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

Paul W. Chrystal (), Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison (), Ping Yee Billie Au (), Ian M. MacDonald (), Gavin Arno () and Michel R. Leroux ()
Additional contact information
Paul W. Chrystal: University of Alberta
Nils J. Lambacher: Simon Fraser University
Lance P. Doucette: University of Alberta
James Bellingham: UCL Institute of Ophthalmology
Elena R. Schiff: Moorfields Eye Hospital
Nicole C. L. Noel: University of Alberta
Chunmei Li: Simon Fraser University
Sofia Tsiropoulou: Conway Institute, University College Dublin, Belfield
Geoffrey A. Casey: University of Alberta
Yi Zhai: University of Alberta
Nathan J. Nadolski: University of Alberta
Mohammed H. Majumder: University of Alberta
Julia Tagoe: Alberta Health Services
Fabiana D’Esposito: Western Eye Hospital, Imperial College Healthcare NHS Trust
Maria Francesca Cordeiro: Imperial College London
Susan Downes: Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust
Jill Clayton-Smith: University of Manchester
Jamie Ellingford: University of Manchester
Omar A. Mahroo: UCL Institute of Ophthalmology
Jennifer C. Hocking: University of Alberta
Michael E. Cheetham: UCL Institute of Ophthalmology
Andrew R. Webster: UCL Institute of Ophthalmology
Gert Jansen: Erasmus University Medical Centre
Oliver E. Blacque: Conway Institute, University College Dublin, Belfield
W. Ted Allison: University of Alberta
Ping Yee Billie Au: Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary
Ian M. MacDonald: University of Alberta
Gavin Arno: UCL Institute of Ophthalmology
Michel R. Leroux: Simon Fraser University

Nature Communications, 2022, vol. 13, issue 1, 1-22

Abstract: Abstract 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.

Date: 2022
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DOI: 10.1038/s41467-022-33820-w

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