , vol.207 , pp. 855-865
    • Bothmer, A.1    Robbiani, D.F.2    Feldhahn, N.3    Gazumyan, A.4    Nussenzweig, A.5    Nussenzweig, M.C.6
  • 126
    • 79952314830 scopus 로고    scopus 로고
    • Double-strand breaks in heterochromatin move outside of a dynamic HP1a domain to complete recombinational repair
    • Chiolo I, Minoda A, Colmenares SU, Polyzos A, Costes SV & Karpen GH (2011) Double-strand breaks in heterochromatin move outside of a dynamic HP1a domain to complete recombinational repair. Cell 144, 732–744.
    • (2011) Cell , vol.144 , pp. 732-744
    • Chiolo, I.1    Minoda, A.2    Colmenares, S.U.3    Polyzos, A.4    Costes, S.V.5    Karpen, G.H.6
  • 127
    • 84860517399 scopus 로고    scopus 로고
    • Increased chromosome mobility facilitates homology search during recombination
    • Miné-Hattab J & Rothstein R (2012) Increased chromosome mobility facilitates homology search during recombination. Nat Cell Biol 14, 510–517.
    • (2012) Nat Cell Biol , vol.14 , pp. 510-517
    • Miné-Hattab, J.1    Rothstein, R.2
  • 128
    • 85020374932 scopus 로고    scopus 로고
    • 53BP1 protects against CtIP-dependent capture of ectopic chromosomal sequences at the junction of distant double-strand breaks
    • Guirouilh-Barbat J, Gelot C, Xie A, Dardillac E, Scully R & Lopez BS (2016) 53BP1 protects against CtIP-dependent capture of ectopic chromosomal sequences at the junction of distant double-strand breaks. PLoS Genet 12, e1006230.
    • (2016) PLoS Genet , vol.12
    • Guirouilh-Barbat, J.1    Gelot, C.2    Xie, A.3    Dardillac, E.4    Scully, R.5    Lopez, B.S.6
  • 130
    • 0034632717 scopus 로고    scopus 로고
    • Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice
    • Artandi SE, Chang S, Lee SL, Alson S, Gottlieb GJ, Chin L & DePinho RA (2000) Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice. Nature 406, 641–645.
    • (2000) Nature , vol.406 , pp. 641-645
    • Artandi, S.E.1    Chang, S.2    Lee, S.L.3    Alson, S.4    Gottlieb, G.J.5    Chin, L.6    DePinho, R.A.7
  • 131
    • 77649180958 scopus 로고    scopus 로고
    • Telomeres: protecting chromosomes against genome instability
    • O'Sullivan RJ & Karlseder J (2010) Telomeres: protecting chromosomes against genome instability. Nat Rev Mol Cell Biol 11, 171–181.
    • (2010) Nat Rev Mol Cell Biol , vol.11 , pp. 171-181
    • O'Sullivan, R.J.1    Karlseder, J.2
  • 132
    • 84860456242 scopus 로고    scopus 로고
    • Removal of shelterin reveals the telomere end-protection problem
    • Sfeir A & de Lange T (2012) Removal of shelterin reveals the telomere end-protection problem. Science 336, 593–597.
    • (2012) Science , vol.336 , pp. 593-597
    • Sfeir, A.1    de Lange, T.2
  • 134
    • 84980401125 scopus 로고    scopus 로고
    • The cohesin complex prevents the end-joining of distant DNA double-strand ends in S phase: consequences on genome stability maintenance
    • Gelot C, Guirouilh-Barbat J & Lopez BS (2016) The cohesin complex prevents the end-joining of distant DNA double-strand ends in S phase: consequences on genome stability maintenance. Nucleus 7, 339–345.
    • (2016) Nucleus , vol.7 , pp. 339-345
    • Gelot, C.1    Guirouilh-Barbat, J.2    Lopez, B.S.3
  • 138
    • 79952030327 scopus 로고    scopus 로고
    • Can corruption of chromosome cohesion create a conduit to cancer?
    • Xu H, Tomaszewski JM & Mckay MJ (2011) Can corruption of chromosome cohesion create a conduit to cancer? Nat Rev 11, 199–210.
    • (2011) Nat Rev , vol.11 , pp. 199-210
    • Xu, H.1    Tomaszewski, J.M.2    Mckay, M.J.3
  • 139
    • 84886751857 scopus 로고    scopus 로고
    • DNA in motion during double-strand break repair
    • Miné-Hattab J & Rothstein R (2013) DNA in motion during double-strand break repair. Trends Cell Biol 23, 529–536.
