Role of the Ku autoantigen in V(D)J recombination and double-strand break repair

Current Topics in Microbiology and Immunology

Volumn 217, Issue , 1996, Pages 113-132

  Chu, Gilbert ^a  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIGEN;

AEROBIC METABOLISM; ANIMAL CELL; ARTICLE; COMBINED IMMUNODEFICIENCY; DNA REPAIR; DNA SEQUENCE; DNA STRAND BREAKAGE; GENE SEQUENCE; GENE TARGETING; GENETIC RECOMBINATION; NONHUMAN; PRIORITY JOURNAL; REACTION ANALYSIS; RECEPTOR GENE;

ANIMALIA;

EID: 0030419898     PISSN: 0070217X     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-3-642-50140-1_8     Document Type: Article

References (59)

1. Anderson C (1993) DNA damage and the DNA-activated protein kinase Trends Biochem Sci 18:433-437
2. 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
3. Biedermann K, Sun J, Giaccia A, Tosto L, Brown J (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
4. 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
5. 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
6. Bosma M, Carroll A (1991) The SCID mouse mutant definition, characterization, and potential uses Annu Rev Immunol 9:323-350
7. Boubnov N, Wills Z, Weaver D (1993) V(D)J recombination coding junction formation without DNA homology: processing of coding termini. Mol Cell Biol 13:6957-6968
8. Boubnov NV, Hall KT, Wilis Z, Lee SE, He DM, Benjamin DM, Pulaski CR, Band H, Reeves W, Hendrickson EA, Weaver DT (1995) Complementation of the ionizing radiation sensitivity, DNA end binding, and V(D)J recombination defects of double-strand break repair mutants by the p86 Ku autoantigen. Proc Natl Acad Sci USA 92:890-894
9. Cai Q-Q, Plet A, Imbert J, Lafage-Pochitaloff M, Cerdan C, Blanchard J-M (1994) Chromosomal location and expression of the genes coding for Ku p70 and p80 in human cell lines and normal tissues Cytogenet Cell Genet 65:221-227
10. Cao Q, Pitt S, Leszyk J, Banl E (1994) DNA-dependent ATPase from HeLa cells is related to human Ku autoantigen Biochemistry 33.8548-8557
11. Chen DJ, Marrone BL, Nguyen T, Stackhouse M, Zhao Y, Siciliano MJ (1994) Regional assignment of a human DNA repair gene (XRCC5) to 2q35 by X-ray hybrid mapping. Genomics 21:423-427
12. Errami A, Smider V, Rathmell W, He D, Hendrickson E, Zdzienicka M, Chu G (1996) Ku86 defines the genetic defect and restores X-ray resistance and V(D)J recombination to complementation group 5 hamster cells Mol Cell Biol 16.1519-1526
13. 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
14. Feldmann H, Winnacker E (1993) A putative homologue of the human autoantigen Ku from Saccharomyces cerevisiae J Biol Chem 268:12895-12900
15. Fulop G, Phillips R (1990) The scid mutation in mice causes a general defect in DNA repair. Nature 347:479-482
16. Gerstein R, Lieber MR (1993) Extent to which homology can constrain coding exon junctional diversity in V(D)J recombination Nature 363:625-627
17. Getts R, 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
18. 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
19. Gottlieb T, Jackson S (1993) The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen Cell 72 131-142
20. Hafezparast M, Kaur G, Zdzienicka M, Athwal R, Lehmann A, Jeggo P (1993) Subchromosomal localization of a gene (XRCC5) involved in double-strand break repair to the region 2q34-36. Somat Cell Mol Genet 19:413-421
21. Harrington JJ, Lieber MR (1994) The characterization of a mammalian DNA structure-specific endonuclease. EMBO J 13:1235-1246
22. Harrington JJ, Lieber MR (1995) DNA structural elements required for FEN-1 binding. J Biol Chem 270:4503-4508
23. 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
24. Jacoby D, Wensink P (1994) Yolk protein factor 1 is a Drosophila homolog of Ku, the DNA-binding subunit of a DNA-dependent protein kinase from humans. J Biol Chem 269:11484-11491
25. Jeggo AP (1990) Studies on mammalian mutants defective in rejoining double-strand breaks in DNA Mutat Res 239:1-16
26. 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
27. 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
