Pathological and physiological double-strand breaks: Roles in cancer, aging, and the immune system

American Journal of Pathology

Volumn 153, Issue 5, 1998, Pages 1323-1332

  Lieber, Michael R ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA; FREE RADICAL;

AGING; ARTICLE; CANCER; CHROMOSOME TRANSLOCATION; COMBINED IMMUNODEFICIENCY; DNA DAMAGE; DNA RECOMBINATION; DNA REPAIR; DNA STRAND BREAKAGE; IONIZING RADIATION; PRIORITY JOURNAL; ANIMAL; AWARDS AND PRIZES; GENE TRANSLOCATION; GENETIC RECOMBINATION; GENETICS; HUMAN; IMMUNITY; MEDICAL SOCIETY; NEOPLASM; PATHOLOGY; REVIEW; UNITED STATES;

AGING; ANIMALS; AWARDS AND PRIZES; DNA DAMAGE; DNA REPAIR; HUMANS; IMMUNITY; NEOPLASMS; PATHOLOGY; RECOMBINATION, GENETIC; SOCIETIES, MEDICAL; TRANSLOCATION, GENETIC; UNITED STATES;

EID: 0032209738     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)65716-1     Document Type: Article

References (73)

1. Friedberg EC, Walker GC, Siede W: DNA Repair and Mutagenesis. Washington, DC, ASM Press, 1995
2. Ramsden DA, Gellert M: Ku protein stimulates DNA end joining by mammalian DNA ligases: a direct role for Ku in repair of DNA double-strand breaks. EMBO J 1998, 17:609-614
3. Pang D, Yoo S, Dynan WS, Jung M, Dritschilo A: Ku proteins join DNA fragments as shown by atomic force microscopy. Cancer Res 1997, 57:1412-1415
4. Roth D, Wilson J: Illegitimate recombination in mammalian cells. Genetic Recombination. Edited by Kucherlapapti R, Smith GR. Washington, DC, American Society for Microbiology, 1988, pp 621-653
5. Tonegawa S: Somatic generation of antibody diversity. Nature 1983, 302:575-581
6. Schatz DG, Oettinger MA, Baltimore D: The V(D)J recombination activating gene, RAG-1. Cell 1989, 59:1035-1048
7. Oettinger MA, Schatz DG, Gorka C, Baltimore D: Rag-1 and Rag-2, adjacent genes that synergistically activate V(D)J recombination. Science 1990, 248:1517-1523
8. vanGent DC, McBlane JF, Ramsden DA, Sadofsky MJ, Hesse JE, Gellert M: Initiation of V(D)J recombination in a cell-free system. Cell 1995, 81:925-934
9. McBlane JF, vanGent DC, Ramsden DA, Romeo C, Cuomo CA, Gellert M, Oettinger MA: Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell 1995, 83:387-395
10. vanGent DC, Mizuuchi K, Gellert M: Similarities between initiation of V(D)J recombination and retroviral integration. Science 1996, 271: 1592-1594
11. Craig NL: V(D)J recombination and transposition: closer than expected. Science 1996, 271:1512-1513
12. Hoim K, Gellert M: A stable RAG1-RAG2-DNA complex that is active in V(D)J cleavage. Cell 1997, 88:65-72
13. Grawunder U, Leiber MR: A complex of RAG-1 and RAG-2 persists on the DNA after single-strand cleavae at V(D)J recombination signal sequences. Nucleic Acids Res 1997, 25:1375-1382
14. vanGent DC, Ramsden DA, Gellert M: The RAG1 and RAG2 proteins establish the 12/23 rule in V(D)J recombination. Cell 1996, 85:107-113
15. Eastman QM, Leu TMJ, Schatz DG: Initiation of V(D)J recombination in vitro obeying the 12/23 rule. Nature 1996, 380:85-88
16. Sawchuk D, Weis-Garcia F, Malik S, Besmer E, Bustin M, Nussenzweig M, Cortes P: V(D)J recombination: modulation of RAG1 and RAG2 cleavage activity on 12/23 substrates by whole cell extract and DNA-bending proteins. J Exp Med 1997, 185:2025-2032
17. vanGent D, Hoim K, Paull T, Gellert M: Stimulation of V(D)J cleavage by high mobility group proteins. EMBO J 1997, 16:2665-2670
