Bioinformatics Database

Studies in transgenic mice showed that PTHRP, and signaling through the PTH/PTHRP receptor, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth (Wysolmerski et al., 1998; Philbrick et al., 1998). Loss-of-function mutations in the PTHR1 gene result in a rare, lethal form of dwarfism known as Blomstrand chondrodysplasia. Wysolmerski et al. (2001) studied fetuses with Blomstrand chondrodysplasia. The results reported taht the fetuses and developing teeth, but they were severely impacted within the surrounding alveolar bone, leading to distortions in their architecture and orientation. The authors concluded that impairment of the PTHRP/PTHR1 signaling pathway in humans is associated with severe abnormalities in tooth development (Wysolmerski et al., 2001).