Recognition of DNA double strand breaks by the BRCA1 tumor suppressor network (original) (raw)
References
Bassing CH, Chua KF, Sekiguchi J, Suh H, Whitlow SR, Fleming JC, Monroe BC, Ciccone DN, Yan C, Vlasakova K, Livingston DM, Ferguson DO, Scully R, Alt FW (2002) Increased ionizing radiation sensitivity and genomic instability in the absence of histone H2AX. Proc Natl Acad Sci U S A 99(12):8173–8178 PubMedCAS Google Scholar
Bekker-Jensen S, Lukas C, Kitagawa R, Melander F, Kastan MB, Bartek J, Lukas J (2006) Spatial organization of the mammalian genome surveillance machinery in response to DNA strand breaks. J Cell Biol 173(2):195–206 PubMedCAS Google Scholar
Berkovich E, Monnat RJ Jr, Kastan MB (2007) Roles of ATM and NBS1 in chromatin structure modulation and DNA double-strand break repair. Nat Cell Biol 9(6):683–690 PubMedCAS Google Scholar
Bradshaw PS, Stavropoulos DJ, Meyn MS (2005) Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage. Nat Genet 37(2):193–197 PubMedCAS Google Scholar
Brzovic PS, Meza JE, King MC, Klevit RE (2001a) BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein–protein interactions. J Biol Chem 276(44):41399–41406 CAS Google Scholar
Brzovic PS, Rajagopal P, Hoyt DW, King MC, Klevit RE (2001b) Structure of a BRCA1–BARD1 heterodimeric RING-RING complex. Nat Struct Biol 8(10):833–837 PubMedCAS Google Scholar
Cantor SB, Bell DW, Ganesan S, Kass EM, Drapkin R, Grossman S, Wahrer DCR, Sgroi DC, Lane WS, Haber DA, Livingston DM (2001) BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105:149–160 PubMedCAS Google Scholar
Celeste A, Petersen S, Romanienko PJ, Fernandez-Capetillo O, Chen HT, Sedelnikova OA, Reina-San-Martin B, Coppola V, Meffre E, Difilippantonio MJ, Redon C, Pilch DR, Olaru A, Eckhaus M, Camerini-Otero RD, Tessarollo L, Livak F, Manova K, Bonner WM, Nussenzweig MC, Nussenzweig A (2002) Genomic instability in mice lacking histone H2AX. Science (New York, NY) 296(5569):922–927 CAS Google Scholar
Celeste A, Fernandez-Capetillo O, Kruhlak MJ, Pilch DR, Staudt DW, Lee A, Bonner RF, Bonner WM, Nussenzweig A (2003) Histone H2AX phosphorylation is dispensable for the initial recognition of DNA breaks. Nat Cell Biol 5(7):675–679 PubMedCAS Google Scholar
Chen JJ, Silver D, Walpita D, Cantor SB, Gazdar AF, Tomlinson G, Couch FJ, Weber BL, Ashley T, Livingston DM, Scully R (1998) Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Mol Cell 2(3):317–328 PubMedCAS Google Scholar
Chen L, Nievera C, Lee AY, Wu X (2008) Cell cycle-dependent complex formation of BRCA1/CtIP/MRN is important for DNA double-strand break repair. J Biol Chem 283(12):7713–7720 PubMedCAS Google Scholar
Consortium (1999) Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 91(15):1310–1316 Google Scholar
Cortez D, Wang Y, Qin J, Elledge SJ (1999) Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science (New York, NY) 286(5442):1162–1166 (see comments) CAS Google Scholar
Cressman VL, Backlund DC, Avrutskaya AV, Leadon SA, Godfrey V, Koller BH (1999a) Growth retardation, DNA repair defects, and lack of spermatogenesis in BRCA1-deficient mice. Mol Cell Biol 19(10):7061–7075 PubMedCAS Google Scholar
Cressman VL, Backlund DC, Hicks EM, Gowen LC, Godfrey V, Koller BH (1999b) Mammary tumor formation in p53- and BRCA1-deficient mice. Cell Growth Differ 10(1):1–10 PubMedCAS Google Scholar
Elledge SJ, Amon A (2002) The BRCA1 suppressor hypothesis: an explanation for the tissue-specific tumor development in BRCA1 patients. Cancer Cell 1(2):129–132 PubMedCAS Google Scholar
