Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency

Journal of Biological Chemistry

Volumn 275, Issue 17, 2000, Pages 12672-12675

  Corneo, Barbara ^a   Moshous, Despina ^a   Callebaut, Isabelle ^b   De Chasseval, Régina ^a   Fischer, Alain ^a   De Villartay, Jean Pierre ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PIERRE ET MARIE CURIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA; IMMUNOGLOBULIN; SOLVENT;

ARTICLE; B LYMPHOCYTE; CASE REPORT; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; DNA STRAND BREAKAGE; GENE CLUSTER; GENE INACTIVATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; IMMUNOGLOBULIN GENE; IMMUNOGLOBULIN STRUCTURE; PRIORITY JOURNAL; T LYMPHOCYTE;

AMINO ACID SEQUENCE; BLOTTING, WESTERN; CELL LINE, TRANSFORMED; CLONING, MOLECULAR; DNA NUCLEOTIDYLTRANSFERASES; DNA-BINDING PROTEINS; FIBROBLASTS; GENES, RAG-1; HELA CELLS; HOMEODOMAIN PROTEINS; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MULTIGENE FAMILY; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RECOMBINATION, GENETIC; SEQUENCE ANALYSIS, DNA; SEVERE COMBINED IMMUNODEFICIENCY; VDJ RECOMBINASES;

EID: 0034724676     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.275.17.12672     Document Type: Article

References (20)

1. Grawunder, U., West, R. B., and Lieber, M. R. (1998) Curr. Opin. Immunol. 10, 172-180
2. Schatz, D. G. (1997) Semin. Immunol. 9, 149-159
3. Ramsden, D. A., Vangent, D. C., and Gellert, M. (1997) Curr. Opin. Immunol. 9, 114-120
4. Jackson, S. P., and Jeggo, P. A. (1995) Trends Biochem. Sci. 20, 412-415
5. Shinkai, Y., Rathbun, G., Lam, K. P., Oltz, E. M., Stewart, V., Mendelsohn, M., Charron, J., Datta, M., Young, F., Stall, A. M., Alt, F. W. (1992) Cell 68, 855-867
6. Mombaerts, P., Iacomini, J., Johnson, R. S., Herrup, K., Tonegawa, S., Papaionnou, V. E. (1992) Cell 68, 869-877
7. Fischer, A., Cavazzana-Calvo, M., de Saint Basile, G., de Villartay, J. P., Di Santo, J. P., Hivroz, C., Rieux-Laucat, F., and Le Deist, F. (1997) Annu. Rev. Immunol. 15, 93-124
8. Schwarz, K., Gauss, G. H., Ludwig, L., Pannicke, U., Li, Z., Lindner, D., Friedrich, W., Seger, R. A., Hansenhagge, T. E., Desiderio, S., Lieber, M. R., and Bartram, C. R. (1996) Science 274, 97-99
9. Nicolas, N., Moshous, D., Papadopoulo, D., Cavazzana-Calvo, M., de Chasseval. R., le Deist, F., Fischer, A., and de Villartay, J. P. (1998) J. Exp. Med. 188, 627-634
10. Nicolas, N., Finnie, N. J., Cavazzana-Calvo, M., Papadopoulo, D., Le Deist, F., Fischer, A., Jackson, S. P., and de Villartay, J. P. (1996) Eur. J. Immunol. 26, 1118-1122
11. Cavazzana-Calvo, M., Le Deist, F., de Saint Basile, G., Papadopoulo, D., de Villartay, J. P., and Fischer, A. (1993) J. Clin. Invest. 91, 1214-1218
12. Villa, A., Santagata, S., Bozzi, F., Giliani, S., Frattini, A., Imberti, L., Gatta, L. B., Ochs, H. D., Schwarz, K., Notarangelo, L. D., Vezzoni, P., and Spanopoulou, E. (1998) Cell 93, 885-896
13. Rieux-Laucat, F., Bahadoran, P., Brousse, N., Selz, F., Fischer, A., Le Deist, F., and de Villartay, J. P. (1998) J. Clin. Invest. 102, 312-321
14. Ichihara, Y., Hirai, M., and Kurosawa, Y. (1992) Immunol. Lett. 33, 277-284
15. Callebaut, I., and Mornon, J. P. (1998) Cell Mol. Life Sci. 54, 880-891
16. Sali, A., Potterton, L., Yuan, F., van Vlijmen, H., and Karplus, M. (1995) Proteins 23, 318-326
17. Akamatsu, Y., and Oettinger, M. A. (1998) Mol. Cell. Biol. 18, 4670-4678
18. Mo, X., Bailin, T., and Sadofsky, M. J. (1999) J. Biol. Chem. 274, 7025-7031
19. Swanson, P. C., and Desiderio, S. (1999) Mol. Cell. Biol. 19, 3674-3683
20. Aravind, L., and Koonin, E. V. (1999) J. Mol. Biol. 287, 1023-1040