ProfessorOliver Blacque

Primary cilia: understanding the molecular basis of their assembly, function, and links to human disease Cilia are motile or non-motile microtubule-based cell appendages found throughout the animal kingdom. Motile cilia typically move fluids and are found on the surface of unicellular ciliates, as well as on cells of higher organisms such as mammalian spermatozoa and respiratory tract epithelial cells. Non-motile cilia, or primary cilia, are also widely distributed, being found on many mammalian cell types, including kidney epithelial cells and photoreceptor cells (Fig. 1). Primary cilia possess important sensory roles (e.g., olfaction, chemoreception, mechanosensation, and photoreception) and defects in these functions can lead to human ailments such as cystic kidney disease, retinal dystrophy, bone abnormalities, organ laterality defects and phenotypically complex disorders such as Bardet-Biedl syndrome (BBS). Most of the molecular processes and pathways underlying primary cilia function are poorly understood. This is perhaps not surprising, given that until recently, some believed primary cilia to be vestigial organelles. We now know that primary cilia play important roles in sensing the local cellular environment via a battery of ion channels, receptors and signaling molecules. The implications of these findings are broad and will likely impact many different signalling and developmental pathways. Primary cilia research is now a rapidly expanding field and based on recent findings, it promises to uncover many novel and exciting aspects of cell biology. In our laboratory we use the nematode Caenorhabditis elegans to dissect the molecular basis of various aspects of cilia biology. Through powerful genetics and cell biology experimental tools, worms are excellent animal models for cilia research. Current ongoing projects in the lab include: (1) uncovering the functions of novel candidate cilia-related and cilia disease genes, (2) deciphering protein and membrane targetting to cilia, and (3) investigating the molecular basis of intraflagellar transport.