Genetic Regulation of Cilia Assembly and the Relationship to Human Disease

Ciliated cells of the airway are morphologically distinguished by an apical bristle of 200 cilia per cell that sweep the lumen. Simple in concept but biologically complex, these cells have important roles in maintaining airway health, and are also prone to injury and affected by genetic mutation. Substantial progress has recently been made in understanding the molecular and genetic basis of ciliated cell defects. Phenotype dissection of genetically deficient mice has facilitated the recognition that a surprising number of diseases are related to defects in ciliogenesis and ciliated cell function. Notably fueled by these observations is the development of human genetic analysis for two cilia-related diseases: primary ciliary dyskinesia (PCD) and polycystic kidney disease (PKD).