Erkko H, Xia B, Nikkila J, Schleutker J, Syrjakoski K, Mannermaa A, Kallioniemi A, Pylkas K, Karppinen SM, Rapakko K, Miron A, Sheng Q, Li G, Mattila H, Bell DW, Haber DA, Grip M, Reiman M, Jukkola-Vuorinen A, Mustonen A, Kere J, Aaltonen LA, Kosma VM, Kataja V, Soini Y, Drapkin RI, Livingston DM, Winqvist R (2007) A recurrent mutation in PALB2 in Finnish cancer families. Nature 446(7133):316–319 PubMedCAS Google Scholar
Evers B, Jonkers J (2006) Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects. Oncogene 25(43):5885–5897 PubMedCAS Google Scholar
Falck J, Coates J, Jackson SP (2005) Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage. Nature 434(7033):605–611 PubMedCAS Google Scholar
Fernandez-Capetillo O, Chen HT, Celeste A, Ward I, Romanienko PJ, Morales JC, Naka K, Xia Z, Camerini-Otero RD, Motoyama N, Carpenter PB, Bonner WM, Chen J, Nussenzweig A (2002) DNA damage-induced G2-M checkpoint activation by histone H2AX and 53BP1. Nat Cell Biol 4(12):993–997 PubMedCAS Google Scholar
Frank-Vaillant M, Marcand S (2002) Transient stability of DNA ends allows nonhomologous end joining to precede homologous recombination. Mol Cell 10(5):1189–1199 PubMedCAS Google Scholar
Furuta T, Takemura H, Liao ZY, Aune GJ, Redon C, Sedelnikova OA, Pilch DR, Rogakou EP, Celeste A, Chen HT, Nussenzweig A, Aladjem MI, Bonner WM, Pommier Y (2003) Phosphorylation of histone H2AX and activation of Mre11, Rad50, and Nbs1 in response to replication-dependent DNA double-strand breaks induced by mammalian DNA topoisomerase I cleavage complexes. J Biol Chem 278(22):20303–20312 PubMedCAS Google Scholar
Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, Bennett LM, Haugen-Strano A, Swensen J, Miki Y et al (1994) BRCA1 mutations in primary breast and ovarian carcinomas. Science (New York, NY) 266(5182):120–122 CAS Google Scholar
Goggins M, Schutte M, Lu J, Moskaluk CA, Weinstein CL, Petersen GM, Yeo CJ, Jackson CE, Lynch HT, Hruban RH, Kern SE (1996) Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res 56(23):5360–5364 PubMedCAS Google Scholar
Goldberg M, Stucki M, Falck J, D’Amours D, Rahman D, Pappin D, Bartek J, Jackson SP (2003) MDC1 is required for the intra-S-phase DNA damage checkpoint. Nature 421(6926):952–956 PubMedCAS Google Scholar
Gowen LC, Johnson BL, Latour AM, Sulik KK, Koller BH (1996) Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nat Gen 12(2):191–194 CAS Google Scholar
Greenberg RA, Sobhian B, Pathania S, Cantor SB, Nakatani Y, Livingston DM (2006) Multifactorial contributions to an acute DNA damage response by BRCA1/BARD1-containing complexes. Genes Dev 20(1):34–46 PubMedCAS Google Scholar
Guirouilh-Barbat J, Huck S, Bertrand P, Pirzio L, Desmaze C, Sabatier L, Lopez BS (2004) Impact of the KU80 pathway on NHEJ-induced genome rearrangements in mammalian cells. Mol Cell 14(5):611–623 PubMedCAS Google Scholar
Hakem R, de la Pompa JL, Sirard C, Mo R, Woo M, Hakem A, Wakeham A, Potter J, Reitmair A, Billia F, Firpo E, Hui CC, Roberts J, Rossant J, Mak TW (1996) The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell 85(7):1009–1023 PubMedCAS Google Scholar
Harper JW, Schulman BA (2006) Structural complexity in ubiquitin recognition. Cell 124(6):1133–1136 PubMedCAS Google Scholar
Hoege C, Pfander B, Moldovan GL, Pyrowolakis G, Jentsch S (2002) RAD6-dependent DNA repair is linked to modification of PCNA by ubiquitin and SUMO. Nature 419(6903):135–141 PubMedCAS Google Scholar
Huber LJ, Yang TW, Sarkisian CJ, Master SR, Deng CX, Chodosh LA (2001) Impaired DNA damage response in cells expressing an exon 11-deleted murine Brca1 variant that localizes to nuclear foci. Mol Cell Biol 21(12):4005–4015 PubMedCAS Google Scholar
Huen MS, Grant R, Manke I, Minn K, Yu X, Yaffe MB, Chen J (2007) RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly. Cell 131:901–914 PubMedCAS Google Scholar
Ira G, Malkova A, Liberi G, Foiani M, Haber JE (2003) Srs2 and Sgs1-Top3 suppress crossovers during double-strand break repair in yeast. Cell 115(4):401–411 PubMedCAS Google Scholar
Ira G, Pellicioli A, Balijja A, Wang X, Fiorani S, Carotenuto W, Liberi G, Bressan D, Wan L, Hollingsworth NM, Haber JE, Foiani M (2004) DNA end resection, homologous recombination and DNA damage checkpoint activation require CDK1. Nature 431(7011):1011–1017 PubMedCAS Google Scholar
Jasin M (2002) Homologous repair of DNA damage and tumorigenesis: the BRCA connection. Oncogene 21(58):8981–8993 PubMedCAS Google Scholar
Jazaeri AA, Yee CJ, Sotiriou C, Brantley KR, Boyd J, Liu ET (2002) Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers. J Natl Cancer Inst 94(13):990–1000 PubMedCAS Google Scholar
Joukov V, Chen J, Fox EA, Green JB, Livingston DM (2001) Functional communication between endogenous BRCA1 and its partner, BARD1, during Xenopus laevis development. Proc Natl Acad Sci U S A 98(21):12078–12083 PubMedCAS Google Scholar
Kang J, Bronson RT, Xu Y (2002) Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair. EMBO J 21(6):1447–1455 PubMedCAS Google Scholar
Karppinen SM, Erkko H, Reini K, Pospiech H, Heikkinen K, Rapakko K, Syvaoja JE, Winqvist R (2006) Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer. Eur J Cancer 42(15):2647–2652 PubMedCAS Google Scholar
Kim H, Chen J, Yu X (2007a) Ubiquitin-binding protein RAP80 mediates BRCA1-dependent DNA damage response. Science 316(5828):1202–1205 PubMedCAS Google Scholar
Kim H, Huang J, Chen J (2007b) CCDC98 is a BRCA1-BRCT domain-binding protein involved in the DNA damage response. Nat Struct Mol Biol 14(8):710–715 PubMedCAS Google Scholar
King MC, Marks JH, Mandell JB (2003) Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 302(5645):643–646 PubMedCAS Google Scholar
Kitagawa R, Bakkenist CJ, McKinnon PJ, Kastan MB (2004) Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway. Genes Dev 18(12):1423–1438 PubMedCAS Google Scholar
Kolas NK, Chapman JR, Nakada S, Ylanko J, Chahwan R, Sweeney FD, Panier S, Mendez M, Wildenhain J, Thomson TM, Pelletier L, Jackson SP, Durocher D (2007) Orchestration of the DNA-damage response by the RNF8 ubiquitin ligase. Science 318:1637–1640 PubMedCAS Google Scholar
Kruhlak MJ, Celeste A, Dellaire G, Fernandez-Capetillo O, Muller WG, McNally JG, Bazett-Jones DP, Nussenzweig A (2006) Changes in chromatin structure and mobility in living cells at sites of DNA double-strand breaks. J Cell Biol 172(6):823–834 PubMedCAS Google Scholar
Lee JS, Collins KM, Brown AL, Lee CH, Chung JH (2000) hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response. Nature 404(6774):201–204 PubMedCAS Google Scholar
Lieber MR, Ma Y, Pannicke U, Schwarz K (2003) Mechanism and regulation of human non-homologous DNA end-joining. Nat Rev 4(9):712–720 CAS Google Scholar
Lisby M, Barlow JH, Burgess RC, Rothstein R (2004) Choreography of the DNA damage response: spatiotemporal relationships among checkpoint and repair proteins. Cell 118(6):699–713 PubMedCAS Google Scholar
Liu CY, Flesken-Nikitin A, Li S, Zeng Y, Lee WH (1996) Inactivation of the mouse Brca1 gene leads to failure in the morphogenesis of the egg cylinder in early postimplantation development. Genes Dev 10(14):1835–1843 PubMedCAS Google Scholar
Liu Z, Wu J, Yu X (2007) CCDC98 targets BRCA1 to DNA damage sites. Nat Struct Mol Biol 14(8):716–720 PubMedCAS Google Scholar
Longo JA, Nevaldine B, Longo SL, Winfield JA, Hahn PJ (1997) An assay for quantifying DNA double-strand break repair that is suitable for small numbers of unlabeled cells. Radiat Res 147(1):35–40 PubMedCAS Google Scholar
Lou Z, Minter-Dykhouse K, Franco S, Gostissa M, Rivera MA, Celeste A, Manis JP, van Deursen J, Nussenzweig A, Paull TT, Alt FW, Chen J (2006) MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals. Mol Cell 21(2):187–200 PubMedCAS Google Scholar
