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Abbreviations
- AID:
-
Activation-induced cytidine deaminase
- ALL:
-
Acute lymphoblastic leukemia
- AML:
-
Acute myeloid leukemia
- ART:
-
Artemis
- AT:
-
Ataxia telangiectasia
- ATM:
-
Ataxia telangiectasia mutated
- ATR:
-
ATM and Rad3 related
- B-ALL:
-
B-cell acute lymphoblastic leukemia
- BFB:
-
Breakage–fusion–bridge
- CHO:
-
Chinese hamster ovary
- CML:
-
Chronic myelogenous leukemia
- CSR:
-
Class switch recombination
- DNA–PKcs:
-
DNA-dependent protein kinase catalytic subunit
- DSB:
-
DNA double-strand break
- FA:
-
Fanconi anemia
- GC:
-
Gene conversion
- H2AX:
-
Histone H2A variant X
- HR:
-
Homologous recombination
- ICL:
-
Interstrand crosslinking
- Ig:
-
Immunoglobulin
- IgH:
-
Immunoglobulin heavy chain
- IR:
-
Ionizing radiation
- Lig4:
-
Ligase IV
- MDS:
-
Myelodysplastic syndrome
- MEF:
-
Mouse embryonic fibroblast
- MMC:
-
Mitomycin-C
- MRN:
-
Mre11-Rad50-Nbs1 complex
- NHEJ:
-
Nonhomologous end joining
- Ph:
-
Philadelphia
- Pre-T LBL:
-
Pre-T cell lymphoblastic leukemia
- RAG:
-
Recombination-activating gene
- RPA:
-
Replication protein A
- RS:
-
Recombination signal sequences
- RS-SCID:
-
Radiation-sensitive SCID
- SCE:
-
Sister chromatid exchange
- SCID:
-
Severe combined immunodeficiency
- SDSA:
-
Synthesis-dependent strand annealing
- SHM:
-
Somatic hypermutation
- SSA:
-
Single-strand annealing
- ssDNA:
-
Single-stranded DNA
- T-ALL:
-
T-cell acute lymphoblastic leukemia or lymphoma
- TCR:
-
T-cell receptor
- TOPOIII:
-
Topoisomerase III
- XLF:
-
XRCC4-like factor
References
Agarwal S, Tafel AA, Kanaar R (2006). DNA double-strand break repair and chromosome translocations. DNA Repair (Amst) 5: 1075–81.
Ahnesorg P, Smith P, Jackson SP (2006). XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell 124: 301–13.
Akamatsu Y, Monroe R, Dudley DD, Elkin SK, Gartner F, Talukder SR et al. (2003). Deletion of the RAG2 C terminus leads to impaired lymphoid development in mice. Proc Natl Acad Sci U S A 100: 1209–14.
Aplan PD (2006). Causes of oncogenic chromosomal translocation. Trends Genet 22: 46–55.
Araujo FD, Pierce AJ, Stark JM, Jasin M (2002). Variant XRCC3 implicated in cancer is functional in homology-directed repair of double-strand breaks. Oncogene 21: 4176–80.
Arlt MF, Durkin SG, Ragland RL, Glover TW (2006). Common fragile sites as targets for chromosome rearrangements. DNA Repair (Amst) 5: 1126–35.
Auranen A, Song H, Waterfall C, Dicioccio RA, Kuschel B, Kjaer SK et al. (2005). Polymorphisms in DNA repair genes and epithelial ovarian cancer risk. Int J Cancer 117: 611–8.
Bachrati CZ, Borts RH, Hickson ID (2006). Mobile D-loops are a preferred substrate for the Bloom's syndrome helicase. Nucleic Acids Res 34: 2269–79.
Bachrati CZ, Hickson ID (2003). RecQ helicases: suppressors of tumorigenesis and premature aging. Biochem J 374: 577–606.
Bannister LA, Schimenti JC (2004). Homologous recombinational repair proteins in mouse meiosis. Cytogenet Genome Res 107: 191–200.
Barnes DE, Stamp G, Rosewell I, Denzel A, Lindahl T (1998). Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice. Curr Biol 8: 1395–8.
