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Chrystal, Paul W.; Lambacher, Nils J.; Doucette, Lance P.; Bellingham, James; Schiff, Elena R.; Noel, Nicole C. L.; Li, Chunmei; Tsiropoulou, Sofia; Casey, Geoffrey A.; Zhai, Yi; Nadolski, Nathan J.; Majumder, Mohammed H.; Tagoe, Julia; D’Esposito, Fabiana; Cordeiro, Maria Francesca; Downes, Susan; Clayton-Smith, Jill; Ellingford, Jamie; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; [...]

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

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  • Medientyp: E-Artikel
  • Titel: The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
  • Beteiligte: Chrystal, Paul W.; Lambacher, Nils J.; Doucette, Lance P.; Bellingham, James; Schiff, Elena R.; Noel, Nicole C. L.; Li, Chunmei; Tsiropoulou, Sofia; Casey, Geoffrey A.; Zhai, Yi; Nadolski, Nathan J.; Majumder, Mohammed H.; Tagoe, Julia; D’Esposito, Fabiana; Cordeiro, Maria Francesca; Downes, Susan; Clayton-Smith, Jill; Ellingford, Jamie; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; [...]
  • Erschienen: Springer Science and Business Media LLC, 2022
  • Erschienen in: Nature Communications
  • Sprache: Englisch
  • DOI: 10.1038/s41467-022-33820-w
  • ISSN: 2041-1723
  • Schlagwörter: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
  • Entstehung:
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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,<jats:italic>cfap20</jats:italic>is required for motile cilia function, and in<jats:italic>C. elegans</jats:italic>, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development. Human patients and zebrafish with<jats:italic>CFAP20</jats:italic>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.</jats:p>
  • Zugangsstatus: Freier Zugang