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2022•Nature CommunicationsOpen access

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 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 M. Downes, Jill Clayton‐Smith, Jamie M. Ellingford, J. C. Ambrose, Paramasivam Arumugam, Roel P. J. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen K. Brittain, M. A. Brown, M. J. Caulfield, G. C. Chan, Adam P Giess, John N. Griffin, Angela D. Hamblin, S. Henderson, Tim Hubbard, Rob Jackson, L. J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, A. Kousathanas, L. Lahnstein, Anne F. Lakey, Sarah E. A. Leigh, Ivone Un San Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan S. Mitchell, Loukas Moutsianas, Marcus M. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, John Pullinger, Tahrima Rahim, Augusto Rendon, TL Rogers, K. Savage, K. Sawant, Richard H. Scott, A. Siddiq, Alexander Sieghart, Solomon Charles Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Elaine Thomas, S. R. Thompson, Arianna Tucci, Matthew J. Welland, Elyse T. Williams, Katarzyna J. Witkowska, Suzanne M. Wood, Magdalena Zarowiecki, 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, Michel R. Leroux

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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.

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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.

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Available 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.

Key concepts: Cilium, Ciliopathy, Ciliopathies, Motile cilium, Biology, Cell biology, Zebrafish, Ciliogenesis

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The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision — Research Paper | ScholarLens