Ciliary (Dys)function in Human Disease: Mapping the Ciliogenesis Pathway

Abstract

The centrosome coordinates formation of the microtubule network, a key component of the mammalian cytoskeleton. Aside from its supporting role in separating genetic material during cell division, the centrosome facilitates the formation of cilia (ciliogenesis) in non-dividing and differentiated cells. Cilia may be motile or non-motile, participating in a range of physiological activities including mucociliary transport, hearing, vision and kidney filtration processes. Ciliopathies occur when cells fail to undergo ciliogenesis or when cilia are improperly formed, affecting all of these functions to varying degrees. While there is increasing emphasis on the genetic factors contributing to these ciliopathies, many proteins involved in the cilia formation program remain elusive. The use of gene knockdown and functional assays are indispensable tools in determining how various proteins contribute to the onset of ciliopathies, ultimately laying the foundation for the development of future gene- and drug-therapy options.