Targeted disruption of the artemis murine counterpart results in SCID and defective V(D)J recombination that is partially corrected with bone marrow transplantation

Journal of Immunology

Volumn 174, Issue 4, 2005, Pages 2420-2428

  Li, Lanying ^a   Salido, Eduardo ^a   Zhou, Yungui ^a   Bhattacharyya, Swati ^a   Yannone, Steven M ^d   Dunn, Elizabeth ^a   Meneses, Juanito ^b   Feeney, Ann J ^c   Cowan, Morton J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c SCRIPPS RESEARCH INSTITUTE   (United States)

^d LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA; NUCLEAR PROTEIN; PROTEIN ARTEMIS; RECOMBINASE; UNCLASSIFIED DRUG;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; AMERICAN INDIAN; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; B LYMPHOCYTE; BONE MARROW TRANSPLANTATION; CELL DISRUPTION; CELL PROLIFERATION; COMBINED IMMUNODEFICIENCY; DNA REPAIR; FIBROBLAST; GENE DISRUPTION; GENE TARGETING; GENETIC RECOMBINATION; HEMATOPOIETIC STEM CELL; IMMUNE DEFICIENCY; IONIZING RADIATION; MISMATCH REPAIR; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RADIOSENSITIVITY; SIGNAL TRANSDUCTION;

EID: 13544259957     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: 10.4049/jimmunol.174.4.2420     Document Type: Article

References (26)

1. Grawunder, U., R. B. West, and M. R. Lieber. 1998. Antigen receptor gene rearrangement. Curr. Opin. Immunol. 10:172.
2. Bassing, C. H., W. Swat, and F. W. 2002. Alt: the mechanism and regulation of chromosomal V(D)J recombination. Cell 109:545.
3. Lewis, S. M. 1994. The mechanism of V(D)J joining: lessons from molecular, immunological and comparative analyses. Adv. Immunol. 56:27.
4. Taccioli, G. E., A. G. Amatucci, H. J. Beamish, D. Gell, X. H. Xiang, M. I. T. Arzayus, A. Priestley, S. P. Jackson, A. M. Rothstein, P. A. Jeggo, and V. L. M. Herrera. 1998. Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivity. Immunity 9:355.
5. Ma, Y., U. Pannicke, K. Schwarz, and M. R. Lieber. 2002. Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell 108:781.
6. Featherstone, C., and S. P. Jackson. 1999. Ku, A DNA repair protein with multiple cellular functions. Mutat. Res. 434:3.
7. Zhu, C., M. A. Bogue, D.-S. Lim, P. Hasty, and D. B. Roth. 1996. Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates. Cell 86:379.
8. Ouyang, H., A. Nussenzweig, A. Kurimasa, V. da Costa Soares, X. Li, C. Cordon-Cardo, W. H. Li, N. Cheong, M. Nussenzweig, G. Iliakis. et al. 1997. Ku70 is required for DNA repair but not for T cell antigen receptor recombination in vivo. J. Exp. Med. 186:921.
9. Grawunder, U., D. Zimmer, P. Kulesza, and M. R. Lieber. 1998. Requirement for an interaction of XRCC4 with DNA ligase IV for wild-type V(D)J recombination and DNA double-strand break repair in vitro. J. Biol. Chem. 273:24708.
10. Moushous, D., I. Callebaut, R. de Chasseval, B. Corneo, M. Cavazzana-Calvo, F. le Deist, I. Tezczn, O. Sanal, Y. Bertrand, N. Philippe, 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.
11. Li, L., D. Moshous, Y. Zhou, J. Wang, G. Xie, E. Salido, D. Hu, J. P. de Villartay, and M. J. Cowan. 2002. A founder mutation in Artemis causes severe combined immunodeficiency disease in Athabascan-speaking Native Americans. J. Immunol. 168:6323.
12. Moshous, D., L. Li, R. de Chasseval, N. Philippe, N. Jabado, M. J. Cowan, A. Fisher, and J. P. de Villartay. 2000. A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p. Hum. Mol. Genet. 9:583.
13. - severe combined immunodeficiency disease in Athabascan-speaking Native Americans. Bone Marrow Transplant. 27:703.
14. Bertrand, Y., P. Landais, W. Friedrich, B. Gerritsen, G. Morgan, A. Fasth, M. Cavazzana-Calvo, F. Porta, A. Cant, T. Espanol, et al. 1999. Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell-depleted bone marrow transplantation. J. Pediatr. 134:740.
15. Rooney, S., J. Sekeguchi, C. Zhu, H. L. Cheng, J. P. Manis, S. Whitlow, J. DeVido, D. Foy, J. Chaudhuri, D. Lombard, et al. 2002. Leaky scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice. Mol. Cell 10:1379.
16. Rooney, S., F. W. Alt, D. Lombard, S. Whitlow, M. Eckersdorff, J. Fleming, S. Fugmann, D. O. Ferguson, D. G. Schatz, and J. Sekeguchi. 2003. Defective DNA repair and increased genomic instability in Artemis-deficient murine cells. J. Exp. Med. 197:553.
17. Bhattacharyya, S., A. Chawla, K. Smith, Y. Zhou, S. Talib, and M. J. Cowan. 2002. Increased engraftment with minimal graft-vs-host-disease following in utero transplantation of S-59 psoralen/UVA light-treated sensitized T cells and adult T cell depleted bone marrow in fetal mice. J. Immunol. 169:6133.
18. Schlissel, M. S., and D. Baltimore. 1991. Activation of immunoglobulin κ gene rearrangement correlates with induction of germline κ gene transcription. Cell 58:1001.
19. Zhu, C., M. A. Bogure, and D. B. Roth. 1996. Thymocyte differentiation in γ-irradiated severe-combined immunodeficient mice: characterization of intermediates and products of V(D)J recombination at the T cell receptor A locus. Eur. J. Immunol. 26:2859.
20. 2m(null) mice. Leukemia 16:1992.
21. Greiner, D. L., R. A. Hesselton, and L. D. Shultz. 1998. SCID mouse models of human stem cell engraftment. Stem Cells 16:166.
22. Nicolas, N., D. Moshous, M. Cavazzana-Calvo, D. Papadopoulo, R. de Chasseval, F. Le Deist, A. Fischer, and J. P. de Villartay. 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.
23. Dudasova, Z., and M. Chovanec. 2003. Artemis, a novel guardian of the genome. Neoplasma 50:311.
24. Williams, C. J., I. Grandal, D. J. Vesprini, U. Wojtyra, J. Dansda, and C. J. Guidos. 2001. Irradiation promotes V(D)J joining and RAG-dependent neoplastic transformation in SCID T-cell precursors. Mol. Cell. Biol. 21:400.
25. Fish, S. M., and M. J. Bosma. 1994. Abnormal deletions in the T-cell receptor δ locus of mouse thymocytes. Mol. Cell. Biol. 14:4455.
26. Shuler, W., N. R. Ruetsch, M. Amsler, and M. J. Bosma. 1991. Coding joint formation of endogenous T cell receptor genes in lymphoid cells from scid mice: unusual P-nucleotide additions in VJ-coding joints. Eur. J. Immunol. 21:589.