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Updated: Dec 22, 2025
Flow Cytometric Analysis of Biomarkers for Detecting Human Sperm Functional Defects
Published on: April 21, 2022
The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development
Anja Beckers1, Christian Adis1, Karin Schuster-Gossler1
1Institute for Molecular Biology, OE5250, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.
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.
Insights
The study identifies CFAP206 as a crucial protein for motile cilia function, essential for radial spoke formation. Mutations in CFAP206 cause male infertility and respiratory issues, suggesting a link to primary ciliary dyskinesias.
Area of Science:
- Cell Biology
- Genetics
- Developmental Biology
Background:
- Cilia are vital cellular structures with hundreds of proteins, and defects cause ciliopathies.
- Many ciliary proteins and their functions remain uncharacterized at a molecular level.
- CFAP206 (cilia and flagella associated protein 206) orthologues were previously studied only in unicellular organisms.
Purpose of the Study:
- To investigate the function of the FOXJ1 target gene *Cfap206* in vertebrate cilia.
- To characterize the role of CFAP206 protein in the structure and function of motile cilia.
- To explore the potential link between *Cfap206* mutations and human ciliopathies, specifically primary ciliary dyskinesias.
Main Methods:
- Gene expression analysis in mouse and *Xenopus* to determine *Cfap206* co-expression and dependence on *Foxj1*.
- Immunolocalization studies to determine CFAP206 protein localization within cilia.
- Functional assays in *Xenopus* (ciliary beat frequency, bead transport) and *Cfap206* knockout mice (phenotypic analysis, electron tomography of sperm flagella).
Main Results:
- *Cfap206* is co-expressed with and dependent on *Foxj1* in mouse and *Xenopus*.
- CFAP206 protein localizes to the basal body and axoneme of motile cilia.
- *Xenopus* larvae with altered *Cfap206* showed increased ciliary beat frequency and reduced mucociliary transport.
- *Cfap206* knockout mice exhibited ciliary defects, including immotile sperm flagella with abnormal radial spoke formation.
- Mutant mice displayed male infertility, hydrocephalus, and impaired airway mucociliary clearance without laterality defects.
Conclusions:
- *Cfap206* is essential for motile cilia function and radial spoke formation in vertebrates.
- CFAP206 plays a conserved role in cilia, similar to its function in *Tetrahymena*.
- *Cfap206* mutations are implicated in a specific subgroup of primary ciliary dyskinesias characterized by radial spoke defects, leading to male infertility and respiratory issues.
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