Planar cell polarity, cilia, and human disease

摘要

The planar cell polarity (PCP) proteins govern diversecellular behaviors, are essential for embryonic development,and are associated in a variety of human birthdefects, including ciliopathies. While many PCP proteinshave been extensively characterized, the “PCP effector”proteins, Inturned, Fuzzy and Fritz, remain largely unstudied.We have shown that each of these novel proteins isbroadly essential for ciliogenesis in vertebrate animals.Here, we will discuss our efforts to combine bioinformatics,genomics, mouse genetics, and in vivo time-lapseimaging of intraflagellar transport to understand themechanisms by which the PCP proteins govern ciliastructure and function.