Bassing CH, Swat W, Alt FW (2002). The mechanism and regulation of chromosomal V(D)J recombination. Cell 109 Suppl: S45–55.
Benson FE, Baumann P, West SC (1998). Synergistic actions of Rad51 and Rad52 in recombination and DNA repair. Nature 391: 401–4.
Blasco MA, Lee HW, Hande MP, Samper E, Lansdorp PM, DePinho RA et al. (1997). Telomere shortening and tumor formation by mouse cells lacking telomerase RNA. Cell 91: 25–34.
Bloomfield CD, Lawrence D, Byrd JC, Carroll A, Pettenati MJ, Tantravahi R et al. (1998). Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype. Cancer Res 58: 4173–9.
Bodnar AG, Ouellette M, Frolkis M, Holt SE, Chiu CP, Morin GB et al. (1998). Extension of life-span by introduction of telomerase into normal human cells. Science 279: 349–52.
Bosma MJ, Carroll AM (1991). The SCID mouse mutant: definition, characterization, and potential uses. Annu Rev Immunol 9: 323–50.
Braybrooke JP, Spink KG, Thacker J, Hickson ID (2000). The RAD51 family member, RAD51L3, is a DNA-stimulated ATPase that forms a complex with XRCC2. J Biol Chem 275: 29100–6.
Bredemeyer AL, Sharma GG, Huang CY, Helmink BA, Walker LM, Khor KC et al. (2006). ATM stabilizes DNA double-strand-break complexes during V(D)J recombination. Nature 442: 466–70.
Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O et al. (2006). Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell 124: 287–99.
Callebaut I, Malivert L, Fischer A, Mornon JP, Revy P, de Villartay JP (2006). Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1. J Biol Chem 281: 13857–60.
Callebaut I, Moshous D, Mornon JP, de Villartay JP (2002). Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family. Nucleic Acids Res 30: 3592–601.
Casper AM, Nghiem P, Arlt MF, Glover TW (2002). ATR regulates fragile site stability. Cell 111: 779–89.
Celli GB, Denchi EL, de Lange T (2006). Ku70 stimulates fusion of dysfunctional telomeres yet protects chromosome ends from homologous recombination. Nat Cell Biol 8: 885–90.
Chaudhuri J, Alt FW (2004). Class-switch recombination: interplay of transcription, DNA deamination and DNA repair. Nat Rev Immunol 4: 541–52.
Chaudhuri J, Khuong C, Alt FW (2004). Replication protein A interacts with AID to promote deamination of somatic hypermutation targets. Nature 430: 992–8.
Cheok CF, Bachrati CZ, Chan KL, Ralf C, Wu L, Hickson ID (2005). Roles of the Bloom's syndrome helicase in the maintenance of genome stability. Biochem Soc Trans 33: 1456–9.
Chin L, Artandi SE, Shen Q, Tam A, Lee SL, Gottlieb GJ et al. (1999). p53 deficiency rescues the adverse effects of telomere loss and cooperates with telomere dysfunction to accelerate carcinogenesis. Cell 97: 527–38.
Chissoe SL, Bodenteich A, Wang YF, Wang YP, Burian D, Clifton SW et al. (1995). Sequence and analysis of the human ABL gene, the BCR gene, and regions involved in the Philadelphia chromosomal translocation. Genomics 27: 67–82.
Cortez D, Guntuku S, Qin J, Elledge SJ (2001). ATR and ATRIP: partners in checkpoint signaling. Science 294: 1713–6.
Costanzo V, Shechter D, Lupardus PJ, Cimprich KA, Gottesman M, Gautier J (2003). An ATR- and Cdc7-dependent DNA damage checkpoint that inhibits initiation of DNA replication. Mol Cell 11: 203–13.
Couedel C, Mills KD, Barchi M, Shen L, Olshen A, Johnson RD et al. (2004). Collaboration of homologous recombination and nonhomologous end-joining factors for the survival and integrity of mice and cells. Genes Dev 18: 1293–304.
de Klein A, van Kessel AG, Grosveld G, Bartram CR, Hagemeijer A, Bootsma D et al. (1982). A cellular oncogene is translocated to the Philadelphia chromosome in chronic myelocytic leukaemia. Nature 300: 765–7.