    • (2013) Trends Cell Biol , vol.23 , pp. 529-536
    • Miné-Hattab, J.1    Rothstein, R.2
  • 140
    • 84949660465 scopus 로고    scopus 로고
    • Patching broken DNA: nucleosome dynamics and the repair of DNA breaks
    • Gursoy-Yuzugullu O, House N & Price BD (2016) Patching broken DNA: nucleosome dynamics and the repair of DNA breaks. J Mol Biol 428, 1846–1860.
    • (2016) J Mol Biol , vol.428 , pp. 1846-1860
    • Gursoy-Yuzugullu, O.1    House, N.2    Price, B.D.3
  • 141
    • 62549134411 scopus 로고    scopus 로고
    • Mechanisms for human genomic rearrangements
    • Gu W, Zhang F & Lupski JR (2008) Mechanisms for human genomic rearrangements. Pathogenetics 1, 4.
    • (2008) Pathogenetics , vol.1 , pp. 4
    • Gu, W.1    Zhang, F.2    Lupski, J.R.3
  • 142
    • 84903167737 scopus 로고    scopus 로고
    • Requirement for Parp-1 and DNA ligases 1 or 3 but not of Xrcc1 in chromosomal translocation formation by backup end joining
    • Soni A, Siemann M, Grabos M, Murmann T, Pantelias GE & Iliakis G (2014) Requirement for Parp-1 and DNA ligases 1 or 3 but not of Xrcc1 in chromosomal translocation formation by backup end joining. Nucleic Acids Res 42, 6380–6392.
    • (2014) Nucleic Acids Res , vol.42 , pp. 6380-6392
    • Soni, A.1    Siemann, M.2    Grabos, M.3    Murmann, T.4    Pantelias, G.E.5    Iliakis, G.6
  • 143
    • 59249105978 scopus 로고    scopus 로고
    • A microhomology-mediated break-induced replication model for the origin of human copy number variation
    • Hastings PJ, Ira G & Lupski JR (2009) A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5, e1000327.
    • (2009) PLoS Genet , vol.5
    • Hastings, P.J.1    Ira, G.2    Lupski, J.R.3
  • 144
    • 67649878596 scopus 로고    scopus 로고
    • The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
    • Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD & Lupski JR (2009) The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41, 849–853.
    • (2009) Nat Genet , vol.41 , pp. 849-853
    • Zhang, F.1    Khajavi, M.2    Connolly, A.M.3    Towne, C.F.4    Batish, S.D.5    Lupski, J.R.6
  • 145
    • 67650001851 scopus 로고    scopus 로고
    • Complex human chromosomal and genomic rearrangements
    • Zhang F, Carvalho CM & Lupski JR (2009) Complex human chromosomal and genomic rearrangements. Trends Genet 25, 298–307.
    • (2009) Trends Genet , vol.25 , pp. 298-307
    • Zhang, F.1    Carvalho, C.M.2    Lupski, J.R.3
  • 147
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • Lee JA, Carvalho CMB & Lupski JR (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131, 1235–1247.
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.B.2    Lupski, J.R.3
  • 151
    • 79960693423 scopus 로고    scopus 로고
    • Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients
    • Magrangeas F, Avet-Loiseau H, Munshi NC & Minvielle S (2011) Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients. Blood 118, 675–678.
    • (2011) Blood , vol.118 , pp. 675-678
    • Magrangeas, F.1    Avet-Loiseau, H.2    Munshi, N.C.3    Minvielle, S.4
  • 154
    • 79952120598 scopus 로고    scopus 로고
    • Cancer: When catastrophe strikes a cell
    • Tubio JMC & Estivill X (2011) Cancer: When catastrophe strikes a cell. Nature 470, 476–477.
    • (2011) Nature , vol.470 , pp. 476-477
    • Tubio, J.M.C.1    Estivill, X.2
  • 159
    • 84881101184 scopus 로고    scopus 로고
    • End-joining, translocations and cancer
    • Bunting SF & Nussenzweig A (2013) End-joining, translocations and cancer. Nat Rev Cancer 13, 443–454.
    • (2013) Nat Rev Cancer , vol.13 , pp. 443-454
    • Bunting, S.F.1    Nussenzweig, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.