Elucidating the function of Bardet-Biedl Syndrome (BBS) proteins in Intraflagellar Transport (IFT)

Cilia are fine, hairlike projections that protrude from most cells of the human body. Many of these cilia perform sensory roles such as detecting light, sensing temperature and perceiving smell. Dysfunction of cilia is implicated in a number of conditions, most notably polycystic kidney disease. The less common Bardet-Biedl Syndrome (BBS) reflects the effects of complete loss of cilia function throughout the body. Patients with this condition suffer from obesity, polydactyly (more than 20 fingers/toes), cystic kidneys, infertility and many other conditions. Analysis of cilia structures in a tiny worm called nematode Caenorhabditis elegans has provided tremendous insight into the function of BBS proteins. Research has revealed that BBS proteins are involved in the process of intraflagellar transport (IFT), the dynamic mechanism through which cilia are built and maintained. An absence of BBS proteins appears to impair cilia function, apparently by causing the IFT machinery to split apart, although other deficiencies are highly likely. Peter Inglis has developed a new approach in studying the interaction of BBS proteins within the IFT complex, focusing on how BBS proteins are involved in the rearrangement of core IFT proteins. He will dissect BBS function and assemble a general model for the role of BBS proteins in IFT. Ultimately, his work promises to shed significant light on a cellular mechanism implicated in a wide variety of human disorders.