Dokal I (2000). The genetics of Fanconi's anaemia. Baillieres Best Pract Res Clin Haematol 13: 407–25.
Druker BJ, Talpaz M, Resta DJ, Peng B, Buchdunger E, Ford JM et al. (2001). Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. N Engl J Med 344: 1031–7.
Dudas A, Chovanec M (2004). DNA double-strand break repair by homologous recombination. Mutat Res 566: 131–67.
Early P, Huang H, Davis M, Calame K, Hood L (1980). An immunoglobulin heavy chain variable region gene is generated from three segments of DNA: VH, D and JH. Cell 19: 981–92.
Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR et al. (2005). Omenn syndrome due to ARTEMIS mutations. Blood 105: 4179–86.
Elliott B, Jasin M (2002). Double-strand breaks and translocations in cancer. Cell Mol Life Sci 59: 373–85.
Farah JA, Cromie G, Steiner WW, Smith GR (2005). A novel recombination pathway initiated by the Mre11/Rad50/Nbs1 complex eliminates palindromes during meiosis in Schizosaccharomyces pombe. Genetics 169: 1261–74.
Ferguson DO, Alt FW (2001). DNA double strand break repair and chromosomal translocation: lessons from animal models. Oncogene 20: 5572–9.
Figueiredo JC, Knight JA, Briollais L, Andrulis IL, Ozcelik H (2004). Polymorphisms XRCC1-R399Q and XRCC3-T241M and the risk of breast cancer at the Ontario site of the Breast Cancer Family Registry. Cancer Epidemiol Biomarkers Prev 13: 583–91.
Franco S, Alt FW, Manis JP (2006). Pathways that suppress programmed DNA breaks from progressing to chromosomal breaks and translocations. DNA Repair (Amst) 5: 1030–41.
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: 173–7.
Frost BM, Forestier E, Gustafsson G, Nygren P, Hellebostad M, Jonsson OG et al. (2004). Translocation t(12;21) is related to in vitro cellular drug sensitivity to doxorubicin and etoposide in childhood acute lymphoblastic leukemia. Blood 104: 2452–7.
Fugmann SD, Lee AI, Shockett PE, Villey IJ, Schatz DG (2000). The RAG proteins and V(D)J recombination: complexes, ends, and transposition. Annu Rev Immunol 18: 495–527.
Gao Y, Chaudhuri J, Zhu C, Davidson L, Weaver DT, Alt FW (1998a). A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for KU in V(D)J recombination. Immunity 9: 367–76.
Gao Y, Sun Y, Frank KM, Dikkes P, Fujiwara Y, Seidl KJ et al. (1998b). A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell 95: 891–902.
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: 246–56.
Gottlich B, Reichenberger S, Feldmann E, Pfeiffer P (1998). Rejoining of DNA double-strand breaks in vitro by single-strand annealing. Eur J Biochem 258: 387–95.
Gu Y, Seidl KJ, Rathbun GA, Zhu C, Manis JP, van der Stoep N et al. (1997). Growth retardation and leaky SCID phenotype of Ku70-deficient mice. Immunity 7: 653–65.
Han J, Colditz GA, Samson LD, Hunter DJ (2004). Polymorphisms in DNA double-strand break repair genes and skin cancer risk. Cancer Res 64: 3009–13.
Hashimoto K, Nakagawa Y, Morikawa H, Niki M, Egashira Y, Hirata I et al. (2001). Co-overexpression of DEAD box protein rck/p54 and c-myc protein in human colorectal adenomas and the relevance of their expression in cultured cell lines. Carcinogenesis 22: 1965–70.
Helleday T, Lo J, van Gent DC, Engelward BP (2007). DNA double-strand break repair: From mechanistic understanding to cancer treatment. DNA Repair (Amst) 6: 923–35.
