CFAP43 modulates ciliary beating in mouse and Xenopus

Dev Biol. 2020 Mar 15;459(2):109-125. doi: 10.1016/j.ydbio.2019.12.010. Epub 2019 Dec 27.


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.

Keywords: CFAP43; Cilia; Ciliogenesis; Hydrocephalus; Male infertility; Mouse; Mucociliary clearance; Xenopus laevis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cilia / metabolism*
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism*
  • Epidermal Cells / metabolism
  • Forkhead Transcription Factors / metabolism
  • Hydrocephalus / genetics
  • Infertility, Male / genetics
  • Male
  • Mice
  • Mice, Knockout
  • Sperm Tail / metabolism
  • Spermatogenesis / genetics
  • Spermatozoa / metabolism
  • Trachea / cytology
  • Xenopus Proteins / genetics
  • Xenopus Proteins / metabolism*
  • Xenopus laevis


  • Cfap43 protein, mouse
  • Cytoskeletal Proteins
  • FOXJ1 protein, mouse
  • Forkhead Transcription Factors
  • Xenopus Proteins