Ellis-van Creveld (EvC) syndrome causes severe skeletal and craniofacial abnormalities, and Victor Ruiz-Perez, Judith Goodship and colleagues previously cloned two genes - EVC and EVC2 - that underlie this disorder. Now, on , the researchers confirm that Evc ablation in mice results in an EvC-like phenotype and they use this mouse model to determine the molecular and developmental roles of Evc. They show that Evc is expressed in developing bones and in the orofacial region (the mouth and face). Within chondrocytes,the protein is localised to the primary cilium - an organelle that is central to hedgehog (Hh) signalling - which piqued the researchers' interest in Evc's relationship with Indian hedgehog (Ihh), a `master regulator' of bone development. Ihh itself is unaffected in Evc-/- mice, but downstream genes, such as Ptch1 and Gli1, have reduced expression, and the researchers conclude that Evc is required for transducing the Ihh signal. Curiously, Evc-/- mice have normal Gli3 processing. Next, the authors are going to use their model to find out whether other cell lineages rely on Evc for Hh signal transduction.
