dc.contributor.author | Moshous, D | |
dc.contributor.author | Callebaut, I | |
dc.contributor.author | de Chasseval, R | |
dc.contributor.author | Corneo, B | |
dc.contributor.author | Cavazzana-Calvo, M | |
dc.contributor.author | Le Deist, F | |
dc.contributor.author | Tezcan, I | |
dc.contributor.author | Sanal, O | |
dc.contributor.author | Bertrand, Y | |
dc.contributor.author | Philippe, N | |
dc.contributor.author | Fischer, A | |
dc.contributor.author | de Villartay, JP | |
dc.date.accessioned | 2019-12-10T10:34:42Z | |
dc.date.available | 2019-12-10T10:34:42Z | |
dc.date.issued | 2001 | |
dc.identifier.issn | 0092-8674 | |
dc.identifier.uri | https://doi.org/10.1016/S0092-8674(01)00309-9 | |
dc.identifier.uri | http://hdl.handle.net/11655/13789 | |
dc.description.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. | |
dc.language.iso | en | |
dc.publisher | Cell Press | |
dc.relation.isversionof | 10.1016/S0092-8674(01)00309-9 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Biochemistry & Molecular Biology | |
dc.subject | Cell Biology | |
dc.title | Artemis, A Novel Dna Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated In Human Severe Combined Immune Deficiency | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | Cell | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 105 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 177 | |
dc.identifier.endpage | 186 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |