DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes

Molecular Cell

Volumn 2, Issue 4, 1998, Pages 477-484

  Grawunder, Ulf ^a,c   Zimmer, David ^a   Fugmann, Sebastian ^b   Schwarz, Klaus ^b   Lieber, Michael R ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF ULM   (Germany)

^c BASEL INSTITUTE FOR IMMUNOLOGY   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA POLYMERASE; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; POLYDEOXYRIBONUCLEOTIDE SYNTHASE (ATP); RECOMBINASE;

ALLELE; ARTICLE; B LYMPHOCYTE; CELL CULTURE; CYTOLOGY; DNA REPAIR; ENZYMOLOGY; GENETIC COMPLEMENTATION; GENETICS; HUMAN; METABOLISM; MUTAGENESIS; PHENOTYPE; PHYSIOLOGY; RADIATION EXPOSURE;

ALLELES; B-LYMPHOCYTES; CELLS, CULTURED; DNA LIGASES; DNA NUCLEOTIDYLTRANSFERASES; DNA REPAIR; DNA, COMPLEMENTARY; GENETIC COMPLEMENTATION TEST; HUMANS; MUTAGENESIS; PHENOTYPE; VDJ RECOMBINASES;

EID: 0032185230     PISSN: 10972765     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1097-2765(00)80147-1     Document Type: Article

References (42)

