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XB-ART-56604
Dev Biol January 1, 2020; 459 (2): 109-125.

CFAP43 modulates ciliary beating in mouse and Xenopus.

Rachev E , Schuster-Gossler K , Fuhl F , Ott T , Tveriakhina L , Beckers A , Hegermann J , Boldt K , Mai M , Kremmer E , Ueffing M , Blum M , Gossler A .


Abstract
Malfunctions of motile cilia cause a variety of developmental defects and diseases in humans and animal model organisms. Defects include impaired mucociliary clearance of the airways, sperm immotility, hydrocephalus and organ laterality. Here, we characterize the evolutionary conserved Cfap43 gene by loss-of-function experiments in the mouse and the frog Xenopus laevis. Cfap43 is expressed in tissues carrying motile cilia and acts as a target gene of the transcription factor FOXJ1, which is essential for the induction of motile ciliogenesis. We show that CFAP43, a protein of unknown biochemical function, localizes to the ciliary axoneme. CFAP43 is involved in the regulation of the beating frequency of tracheal cilia and loss of CFAP43 causes severe mucus accumulation in the nasal cavity. Likewise, morphant and crispant frog embryos revealed impaired function of motile cilia of the larval epidermis, a model for airway mucociliary epithelia. CFAP43 participates in the formation of flagellar axonemes during spermatogenesis as mice mutant for Cfap43 display male infertility, consistent with observations in male sterile patients. In addition, mice mutant for Cfap43 display early onset hydrocephalus. Together, these results confirm the role of CFAP43 in the male reproductive tract and pinpoint additional functions in airway epithelia mucus clearance and brain development.

PubMed ID: 31884020
Article link: Dev Biol


Species referenced: Xenopus
Genes referenced: cdkn2b cfap43 dand5 dnai1 epha8 fes foxj1 hprt1 kidins220 pitx2 psmd6 septin7 slc7a5 stom tub tubg1
GO keywords: fluid transport [+]
Antibodies: Tubg1 Ab4
Morpholinos: cfap43 MO1 cfap43 MO2

Disease Ontology terms: visceral heterotaxy [+]
Phenotypes: Xla + cfap43 MO (Fig. 4 A B) [+]

Article Images: [+] show captions