Analysis of the molecular networks involved in primary cilium formation

摘要

To identify functional interactions among some importantciliopathy genes, we carried out searches related to genesrepresentative of important ciliopathies, such as Bardet-Biedl syndrome (BBS), nephronophthisis, and oro-facialdigitalsyndrome type 1. We built a functional interactionnetwork for the identification of conserved componentsthat might regulate ciliary trafficking, and thus provideinsight into the mechanisms of polycystic kidney disease.By mining the published protein-protein interaction data,we identified an interesting association between the exocystcomplex (involved in targeting of post-Golgi vesicles to theplasma membrane), the BBSome (a multisubunit proteincomplex involved in the transport of cargo to the cilium),centriolar satellites, the centrosome and the Golgi complex.In addition, this analysis led us to the identification of anew centrosomal protein of previously undefined functioninvolved in cilium formation. We are now investigatingthe molecular function of this protein, as it interacts physicallyand functionally with OFD1, a gene associated withciliopathies.