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Planar Cell Polarity, Ciliogenesis, and Human Disease
Author(s) -
Wallingford John
Publication year - 2015
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.29.1_supplement.82.4
Subject(s) - ciliogenesis , cilium , ciliopathies , biology , microbiology and biotechnology , effector , organelle , basal body , cell polarity , cell , computational biology , genetics , phenotype , gene , flagellum
Cilia are are essential organelles and mutations that disrupt cilia structure or function underlie a diverse set of pathological conditions known as ciliopathies. Recent work has suggested that several proteins related to Planar Cell Polarity machinery are involved in ciliogenesis, but their mechanism of action is poorly understood. Here, we will describe a novel protein complex formed by PCP effector proteins and many additional subunits. Combining proteomics, in vivo cell biology, mouse genetics, and experimental analysis of human disease alleles, we establish a hiearchy of action for these proteins and show that the overall complex is required for both basal body docking and recruitment to basal bodies of specific components of the retrograde IFT complex.