The CPLANE protein Fuzzy regulates ciliogenesis by suppressing actin polymerization at the base of the primary cilium via p190A RhoGAP

Development. 2024 Mar 15;151(6):dev202322. doi: 10.1242/dev.202322. Epub 2024 Mar 28.

Abstract

The primary cilium decorates most eukaryotic cells and regulates tissue morphogenesis and maintenance. Structural or functional defects of primary cilium result in ciliopathies, congenital human disorders affecting multiple organs. Pathogenic variants in the ciliogenesis and planar cell polarity effectors (CPLANE) genes FUZZY, INTU and WDPCP disturb ciliogenesis, causing severe ciliopathies in humans and mice. Here, we show that the loss of Fuzzy in mice results in defects of primary cilia, accompanied by increased RhoA activity and excessive actin polymerization at the basal body. We discovered that, mechanistically, Fuzzy interacts with and recruits the negative actin regulator ARHGAP35 (also known as p190A RhoGAP) to the basal body. We identified genetic interactions between the two genes and found that a mutant ArhGAP35 allele increases the severity of phenotypic defects observed in Fuzzy-/- mice. Based on our findings, we propose that Fuzzy regulates ciliogenesis by recruiting ARHGAP35 to the basal body, where the latter likely restricts actin polymerization and modifies the actin network. Our study identifies a mechanism whereby CPLANE proteins control both actin polymerization and primary cilium formation.

Keywords: ARHRhoGAP35; Actin; CPLANE; Ciliogenesis; Cytoskeleton; Mouse; Planar cell polarity effectors; Primary cilium.

MeSH terms

  • Actins* / metabolism
  • Animals
  • Cilia / metabolism
  • Ciliopathies*
  • GTPase-Activating Proteins*
  • Humans
  • Mice
  • Polymerization

Substances

  • Actins
  • rho GTPase-activating protein
  • GTPase-Activating Proteins