V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining (original) (raw)

References

• Ahnesorg P, Jackson SP . (2007). The non-homologous end-joining protein Nej1p is a target of the DNA damage checkpoint. DNA Repair (Amst) 6: 190–201.
  CAS Google Scholar
• Ahnesorg P, Smith P, Jackson SP . (2006). XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell 124: 301–313.
  CAS Google Scholar
• Aravind L . (1999). An evolutionary classification of the metallo-beta-lactamase fold proteins. In Silico Biol 1: 69–91.
  CAS Google Scholar
• Audebert M, Salles B, Calsou P . (2004). Involvement of poly(ADP-ribose) polymerase-1 and XRCC1/DNA ligase III in an alternative route for DNA double-strand breaks rejoining. J Biol Chem 279: 55117–55126.
  CAS Google Scholar
• Bassing CH, Alt FW . (2004). H2AX may function as an anchor to hold broken chromosomal DNA ends in close proximity. Cell Cycle 3: 149–153.
  Article CAS Google Scholar
• Ben-Omran TI, Cerosaletti K, Concannon P, Weitzman S, Nezarati MM . (2005). A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome. Am J Med Genet A 137: 283–287.
  Google Scholar
• Biedermann KA, Sum JR, Giaccia AJ, Tosto LM, Brown JM . (1991). Scid mutation in mice confers hypersensitivity to ionizing radiation and a deficiency in DNA double-strand break repair. Proc Natl Acad Sci USA 88: 1394–1397.
  CAS Google Scholar
• Bosma GC, Custer RP, Bosma MJ . (1983). A severe combined immunodeficiency mutation in the mouse. Nature 301: 527–530.
  CAS Google Scholar
• Bosma GC, Kim J, Urich T, Fath DM, Cotticelli MG, Ruetsch NR et al. (2002). DNA-dependent protein kinase activity is not required for immunoglobulin class switching. J Exp Med 196: 1483–1495.
  CAS Google Scholar
• Boulton SJ, Jackson SP . (1996). Saccharomyces cerevisiae Ku70 potentiates illegitimate DNA double-strand break repair and serves as a barrier to error-prone DNA repair pathways. EMBO J 15: 5093–5103.
  CAS Google Scholar
• Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O et al. (2006a). Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 124: 287–299.
  CAS Google Scholar
• Buck D, Moshous D, de Chasseval R, Ma Y, le Deist F, Cavazzana-Calvo M et al. (2006b). Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol 36: 224–235.
  CAS Google Scholar
• Callebaut I, Malivert L, Fischer A, Mornon JP, Revy P, de Villartay JP . (2006). Cernunnos interacts with the XRCC4 × DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1. J Biol Chem 281: 13857–13860.
  CAS Google Scholar
• Callebaut I, Moshous D, Mornon JP, De Villartay JP . (2002). Metallo-β-lactamase fold within nucleic acids processing enzymes: the β-CASP family. Nucl Acid Res 30: 3592–3601.
  CAS Google Scholar
• Casellas R, Nussenzweig A, Wuerffel R, Pelanda R, Reichlin A, Suh H et al. (1998). Ku80 is required for immunoglobulin isotype switching. EMBO J 17: 2404–2411.
  CAS Google Scholar
• Catalan N, Selz F, Imai K, Revy P, Fischer A, Durandy A . (2003). The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region. J Immunol 171: 2504–2509.
  CAS Google Scholar
• Cavazzana-Calvo M, Le Deist F, de Saint Basile G, Papadopoulo D, de Villartay JP, Fischer A . (1993). Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency. J Clin Invest 91: 1214–1218.
  CAS Google Scholar
• Cavero S, Chahwan C, Russell P . (2007). Xlf1 is required for DNA repair by nonhomologous end joining in Schizosaccharomyces pombe. Genetics 175: 963–967.
  CAS Google Scholar
• Chaudhuri J, Alt FW . (2004). Class-switch recombination: interplay of transcription, DNA deamination and DNA repair. Nat Rev Immunol 4: 541–552.
  CAS Google Scholar
• Chen L, Morio T, Minegishi Y, Nakada S, Nagasawa M, Komatsu K et al. (2005). Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage. Cancer Sci 96: 134–141.