18. Difilippantonio M, McMahan C, Eastman Q, Spanopoulou E, Schatz DG: RAG1 mediates signal sequence recognition and recruitment of RAG2 in V(D)J recombination. Cell 1996, 87:253-262
19. Spanopoulou E, Zaitseva F, Wang FH, Santagata S, Baltimore D, Panayotou G: The homeodomain region of Rag-1 reveals the parallel mechanisms of bacterial and V(D)J recombination. Cell 1996, 87: 263-276
20. Hsieh C, McCloskey RP, Lieber MR: V(D)J recombination on minichromosomes is not affected by transcription. J Biol Chem 1992, 267:5613-5619
21. Schlissel M, Voronova A, Baltimore D: Helix-loop-helix transcription factor E47 activates germ-line immunoglobulin heavy-chain gene transcripton and rearrangement in a pre-T-cell line. Genes Dev 1991, 5:1367-1376
22. Alvarez JD, Anderson SJ, Loh DY: V(D)J recombination and allelic exclusion of a TCR beta chain minilocus occurs in the absence of a functional promoter. J Immunol 1995, 155:1191-1202
23. Engler P, Roth P, Kim JY, Storb U: Factors affecting the rearrangement efficiency of an Ig test gene. J Immunol 1991, 146:2826-2835
24. Ferrier P, Krippl B, Blackwell TK, Furley AJW, Suh H, Winoto A, Cook WD, Hood L, Constantini F, Alt FW: Separate elements control DJ and VDJ rearrangement in a transgenic recombination substrate. EMBO J 1990, 9:117-125
25. Capone M, Watrin F, Fernex C, Horvat B, Krippl B, Wu L, Scollay R, Ferrier P: TCRβ and TCRα gene enhancers confer tissue- and stage-specificity to V(D)J recombination events. EMBO J 1993, 12:4335-4346
26. Fernex C, Caillol D, Capone M, Krippl B, Ferrier P: Sequences affecting the V(D)J recombinational activity of the IgH intronic enhancer in a transgenic substrate. Nucleic Acids Res 1994, 22:792-798
27. Lichtenstein M, Keini G, Cedar H, Bergman Y: B cell-specific demethylation: a novel role for the intronic κ chain enhancer sequence. Cell 1994, 76:913-923
28. Engler P, Weng A, Storb U: Influence of CpG methylation and target spacing on V(D)J recombination in a transgenic substrate. Mol Cell Biol 1993, 13:571-577
29. Hsieh C, Lieber MR: CpG methylated minichromosomes become inaccessible for V(D)J recombination after undergoing replication. EMBO J 1992, 11:315-325
30. Hsieh C-L: The dependence of transcriptional repression on CpG methylation density. Mol Cell Biol 1994, 14:5487-5494
31. Constantinescu A, Schlissel MS: Changes in locus-specific V(D)J recombinase activity induced by immunoglobulin gene products during B cell development. J Exp Med 1996, 185:609-620
32. Stanhope P, Hudson KM, Shaffer AL, Constantinescu A, Schlissel MS: Cell type-specific chromatin structure determines the targeting of V(D)J recombinase activity in vitro. Cell 1996, 85:887-897
33. Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen HT, Desiderio S, Lieber MR, Bartram CR: RAG mutations in human B cell-negative SCID. Science 1996, 274:97-99
34. Roth DB, Menetski JP, Nakajima P, Bosma MJ, Gellert M: V(D)J recombination: broken DNA molecules with covalently sealed (hairpin) coding ends in SCID mouse thymocytes. Cell 1992, 70:983-991
35. Danska JS, Holland DP, Mariathasan S, Williams KM, Guidos CJ: Biochemical and genetic defects in DNA-dependent protein kinase in murine scid lymphocytes. Mol Cell Biol 1996, 16:5507-5517
