Ellis-van Creveld 症候群の原因遺伝子である Evc と Lbn の頸骨における発現について

Ellis-van Creveld (Evc) syndrome is an autosomal recessive chondrodysplasia characterized by disproportionate dwarfism, postaxial polydactyly, natal teeth and dysplatic nails. Ellis-van Creveld (EVC) gene, which is mutated in patients with Evc syndrome, has recently been identified by positional cloning. LIMBIN(LBN), responsible for bovine chondrodysplastic dwarfism, is also mutated in patients with Evc syndrome. However, the physiological role of EVC and LBN have not been elucidated. To assess the role of Evc and Lbn in the rat tibia were most abundant at embryonic day 1, 28 and 56. The analysis by in situ hybridization revealed that the Evc was expressed mainly in prehypertrophic and hypertrophic chondrocytes in the rat tibial growth plate at postnatal stage. Lbn was detected strongly in proliferative chodnrocyte and moderately in prehypertrophic chondrocytes. These profiles of Evc and Lbn expression reflected the abnormalities in chondrocytes of patients with Evc syndrome. Our results suggest that Evc and Lbn may affect chondrocyte differentiation and proliferation in endochondral ossification, respectively.