  CAS Google Scholar
• Cook AJ, Oganesian L, Harumal P, Basten A, Brink R, Jolly CJ . (2003). Reduced switching in SCID B cells is associated with altered somatic mutation of recombined S regions. J Immunol 171: 6556–6564.
  CAS Google Scholar
• Corneo B, Wendland RL, Deriano L, Cui X, Klein I, SY W et al. (2007). Rag mutations reveal robust alternative end joining. Nature 449: 483–486.
  CAS Google Scholar
• Dai Y, Kysela B, Hanakahi LA, Manolis K, Riballo E, Stumm M et al. (2003). Nonhomologous end joining and V(D)J recombination require an additional factor. Proc Natl Acad Sci USA 100: 2462–2467.
  CAS Google Scholar
• Darroudi F, Wiegant W, Meijers M, Friedl AA, van der Burg M, Fomina J et al. (2007). Role of Artemis in DSB repair and guarding chromosomal stability following exposure to ionizing radiation at different stages of cell cycle. Mutat Res 615: 111–124.
  CAS Google Scholar
• Deckbar D, Birraux J, Krempler A, Tchouandong L, Beucher A, Walker S et al. (2007). Chromosome breakage after G2 checkpoint release. J Cell Biol 176: 749–755.
  CAS Google Scholar
• Decottignies A . (2007). Microhomology-mediated end joining in fission yeast is repressed by pku70 and relies on genes involved in homologous recombination. Genetics 176: 1403–1415.
  CAS Google Scholar
• Deshpande RA, Wilson TE . (2007). Modes of interaction among yeast Nej1, Lif1 and Dnl4 proteins and comparison to human XLF, XRCC4 and Lig4. DNA Repair 6: 1507–1516.
  CAS Google Scholar
• Drouet J, Frit P, Delteil C, de Villartay JP, Salles B, Calsou P . (2006). Interplay between Ku, Artemis, and the DNA-dependent protein kinase catalytic subunit at DNA ends. J Biol Chem 281: 27784–27793.
  CAS Google Scholar
• 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.
  CAS Google Scholar
• Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR et al. (2005). Omenn syndrome due to ARTEMIS mutations. Blood 105: 4179–4186.
  CAS Google Scholar
• Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E et al. (2006). A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol 176: 5060–5068.
  CAS Google Scholar
• Evans PM, Woodbine L, Riballo E, Gennery AR, Hubank M, Jeggo PA . (2006). Radiation-induced delayed cell death in a hypomorphic Artemis cell line. Hum Mol Genet 15: 1303–1311.
  CAS Google Scholar
• Fischer A . (2004). Human primary immunodeficiency diseases: a perspective. Nat Immunol 5: 23–30.
  CAS Google Scholar
• Franco S, Alt FW, Manis JP . (2006). Pathways that suppress programmed DNA breaks from progressing to chromosomal breaks and translocations. DNA Repair (Amst) 5: 1030–1041.
  CAS Google Scholar
• Frank KM, Sekiguchi JM, Seidl KJ, Swat W, Rathbun GA, Cheng HL et al. (1998). Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV. Nature 396: 173–177.
  CAS Google Scholar
• Frank-Vaillant M, Marcand S . (2001). NHEJ regulation by mating type is exercised through a novel protein, Lif2p, essential to the ligase IV pathway. Genes Dev 15: 3005–3012.
  CAS Google Scholar
• Fulop GM, Phillips RA . (1990). The scid mutation in mice causes a general defect in DNA repair. Nature 347: 479–482.
  CAS Google Scholar
• Gao Y, Sun Y, Frank KM, Dikkes P, Fujiwara Y, Seidl KJ et al. (1998). A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell 95: 891–902.
  CAS Google Scholar
• Geng L, Zhang X, Zheng S, Legerski RJ . (2007). Artemis links ATM to G2/M checkpoint recovery via regulation of Cdk1-cyclin B. Mol Cell Biol 27: 2625–2635.
