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Nat Genet. June 1, 2016; 48 (6): 648-56.

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Toriyama M , Lee C , Taylor SP , Duran I , Cohn DH , Bruel AL , Tabler JM , Drew K , Kelly MR , Kim S , Park TJ , Braun DA , Pierquin G , Biver A , Wagner K , Malfroot A , Panigrahi I , Franco B , Al-Lami HA , Yeung Y , Choi YJ , , Duffourd Y , Faivre L , Rivière JB , Chen J , Liu KJ , Marcotte EM , Hildebrandt F , Thauvin-Robinet C , Krakow D , Jackson PK , Wallingford JB .

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.

PubMed ID: 27158779
PMC ID: PMC4978421
Article link:

Genes referenced: c5orf42 fuz intu rsg1 wdpcp

Morpholinos referenced: c5orf42 MO1 fuz MO1 intu MO2 rsg1 MO2 wdpcp MO1

Adler, 1994, Pubmed[+]

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