Damaging-agent sensitivity of Artemis-deficient cell lines

European Journal of Immunology

Volumn 35, Issue 4, 2005, Pages 1250-1256

  Musio, Antonio ^a   Marrella, Veronica ^a   Sobacchi, Cristina ^a   Rucci, Francesca ^a   Fariselli, Laura ^b   Giliani, Silvia ^c   Lanzi, Gaetana ^c   Notarangelo, Luigi D ^c   Delia, Domenico ^d   Colombo, Roberto ^e   Vezzoni, Paolo ^a   Villa, Anna ^a  

^a CNR   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF BRESCIA   (Italy)

^d NATIONAL CANCER INSTITUTE   (Italy)

^e UNIVERSITÀ CATTOLICA DEL SACRO CUORE   (Italy)

Author keywords

Artemis; Cisplatin; Interstrand cross link; Mitomycin C; Molecular biology

Indexed keywords

DOUBLE STRANDED DNA; MITOMYCIN C; RAG1 PROTEIN; RAG2 PROTEIN;

ANIMAL CELL; ARTICLE; B LYMPHOCYTE; CARCINOGENESIS; CASE REPORT; CELL LINE; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; DATA ANALYSIS; DNA REPAIR; DNA STRAND BREAKAGE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC RECOMBINATION; GENETIC VARIABILITY; GENOMIC INSTABILITY; HUMAN; HUMAN CELL; INFANT; IONIZING RADIATION; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; NULL ALLELE; PRIORITY JOURNAL; PROTEIN DEGRADATION; RADIOSENSITIVITY; T LYMPHOCYTE;

ANIMALS; DNA DAMAGE; GENOMIC INSTABILITY; HUMANS; MICE; MUTAGENS; NUCLEAR PROTEINS; RADIATION TOLERANCE;

EID: 20244376003     PISSN: 00142980     EISSN: None     Source Type: Journal    
DOI: 10.1002/eji.200425555     Document Type: Article

References (19)

1. Schwarz, K., Gauss, G., Ludwing, L., Pannicke, U., Li, Z., Lindner, D., Friedrich, W., Seger, R. A., Hansen-Hagge, T. E., Desiderio, S. et al., RAG mutations in human B cell negative SCID. Science 1996. 274: 97-99.
2. Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, M., Brooks, E. G., Conley, M. E. et al., V(D)J recombination defects in lymphocytes due to RAG mutations: a severe immunodeficiency with a spectrum of clinical presentations. Blood 2001. 97: 81-88.
3. - severe combined immune deficiency or Omenn syndrome. Blood 2001. 97: 2772-2776.
4. Jhappan, C., Morse, H. C., Fleischmann, R. D., Gottesman, M. M. and Merlino, G., DNA-PKcs: a T-cell tumor suppresssor encoded at the mouse scid. Nat. Genet. 1997. 17: 483-486.
5. 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., Growth retardation and leaky SCID phenotype of Ku70-deficient mice. Immunity 1997. 7: 653-665.
6. Riballo, E., Critchlow, S. E., Teo, S. H., Doherty, A. J., Priestley, A., Broughton, B., Kysela, B., Beamish, H., Plowman, N., Arlett, C. F. et al., Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr. Biol. 1999. 9: 699-702.
7. Moshous, D., Pannetier, C., Chasseval, R., Le Deist, F., Cavazzana-Calvo, M., Romana, S., Macintyre, E., Canioni, D., Brousse, N., Fischer, A. et al., Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J. Clin. Invest. 2003. 111: 381-387.
8. Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B., Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O., Bertrand, Y., Philippe, N. et al., Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 2001. 105: 177-186.
9. Ma, Y., Pannicke, U., Schwarz, K. and Lieber, M. R., Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell 2002. 108: 781-794.
10. Rooney, S., Sekiguchi, J., Zhu, C., Cheng, H. L., Manis, J., Whitlow, S., DeVido, J., Foy, D., Chaudhuri, J., Lombard, D. and Alt, F., Scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice. Mol. Cell 2002. 10: 1379-1390.
11. Rooney, S., Alt, F. W., Lombard, D., Whitlow, S., Eckersdorff, M., Fleming, J., Fugmann, S., Ferguson, D. O., Schatz, D. G. and Sekiguchi, J., Defective DNA repair and increased genomic instability in Artemis-deficient murine cells. J. Exp. Med. 2003. 197: 553-565.
12. Pannicke, U., Ma, Y., Hopfner, K. P., Niewolik, D., Lieber, M. R. and Schwarz, K., Functional and biochemical dissection of the structure-specific nuclease ARTEMIS. EMBO J 2004. 23: 1987-1997.
13. Poinsignon, C., Moshous, D., Callebaut, I., De Chasseval, R., Villey, I. and De Villartay, J. P., The metallo-{beta}-lactamase/{beta}-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination. J. Exp. Med. 2004. 199: 315-321.
14. Nicolas, N., Moshous, D., Cavazzana-Calvo, M., Papadopoulo, D., de Chasseval, R., Le Deist, F., Fischer, A. and de Villartay, J. P., 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 1998. 188: 627-634.
15. Li, L., Moshous, D., Zhou, Y., Wang, J., Xie, G., Salido, E., Hu, D., de Villartay, J. P. and Cowan, M. J., A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J. Immunol 2002. 168: 6323-6229.
16. Callebaut, I., Moshous, D., Mornon, J. P. and de Villartay, J. P., Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family. Nucleic Acids Res. 2002. 30: 3592-3601.
17. Dronkert, M. L., de Wit, J., Boeve, M., Vasconcelos, M. L., van Steeg, H., Tan, T. L., Hoeijmakers, J. H. and Kanaar, R., Disruption of mouse SNM1 causes increased sensitivity to the DNA interstrand cross-linking agent mitomycin C. Mol. Cell. Biol. 2000. 20: 4553-4561.
18. Khanna, K. K. and Jackson, S. P. DNA double-strand breaks: signaling, repair and the cancer connection. Nat. Genet. 2001. 27: 247-254.
19. Santagata, S., Carlos, A., Sobacchi, C., Bozzi, F., Abinun, M., Pasic, S., Cortes, P., Vezzoni, P. and Villa, A., N-terminal RAG1 frame shift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. Proc. Natl. Acad. Sci. USA 2000. 97: 14572-14577.