Heyer WD, Li X, Rolfsmeier M, Zhang XP (2006). Rad54: the Swiss Army knife of homologous recombination? Nucleic Acids Res 34: 4115–25.
Hickson ID (2003). RecQ helicases: caretakers of the genome. Nat Rev Cancer 3: 169–78.
Hikida M, Mori M, Takai T, Tomochika K, Hamatani K, Ohmori H (1996). Reexpression of RAG-1 and RAG-2 genes in activated mature mouse B cells. Science 274: 2092–4.
Hsu HL, Gilley D, Blackburn EH, Chen DJ (1999). Ku is associated with the telomere in mammals. Proc Natl Acad Sci U S A 96: 12454–8.
Hsu HL, Gilley D, Galande SA, Hande MP, Allen B, Kim SH et al. (2000). Ku acts in a unique way at the mammalian telomere to prevent end joining. Genes Dev 14: 2807–12.
Jager U, Bocskor S, Le T, Mitterbauer G, Bolz I, Chott A et al. (2000). Follicular lymphomas' BCL-2/IgH junctions contain templated nucleotide insertions: novel insights into the mechanism of t(14;18) translocation. Blood 95: 3520–9.
Jeffs AR, Benjes SM, Smith TL, Sowerby SJ, Morris CM (1998). The BCR gene recombines preferentially with Alu elements in complex BCR-ABL translocations of chronic myeloid leukaemia. Hum Mol Genet 7: 767–76.
Jeffs AR, Wells E, Morris CM (2001). Nonrandom distribution of interspersed repeat elements in the BCR and ABL1 genes and its relation to breakpoint cluster regions. Genes Chromosomes Cancer 32: 144–54.
Jung D, Alt FW (2004). Unraveling V(D)J recombination; insights into gene regulation. Cell 116: 299–311.
Karanjawala ZE, Adachi N, Irvine RA, Oh EK, Shibata D, Schwarz K et al. (2002). The embryonic lethality in DNA ligase IV-deficient mice is rescued by deletion of Ku: implications for unifying the heterogeneous phenotypes of NHEJ mutants. DNA Repair (Amst) 1: 1017–26.
Karran P (2000). DNA double strand break repair in mammalian cells. Curr Opin Genet Dev 10: 144–50.
Khakhar RR, Cobb JA, Bjergbaek L, Hickson ID, Gasser SM (2003). RecQ helicases: multiple roles in genome maintenance. Trends Cell Biol 13: 493–501.
Kobayashi J, Antoccia A, Tauchi H, Matsuura S, Komatsu K (2004). NBS1 and its functional role in the DNA damage response. DNA Repair (Amst) 3: 855–61.
Krishna S, Wagener BM, Liu HP, Lo YC, Sterk R, Petrini JH et al. (2007). Mre11 and Ku regulation of double-strand break repair by gene conversion and break-induced replication. DNA Repair (Amst) 6: 797–808.
Kuppers R, Dalla-Favera R (2001). Mechanisms of chromosomal translocations in B cell lymphomas. Oncogene 20: 5580–94.
Kurimasa A, Kumano S, Boubnov NV, Story MD, Tung CS, Peterson SR et al. (1999). Requirement for the kinase activity of human DNA-dependent protein kinase catalytic subunit in DNA strand break rejoining. Mol Cell Biol 19: 3877–84.
Kurumizaka H, Ikawa S, Nakada M, Eda K, Kagawa W, Takata M et al. (2001). Homologous-pairing activity of the human DNA-repair proteins Xrcc3.Rad51C. Proc Natl Acad Sci U S A 98: 5538–43.
Kurumizaka H, Ikawa S, Nakada M, Enomoto R, Kagawa W, Kinebuchi T et al. (2002). Homologous pairing and ring and filament structure formation activities of the human Xrcc2∗Rad51D complex. J Biol Chem 277: 14315–20.
Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM et al. (2002). Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum Mol Genet 11: 1399–407.
Landree MA, Wibbenmeyer JA, Roth DB (1999). Mutational analysis of RAG1 and RAG2 identifies three catalytic amino acids in RAG1 critical for both cleavage steps of V(D)J recombination. Genes Dev 13: 3059–69.
