The V(D)J recombination/DNA repair factor artemis belongs to the metallo-β-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system

Annals of the New York Academy of Sciences

Volumn 987, Issue , 2003, Pages 150-157

  Moshous, Despina ^a   Callebaut, Isabelle ^b   De Chasseval, Régina ^a   Poinsignon, Catherine ^a   Villey, Isabelle ^a   Fischer, Alain ^a   De Villartay, Jean Pierre ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b SORBONNE UNIVERSITÉ   (France)

Author keywords

Artemis gene; Metallo lactamase family; V(D)J recombination

Indexed keywords

ARTEMIS ENZYME; BETA LACTAMASE; NUCLEIC ACID; RAG1 PROTEIN; RAG2 PROTEIN; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

B CELL LYMPHOMA; B LYMPHOCYTE; CELL NUCLEUS; CELLULAR IMMUNITY; COMBINED IMMUNODEFICIENCY; CONFERENCE PAPER; DNA RECOMBINATION; DNA REPAIR; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; HUMAN; HUMORAL IMMUNITY; IMMUNE DEFICIENCY; IMMUNE SYSTEM; IONIZING RADIATION; LYMPHATIC SYSTEM; LYMPHOCYTE COUNT; MOLECULAR CLONING; NONHUMAN; PROTEIN DOMAIN; PROTEIN FAMILY; PROTEIN FUNCTION; SCID MOUSE; T LYMPHOCYTE;

ANIMALIA;

EID: 0037565312     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2003.tb06043.x     Document Type: Conference Paper

References (41)

1. TONEGAWA, S. 1983. Somatic generation of antibody diversity. Nature 302: 575-581.
2. SCHATZ, D.G. et al. 1989. The V(D)J recombination activating gene, RAG-1. Cell 59: 1035-1048.
3. OETTINGER, M.A., D.G. SCHATZ, C. GORKA & D. BALTIMORE. 1990. RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination. Science 248: 1517-1523.
4. HABER, J.E. 2000. Partners and pathways repairing a double-strand break. Trends Genet. 16: 259-264.
5. JACKSON, S.P. & P.A. JEGGO. 1995. DNA double-strand break repair and V(D)J recombination: involvement of DNA-PK. Trends Biochem. Sci. 20: 412-415.
6. LI, Z.Y. et al. 1995. The Xrcc4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination. Cell 83: 1079-1089.
7. ROBINS, P. & T. LINDAHL. 1996. DNA ligase IV from HeLa cell nuclei. J. Biol. Chem. 271: 24257-24261.
8. MOMBAERTS, P. et al. 1992. RAG-1 deficient mice have no mature B and T lymphocytes. Cell 68: 869-877.
9. SHINKAI, Y. et al. 1992. RAG-2 deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement. Cell 68: 855-867.
10. ZHU, C. et al. 1996. Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates. Cell 86: 379-389.
11. NUSSENZWEIG, A. et al. 1996. Requirement for Ku80 in growth and immunoglobulin V(D)J recombination. Nature 382: 551-555.
12. JHAPPAN, C. et al. 1997. DNA-PKcs: a T-cell tumour suppressor encoded at the mouse SCID locus. Nat. Genet. 17: 483-486.
13. GAO, Y. et al. 1998. A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for KU in V(D)J recombination. Immunity 9: 367-376.
14. TACCIOLI, G.E. et al. 1998. Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivity. Immunity 9: 355-366.
15. SHIN, E.K. et al. 1997. A kinase-negative mutation of DNA-PKcs in equine SCID results in defective coding and signal joint formation. J. Immunol. 158: 3565-3569.
16. FRANK, K.M. et al. 1998. Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV. Nature 396: 173-177.
17. GAO, Y. et al. 1998. A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell 95: 891-902.
18. BARNES, D.E. et al. 1998. Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice. Curr. Biol. 31: 1395-1398.
19. FISCHER, A. et al. 1997. Naturally occurring primary deficiencies of the immune system. Annu. Rev. Immunol. 15: 93-124.
20. SCHWARZ, K. et al. 1996. RAG mutations in human B cell-negative SCID. Science 274: 97-99.
21. CORNEO, B. et al. 2000. 3D clustering of human RAG2 gene mutations in severe combined immune deficiency (SCID). J. Biol. Chem. 275: 12672-12675.
22. VILLA, A. et al. 2001. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood 97: 81-88.
23. CAVAZZANA-CALVO, M. et al. 1993. Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency. J. Clin. Invest. 91: 1214-1218.
24. NICOLAS, N. et al. 1998. A human 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: 627-634.
25. MOSHOUS, D. 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: 177-186.
26. WANG, Z. et al. 1999. Metallo-beta-lactamase: structure and mechanism. Curr. Opin. Chem. Biol. 3: 614-622.
27. ARAVIND, L. 1997. An evolutionary classification of the metallo-β-lactamase fold. In Silico Biology 1: 69-91.
28. DAIYASU, H. et al. 2001. Expansion of the zinc metallo-hydrolase family of the beta-lactamase fold. FEBS Lett. 503: 1-6.
29. CARNEY, J.P. et al. 1998. The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93: 477-486.
30. VARON, R. et al. 1998. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93: 467-476.
31. CHEN, H.T. et al. 2000. Response to RAG-mediated V(D)J cleavage by NBS1 and gamma-H2AX. Science 290: 1962-1965.
32. YARNELL SCHULTZ, H. et al. 2001. Joining-deficient RAG1 mutants block V(D)J recombination in vivo and hairpin opening in vitro. Mol. Cell 7: 65-75.
33. QIU, J.X. et al. 2001. Separation-of-function mutants reveal critical roles for RAG2 in both the cleavage and joining steps of V(D)J recombination. Mol. Cell 7: 77-87.
34. SHOCKETT, P.E. & D.G. SCHATZ. 1999. DNA hairpin opening mediated by the RAG1 and RAG2 proteins. Mol. Cell. Biol. 19: 4159-4166.
35. BESMER, E. et al. 1998. Hairpin coding end opening is mediated by RAG1 and RAG2 proteins. Mol. Cell 2: 817-828.
36. ROTH, D.B. & M. GELLERT. 2000. New guardians of the genome. Nature 404: 823-825.
37. MA, Y. et al. 2002. Hairpin opening and overhang processing by an Artemis/DNA-dependant protein kinase complex in nonhomologous end joining and V(D)J recombination. Cell 108: 781-794.
38. SHILOH, Y. 1997. Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. Annu. Rev. Genet. 31: 635-662.
39. O'DRISCOLL, M. et al. 2001. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol. Cell 8: 1175-1185.
40. FERGUSON, D.O. & F.W. ALT. 2001. DNA double strand break repair and chromosomal translocation: lessons from animal models. Oncogene 20: 5572-5579.
41. KINZLER K.W. & B. Vogelstein. 1997. Cancer-susceptibility genes: gatekeepers and caretakers. Nature 386: 761-763.