The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Journal article

Motile and non-motile cilia are associated with mutually-exclusive genetic disorders. Motile cilia propel sperm or extracellular fluids, and their dysfunction causes primary ciliary dyskinesia. Non-motile cilia serve as sensory/signalling antennae on most cell types, and their disruption causes single-organ ciliopathies such as retinopathies or multi-system syndromes. CFAP20 is a ciliopathy candidate known to modulate motile cilia in unicellular eukaryotes. We demonstrate that in zebrafish, cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development. Human patients and zebrafish with CFAP20 mutations both exhibit retinal dystrophy. Hence, CFAP20 functions within a structural/functional hub centered on the inner junction that is shared between motile and non-motile cilia, and is distinct from other ciliopathy-associated domains or macromolecular complexes. Our findings suggest an uncharacterised pathomechanism for retinal dystrophy, and potentially for motile and non-motile ciliopathies in general

Authors: Chrystal, PW; Lambacher, NJ; Doucette, LP; Bellingham, J; Schiff, ER

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Nature Research
• Journal: Nature Communications
• Volume: 13
• Issue: 1
• Pages: 6595-6595
• Article number: 6595
• Publication date: 2022-11-03
• DOI: 10.1038/s41467-022-33820-w
• EISSN: 2041-1723
• ISSN: 2041-1723
• Language: English
• Keywords: Biology; Intraflagellar transport; Ciliogenesis; Phenotype; Cell biology; Zebrafish; Ciliopathy; Ciliopathies; Genetics; Motile cilium; Primary ciliary dyskinesia; Gene; Cilium; Joubert syndrome; Flagellum