The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development.
Development
; 147(21)2020 06 15.
Article
in En
| MEDLINE
| ID: mdl-32376681
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sperm Motility
/
Brain
/
Mucociliary Clearance
/
Cytoskeletal Proteins
/
Forkhead Transcription Factors
/
Lung
Limits:
Animals
Language:
En
Journal:
Development
Journal subject:
BIOLOGIA
/
EMBRIOLOGIA
Year:
2020
Document type:
Article
Affiliation country:
Germany