1. -/- mutants of the chicken DT40 cell line. Cell 89, 185-193.
2. Blunt, T., Finnie, N.J., Taccioli, G.E., Smith, G.C.M., Demengeot, J., Gottlieb, T.M., Mizuta, R., Varghese, A.J., Alt, F.W., Jeggo, P.A., and Jackson, S.P. (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.
3. Bosma, M., Schuler, W., and Bosma, G. (1988). The SCID mouse mutant. Curr. Top. Microbiol. Immunol. 137, 197-202.
4. Callebaut, I., and Mornon, J.P. (1997). From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repair. FEBS Lett. 400, 25-30.
5. Critchlow, S.E., Bowater, R.P., and Jackson, S.P. (1997). Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. Curr. Biol. 7, 588-598.
6. Feldhaus, A.L., Klug, C.A., Arvin, K.L., and Singh, H. (1993). Targeted disruption of the Oct-2 locus in a B cell provides genetic evidence for two distinct cell type-specific pathways of octamer element-mediated gene activation. EMBO J. 12, 2763-2772.
7. Gauss, G.H., and Lieber, M.R. (1992). DEAE-dextran enhances electroporation of mammalian cells. Nucleic Acids Res. 20, 6739-6740.
8. Gauss, G.H., and Lieber, M.R. (1993). Unequal signal and coding joint formation in human V(D)J recombination. Mol. Cell. Biol. 13, 3900-3906.
9. Gauss, G.H., and Lieber, M.R. (1996). Mechanistic constraints on diversity in human V(D)J recombination. Mol. Cell. Biol. 16, 258-269.
10. Gauss, G.H., Domain, I., Hsieh, C.L., and Lieber, M.R. (1998). V(D)J recombination activity in human hematopoietic cells: correlation with developmental stage and genome stability. Eur. J. Immunol. 28, 351-358.
11. Gellert, M. (1997). Recent advances in understanding V(D)J recombination. Adv. Immunol. 64, 39-64.
12. Grawunder, U., Wilm, M., Wu, X., Kulesza, P., Wilson, T.E., Mann, M., and Lieber, M.R. (1997). Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature 388, 492-495.
13. Grawunder, U., West, R.B., and Lieber, M.R. (1998a). Antigen receptor gene rearrangement. Curr. Opin. Immunol. 10, 172-180.
14. Grawunder, U., Zimmer, D., and Lieber, M.R. (1998b). DNA ligase binds to XRCC4 via a motif located between rather than within its BRCT domains. Curr. Biol. 8, 873-876.
15. Gu, Y., Seidl, K.J., Rathbun, G. A., Zhu, C., Manis, J.P., van der Stoep, N., Davidson, L., Cheng, H.L., Sekiguchi, J.M., Frank, K., et al. (1997). Growth retardation and leaky SCID phenotype of Ku70-deficient mice. Immunity 7, 653-665.
16. Herrmann, G., Lindahl, T., and Schar, P. (1998). S. cerevisiae LIF1: a function involved in DNA double-strand break repair related to mammalian XRCC4. EMBO J. 17, 4188-198.
17. Kirchgessner, C.U., Patil, C.K., Evans, J.W., Cuomo, C.A., Fried, L.M., Carter, T., Oettinger, M.A., and Brown, J.M. (1995). DNA-dependent kinase (p350) as a candidate gene for the murine SCID defect. Science 267, 1178-1182.
18. Koonin, E.V., Altschul, S.F., and Bork, P. (1996). Functional motifs. Nature Genet. 13, 266-267.
19. Kulesza, P., and Lieber, M.R. (1998). DNA-PK is essential only for coding joint formation in V(D)J recombination. Nucleic Acids Res. 26, 3944-3948.
20. Li, Z., Otevrel, T., Gao, Y., Cheng, H.L., Seed, B., Stamato, T.D., Taccioli, G.E., and Alt, F.W. (1995). The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell 83, 1079-1089.
21. Liang, F., Han, M., Romanienko, P.J., and Jasin, M. (1998). Homology-directed repair is a major double-strand break repair pathway in mammalian cells. Proc. Natl. Acad. Sci. 95, 5172-5177.
22. Lieber, M.R., Grawunder, U., Wu, X., and Yaneva, M. (1997). Tying loose ends: roles of Ku and DNA-dependent protein kinase in the repair of double-strand breaks. Curr. Opin. Genet. Dev. 7, 99-104.
23. Lieber, M.R., Hesse, J.E., Lewis, S., Bosma, G.G., Rosenberg, N., Mizuuchi, K., Bosma, M.J., and 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.
24. Lindahl, T. (1992). Mammalian DNA ligases. Annu. Rev. Biochem. 61, 251-281.
25. Maxwell, F., Maxwell, I.H., and Glode, L.M. (1987).Cloning, sequence determination, and expression in transfected cells of the coding sequence for the tax 176 attenuated diphtheria toxin A chain. Mol. Cell. Biol. 7, 1576-1579.
26. Nussenzweig, A., Chen, C., da Costa Soares, V., Sanchez, M., Sokol, K., Nussenzweig, M.C., and Li, G.G. (1996). Requirement for Ku80 in growth and immunoglobulin V(D)J recombination. Nature 382, 551-555.
27. Ouyang, H., Nussenzweig, A., Kurimasa, A., da Costa Soares, V., Li, X., Cordon-Cardo, C., Li, W.H., Cheong, N., Nussenzweig, M., Iliakis, G., et al. (1997). Ku70 is required for DNA repair but not for T cell antigen receptor recombination in vivo. J. Exp. Med. 186, 921-929.
28. Peterson, S.R., Kurimasa, A., Oshimura, M., Dynan, W.S., Bradbury, E.M., and Chen, D.J. (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.
29. Ramsden, D.A., Paull, TT., and Gellert, M. (1997). Cell-free V(D)J recombination. Nature 388, 488-491.
30. Robins, P., and Lindahl, T. (1996). DNA ligase IV from HeLa cell nuclei. J. Biol. Chem. 271, 24257-24261.
31. Sadofsky, M.J., Hesse, J.E., and Gellert, M. (1994). Definition of a core region of RAG-2 that is functional in V(D)J recombination. Nucleic Acids Res. 22, 1805-1809.
32. Sadofsky, M., Hesse, J.E., van Gent, D.C., and Gellert, M. (1995). RAG-1 mutations that affect the target specificity of V(D)J recombination: a possible direct role of RAG-1 in site recognition. Genes Dev. 9, 2193-2199.
33. Sargent, R.G., Brenneman, M.A., and Wilson, J.H. (1997). Repair of site-specific double-strand breaks in a mammalian chromosome by homologous and illegitimate recombination. Mol. Cell. Biol. 17, 267-277.
34. Schär, P., Hermann, G., Daly, G., and 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.
35. Schatz, D.G. (1997). V(D)J recombination moves in vitro. Semin, Immunol. 9, 149-159.
36. Sonoda, E., Sasaki, M.S., Buerstedde, J.M., Bezzubova, O., Shinohara, A., Ogawa, H., Takata, M., Yamaguchi-Iwai, Y., and Takeda, S. (1998). Rad51-deficient vertebrate cells accumulate chromosomal breaks prior to cell death. EMBO J. 17, 598-608.
37. Teo, S.H., and Jackson, S.P. (1997). Identification of Saccharomyces cerevisiae DNA ligase IV: involvement in DNA double-strand break repair. EMBO J. 16, 4788-795.
38. Tomkinson, A.E., and Levin, D.S. (1997). Mammalian DNA ligases. Bioessays 19, 893-901.
39. Wei, Y.F., Robins, P., Carter, K., Caldecott, K., Pappin, D.J.C., Yu, G.L, Wang, R.P., Shell, B.K., Nash, R.A., Schär, P., et al. (1995). Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination. Mol. Cell. Biol. 15, 3206-3216.
40. West, R.B., Yaneva, M., and Lieber, M.R. (1998). Productive and nonproductive complexes of Ku and DNA-PK at DNA termini. Mol. Cell. Biol. 18, 5908-5920.
41. Wilson, I.E., Grawunder, U., and Lieber, M.R. (1997). Yeast DNA ligase IV mediates non-homologous DNA end joining. Nature 388, 495-498.
42. Zhu, C., Bogue, M.A., Lim, D.S., Hasty, P., and Roth, D.B. (1996). Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates. Cell 86, 379-389.