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Beckers, A.* ; Adis, C.* ; Schuster-Gossler, K.* ; Tveriakhina, L.* ; Ott, T.* ; Fuhl, F.* ; Hegermann, J.* ; Boldt, K.* ; Serth, K.* ; Rachev, E.* ; Alten, L.* ; Kremmer, E. ; Ueffing, M.* ; Blum, M.* ; Gossler, A.*

The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development.

Development 147:dev188052 (2020)
Postprint DOI PMC
Open Access Green
Cilia are complex cellular protrusions consisting of hundreds of proteins. Defects in ciliary structure and function, many of which have not been characterised molecularly, cause ciliopathies: a heterogeneous group of human syndromes. Here, we report on the FOXJ1 target gene Cfap206, orthologues of which so far have only been studied in Chlamydomonas and Tetrahymena In mouse and Xenopus, Cfap206 was co-expressed with and dependent on Foxj1 CFAP206 protein localised to the basal body and to the axoneme of motile cilia. In Xenopus crispant larvae, the ciliary beat frequency of skin multiciliated cells was enhanced and bead transport across the epidermal mucociliary epithelium was reduced. Likewise, Cfap206 knockout mice revealed ciliary phenotypes. Electron tomography of immotile knockout mouse sperm flagella indicated a role in radial spoke formation reminiscent of FAP206 function in Tetrahymena Male infertility, hydrocephalus and impaired mucociliary clearance of the airways in the absence of laterality defects in Cfap206 mutant mice suggests that Cfap206 may represent a candidate for the subgroup of human primary ciliary dyskinesias caused by radial spoke defects.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Ciliary Beat Frequency ; Hydrocephalus ; Male Infertility ; Motile Cilia ; Mucus Accumulation ; Radial Spoke Defect; Primary Ciliary Dyskinesia; Computational Platform; Ependymal Cells; Ciliogenesis; Identification; Mutations; Flagellar; Protein; Flow; Hydrocephalus
Sprache englisch
Veröffentlichungsjahr 2020
HGF-Berichtsjahr 2020
ISSN (print) / ISBN 0950-1991
e-ISSN 1477-9129
Zeitschrift Development / Company of Biologists
Quellenangaben Band: 147, Heft: 21, Seiten: , Artikelnummer: dev188052 Supplement: ,
Verlag Company of Biologists
Verlagsort Bidder Building, Station Rd, Histon, Cambridge Cb24 9lf, England
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Molecular Immunology (IMI)
POF Topic(s) 30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
Forschungsfeld(er) Immune Response and Infection
PSP-Element(e) G-501790-003
Förderungen Landesgraduiertenforderung Baden-Wurttemberg
Deutsche Forschungsgemeinschaft Cluster of Excellence 'REBIRTH'
Deutsche Forschungsgemeinschaft
DOI 10.1242/dev.188052
WOS ID WOS:000590574000009
Scopus ID 85086523370
PubMed ID 32376681
Erfassungsdatum 2020-06-29
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