[HTML][HTML] Artemis, a novel DNA double-strand break repair/V (D) J recombination protein, is mutated in human severe combined immune deficiency

D Moshous, I Callebaut, R De Chasseval, B Corneo… - Cell, 2001 - cell.com
D Moshous, I Callebaut, R De Chasseval, B Corneo, M Cavazzana-Calvo, F Le Deist…
Cell, 2001cell.com
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 TB-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 …
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-β-lactamase superfamily.
cell.com