The Function Of EVC2 In Early Embryo Development

Ellis-van Creveld syndrome (EvC syndrome), also known as chondroectodermal dysplasia, is an autosomal recessive disorder characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals. EVC2 (limbin, LBN) is an integral membrane protein that plays a vital role in normal growth and development. It is active in several organs and tissues before birth, including the heart, lungs, liver, kidneys, pancreas, and muscles used for movement (skeletal muscles). Defects in EVC2 or EVC are a cause of EvC syndrome and Weyers acrofacial dysostosis (WAD). WAD also known as Curry-Hall syndrome, is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype of WAD is very similar to EvC syndrome but milder than EvC syndrome. So far, the mechanism how EVC2 mutants cause diseases is still unknown.Chick embryo as a classic biological model is often used to study the gene functions in the developmental processes. It is characterized by a short experimental period, low cost, and especially convenience for micro-surgery operation in vitro, which other models do not have. In the present study we investigated the function and mechanism of EVC2 in early embryo development using early chick embryo as an in vivo model. At first we detected the expression pattern of EVC2 in early chick embryos using in situ hybridization. And then we found a group of cells which co-expressed EVC2 and AP-2αin dorsal hindbrain by using fluorescence in situ hybridization and immunofluoresence. AP-2αis one kind of cranial neural crest cell markers. To study the effect of EVC2 on cranial neural crest cells in detail we employed electroporation to overexpress or knockdown EVC2. At last, we expressed EVC2 protein to find the target molecular of EVC2 via CO-IP.In summary, we revealed that EVC2 plays an important role in early embryo development by affecting the migration of cranial neural crest cells. This finding will broaden our understanding of the mechanism how EVC2 mutants cause diseases, and help us to find the way for preventing and curing EvC syndrome and WAD. Conclusions: EVC2 plays an important role in early embryo development by affecting the migration of cranial neural crest cells.