A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse |
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Authors: | Aubin Isabelle Adams Carolyn P Opsahl Sibylle Septier Dominique Bishop Colin E Auge Nathalie Salvayre Robert Negre-Salvayre Anne Goldberg Michel Guénet Jean-Louis Poirier Christophe |
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Affiliation: | Unité de Génétique des Mammifères, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France. |
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Abstract: | The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice and provides new insight into human pathologies. |
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