The end-joining reaction in V(D)J recombination

Seminars in Immunology

Volumn 9, Issue 3, 1997, Pages 189-197

  Smider, Vaughn ^a   Chu, Gilbert ^a  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

DNA dependent protein kinase; Double strand break repair; Ionizing radiation; Ku autoantigen; V(D)J recombination

Indexed keywords

DEOXYRIBONUCLEOPROTEIN;

ARTICLE; CELL CYCLE; COMBINED IMMUNODEFICIENCY; DNA DAMAGE; DNA REPAIR; ENZYME ACTIVE SITE; IMMUNOGLOBULIN VARIABLE REGION;

EID: 0031171708     PISSN: 10445323     EISSN: None     Source Type: Journal    
DOI: 10.1006/smim.1997.0070     Document Type: Article

References (76)

1. 1. Lewis S (1994) The mechanism of V(D)J joining: lessons from molecular, immunological, and comparative analyses. Adv Immunol 56:27-150
2. 2. Roth D, Menetski J, Nakajima P, Bosma M, Gellert M (1992) V(D)J recombination: broken DNA molecules with covalently sealed (hairpin) coding ends in scid mouse thymocytes. Cell 70:983-991
3. 3. Ramsden DA, Gellert M (1995) Formation and resolution of double-strand break intermediates in V(D)J rearrangement. Genes Dev 9:2409-2420
4. 4. McBlane F, van Gent D, Ramsden D, Romeo C, Cuomo C, Gellert M, Oettinger M (1995) Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two steps. Cell 83:387-395
5. 5. van Gent D, McBlane JF, Ramsden D, Sadofsky M, Hesse J, Gellert M (1995) Initiation of V(D)J recombination in a cell-free system. Cell 81:925-934
6. 6. Difilippantonio M, McMahan C, Eastman Q, Spanopoulou E, Schatz D (1996) RAG1 mediates signal sequence recognition and recruitment of RAG2 in V(D)J recombination. Cell 87:253-262
7. 7. Spanopoulou E, Zaitzeva F, Wang FH, Santagata S, Baltimore D, Panayotou G (1996) The homeodomain region of Rag-1 reveals the parallel mechanisms of bacterial and V(D) J recombination. Cell 87:263-276
8. 8. Eastman Q, Leu TMJ, Schatz D (1996) Initiation of V(D)J recombination in vitro: the 12/23 rule. Nature 380:85-88
9. 9. van Gent D, Ramsden D, Gellert M (1996) The RAG1 and RAG2 proteins establish the 12/23 rule in V(D)J recombination. Cell 85:107-113
10. 10. Lafaille J, DeCloux A, Bonneville M, Takagaki Y, Tonegawa S (1989) Junctional sequences of T cell receptor γδ genes: implications for γδ T cell lineages and for a novel intermediate of V-(D)-J joining. Cell 59:859-870
11. 11. McCormack W, Tjoelker L, Carlson L, Petryniak B, Barth C, Humphries E, Thompson C (1989) Chicken IgL gene rearrangement involves deletion of a circular episome and addition of single nonrandom nucleotides to both coding segments. Cell 56:785-791
12. 12. Gilfillan S, Dierich A, Lemeur M, Benoist C, Mathis D (1993) Mice lacking TdT: mature animals with an immature lymphocyte repertoire. Science 261:1175-1178
13. 13. Komori T, Okada A, Stewart V, Alt F (1993) Lack of N regions in antigen receptor variable region genes of TdT-deficient lymphocytes. Science 261:1171-1175
14. 14. Gerstein R, Lieber MR (1993) Extent to which homology can constrain coding exon junctional diversity in V(D)J recombination. Nature 363:625-627
15. 15. Chu G (1996) Role of the Ku autoantigen in V(D)J recombination and double-strand break repair, in (Jessberger R, Lieber M eds), Springer, Berlin, Molecular Analysis of DNA Rearrangements in the Immune System. pp 113-132
16. 16. Rathmell WK, Chu G (1996) Mechanisms for DNA double-strand break repair in eukaryotes, in DNA Damage and Repair: Biochemistry, Genetics and Cell Biology (Nickoloff JA, Hoekstra M ed.) Humana Press, in press
17. 17. Lieber MR, Hesse JE, Lewis S, Bosma GC, Rosenberg N, Mizuuchi K, Bosma MJ, Gellert M (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
18. 18. Fulop G, Phillips R (1990) The scid mutation in mice causes a general defect in DNA repair. Nature 347:479-482
19. 19. Biedermann K, Sun J, Giaccia A, Tosto L, 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
20. 20. Hendrickson E, Qin XQ, Bump E, Schatz D, Oettinger M, Weaver D (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
21. 21. Pergola E, 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
22. 22. Taccioli G, Rathbun G, Oltz E, Stamato T, Jeggo P, Alt F (1993) Impairment of V(D)J recombination in double-strand break repair mutants. Science 260:207-210
23. 23. Rathmell WK, Chu G (1994) A DNA end-binding factor involved in double-strand break repair and V(D)J recombination. Mol Cell Biol 14:4741-4748
24. 24. Getts G, Stamato T (1994) Absence of a Ku-like DNA end binding activity in the xrs double-strand DNA repair-deficient mutant. J Biol Chem 269:15981-15984
25. 25. Rathmell WK, Chu G (1994) Involvement of the Ku autoantigen in the cellular response to DNA double-strand breaks. Proc Natl Acad Sci USA 91:7623-7627
26. 26. de Vries E, van Driel W, Bergsma WG, Arnberg AC, van der Vliet PC (1989) HeLa nuclear protein recognizing DNA termini and translocating on DNA forming a regular DNA-multimeric protein complex. J Mol Biol 208:65-78
27. 27. Blier PR, Griffith AJ, Craft J, Hardin JA (1992) Binding of Ku protein to DNA: measurement of affinity for ends and demonstration of binding to nicks. J Biol Chem 268:7594-7601
28. 28. Falzon M, Fewell JW, Kuff EL (1993) EBP-80, a transcription factor closely resembling the human autoantigen Ku, recognizes single-to double-strand transitions in DNA. J Biol Chem 268:10546-10552
29. 29. Smider V, Rathmell WK, Lieber M, Chu G (1994) Restoration of X-rayresistance and V(D)J recombination in mutant cells by Ku cDNA. Science 266:288-291
30. 30. Taccioli G, Gottlieb T, Blunt T, Priestly A, Demengeot J, Mizuta R, Lehmann A, Alt F, Jackson S, Jeggo P (1994) Ku80: product of the XRCC5 gene and its role in DNA repair and V(D)J recombination. Science 265:1442-1445
31. 31. Errami A, Smider V, Rathmell WK, He D, Hendrickson EA, Zdzienicka M, Chu G (1996) Ku86 defines the genetic defect and restores X-ay resistance and V(D)J recombination to complementation group 5 hamster cells. Mol Cell Biol 16:1519-1526
32. 32. Nussenzweig A, Chen C, da Costa Scares V, Sanchez M, Nussenzweig M, Li G (1996) Requirement for Ku80 in growth and immunoglobulin V(D)J recombination. Nature 382:551-555
33. 33. Zhu C, Bogue M, Lim DS, Hasty P, Roth D (1996) Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates. Cell 86:379-389
34. 34. Gottlieb T, Jackson S (1993) The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen. Cell 72:131-142
35. 35. Blunt T, Finnie N, Taccioli G, Smith G, Demengeot J, Gottlieb T, Mizuta R, Varghese A, Alt F, Jeggo P, Jackson S (1995) Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation. Cell 80:813-823
36. 36. Kirschgessner C, Patil C, Evans J, Cuomo C, Fried L, Carter T, Oettinger M, Brown JM (1995) DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. Science 267:1178-1185
37. 37. Peterson S, Kurimasa A, Oshimura M, Dynan W, Bradbury E, Chen D (1995) Loss of the catalytic subunit of the DNA-dependent protein kinase in DNA double-strand-break-repair mutant mammalian cells. Proc Natl Acad Sci USA 92:3171-3174