Lee J, Desiderio S (1999). Cyclin A/CDK2 regulates V(D)J recombination by coordinating RAG-2 accumulation and DNA repair. Immunity 11: 771–81.
Lim DS, Hasty P (1996). A mutation in mouse rad51 results in an early embryonic lethal that is suppressed by a mutation in p53. Mol Cell Biol 16: 7133–43.
Lio YC, Mazin AV, Kowalczykowski SC, Chen DJ (2003). Complex formation by the human Rad51B and Rad51C DNA repair proteins and their activities in vitro. J Biol Chem 278: 2469–78.
Liu N, Lamerdin JE, Tebbs RS, Schild D, Tucker JD, Shen MR et al. (1998). XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages. Mol Cell 1: 783–93.
Liu N, Schild D, Thelen MP, Thompson LH (2002). Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells. Nucleic Acids Res 30: 1009–15.
Liu Y, Masson JY, Shah R, O'Regan P, West SC (2004). RAD51C is required for Holliday junction processing in mammalian cells. Science 303: 243–6.
Liu Y, Tarsounas M, O'Regan P, West SC (2007). Role of RAD51C and XRCC3 in genetic recombination and DNA repair. J Biol Chem 282: 1973–9.
Longerich S, Basu U, Alt F, Storb U (2006). AID in somatic hypermutation and class switch recombination. Curr Opin Immunol 18: 164–74.
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: 1111–21.
Masson JY, Stasiak AZ, Stasiak A, Benson FE, West SC (2001a). Complex formation by the human RAD51C and XRCC3 recombination repair proteins. Proc Natl Acad Sci U S A 98: 8440–6.
Masson JY, Tarsounas MC, Stasiak AZ, Stasiak A, Shah R, McIlwraith MJ et al. (2001b). Identification and purification of two distinct complexes containing the five RAD51 paralogs. Genes Dev 15: 3296–307.
Matei IR, Guidos CJ, Danska JS (2006). ATM-dependent DNA damage surveillance in T-cell development and leukemogenesis: the DSB connection. Immunol Rev 209: 142–58.
Mathew CG (2006). Fanconi anaemia genes and susceptibility to cancer. Oncogene 25: 5875–84.
Max EE, Seidman JG, Leder P (1979). Sequences of five potential recombination sites encoded close to an immunoglobulin kappa constant region gene. Proc Natl Acad Sci U S A 76: 3450–4.
McBlane JF, van Gent DC, Ramsden DA, Romeo C, Cuomo CA, Gellert M et al. (1995). Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell 83: 387–95.
McCormack WT, Tjoelker LW, Carlson LM, Petryniak B, Barth CF, Humphries EH et al. (1989). Chicken IgL gene rearrangement involves deletion of a circular episome and addition of single nonrandom nucleotides to both coding segments. Cell 56: 785–91.
McGowan CH, Russell P (2004). The DNA damage response: sensing and signaling. Curr Opin Cell Biol 16: 629–33.
Migliore L, Coppede F (2002). Genetic and environmental factors in cancer and neurodegenerative diseases. Mutat Res 512: 135–53.
Mills KD, Ferguson DO, Alt FW (2003). The role of DNA breaks in genomic instability and tumorigenesis. Immunol Rev 194: 77–95.
Mills KD, Ferguson DO, Essers J, Eckersdorff M, Kanaar R, Alt FW (2004). Rad54 and DNA Ligase IV cooperate to maintain mammalian chromatid stability. Genes Dev 18: 1283–92.
Mombaerts P, Iacomini J, Johnson RS, Herrup K, Tonegawa S, Papaioannou VE (1992). RAG-1-deficient mice have no mature B and T lymphocytes. Cell 68: 869–77.
Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F et al. (2001). Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177–86.
Moshous D, Callebaut I, de Chasseval R, Poinsignon C, Villey I, Fischer A et al. (2003a). The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system. Ann N Y Acad Sci 987: 150–7.
