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XB-ART-56971
Development 2020 Jun 15;14721:. doi: 10.1242/dev.188052.
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The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development.

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 .


Abstract
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.

PubMed ID: 32376681
Article link: Development


Species referenced: Xenopus laevis
Genes referenced: cfap206 cox4i1 epha8 fes foxj1 foxj1.2 hprt1 psmd6 rs1 septin7 tub
GO keywords: radial spoke [+]
gRNAs referenced: cfap206 gRNA1 cfap206 gRNA2 cfap206 gRNA3 cfap206 gRNA4 foxj1 gRNA1 foxj1 gRNA2 foxj1 gRNA3

Disease Ontology terms: ciliopathy [+]
OMIMs: CILIARY DYSKINESIA, PRIMARY, 1; CILD1
Phenotypes: Xla Wt + cfap206 CRISPR (Fig. 4 A) [+]

Article Images: [+] show captions