38. 38. Blunt T, Gell D, Fox M, Taccioli G, Jackson S, Lehman A, Jeggo P (1996) Identification of a nonsense mutation in the carboxyterminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse. Proc Natl Acad Sci USA 93:
39. 39. Danska J, Holland D, Mariathasan S, Williams K, Guidos C (1996) Biochemical and genetic defects in the DNA-dependent protein kinase in murine scid lymphocytes. Mol Cell Biol 10:6472-6481
40. 40. Wiler R, Leber R, Moore B, VanDyk L, Perryman L, Meek K (1995) Equine severe combined immunodeficiency: a defect in V(D)J recombination and DNA-dependent protein kinase activity. Proc Natl Acad Sci USA 92:11485-11489
41. 41. Li Z, Otevrel T, Gao Y, Cheng H-L, Seed B, Stamato TD, Taccioli GE, Alt FW (1995) The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell 83:1079-1089
42. 42. Mimori T, Akizuki M, Yamagata H, Inada S, Yoshida S, Homma M (1981) Characterization of a high molecular weight acidic nuclear protein recognized by antibodies in sera from patients with polymyositis-scleroderma overlap. J Clin Invest 68:611-620
43. 43. Reeves W (1992) Antibodies to the p70/p80 (Ku) antigens in systemic lupus erythematosus. Rheum Dis Clin North Am 18:391-415
44. 44. Mimori T, Hardin JA (1986) Mechanism of interaction between Ku protein and DNA. J Biol Chem 261:10375-10379
45. 45. Paillard S, Strauss F (1991) Analysis of the mechanism of interaction of simian Ku protein with DNA. Nucleic Acids Res 19:5619-5624
46. 46. Wu X, Lieber MR (1996) Protein protein and protein-DNA interaction regions within the DNA end-binding protein Ku70-Ku86. Mol Cell Biol 16:5186-5193
47. 47. Cao Q, Pitt S, Leszyk J, Baril E (1994) DNA-dependent ATPase from HeLa cells is related to human Ku autoantigen. Biochemistry 33:8548-8557
48. 48. Tuteja N, Tuteja R, Ochem A, Taneja P, Huang N, Simoncsits A, Susic S, Rahman K, Marusic L, Chen J, Zhang J, Wang S, Pongor S, Falaschi A (1994) Human DNA helicase II: a novel DNA unwinding enzyme identified as the Ku autoantigen. EMBO J 13:4991-5001
49. 49. Lohman T, Bjornson K (1996) Mechanisms of helicase-catalyzed DNA unwinding. Annu Rev Biochem 65:169-214
50. 50. Lees-Miller S, Chen Y-R, Anderson C (1990) Human cells contain a DNA-activated protein kinase that phosphorylates simian virus 40 T antigen, mouse p53, and human Ku autoantigen. Mol Cell Biol 10:6472-6481
51. 51. Morozov V, Falzon M, Anderson C, Kuff E (1994) DNA-dependent protein kinase is activated by nicks and larger single-stranded gaps. J Biol Chem 269:16684-16688
52. 52. Anderson C (1993) DNA damage and the DNA-activated protein kinase. Trends Biochem Sci 18:433-437
53. 53. Boubnov NV, Weaver DT (1995) Scid cells are deficient in Ku and replication protein A phosphorylation by the DNA-dependent protein kinase. Mol Cell Biol 15:5700-5706
54. 54. Fried L, Koumenis C, Peterson S, Green S, van Zijl P, Allalunis-Turner J, Chen D, Fishel R, Giaccia A, Brown JM, Kirchgessner C (1996) The DNA damage response in DNA-dependent protein kinase-deficient SCID mouse cells: replication protein A hyperphosphorylation and p53 induction. Proc Natl Acad Sci USA 93:13825-13830
55. 55. Guidos C, Williams C, Grandal I, Knowles G, Huang MT, Danska J (1996) V(D)J recombination activates a p53-dependent DNA damage checkpoint in scid lymphocyte precursors. Genes Dev 10:2038-2054