  CAS Google Scholar
• Gennery AR, Hodges E, Williams AP, Harris S, Villa A, Angus B et al. (2005). Omenn's syndrome occurring in patients without mutations in recombination activating genes. Clin Immunol 116: 246–256.
  CAS Google Scholar
• Goodarzi AA, Yu Y, Riballo E, Douglas P, Walker SA, Ye R et al. (2006). DNA-PK autophosphorylation facilitates Artemis endonuclease activity. EMBO J 25: 3880–3889.
  CAS Google Scholar
• Grawunder U, Wilm M, Wu X, Kulesza P, Wilson TE, Mann M et al. (1997). Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature 388: 492–495.
  CAS Google Scholar
• Grawunder U, Zimmer D, Leiber MR . (1998). DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains. Curr Biol 8: 873–876.
  CAS Google Scholar
• Gu J, Lu H, Tsai AG, Schwarz K, Lieber MR . (2007). Single-stranded DNA ligation and XLF-stimulated incompatible DNA end ligation by the XRCC4-DNA ligase IV complex: influence of terminal DNA sequence. Nucleic Acids Res 35: 5755–5762.
  CAS Google Scholar
• Hendrickson EA, Qin XQ, Bump EA, Schatz DG, Oettinger M, Weaver DT . (1991). A link between double-strand break related repair and V(D)J recombination : the scid mutation. Proc Natl Acad Sci USA 88: 4061–4065.
  CAS Google Scholar
• Hentges P, Ahnesorg P, Pitcher RS, Bruce CK, Kysela B, Green AJ et al. (2006). Evolutionary and functional conservation of the DNA non-homologous end-joining protein, XLF/Cernunnos. J Biol Chem 281: 37517–37526.
  CAS Google Scholar
• Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N et al. (2003). Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. Nat Immunol 4: 1023–1028.
  CAS Google Scholar
• Inagaki K, Ma C, Storm TA, Kay MA, Nakai H . (2007). A role of DNA-PKcs and Artemis in opening viral DNA hairpin termini in various tissues in mice. J Virol 81: 11304–11321.
  CAS Google Scholar
• Ishikawa H, Nakagawa N, Kuramitsu S, Masui R . (2006). Crystal structure of TTHA0252 from Thermus thermophilus HB8, a RNA degradation protein of the metallo-beta-lactamase superfamily. J Biochem (Tokyo) 140: 535–542.
  CAS Google Scholar
• Jankovic M, Nussenzweig A, Nussenzweig MC . (2007). Antigen receptor diversification and chromosome translocations. Nat Immunol 8: 801–808.
  CAS Google Scholar
• Junop MS, Modesti M, Guarne A, Ghirlando R, Gellert M, Yang W . (2000). Crystal structure of the Xrcc4 DNA repair protein and implications for end joining. EMBO J 19: 5962–5970.
  CAS Google Scholar
• Kegel A, Sjostrand JO, Astrom SU . (2001). Nej1p, a cell type-specific regulator of nonhomologous end joining in yeast. Curr Biol 11: 1611–1617.
  CAS Google Scholar
• Kiefer K, Oshinsky J, Kim J, Nakajima PB, Bosma GC, Bosma MJ . (2007). The catalytic subunit of DNA-protein kinase (DNA-PKcs) is not required for Ig class-switch recombination. Proc Natl Acad Sci USA 104: 2843–2848.
  CAS Google Scholar
• Kracker S, Bergmann Y, Demuth I, Frappart PO, Hildebrand G, Christine R et al. (2005). Nibrin functions in Ig class-switch recombination. Proc Natl Acad Sci USA 102: 1584–1589.
  CAS Google Scholar
• Krempler A, Deckbar D, Jeggo PA, Lobrich M . (2007). An imperfect G2M checkpoint contributes to chromosome instability following irradiation of S and G2 phase cells. Cell Cycle 6: 1682–1686.
  CAS Google Scholar
• Lee GS, Neiditch MB, Salus SS, Roth DB . (2004). RAG proteins shepherd double-strand breaks to a specific pathway, suppressing error-prone repair, but RAG nicking initiates homologous recombination. Cell 117: 171–184.
