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. Author manuscript; available in PMC: 2013 May 1.
Published in final edited form as: N Engl J Med. 2011 Apr 21;364(16):1533–1543. doi: 10.1056/NEJMra1010172

Figure 3. Ciliopathy Proteins and Their Relationships to the Cilium–Centrosome Complex (CCC).

Figure 3

Single-gene ciliopathies are shown, with colors matching the respective gene products located at the CCC machinery. Subcellular components of the CCC can be seen within a ciliated epithelial cell and include polycystin-1 (TRPP1), polycystin-2 (TRPP2), fibrocystin-polyductin (PKHD1), intraflagellar-transport (IFT) cargo, kinesin anterograde motor components (KIF3A), and cytoplasmic dynein (DYNC). Receptors on cilia perceive cell external signals and process them through the Wnt, sonic hedgehog, and focal adhesion signaling pathways. These pathways play a role in planar cell polarity, which is mediated partially through the orientation of centrosomes and the mitotic spindle poles. Depending on the severity of mutations within the same gene (e.g., in nephronophthisis type 6 [NPHP6]), they may act either during morphogenesis to cause a severe, early-onset, developmental disease phenotype (e.g., Meckel’s syndrome) or during tissue maintenance and repair to cause a mild, late-onset, degenerative disease phenotype (e.g., the Senior-Løken syndrome). The numbers in blue circles denote subcellular sites of different nephrocystins (NPHP1, 2, 4, 5, and 7).