Odontogenesis-associated phosphoprotein truncation blocks ameloblast transition into maturation in Odaph C41*/C41* mice

摘要: Mutations of Odontogenesis-Associated Phosphoprotein (ODAPH, OMIM *614829) cause autosomal recessive amelogenesis imperfecta, however, the function ODAPH during is unknown. Here we characterized normal Odaph expression by in situ hybridization, generated truncation mice using CRISPR/Cas9 to replace TGC codon encoding Cys41 into a TGA translation termination codon, and compared molar incisor tooth formation Odaph+/+, Odaph+/C41*, OdaphC41*/C41* mice. We also searched genomes determine when first appeared phylogenetically. determined that development Odaph+/+ Odaph+/C41* was indistinguishable all respects, so condition inherited pattern, as it humans. specifically expressed ameloblasts starting with onset post-secretory transition continues until mid-maturation. Based upon histological ultrastructural analyses, secretory stage not affected The enamel layer achieves shape contour, thickness, rod decussation. fundamental problem starts transition, which fails generate maturation ameloblasts. At what should be maturation, cyst forms separates flattened from surface. completely.