Title of article :
Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency
Author/Authors :
Despina Moshous، نويسنده , , Isabelle Callebaut، نويسنده , , Regina de Chasseval، نويسنده , , Barbara Corneo، نويسنده , , Marina Cavazzana-Calvo، نويسنده , , Françoise Le Deist، نويسنده , , Ilhan Tezcan، نويسنده , , Ozden Sanal، نويسنده , , Michel Renovell
Florence Azais
Yves Bertrand
، نويسنده , , Noel Philippe، نويسنده , , Alain Fischer، نويسنده , , Jean-Pierre de Villartay، نويسنده ,
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.