56. 56. Nacht M, Strasser A, Chan YR, Harris A, Schlissel M, Bronson R, Jacks T (1996) Mutations in the p53 and SCID genes cooperate in tumorigenesis. Genes Dev 10:2055-2066
57. 57. Rathmell WK, Kaufmann WK, Hurt JC, Byrd LL, Chu G (1997) DNA-dependent protein kinase is not required for accumulation of p53 or cell cycle arrest after DNA damage. Cancer Res 57:68-74
58. 58. Chan D, Lees-Miller S (1996) The DNA-dependent protein kinase is inactivated by autophosphorylation of the catalytic subunit. J Biol Chem 271:8936-8941
59. 59. Paillard S, Strauss F (1993) Site-specific proteolytic cleavage of Ku protein bound to DNA. Proteins: Structure, Function, and Genetics 15:330-337
60. 60. Han Z, Johnston C, Reeves W, Carter T, Wyche J, Hendrickson E (1996) Characterization of a Ku86 variant protein that results in altered DNA binding and diminished DNA-dependent protein kinase activity. J Biol Chem 271:14098-14104
61. 61. Zakian V (1995) ATM-related genes: what do they tell us about functions of the human gene? Cell 82:685-687
62. 62. Steen S, Gomelsky L, Roth D (1996) The 12/ 23 rule is enforced at the cleavage step of V(D)J recombination in vivo. Genes Cells 1:543-553
63. 63. Harrington JJ, Lieber MR (1994) The characterization of a mammalian DNA structure-specific endonuclease. EMBO J 13:1235-1246
64. 64. Harrington JJ, Lieber MR (1995) DNA structural elements required for FEN-1 binding. J Biol Chem 270:4503-4508
65. 65. Thompson CB (1995) New insights into V(D)J recombination and its role in the evolution of the immune system. Immunity 5:531-539
66. 66. van Gent D, Mizuuchi K, Gellert M (1996) Similarities between initiation of V(D)J recombination and retroviral integration. Science 271:1592-1594
67. 67. Beall E, Admon A, Rio D (1994) A Drosophila protein homologous to the human p70 Ku autoimmune antigen interacts with the P transposable element inverted repeats. Proc Natl Acad Sci USA 91:12681-12685
68. 68. Milne G, Jin S, Shannon K, Weaver D (1996) Mutations in two Ku homologs define a DNA end-joining repair pathway in Saccharomyces cerevisiae. Mol Cell Biol 16:4189-4198
69. 69. Kim D, Ouyang H, Yang SH, Nussenzweig A, Bergman P, Li GC (1995) A constitutive heat shock element-binding factor is immunologically identical to the Ku autoantigen. J Biol Chem 270:15277-15284
70. 70. Feldmann H, Winnacker E (1993) A putative homologue of the human autoantigen Ku from Saccharomyces cerevisiae. J Biol Chem 268:12895-12900
71. 71. Wickner S, Gottesman S, Skowyra D, Hoskins J, McKenney K, Maurizi M (1994) A molecular chaperone, ClpA, functions like DnaK and DnaJ. Proc Natl Acad Sci USA 91:12218-12222
72. 72. Hoff C, Ghosh A, Prabhakar B, Jacob S (1994) Enhancer 1 binding factor, a Ku-related protein, is a positive regulator of RNA polymerase I transcription initiation. Proc Natl Acad Sci USA 91:762-766
73. 73. Kuhn A, Gottleib T, Jackson S, Grummt I (1995) DNA-dependent protein kinase: a potent inhibitor of transcription by RNA polymerase I. Genes Dev 9:193-203
74. 74. Giffin W, Torrance H, Rodda D, Prefontaine G, Pope L, Hache R (1996) Sequence-specific DNA binding by Ku autoantigen and its effect on transcription. Nature 380:265-268
75. 75. Chu G, Mayne L 1996) Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the disease? Trends Genet 12:187-192
76. 76. Cortes P, Weis-Garcia F, Misulovin Z, Nussenzweig A, Lai J-S, Li G, Nussenzweig MC, Baltimore D (1996) In vitro V(D)J recombination: signal joint formation. Proc Natl Acad Sci USA 93:14008-14013