28. 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
29. Lee SE, Pulaski C, He DM, Benjamin DM, Voss JM, Um JY, Hendrickson E (1995) Isolation of mammalian mutants that are X-ray sensitive, impaired in DNA double-strand break repair and defective for V(D)J recombination. Mutation Res 336:279-291
30. Lewis S (1994a) The mechanism of V(D)J joining: lessons from molecular, immunological, and comparative analyses. Adv Immunol 56:27-150
31. Lewis SM (1994b) P nucleotide insertions, and the resolution of hairpin DNA structures in mammalian cells Proc Natl Acad Sci USA 91.1332-1336
32. Li Z, Otevrel T, Gao Y, Cheng HL, 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
33. Lieber MR (1991) Site-specrfic recombination in the immune system. FASEB J 5.2934-2944
34. 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
35. 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 (in press)
36. McCormack W, Tpelker 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
37. Mimori T, Hardin JA (1986) Mechanism of interaction between Ku protein and DNA J Biol Chem 261 10375-10379
38. Mimori T, Hardin JA, Steitz JA (1986) Characterization of the DNA-binding protein antigen Ku recognized by autoantibodies from patients with rheumatic disorders J Biol Chem 261 2274-2278
39. Mimori T, Akizuki M, Yamagata H, Inada S, Yoshida S, Homma M (1981) Characterization of a high molecular weight acidic nuclear protein recognised by antibodies in sera from patients with polymyositis-scleroderma overlap J Clin Invest 68 611-620
40. Mimori T, Ohosone Y, Hama N, Akizuki M, Homma M, Griffith AJ, Hardin JA (1990) Isolation and characterization of cDNA encoding the 80-kDa subunit protein of the human autoantigen Ku (p70/p80) recognized by autoantibodies from patients with scleroderma-polymyositis overlap syndrome Proc Natl Acad Sci USA 87:777-1781
41. Oettinger M, Schatz D, Gorka C, Baltimore D (1990) RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination Science 248 1517-1523
42. Paillard S, Strauss F (1991) Analysis of the mechanism of interaction of simian Ku protein with DNA Nucl Acids Res 19.5619-5624
43. Paillard S, Strauss F (1993) Site-specific proteolytic cleavage of Ku protein bound to DNA Proteins 15 330-337
44. 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
45. Rathmell WK, Chu G (1994a) A DNA end-binding factor involved in double-strand break repair and V(D)J recombination. Mol Cell Biol 14 4741-4748
46. Rathmell WK, Chu G (1994b) Involvement of the Ku autoantigen in the cellular response to DNA double-strand breaks Proc Natl Acad Sci USA 91.7623-7627
47. Reeves W (1992) Antibodies to the p70/p80 (Ku) antigens in systemic lupus erythematosus. Rheum Dis Clin N Am 18.391-415
48. Reeves WH, Sthoeger ZM (1989) Molecular cloning of cDNA encoding the p70 (Ku) lupus autoantigen J Biol Chem 264:5047-5052
49. Roth DB, Wilson JH (1986) Nonhomologous recombination in mammalian cells, role for short sequence homologies in the joining reaction Mol Cell Biol 6.4295-4304
50. Roth DB, Porter TN, Wilson JH (1985) Mechanisms of nonhomologous recombination in mammalian cells. Mol Cell Biol 5.2599-2607
51. Roth DB, Chang X, Wilson JH (1989) Comparison of filler DNA at immune, nonimmune, and oncogenic rearrangements suggests multiple mechanisms of formation. Mol Cell Biol 9:3049-3057
52. 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
53. Schatz DG, Oettinger MA, Baltimore D (1989) The V(D)J recombination activating gene, RAG-1. Cell 59:1035-1048
54. Smider V, Rathmell WK, Lieber M, Chu G (1994) Restoration of X-ray resistance and V(D)J recombination in mutant cells by Ku cDNA Science 266:288-291
55. 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
56. 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
57. 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
58. 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
59. Yaneva M, Wen J, Ayala A, Cook R (1989) cDNA-derived amino acid sequence of the 86-kDa subunit of the Ku antigen. J Biol Chem 264:13407-13411