A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse.

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.

• Authors: Isabelle Aubin, Carolyn P Adams, Sibylle Opsahl, Dominique Septier, Colin E Bishop, Nathalie Auge, Robert Salvayre, Anne Negre-Salvayre, Michel Goldberg, Jean-Louis Guénet, Christophe Poirier
• Journal: Nature genetics (Nat Genet) Vol. 37 Issue 8 Pg. 803-5 (Aug 2005) ISSN: 1061-4036 [Print] United States
• PMID: 16025116 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Smpd3 protein, mouse
• Sphingomyelin Phosphodiesterase

Topics

• Animals
• Dentinogenesis Imperfecta (enzymology, genetics)
• Gene Deletion
• Mice
• Mice, Mutant Strains
• Mutation
• Osteogenesis Imperfecta (enzymology, genetics)
• Sphingomyelin Phosphodiesterase