Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

Cilia

Table 1 Molecular pathways associated with ciliary pathology in each affected tissue

Organ/tissue/cell type	Signaling/biogenesis pathway(s) Wnt, Shh, PDGF, PCP	Reviews and other references
Retina – photoreceptors	Ciliogenesis and transport	[32, 33][34]
Cognition – brain	GPCR trafficking to neuron cilia	[35, 36] JBTS: [37][38, 39]
Cerebellum – granule cells?	IFT, Wnt, Shh	[40–42]
Kidney cysts	Wnt/PCP, Shh, mTOR, Ca²⁺; mechanosensation, fluid pressure, proliferation	[43–50]
Hepatic fibrosis^a	Ductal plate malformation – PCP?; receptors expressed on cilia; cysts – hyperproliferation	[51–57][46]
Polydactyly	Shh	[58]
Situs inversus	Nodal, PCP	[59]
Obesity	Neuronal cilia receptors Shh	[60][46]
Skeletal/thoracic	Mechanical sensation, Shh, IFT	[58, 61–66]
Genitourinary	Ca²⁺	[67]
Cardiorespiratory	Heart – Shh, cardiogenesis; lung – primary cilia precede motile cilia	[1, 68][69][70][71]
Neural tube defects/hydrocephalus	Shh, PCP	[72][73, 74]

GPCR, G-protein coupled receptor; IFT, intraflagellar transport; JBTS, Joubert syndrome; PCP, planar cell polarity; PDGF, platelet-derived growth factor. ^aNote the importance of distinguishing primary (for example, PCP/ductal plate malformation) and secondary (for example, hepatic fibrosis and congestion) characteristics.

ISSN: 2046-2530