Moshous D, Pannetier C, Chasseval Rd R, Deist Fl F, Cavazzana-Calvo M, Romana S et al. (2003b). Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J Clin Invest 111: 381–7.
Murnane JP, Sabatier L (2004). Chromosome rearrangements resulting from telomere dysfunction and their role in cancer. Bioessays 26: 1164–74.
Nagel S, Kaufmann M, Drexler HG, MacLeod RA (2003). The cardiac homeobox gene NKX2-5 is deregulated by juxtaposition with BCL11B in pediatric T-ALL cell lines via a novel t(5;14)(q35.1;q32.2). Cancer Res 63: 5329–34.
New JH, Sugiyama T, Zaitseva E, Kowalczykowski SC (1998). Rad52 protein stimulates DNA strand exchange by Rad51 and replication protein A. Nature 391: 407–10.
Nicolas N, Moshous D, Cavazzana-Calvo M, Papadopoulo D, de Chasseval R, Le Deist F et al. (1998). A human severe combined immunodeficiency (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: 627–34.
Nussenzweig A, Chen C, da Costa Soares V, Sanchez M, Sokol K, Nussenzweig MC et al. (1996). Requirement for Ku80 in growth and immunoglobulin V(D)J recombination. Nature 382: 551–5.
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: 1175–85.
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: 1517–23.
Ouyang H, Nussenzweig A, Kurimasa A, Soares VC, Li X, Cordon-Cardo C et al. (1997). Ku70 is required for DNA repair but not for T cell antigen receptor gene recombination in vivo. J Exp Med 186: 921–9.
Padilla-Nash HM, Barenboim-Stapleton L, Difilippantonio MJ, Ried T (2006). Spectral karyotyping analysis of human and mouse chromosomes. Nat Protoc 1: 3129–42.
Pages V, Fuchs RP (2002). How DNA lesions are turned into mutations within cells? Oncogene 21: 8957–66.
Papadopoulos PC, Greenstein AM, Gaffney RA, Westbrook CA, Wiedemann LM (1990). Characterization of the translocation breakpoint sequences in Philadelphia-positive acute lymphoblastic leukemia. Genes Chromosomes Cancer 1: 233–9.
Pastink A, Eeken JC, Lohman PH (2001). Genomic integrity and the repair of double-strand DNA breaks. Mutat Res 480–481: 37–50.
Plank JL, Wu J, Hsieh TS (2006). Topoisomerase IIIalpha and Bloom's helicase can resolve a mobile double Holliday junction substrate through convergent branch migration. Proc Natl Acad Sci U S A 103: 11118–23.
Rafii S, O'Regan P, Xinarianos G, Azmy I, Stephenson T, Reed M et al. (2002). A potential role for the XRCC2 R188H polymorphic site in DNA-damage repair and breast cancer. Hum Mol Genet 11: 1433–8.
Raynard S, Bussen W, Sung P (2006). A double Holliday junction dissolvasome comprising BLM, topoisomerase IIIalpha, and BLAP75. J Biol Chem 281: 13861–4.
Reaban ME, Griffin JA (1990). Induction of RNA-stabilized DNA conformers by transcription of an immunoglobulin switch region. Nature 348: 342–4.
Reaban ME, Lebowitz J, Griffin JA (1994). Transcription induces the formation of a stable RNA.DNA hybrid in the immunoglobulin alpha switch region. J Biol Chem 269: 21850–7.
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: 1103–10.
Richardson C, Jasin M (2000). Frequent chromosomal translocations induced by DNA double-strand breaks. Nature 405: 697–700.
Richardson C, Moynahan ME, Jasin M (1998). Double-strand break repair by interchromosomal recombination: suppression of chromosomal translocations. Genes Dev 12: 3831–42.
Richardson C, Moynahan ME, Jasin M (1999). Homologous recombination between heterologs during repair of a double-strand break. Suppression of translocations in normal cells. Ann N Y Acad Sci 886: 183–6.
Rodriguez-Lopez R, Osorio A, Ribas G, Pollan M, Sanchez-Pulido L, de la Hoya M et al. (2004). The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations. Int J Cancer 110: 845–9.