Ludwig T, Fisher P, Ganesan S, Efstratiadis A (2001) Tumorigenesis in mice carrying a truncating Brca1 mutation. Genes Dev 15(10):1188–1193 PubMedCAS Google Scholar
Lukas C, Falck J, Bartkova J, Bartek J, Lukas J (2003) Distinct spatiotemporal dynamics of mammalian checkpoint regulators induced by DNA damage. Nat Cell Biol 5(3):255–260 PubMedCAS Google Scholar
Lukas C, Melander F, Stucki M, Falck J, Bekker-Jensen S, Goldberg M, Lerenthal Y, Jackson SP, Bartek J, Lukas J (2004) Mdc1 couples DNA double-strand break recognition by Nbs1 with its H2AX-dependent chromatin retention. EMBO J 23(13):2674–2683 PubMedCAS Google Scholar
Luo G, Yao MS, Bender CF, Mills M, Bladl AR, Bradley A, Petrini JH (1999) Disruption of mRad50 causes embryonic stem cell lethality, abnormal embryonic development, and sensitivity to ionizing radiation. Proc Nat Acad Sci U S A 96(13):7376–7381 CAS Google Scholar
Mailand N, Bekker-Jensen S, Faustrup H, Melander F, Bartek J, Lukas C, Lukas J (2007) RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins. Cell 131(5):887–900 PubMedCAS Google Scholar
Manke IA, Lowery DM, Nguyen A, Yaffe MB (2003) BRCT repeats as phosphopeptide-binding modules involved in protein targeting. Science 302(5645):636–639 PubMedCAS Google Scholar
Martin RW, Orelli BJ, Yamazoe M, Minn AJ, Takeda S, Bishop DK (2007) RAD51 up-regulation bypasses BRCA1 function and is a common feature of BRCA1-deficient breast tumors. Cancer Res 67(20):9658–9665 PubMedCAS Google Scholar
Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER III, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ (2007) ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 316(5828):1160–1166 PubMedCAS Google Scholar
McCarthy EE, Celebi JT, Baer R, Ludwig T (2003) Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability. Mol Cell Biol 23(14):5056–5063 PubMedCAS Google Scholar
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266(5182):66–71 PubMedCAS Google Scholar
Morris JR, Solomon E (2004) BRCA1: BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair. Hum Mol Genet 13(8):807–817 PubMedCAS Google Scholar
Moynahan ME, Chiu JW, Koller BH, Jasin M (1999) Brca1 controls homology-directed DNA repair. Mol Cell 4(4):511–518 PubMedCAS Google Scholar
Moynahan ME, Pierce AJ, Jasin M (2001) BRCA2 is required for homology-directed repair of chromosomal breaks. Mol Cell 7(2):263–272 PubMedCAS Google Scholar
Myung K, Chen C, Kolodner RD (2001) Multiple pathways cooperate in the suppression of genome instability in Saccharomyces cerevisiae. Nature 411(6841):1073–1076 PubMedCAS Google Scholar
Nathanson KL, Wooster R, Weber BL (2001) Breast cancer genetics: what we know and what we need. Nat Med 7(5):552–556 PubMedCAS Google Scholar
Nevaldine B, Longo JA, Hahn PJ (1997) The scid defect results in much slower repair of DNA double-strand breaks but not high levels of residual breaks. Radiat Res 147(5):535–540 PubMedCAS Google Scholar
Osborn AJ, Elledge SJ, Zou L (2002) Checking on the fork: the DNA-replication stress-response pathway. Trends Cell Biol 12(11):509–516 PubMedCAS Google Scholar
Peng J, Schwartz D, Elias JE, Thoreen CC, Cheng D, Marsischky G, Roelofs J, Finley D, Gygi SP (2003) A proteomics approach to understanding protein ubiquitination. Nat Biotechnol 21(8):921–926 PubMedCAS Google Scholar
Peng M, Litman R, Xie J, Sharma S, Brosh RM Jr, Cantor SB (2007) The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells. EMBO J 26(13):3238–3249 PubMedCAS Google Scholar
Pickart CM, Fushman D (2004) Polyubiquitin chains: polymeric protein signals. Curr Opin Chem Biol 8(6):610–616 PubMedCAS Google Scholar
