16-P005 Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton

We have developed anti-Evc2 antibodies and show that Evc2 and Evc co-localise at the basal body and also in primary cilia. In transfected cells, basal body and cilia localisation are only observed when Evc and Evc2 constructs are co-transfected but do not occur when either construct is transfected individually indicating that this localisation is co-dependent. Although Evc localises to cilia it is not essential for ciliogenesis; chondrocyte cilia from mice lacking Evc appear structurally normal on transmission electron microscopy. Finally, we have demonstrated that Evc and Evc2 are cilia transmembrane proteins by immunostaining in permeabilised and non-permeabilised cells, the C-terminus for both being intracellular and Evc2, but not Evc, having an extracellular portion.