Rooney S, Sekiguchi J, Whitlow S, Eckersdorff M, Manis JP, Lee C et al. (2004). Artemis and p53 cooperate to suppress oncogenic N-myc amplification in progenitor B cells. Proc Natl Acad Sci U S A 101: 2410–5.
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: 1379–90.
Sakano H, Huppi K, Heinrich G, Tonegawa S (1979). Sequences at the somatic recombination sites of immunoglobulin light-chain genes. Nature 280: 288–94.
Samper E, Goytisolo FA, Slijepcevic P, van Buul PP, Blasco MA (2000). Mammalian Ku86 protein prevents telomeric fusions independently of the length of TTAGGG repeats and the G-strand overhang. EMBO Rep 1: 244–52.
Schatz DG, Oettinger MA, Baltimore D (1989). The V(D)J recombination activating gene, RAG-1. Cell 59: 1035–48.
Sharma S, Sommers JA, Wu L, Bohr VA, Hickson ID, Brosh RM, Jr. (2004). Stimulation of flap endonuclease-1 by the Bloom's syndrome protein. J Biol Chem 279: 9847–56.
Sharples GJ (2001). The X philes: structure-specific endonucleases that resolve Holliday junctions. Mol Microbiol 39: 823–34.
Shechter D, Costanzo V, Gautier J (2004). ATR and ATM regulate the timing of DNA replication origin firing. Nat Cell Biol 6: 648–55.
Shinkai Y, Rathbun G, Lam KP, Oltz EM, Stewart V, Mendelsohn M et al. (1992). RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell 68: 855–67.
Shinohara A, Ogawa T (1998). Stimulation by Rad52 of yeast Rad51-mediated recombination. Nature 391: 404–7.
Sigurdsson S, Van Komen S, Bussen W, Schild D, Albala JS, Sung P (2001). Mediator function of the human Rad51B-Rad51C complex in Rad51/RPA-catalyzed DNA strand exchange. Genes Dev 15: 3308–18.
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: 1021–9.
Sonoda E, Sasaki MS, Buerstedde JM, Bezzubova O, Shinohara A, Ogawa H et al. (1998). Rad51-deficient vertebrate cells accumulate chromosomal breaks prior to cell death. Embo J 17: 598–608.
Sugimoto J, Hatakeyama T, Narducci MG, Russo G, Isobe M (1999). Identification of the TCL1/MTCP1-like 1 (TML1) gene from the region next to the TCL1 locus. Cancer Res 59: 2313–7.
Sung P (1997). Function of yeast Rad52 protein as a mediator between replication protein A and the Rad51 recombinase. J Biol Chem 272: 28194–7.
Swanson PC (2001). The DDE motif in RAG-1 is contributed in trans to a single active site that catalyzes the nicking and transesterification steps of V(D)J recombination. Mol Cell Biol 21: 449–58.
Szostak JW, Orr-Weaver TL, Rothstein RJ, Stahl FW (1983). The double-strand-break repair model for recombination. Cell 33: 25–35.
Taccioli GE, Amatucci AG, Beamish HJ, Gell D, Xiang XH, Torres Arzayus MI et al. (1998). Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivity. Immunity 9: 355–66.
Taccioli GE, Cheng HL, Varghese AJ, Whitmore G, Alt FW (1994). A DNA repair defect in Chinese hamster ovary cells affects V(D)J recombination similarly to the murine scid mutation. J Biol Chem 269: 7439–42.
Takahashi A, Ohnishi T (2005). Does gammaH2AX foci formation depend on the presence of DNA double strand breaks? Cancer Lett 229: 171–9.
Taylor AM, Byrd PJ (2005). Molecular pathology of ataxia telangiectasia. J Clin Pathol 58: 1009–15.
Taylor AM, Metcalfe JA, Thick J, Mak YF (1996). Leukemia and lymphoma in ataxia telangiectasia. Blood 87: 423–38.
Thacker J (2005). The RAD51 gene family, genetic instability and cancer. Cancer Lett 219: 125–35.