  CAS Google Scholar
• Lenain C, Bauwens S, Amiard S, Brunori M, Giraud-Panis MJ, Gilson E . (2006). The Apollo 5′ exonuclease functions together with TRF2 to protect telomeres from DNA repair. Curr Biol 16: 1303–1310.
  CAS Google Scholar
• Li L, Drayna D, Hu D, Hayward A, Gahagan S, Pabst H et al. (1998). The gene for severe combined immunodeficiency disease in Athabascan-speaking native Americans is located on chromosome 10p. Am J Hum Genet 62: 136–144.
  CAS Google Scholar
• Li L, Salido E, Zhou Y, Bhattacharyya S, Yannone SM, Dunn E et al. (2005). Targeted disruption of the Artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation. J Immunol 174: 2420–2428.
  CAS Google Scholar
• Lieber MR, Hesse JE, Lewis S, Bosma GC, Rosenberg N, Mizuuchi K et al. (1988). The defect in murine severe combined immune deficiency: joining of signal sequences but not coding segments in V(D)J recombination. Cell 55: 7–16.
  CAS Google Scholar
• Lu H, Pannicke U, Schwarz K, Lieber MR . (2007). Length-dependent binding of human XLF to DNA and stimulation of XRCC4·DNA ligase IV activity. J Biol Chem 282: 11155–11162.
  CAS Google Scholar
• Lumsden JM, McCarty T, Petiniot LK, Shen R, Barlow C, Wynn TA et al. (2004). Immunoglobulin class switch recombination is impaired in Atm-deficient mice. J Exp Med 200: 1111–1121.
  CAS Google Scholar
• Ma Y, Pannicke U, Lu H, Niewolik D, Schwarz K, Lieber MR . (2005). The DNA-dependent protein kinase catalytic subunit phosphorylation sites in human Artemis. J Biol Chem 280: 33839–33846.
  CAS Google Scholar
• Ma Y, Pannicke U, Schwarz K, Lieber MR . (2002). Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell 108: 781–794.
  CAS Google Scholar
• Mandel CR, Kaneko S, Zhang H, Gebauer D, Vethantham V, Manley JL et al. (2006). Polyadenylation factor CPSF-73 is the pre-mRNA 3′-end-processing endonuclease. Nature 444: 953–956.
  CAS Google Scholar
• Manis JP, Dudley D, Kaylor L, Alt FW . (2002a). IgH class switch recombination to IgG1 in DNA-PKcs-deficient B cells. Immunity 16: 607–617.
  CAS Google Scholar
• Manis JP, Gu Y, Lansford R, Sonoda E, Ferrini R, Davidson L et al. (1998). Ku70 is required for late B cell development and immunoglobulin heavy chain class switching. J Exp Med 187: 2081–2089.
  CAS Google Scholar
• Manis JP, Morales JC, Xia Z, Kutok JL, Alt FW, Carpenter PB . (2004). 53BP1 links DNA damage-response pathways to immunoglobulin heavy chain class-switch recombination. Nat Immunol 5: 481–487.
  CAS Google Scholar
• Manis JP, Tian M, Alt FW . (2002b). Mechanism and control of class-switch recombination. Trends Immunol 23: 31–39.
  CAS Google Scholar
• Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F et al. (2001a). ARTEMIS, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177–186.
  CAS Google Scholar
• Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F et al. (2001b). Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177–186.
  CAS Google Scholar
• Moshous D, Li L, de Chasseval R, Philippe N, Jabado N, Cowan MJ et al. (2000). A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p. Hum Mol Genet 9: 583–588.
  CAS Google Scholar
• Moshous D, Pannetier C, Chasseval Rd R, Deist Fl F, Cavazzana-Calvo M, Romana S et al. (2003). Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J Clin Invest 111: 381–387.
  CAS Google Scholar
• Muramatsu M, Kinoshita K, Fagarasan S, Yamada S, Shinkai Y, Honjo T . (2000). Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme. Cell 102: 553–563.
  CAS Google Scholar
• Nicolas N, Finnie NJ, Cavazzana-Calvo M, Papadopoulo D, Le Deist F, Fischer A et al. (1996). Lack of detectable defect in DNA double-strand break repair and DNA-dependant protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts. Eur J Immunol 26: 1118–1122.
