Nature Genetics
37, 803 - 805 (2005)
Published online: 17 July 2005; | doi:10.1038/ng1603
A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouseIsabelle Aubin1, Carolyn P Adams2, Sibylle Opsahl3, Dominique Septier3, Colin E Bishop2, 4, Nathalie Auge5, Robert Salvayre5, Anne Negre-Salvayre5, Michel Goldberg3, Jean-Louis Guénet1
& Christophe Poirier21
Unité de Génétique des Mammifères, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France. 2
Department of Obstetrics and Gynecology, Baylor College of Medicine, 6550 Fannin St., Houston, Texas 77030, USA. 3
Faculté de Chirurgie Dentaire, Paris 5, EA 2496; 1, rue Maurice Arnoux, 92120 Montrouge, France. 4
Department of Molecular and Human Genetics, Baylor College of Medicine, 6550 Fannin St., Houston, Texas 77030, USA. 5
INSERM Unit U-466 and Biochemistry Department, IFR-31, CHU Rangueil, 31059 Toulouse cedex 9, France.
Correspondence should be addressed to Jean-Louis Guénet guenet@pasteur.fr 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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