| First Author | Liang T | Year | 2021 |
| Journal | Sci Rep | Volume | 11 |
| Issue | 1 | Pages | 1132 |
| PubMed ID | 33441959 | Mgi Jnum | J:300674 |
| Mgi Id | MGI:6502261 | Doi | 10.1038/s41598-020-80912-y |
| Citation | Liang T, et al. (2021) Odontogenesis-associated phosphoprotein truncation blocks ameloblast transition into maturation in Odaph(C41*/C41*) mice. Sci Rep 11(1):1132 |
| abstractText | Mutations of Odontogenesis-Associated Phosphoprotein (ODAPH, OMIM *614829) cause autosomal recessive amelogenesis imperfecta, however, the function of ODAPH during amelogenesis is unknown. Here we characterized normal Odaph expression by in situ hybridization, generated Odaph truncation mice using CRISPR/Cas9 to replace the TGC codon encoding Cys41 into a TGA translation termination codon, and characterized and compared molar and incisor tooth formation in Odaph(+/+), Odaph(+/C41*), and Odaph(C41*/C41*) mice. We also searched genomes to determine when Odaph first appeared phylogenetically. We determined that tooth development in Odaph(+/+) and Odaph(+/C41*) mice was indistinguishable in all respects, so the condition in mice is inherited in a recessive pattern, as it is in humans. Odaph is specifically expressed by ameloblasts starting with the onset of post-secretory transition and continues until mid-maturation. Based upon histological and ultrastructural analyses, we determined that the secretory stage of amelogenesis is not affected in Odaph(C41*/C41*) mice. The enamel layer achieves a normal shape and contour, normal thickness, and normal rod decussation. The fundamental problem in Odaph(C41*/C41*) mice starts during post-secretory transition, which fails to generate maturation stage ameloblasts. At the onset of what should be enamel maturation, a cyst forms that separates flattened ameloblasts from the enamel surface. The maturation stage fails completely. |