Tian M, Alt FW (2000). Transcription-induced cleavage of immunoglobulin switch regions by nucleotide excision repair nucleases in vitro. J Biol Chem 275: 24163–72.
Tischkowitz M, Dokal I (2004). Fanconi anaemia and leukaemia – clinical and molecular aspects. Br J Haematol 126: 176–91.
Tremblay A, Jasin M, Chartrand P (2000). A double-strand break in a chromosomal LINE element can be repaired by gene conversion with various endogenous LINE elements in mouse cells. Mol Cell Biol 20: 54–60.
Treuner K, Helton R, Barlow C (2004). Loss of Rad52 partially rescues tumorigenesis and T-cell maturation in Atm-deficient mice. Oncogene 23: 4655–61.
Tsuzuki T, Fujii Y, Sakumi K, Tominaga Y, Nakao K, Sekiguchi M et al. (1996). Targeted disruption of the Rad51 gene leads to lethality in embryonic mice. Proc Natl Acad Sci U S A 93: 6236–40.
Valerie K, Povirk LF (2003). Regulation and mechanisms of mammalian double-strand break repair. Oncogene 22: 5792–812.
Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L et al. (1998). Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93: 885–96.
Waldmann TA, Broder S, Goldman CK, Frost K, Korsmeyer SJ, Medici MA (1983). Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxia telangiectasia. J Clin Invest 71: 282–95.
Walker JR, Corpina RA, Goldberg J (2001). Structure of the Ku heterodimer bound to DNA and its implications for double-strand break repair. Nature 412: 607–14.
Wang WW, Spurdle AB, Kolachana P, Bove B, Modan B, Ebbers SM et al. (2001). A single nucleotide polymorphism in the 5´ untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiol Biomarkers Prev 10: 955–60.
Weinert BT, Rio DC (2007). DNA strand displacement, strand annealing and strand swapping by the Drosophila Bloom's syndrome helicase. Nucleic Acids Res 35: 1367–76.
Weinstock DM, Elliott B, Jasin M (2006a). A model of oncogenic rearrangements: differences between chromosomal translocation mechanisms and simple double-strand break repair. Blood 107: 777–80.
Weinstock DM, Richardson CA, Elliott B, Jasin M (2006b). Modeling oncogenic translocations: distinct roles for double-strand break repair pathways in translocation formation in mammalian cells. DNA Repair (Amst) 5: 1065–74.
Welzel N, Le T, Marculescu R, Mitterbauer G, Chott A, Pott C et al. (2001). Templated nucleotide addition and immunoglobulin JH-gene utilization in t(11;14) junctions: implications for the mechanism of translocation and the origin of mantle cell lymphoma. Cancer Res 61: 1629–36.
Woo Y, Wright SM, Maas SA, Alley TL, Caddle LB, Kamdar S et al. (2007). The nonhomologous end joining factor Artemis suppresses multi-tissue tumor formation and prevents loss of heterozygosity. Oncogene.
Wu L, Hickson ID (2003). The Bloom's syndrome helicase suppresses crossing over during homologous recombination. Nature 426: 870–4.
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 U S A 104: 4518–23.
Zhang JG, Goldman JM, Cross NC (1995). Characterization of genomic BCR-ABL breakpoints in chronic myeloid leukaemia by PCR. Br J Haematol 90: 138–46.
Zhu C, Mills KD, Ferguson DO, Lee C, Manis J, Fleming J et al. (2002). Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations. Cell 109: 811–21.
Zou L, Cortez D, Elledge SJ (2002). Regulation of ATR substrate selection by Rad17-dependent loading of Rad9 complexes onto chromatin. Genes Dev 16: 198–208.
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We thank Dr. Sophie La Salle for critical review of this manuscript.
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Maas, S.A., Caddle, L.B., Mills, K.D. (2008). Mechanisms of DNA Double-Strand Break Repair in Hematopoietic Homeostasis and Oncogenesis. In: Li, S. (eds) Mouse Models of Human Blood Cancers. Springer, New York, NY. https://doi.org/10.1007/978-0-387-69132-9_4
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