36. Blunt T, Gell D, Fox M, Taccioli G, Lehman A, Jackson S, Jeggo PA: Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse. Proc Natl Acad Sci USA 1996, 93: 10285-10290
37. Ramsden D, Paull T, Gellert M: Cell-free V(D)J recombination. Nature 1997, 388:488-491
38. Leu TM, Eastman QM, Schatz DG: Coding joint formation in a cell-free V(D)J recombination system. Immunity 1997, 7:303-314
39. Gottlieb T, Jackson SP: The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen. Cell 1993, 72:131-142
40. Zhu C, Bogue MA, Lim D-S, Hasty P, and Roth DB: Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates. Cell 1996, 86:379-389
41. Nussenzweig A, Chen C, Sores VdC, Sanchez M, Sokol K, Nussenzweig MC, Li GC: Requirement for Ku80 in growth and immunoglobulin V(D)J recombination. Nature 1996, 382:551-555
42. Ouyang H, Nussenzweig A, Kurimasa A, Soares V, Li X, Cordon-Cardo C, Li W, Cheong N, Nussenzweig M, Iliakis G, Chen DJ, Li GC: Ku70 is required for DNA repair but not for T cell antigen receptor gene recombination in vivo. J Exp Med 1997, 186:921-929
43. Gu Y, Jin S, Gao Y, Weaver DT, Alt FW: Ku70-deficient embryonic stem cells have increased ionizing radiosensitivity, defective DNA end-binding activity, and inability to support V(D)J recombination. Proc Natl Acad Sci USA 1997, 8076-8081
44. deVries E, Driel WV, Bergsma WG, Arnberg AC, Vliet PC: HeLa nuclear protein recognizing DNA termini and translocating on DNA forming a regular DNA-multimeric protein complex. J Mol Biol 1989, 208:65-78
45. Brush G, Anderson CW, Kelly TJ: The DNA-activated protein kinase is required for the phosphorylation of replication protein A during SV40 DNA replication. Proc Natl Acad Sci USA 1994, 91:12520-12524
46. Yaneva M, Kowaleski T, Lieber MR: Interaction of DNA-dependent protein kinase with DNA and with Ku: biochemical and atomic-force microscopy. EMBO J 1997, 16:5098-5112
47. Pan Z, Amin AA, Gibbs E, Niu H, Hurwitz J: Phosphorylation of the p34 subunit of human single-stranded DNA-binding protein in cyclin A-activated G1 extracts is catalyzed by cdk-cyclin A complex and DNA-dependent protein kinase. Proc Natl Acad Sci USA 1994, 91: 8343-8347
48. Dvir A, Peterson SR, Knuth MW, Lu H, Dynan WS: Ku autoantigen is the regulatory component of a template-associated protein kinase that phosphorylates RNA polymerase II. Proc Natl Acad Sci USA 1992, 89:11920-11924
49. Dvir A, Stein LY, Calore BL, Dynan WS: Purification and characterization of a template-associated protein kinase that phosphorylates RNA polymerase II. J Biol Chem 1993, 268:10440-10447
50. Lieber MR, Hesse JE, Lewis S, Bosma GC, Rosenberg N, Mizuuchi K, Bosma MJ, Gellert M: The defect in murine severe combined immune deficiency: joining of signal sequences but not coding segments in V(D)J recombination. Cell 1988, 55:7-16
51. Levchenko I, Luo L, Baker TA: Disassembly of the Mu transposase tetramer by the ClpX chaperone. Genes Dev 1995, 9:2399-2408
52. Lieber MR, Hesse JE, Mizuuchi K, Gellert M: Lymphoid V(D)J recombination: nucleotide insertion at signal joints as well as coding joints. Proc Natl Acad Sci USA 1988, 85:8588-8592
53. Lewis SM: The mechanism of V(D)J joining: lessons from molecular immunological and comparative analyses. Adv Immunol 1994, 56:27-150
54. Agrawal A, Schatz DG: RAG1 and RAG2 form a stable postcleavage synaptic complex with DNA containing signal ends in V(D)J recombination. Cell 1997, 89:43-53
