Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.
Cell
; 105(2): 177-86, 2001 Apr 20.
Article
de En
| MEDLINE
| ID: mdl-11336668
ABSTRACT
The V(D)J recombination process insures the somatic diversification of immunoglobulin and antigen T cell receptor encoding genes. This reaction is initiated by a DNA double-strand break (dsb), which is resolved by the ubiquitously expressed DNA repair machinery. Human T-B-severe combined immunodeficiency associated with increased cellular radiosensitivity (RS-SCID) is characterized by a defect in the V(D)J recombination leading to an early arrest of both B and T cell maturation. We previously mapped the disease-related locus to the short arm of chromosome 10. We herein describe the cloning of the gene encoding a novel protein involved in V(D)J recombination/DNA repair, Artemis, whose mutations cause human RS-SCID. Protein sequence analysis strongly suggests that Artemis belongs to the metallo-beta-lactamase superfamily.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Radiotolérance
/
Recombinaison génétique
/
Bêta-Lactamases
/
Protéines nucléaires
/
Lymphocytes B
/
Lymphocytes T
/
Immunodéficience combinée grave
/
Réparation de l'ADN
Limites:
Humans
Langue:
En
Journal:
Cell
Année:
2001
Type de document:
Article
Pays d'affiliation:
France