par Lausch, Ekkehart;Janecke, Andreas;Bros, Matthias;Trojandt, Stefanie;Alanay, Yasemin;De Laet, Corinne 
;Hübner, Christian C.A.;Meinecke, Peter;Nishimura, Gen;Matsuo, Mari;Hirano, Yoshiko;Tenoutasse, Sylvie ;Kiss, Andrea;MacHado Rosa, Rafael Fabiano;Unger, Sharon S.L.;Renella, Raffaele;Bonafé, Luisa;Spranger, Jürgen;Unger, Sheila;Zabel, Bernhard;Superti-Furga, Andrea
Référence Nature genetics, 43, 2, page (132-137)
Publication Publié, 2011-02
;Hübner, Christian C.A.;Meinecke, Peter;Nishimura, Gen;Matsuo, Mari;Hirano, Yoshiko;Tenoutasse, Sylvie ;Kiss, Andrea;MacHado Rosa, Rafael Fabiano;Unger, Sharon S.L.;Renella, Raffaele;Bonafé, Luisa;Spranger, Jürgen;Unger, Sheila;Zabel, Bernhard;Superti-Furga, AndreaRéférence Nature genetics, 43, 2, page (132-137)
Publication Publié, 2011-02
Article révisé par les pairs
| Résumé : | Vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases are the hallmarks of the genetic disorder spondyloenchondrodysplasia. We mapped a locus in five consanguineous families to chromosome 19p13 and identified mutations in ACP5, which encodes tartrate-resistant phosphatase (TRAP), in 14 affected individuals and showed that these mutations abolish enzyme function in the serum and cells of affected individuals. Phosphorylated osteopontin, a protein involved in bone reabsorption and in immune regulation, accumulates in serum, urine and cells cultured from TRAP-deficient individuals. Case-derived dendritic cells exhibit an altered cytokine profile and are more potent than matched control cells in stimulating allogeneic T cell proliferation in mixed lymphocyte reactions. These findings shed new light on the role of osteopontin and its regulation by TRAP in the pathogenesis of common autoimmune disorders. © 2011 Nature America, Inc. All rights reserved. |