55. Lewis S, Hesse JE, Mizuuchi K, Gellert M: Novel strand exchanges in V(D)J recombination. Cell 1988, 55:1099-1107
56. Rolink A, Melchers F, Andersson J: The SCID but not the RAG-2 gene product is required for Sμ-Ss heavy chain switching. Immunity 1996, 5:319-330
57. Daniels GA, Lieber MR: RNA:DNA complex formation upon transcription of immunoglobulin switch regions: implications for the mechanism and regulation of class switch recombination. Nucleic Acids Res 1995, 23:5006-5011
58. Daniels GA, Lieber MR: Strand-specificity in the transcriptional targeting of recombination at immunoglobulin class switch sequences. Proc Natl Acad Sci USA 1995, 92:5625-5629
59. Reaban ME, Griffin JA: Induction of RNA-stabilized DNA conformers by transcription of an immunoglobulin switch region. Nature 1990, 348:342-344
60. Reaban ME, Lebowitz J, Griffin JA: Transcription induces the formation of a stable RNA:DNA hybrid in the immunoglobulin alpha switch region. J Biol Chem 1994, 269:21850-21857
61. Stavnezer J: Immunoglobulin class switching. Curr Opin Immunol 1996, 8:199-205
62. Lieber MR: The role of site-directed recombinases in physiologic and pathologic chromosomal rearrangements. The Causes and Consequences of Chromosomal Translocations. Edited by Kirsch I. Boca Raton, FL, CRC Press, 1992, pp 239-275
63. Lewis SM, Agard E, Suh S, Czyzyk L: Cryptic signals and the fidelity of V(D)J joining. Mol Cell Biol 1997, 17:3125-3136
64. Taki S, Schwenk F, Rajewsky K: Rearrangement of upstream Dh and Vh genes to a rearranged immunoglobulin variable region gene inserted into the DQ52-Jh region of the immunoglobulin heavy chain locus. Eur J Immunol 1995, 25:1888-1896
65. Bakhshi A, Wright JJ, Graninger W, Seto M, Owens J, Cossman J, Jensen JP, Goldman P, Korsmeyer SJ: Mechanism of the t(14;18) chromosomal translocation: structural analysis of both derivative 14 and 18 reciprocal partners. Proc Natl Acad Sci USA 1987, 84:2396-2400
66. Liang F, Han M, Romanienko PJ, Jasin M: Homology-directed repair is a major double-strand break repair pathway in mammalian cells. Proc Natl Acad Sci USA 1998, 95:5172-5177
67. Sonoda E, Sasaki MS, Buerstedde JM, Bezzubova O, Shinohara A, Ogawa H, Takata M, Yamaguchi-Iwai Y, Takeda S: Rad51-deficient vertebrate cells accumulate chromosomal breaks prior to cell death. EMBO J 1998, 17:598-608
68. Kanaar R, Hoeijmakers JHJ: Recombination and joining: different means to the same ends. Genes Funct 1997, 1:165-174
69. Nelms BE, Maser RS, MacKay JF, Lagally MG, Petrini JHJ: In situ visualization of DNA double-strand break repair in human fibroblasts. Science 1998, 280:590-592
70. Gu Y, Seidl K, Rathbun GA, Zhu C, Manis JP, vanderStoep N, Davidson L, Cheng HL, Sekiguchi J, Frank K, Stanhope-Baker P, Schlissel MS, Roth DB, Alt FW: Growth retardation and leaky SCID phenotype of Ku70-deficient mice. Immunity 1997, 7:653-665
71. Sheehan KM, Lieber MR: V(D)J recombination: signal and coding joint resolution are uncoupled and depend on parallel synapsis of the sites. Mol Cell Biol 1993, 13:1363-1370
72. Sutton HE: Human Genetics. Philadelphia, Saunders, 1989
73. Casellas R, Nussenzweig A, Wuerffel R, Pelanda R, Reichlin A, Suh H, Qin X, Besmer E, Kenter A, Kajewsky K, Nussenzweig M: Ku80 is required for immunoglobulin isotype switching. EMBO J 1998, 17: 2404-2411