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(24):3237–3242 PubMedCAS Google Scholar
Polanowska J, Martin JS, Garcia-Muse T, Pcorin MI, Boulton SJ (2006) A conserved pathway to activate BRCA1-dependent ubiquitylation at DNA damage sites. EMBO J 25(10):2178–2188 PubMedCAS Google Scholar
Potts PR, Porteus MH, Yu H (2006) Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks. EMBO J 25(14):3377–3388 PubMedCAS Google Scholar
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39(2):165–167 PubMedCAS Google Scholar
Rebbeck TR, Levin AM, Eisen A, Snyder C, Watson P, Cannon-Albright L, Isaacs C, Olopade O, Garber JE, Godwin AK, Daly MB, Narod SA, Neuhausen SL, Lynch HT, Weber BL (1999) Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst 91(17):1475–1479 PubMedCAS Google Scholar
Rebbeck TR, Lynch HT, Neuhausen SL, Narod SA, Van’t Veer L, Garber JE, Evans G, Isaacs C, Daly MB, Matloff E, Olopade OI, Weber BL (2002) Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 346(21):1616–1622 PubMed Google Scholar
Rodrigue A, Lafrance M, Gauthier MC, McDonald D, Hendzel M, West SC, Jasin M, Masson JY (2006) Interplay between human DNA repair proteins at a unique double-strand break in vivo. EMBO J 25(1):222–231 PubMedCAS Google Scholar
Rogakou EP, Pilch DR, Orr AH, Ivanova VS, Bonner WM (1998) DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139. J Biol Chem 273(10):5858–5868 PubMedCAS Google Scholar
Rogakou EP, Boon C, Redon C, Bonner WM (1999) Megabase chromatin domains involved in DNA double-strand breaks in vivo. J Cell Biol 146(5):905–916 PubMedCAS Google Scholar
Sartori AA, Lukas C, Coates J, Mistrik M, Fu S, Bartek J, Baer R, Lukas J, Jackson SP (2007) Human CtIP promotes DNA end resection. Nature 450(7169):509–514 PubMedCAS Google Scholar
Scully R, Livingston D (2000) In search of the tumour-suppressor functions of BRCA1 and BRCA2. Nature 408:429–432 PubMedCAS Google Scholar
Scully R, Chen J, Ochs RL, Keegan K, Hoekstra M, Feunteun J, Livingston DM (1997a) Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell 90(3):425–435 PubMedCAS Google Scholar
Scully R, Chen J, Plug A, Xiao Y, Weaver D, Feunteun J, Ashley T, Livingston DM (1997b) Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 88(2):265–275 PubMedCAS Google Scholar
Scully R, Ganesan S, Vlasakova K, Chen J, Socolovsky M, Livingston DM (1999) Genetic analysis of BRCA1 function in a defined tumor cell line. Mol Cell 4(6):1093–1099 PubMedCAS Google Scholar
Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D, Easton DF, Stratton MR, Rahman N (2006) Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet 38(11):1239–1241 PubMedCAS Google Scholar
Sharan SK, Morimatsu M, Albrecht U, Lim DS, Regel E, Dinh C, Sands A, Eichele G, Hasty P, Bradley A (1997) Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature 386(6627):804–810 PubMedCAS Google Scholar
Shroff R, Arbel-Eden A, Pilch D, Ira G, Bonner WM, Petrini JH, Haber JE, Lichten M (2004) Distribution and dynamics of chromatin modification induced by a defined DNA double-strand break. Curr Biol 14(19):1703–1711 PubMedCAS Google Scholar
Snouwaert JN, Gowen LC, Latour AM, Mohn AR, Xiao A, DiBiase L, Koller BH (1999) BRCA1 deficient embryonic stem cells display a decreased homologous recombination frequency and an increased frequency of non-homologous recombination that is corrected by expression of a brca1 transgene. Oncogene 18(55):7900–7907 PubMedCAS Google Scholar
Sobhian B, Shao G, Lilli DR, Culhane AC, Moreau LA, Xia B, Livingston DM, Greenberg RA (2007) RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites. Science 316(5828):1198–1202 PubMedCAS Google Scholar
Sorlie T, Tibshirani R, Parker J, Hastie T, Marron JS, Nobel A, Deng S, Johnsen H, Pesich R, Geisler S, Demeter J, Perou CM, Lonning PE, Brown PO, Borresen-Dale AL, Botstein D (2003) Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci U S A 100(14):8418–8423 PubMedCAS Google Scholar
Stelter P, Ulrich HD (2003) Control of spontaneous and damage-induced mutagenesis by SUMO and ubiquitin conjugation. Nature 425(6954):188–191 PubMedCAS Google Scholar
Stewart GS, Wang B, Bignell CR, Taylor AM, Elledge SJ (2003) MDC1 is a mediator of the mammalian DNA damage checkpoint. Nature 421(6926):961–966 PubMedCAS Google Scholar
Stiff T, O’Driscoll M, Rief N, Iwabuchi K, Lobrich M, Jeggo PA (2004) ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation. Cancer Res 64(7):2390–2396 PubMedCAS Google Scholar
Stucki M, Clapperton JA, Mohammad D, Yaffe MB, Smerdon SJ, Jackson SP (2005) MDC1 directly binds phosphorylated histone H2AX to regulate cellular responses to DNA double-strand breaks. Cell 123(7):1213–1226 PubMedCAS Google Scholar
Sung PA, Libura J, Richardson C (2006) Etoposide and illegitimate DNA double-strand break repair in the generation of MLL translocations: new insights and new questions. DNA Repair 5(9–10):1109–1118 PubMedCAS Google Scholar
Thai TH, Du F, Tsan JT, Jin Y, Phung A, Spillman MA, Massa HF, Muller CY, Ashfaq R, Mathis JM, Miller DS, Trask BJ, Baer R, Bowcock AM (1998) Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers. Hum Mol Genet 7(2):195–202 PubMedCAS Google Scholar
Tibbetts RS, Cortez D, Brumbaugh KM, Scully R, Livingston D, Elledge SJ, Abraham RT (2000) Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress. Genes Dev 14(23):2989–3002 PubMedCAS Google Scholar
Unal E, Arbel-Eden A, Sattler U, Shroff R, Lichten M, Haber JE, Koshland D (2004) DNA damage response pathway uses histone modification to assemble a double-strand break-specific cohesin domain. Mol Cell 16(6):991–1002 PubMed Google Scholar
van Heemst D, Brugmans L, Verkaik NS, van Gent DC (2004) End-joining of blunt DNA double-strand breaks in mammalian fibroblasts is precise and requires DNA-PK and XRCC4. DNA Repair 3(1):43–50 PubMed Google Scholar
Venkitaraman AR (2002) Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108(2):171–182 PubMedCAS Google Scholar
Walsh T, King MC (2007) Ten genes for inherited breast cancer. Cancer Cell 11(2):103–105 PubMedCAS Google Scholar
Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J (2000) BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev 14(8):927–939 PubMedCAS Google Scholar
Wang B, Matsuoka S, Ballif BA, Zhang D, Smogorzewska A, Gygi SP, Elledge SJ (2007) Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response. Science 316(5828):1194–1198 PubMedCAS Google Scholar
Ward IM, Chen J (2001) Histone H2AX is phosphorylated in an ATR-dependent manner in response to replicational stress. J Biol Chem 276(51):47759–47762 PubMedCAS Google Scholar
Weinstock DM, Jasin M (2006) Alternative pathways for the repair of RAG-induced DNA breaks. Mol Cell Biol 26(1):131–139 PubMedCAS Google Scholar
Weinstock DM, Richardson CA, Elliott B, Jasin M (2006) Modeling oncogenic translocations: distinct roles for double-strand break repair pathways in translocation formation in mammalian cells. DNA Repair 5(9–10):1065–1074 PubMedCAS Google Scholar
White MA, Nicolette C, Minden A, Polverino A, Van Aelst L, Karin M, Wigler MH (1995) Multiple Ras functions can contribute to mammalian cell transformation. Cell 80(4):533–541 PubMedCAS Google Scholar
Williams RS, Green R, Glover JN (2001) Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nat Struct Biol 8(10):838–842 PubMedCAS Google Scholar
Wong AK, Ormonde PA, Pero R, Chen Y, Lian L, Salada G, Berry S, Lawrence Q, Dayananth P, Ha P, Tavtigian SV, Teng DH, Bartel PL (1998) Characterization of a carboxy-terminal BRCA1 interacting protein. Oncogene 17(18):2279–2285 PubMedCAS Google Scholar
Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D et al (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12–13. Science 265(5181):2088–2090 PubMedCAS Google Scholar
Wu L, Hickson ID (2003) The Bloom’s syndrome helicase suppresses crossing over during homologous recombination. Nature 426(6968):870–874 PubMedCAS Google Scholar
Wu LC, Wang ZW, Tsan JT, Spillman MA, Phung A, Xu XL, Yang MC, Hwang LY, Bowcock AM, Baer R (1996) Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nat Genet 14(4):430–440 PubMedCAS Google Scholar
Xia Y, Pao GM, Chen HW, Verma IM, Hunter T (2003) Enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein. J Biol Chem 278(7):5255–5263 PubMedCAS Google Scholar
Xia B, Sheng Q, Nakanishi K, Ohashi A, Wu J, Christ N, Liu X, Jasin M, Couch FJ, Livingston DM (2006) Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 22(6):719–729 PubMedCAS Google Scholar
Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP (2007) Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 39(2):159–161 PubMedCAS Google Scholar
Xie A, Puget N, Shim I, Odate S, Jarzyna I, Bassing CH, Alt FW, Scully R (2004) Control of sister chromatid recombination by histone H2AX. Mol Cell 16(6):1017–1025 PubMedCAS Google Scholar
Xu X, Weaver Z, Linke SP, Li C, Gotay J, Wang XW, Harris CC, Ried T, Deng CX (1999) Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells. Mol Cell 3(3):389–395 PubMedCAS Google Scholar
Xu B, Kim S, Kastan MB (2001a) Involvement of Brca1 in S-phase and G(2)-phase checkpoints after ionizing irradiation. Mol Cell Biol 21(10):3445–3450 PubMedCAS Google Scholar
Xu X, Qiao W, Linke SP, Cao L, Li WM, Furth PA, Harris CC, Deng CX (2001b) Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesis. Nat Genet 28(3):266–271 PubMedCAS Google Scholar
Xu B, Kim ST, Lim DS, Kastan MB (2002) Two molecularly distinct G(2)/M checkpoints are induced by ionizing irradiation. Mol Cell Biol 22(4):1049–1059 PubMedCAS Google Scholar
Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP (2002) BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure. Science 297(5588):1837–1848 PubMedCAS Google Scholar
Yang H, Li Q, Fan J, Holloman WK, Pavletich NP (2005) The BRCA2 homologue Brh2 nucleates RAD51 filament formation at a dsDNA–ssDNA junction. Nature 433(7026):653–657 PubMedCAS Google Scholar
Yu X, Wu LC, Bowcock AM, Aronheim A, Baer R (1998) The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression. J Biol Chem 273(39):25388–25392 PubMedCAS Google Scholar
Yu X, Chini CC, He M, Mer G, Chen J (2003) The BRCT domain is a phospho-protein binding domain. Science 302(5645):639–642 PubMedCAS Google Scholar
Yu X, Fu S, Lai M, Baer R, Chen J (2006) BRCA1 ubiquitinates its phosphorylation-dependent binding partner CtIP. Genes Dev 20(13):1721–1726 PubMedCAS Google Scholar
Zhao GY, Sonoda E, Barber LJ, Oka H, Murakawa Y, Yamada K, Ikura T, Wang X, Kobayashi M, Yamamoto K, Boulton SJ, Takeda S (2007) A critical role for the ubiquitin-conjugating enzyme Ubc13 in initiating homologous recombination. Mol Cell 25(5):663–675 PubMedCAS Google Scholar
Zhuang J, Zhang J, Willers H, Wang H, Chung JH, van Gent DC, Hallahan DE, Powell SN, Xia F (2006) Checkpoint kinase 2-mediated phosphorylation of BRCA1 regulates the fidelity of nonhomologous end-joining. Cancer Res 66(3):1401–1408 PubMedCAS Google Scholar
Zou L, Elledge SJ (2003) Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes. Science 300(5625):1542–1548 PubMedCAS Google Scholar
Zou L, Liu D, Elledge SJ (2003) Replication protein A-mediated recruitment and activation of Rad17 complexes. Proc Natl Acad Sci U S A 100(24):13827–13832 PubMedCAS Google Scholar