29 research outputs found
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia
Isolation and characterization of a yeast gene that is homologous with a meiosis-specific cDNA from a plant
The novel component Kgd4 recruits the E3 subunit to the mitochondrial α-ketoglutarate dehydrogenase
Antibacterial activity and mechanism of ThDP analogs against rice brown stripe pathogen Acidovorax avenae subsp. avenae RS-1
Polycarbonate biodegradation by isolated molds using clear-zone and atomic force microscopic methods
The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function. The mechanisms regulating the assembly of ciliary multiprotein complexes and the transport of these complexes to the base of cilia remain largely unknown. Combining proteomics, in vivo imaging and genetic analysis of proteins linked to planar cell polarity (Inturned, Fuzzy and Wdpcp), we identified and characterized a new genetic module, which we term CPLANE (ciliogenesis and planar polarity effector), and an extensive associated protein network. CPLANE proteins physically and functionally interact with the poorly understood ciliopathy-associated protein Jbts17 at basal bodies, where they act to recruit a specific subset of IFT-A proteins. In the absence of CPLANE, defective IFT-A particles enter the axoneme and IFT-B trafficking is severely perturbed. Accordingly, mutation of CPLANE genes elicits specific ciliopathy phenotypes in mouse models and is associated with ciliopathies in human patients.clos