  CAS Google Scholar
• Nicolas N, Moshous D, Papadopoulo D, Cavazzana-Calvo M, de Chasseval R, le Deist F et al. (1998). A human SCID condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiency. J Exp Med 188: 627–634.
  CAS Google Scholar
• Niewolik D, Pannicke U, Lu H, Ma Y, Wang LC, Kulesza P et al. (2006). DNA-PKcs dependence of Artemis endonucleolytic activity, differences between hairpins and 5′ or 3′ overhangs. J Biol Chem 281: 33900–33909.
  CAS Google Scholar
• O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B et al. (2001). DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell 8: 1175–1185.
  CAS Google Scholar
• Oettinger MA, Schatz DG, Gorka C, Baltimore D . (1990). RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination. Science 248: 1517–1523.
  CAS Google Scholar
• Ooi SL, Shoemaker DD, Boeke JD . (2001). A DNA microarray-based genetic screen for nonhomologous end-joining mutants in Saccharomyces cerevisiae. Science 294: 2552–2556.
  CAS Google Scholar
• Pan-Hammarstrom Q, Jones AM, Lahdesmaki A, Zhou W, Gatti RA, Hammarstrom L et al. (2005). Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells. J Exp Med 201: 189–194.
  Google Scholar
• Pannicke U, Ma Y, Hopfner KP, Niewolik D, Lieber MR, Schwarz K . (2004). Functional and biochemical dissection of the structure-specific nuclease ARTEMIS. EMBO J 23: 1987–1997.
  CAS Google Scholar
• Papavasiliou FN, Schatz DG . (2002). Somatic hypermutation of immunoglobulin genes: merging mechanisms for genetic diversity. Cell 109(Suppl): S35–S44.
  CAS Google Scholar
• Pergola F, Zdzienicka MZ, Lieber MR . (1993). V(D)J recombination in mammalian cell mutants defective in DNA double-strand break repair. Mol Cell Biol 13: 3464–3471.
  CAS Google Scholar
• Peron S, Pan-Hammarstrom Q, Imai K, Du L, Taubenheim N, Sanal O et al. (2007). A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair. J Exp Med 204: 1207–1216.
  CAS Google Scholar
• Petersen S, Casellas R, Reina-San-Martin B, Chen HT, Difilippantonio MJ, Wilson PC et al. (2001). AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching. Nature 414: 660–665.
  CAS Google Scholar
• Poinsignon C, de Chasseval R, Soubeyrand S, Moshous D, Fischer A, Hache RJ et al. (2004a). Phosphorylation of Artemis following irradiation-induced DNA damage. Eur J Immunol 34: 3146–3155.
  CAS Google Scholar
• Poinsignon C, Moshous D, Callebaut I, de Chasseval R, Villey I, de Villartay JP . (2004b). The metallo-β-lactamase/β-CASP domain of Artemis constitutes the catalytic core required for V(D)J recombination. J Exp Med 199: 315–321.
  CAS Google Scholar
• Povirk LF, Zhou T, Zhou R, Cowan MJ, Yannone SM . (2007). Processing of 3′-phosphoglycolate-terminated DNA double strand breaks by Artemis nuclease. J Biol Chem 282: 3547–3558.
  CAS Google Scholar
• Rada C, Williams GT, Nilsen H, Barnes DE, Lindahl T, Neuberger MS . (2002). Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient mice. Curr Biol 12: 1748–1755.
  CAS Google Scholar
• Reina-San-Martin B, Chen HT, Nussenzweig A, Nussenzweig MC . (2004). ATM is required for efficient recombination between immunoglobulin switch regions. J Exp Med 200: 1103–1110.
  CAS Google Scholar
• Reina-San-Martin B, Difilippantonio S, Hanitsch L, Masilamani RF, Nussenzweig A, Nussenzweig MC . (2003). H2AX is required for recombination between immunoglobulin switch regions but not for intra-switch region recombination or somatic hypermutation. J Exp Med 197: 1767–1778.
  CAS Google Scholar
• Reina-San-Martin B, Nussenzweig MC, Nussenzweig A, Difilippantonio S . (2005). Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1. Proc Natl Acad Sci USA 102: 1590–1595.
