Soundbites.
Dentinogenesis imperfecta (DGI) is characterized by discolored teeth with an opalescent sheen and dentin that fails to support enamel, causing it to easily chip. Two new studies show that DGI is associated with mutations in DSPP, a gene encoding dentin sialophosphoprotein that is processed into two proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). These are key components of the dentin extracellular matrix (DECM). Notably, missense mutations in DSPP are also associated with progressive hearing loss.
Patel
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Department of Neurology, Baylor College of Medicine, Houston, Texas, USA. pragna@bcm.tmc.edu
D003638:Deafness / Q000235:genetics*; D003811:Dentinogenesis Imperfecta / Q000209:etiology / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D006801:Humans; D009805:Odontogenesis / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics* / Q000378:metabolism; D011498:Protein Precursors / Q000235:genetics* / Q000378:metabolism; D011499:Protein Processing, Post-Translational; D012795:Sialoglycoproteins / Q000235:genetics* / Q000378:metabolism; D000099311:Dentin Sialophosphoprotein
D016326:Extracellular Matrix Proteins; D010750:Phosphoproteins; D011498:Protein Precursors; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein; C017630:phosphophoryn