  CAS Google Scholar
• Revy P, Buck D, le Deist F, de Villartay JP . (2005). The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models. Adv Immunol 87: 237–295.
  CAS Google Scholar
• Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O et al. (2000). Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2). Cell 102: 565–575.
  CAS Google Scholar
• Riballo E, Kuhne M, Rief N, Doherty A, Smith GC, Recio MJ et al. (2004). A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci. Mol Cell 16: 715–724.
  CAS 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: 5858–5868.
  CAS Google Scholar
• Rooney S, Alt FW, Sekiguchi J, Manis JP . (2005). Artemis-independent functions of DNA-dependent protein kinase in Ig heavy chain class switch recombination and development. Proc Natl Acad Sci USA 102: 2471–2475.
  CAS Google Scholar
• Rooney S, Sekiguchi J, Zhu C, Cheng HL, Manis J, Whitlow S et al. (2002). Leaky Scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice. Mol Cell 10: 1379–1390.
  CAS Google Scholar
• Roth DB . (2003). Restraining the V(D)J recombinase. Nat Rev Immunol 3: 656–666.
  CAS Google Scholar
• Roth DB, Menetski JP, Nakajima PB, Bosma MJ, Gellert M . (1992). V(D)J recombination: broken DNA molecules with covalently sealed (hairpin) coding ends in scid mouse thymocytes. Cell 70: 983–991.
  CAS Google Scholar
• Roth DB, Porter TN, Wilson JH . (1985). Mechanisms of nonhomologous recombination in mammalian cells. Mol Cell Biol 5: 2599–2607.
  CAS Google Scholar
• Rush JS, Fugmann SD, Schatz DG . (2004). Staggered AID-dependent DNA double strand breaks are the predominant DNA lesions targeted to S mu in Ig class switch recombination. Int Immunol 16: 549–557.
  CAS Google Scholar
• Sancar A, Lindsey-Boltz LA, Unsal-Kacmaz K, Linn S . (2004). Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. Annu Rev Biochem 73: 39–85.
  CAS Google Scholar
• Schar P, Herrmann G, Daly G, Lindahl T . (1997). A newly identified DNA ligase of Saccharomyces cerevisiae involved in RAD52-independent repair of DNA double-strand breaks. Genes Dev 11: 1912–1924.
  CAS Google Scholar
• Schatz DG, Oettinger MA, Baltimore D . (1989). The V(D)J recombination activating gene, RAG-1. Cell 59: 1035–1048.
  CAS Google Scholar
• Sibanda BL, Critchlow SE, Begun J, Pei XY, Jackson SP, Blundell TL et al. (2001). Crystal structure of an Xrcc4-DNA ligase IV complex. Nat Struct Biol 8: 1015–1019.
  CAS Google Scholar
• Sonoda E, Hochegger H, Saberi A, Taniguchi Y, Takeda S . (2006). Differential usage of non-homologous end-joining and homologous recombination in double strand break repair. DNA Repair (Amst) 5: 1021–1029.
  CAS Google Scholar
• Soubeyrand S, Pope L, De Chasseval R, Gosselin D, Dong F, de Villartay JP et al. (2006). Artemis phosphorylated by DNA-dependent protein kinase associates preferentially with discrete regions of chromatin. J Mol Biol 358: 1200–1211.
  CAS Google Scholar
• Soulas-Sprauel P, Le Guyader G, Rivera-Munoz P, Abramowski V, Olivier-Martin C, Goujet-Zalc C et al. (2007). Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination. J Exp Med 204: 1717–1727.
  CAS Google Scholar
• Taccioli GE, Rathbun G, Oltz E, Stamato T, Jeggo PA, Alt FW . (1993). Impairment of V(D)J recombination in double-strand break repair mutants. Science 260: 207–210.
  CAS Google Scholar
• Teo SH, Jackson SP . (1997). Identification of Saccharomyces cerevisiae DNA ligase IV: involvement in DNA double-strand break repair. EMBO J 16: 4788–4795.
  CAS Google Scholar
• Teo SH, Jackson SP . (2000). Lif1p targets the DNA ligase Lig4p to sites of DNA double-strand breaks. Curr Biol 10: 165–168.
  CAS Google Scholar
• Tonegawa S . (1983). Somatic generation of antibody diversity. Nature 302: 575–581.
  CAS Google Scholar
• Tsai CJ, Kim SA, Chu G . (2007). Cernunnos/XLF promotes the ligation of mismatched and noncohesive DNA ends. Proc Natl Acad Sci USA 104: 7851–7856.
  CAS Google Scholar
• Valencia M, Bentele M, Vaze MB, Herrmann G, Kraus E, Lee SE et al. (2001). NEJ1 controls non-homologous end joining in Saccharomyces cerevisiae. Nature 414: 666–669.
  CAS Google Scholar
• van der Burg M, van Veelen LR, Verkaik NS, Wiegant WW, Hartwig NG, Barendregt BH et al. (2006). A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest 116: 137–145.
  CAS Google Scholar
• van Overbeek M, de Lange T . (2006). Apollo, an Artemis-related nuclease, interacts with TRF2 and protects human telomeres in S phase. Curr Biol 16: 1295–1302.
  CAS Google Scholar
• Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG et al. (2001). V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 97: 81–88.
  CAS Google Scholar
• Wang H, Rosidi B, Perrault R, Wang M, Zhang L, Windhofer F et al. (2005a). DNA ligase III as a candidate component of backup pathways of nonhomologous end joining. Cancer Res 65: 4020–4030.
  CAS Google Scholar
• Wang J, Pluth JM, Cooper PK, Cowan MJ, Chen DJ, Yannone SM . (2005b). Artemis deficiency confers a DNA double-strand break repair defect and Artemis phosphorylation status is altered by DNA damage and cell cycle progression. DNA Repair (Amst) 4: 556–570.
  CAS Google Scholar
• Wang M, Wu W, Rosidi B, Zhang L, Wang H, Iliakis G . (2006). PARP-1 and Ku compete for repair of DNA double strand breaks by distinct NHEJ pathways. Nucleic Acids Res 34: 6170–6182.
  CAS Google Scholar
• Ward IM, Reina-San-Martin B, Olaru A, Minn K, Tamada K, Lau JS et al. (2004). 53BP1 is required for class switch recombination. J Cell Biol 165: 459–464.
  CAS Google Scholar
• Weterings E, van Gent DC . (2004). The mechanism of non-homologous end-joining: a synopsis of synapsis. DNA Repair (Amst) 3: 1425–1435.
  CAS Google Scholar
• Wilson TE, Grawunder U, Lieber MR . (1997). Yeast DNA ligase IV mediates non-homologous DNA end joining. Nature 388: 495–498.
  CAS Google Scholar
• Wu PY, Frit P, Malivert L, Revy P, Biard D, Salles B et al. (2007). Interplay between Cernunnos/XLF and NHEJ proteins at DNA ends in the cell. J biol Chem; e-pub ahead of print: 24 August 2007.
• Wuerffel RA, Du J, Thompson RJ, Kenter AL . (1997). Ig Sgamma3 DNA-specific double strand breaks are induced in mitogen-activated B cells and are implicated in switch recombination. J Immunol 159: 4139–4144.
  CAS Google Scholar
• Wyman C, Kanaar R . (2006). DNA double-strand break repair: all's well that ends well. Annu Rev Genet 40: 363–383.
  CAS Google Scholar
• Yan CT, Boboila C, Souza EK, Franco S, Hickernell TR, Murphy M et al. (2007). IgH class switching and translocations use a robust non-classical end-joining pathway. Nature 449: 478–483.
  CAS Google Scholar
• Zha S, Alt FW, Cheng HL, Brush JW, Li G . (2007). Defective DNA repair and increased genomic instability in Cernunnos-XLF-deficient murine ES cells. Proc Natl Acad Sci USA 104: 4518–4523.
  CAS Google Scholar
• Zhang X, Succi J, Feng Z, Prithivirajsingh S, Story MD, Legerski RJ . (2004). Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response. Mol Cell Biol 24: 9207–9220.
  CAS Google Scholar

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