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

Michinori Toriyama 1 Chanjae Lee 1 S Paige Taylor 2 Ivan Duran 3 Daniel H Cohn 4 Ange-Line Bruel 5, 6 Jacqueline M Tabler 1 Kevin Drew 1 Marcus R Kelly 7 Sukyoung Kim 1 Tae Joo Park 8, 1 Daniela A Braun 9 Ghislaine Pierquin 10 Armand Biver 11 Kerstin Wagner 12 Anne Malfroot 13 Inusha Panigrahi 14 Brunella Franco 15 Hadeel Adel Al-Lami 16 Yvonne Yeung 16 Yeon Ja Choi 17 Yannis Duffourd 5 Laurence Faivre 5, 6 Jean-Baptiste Rivière 5 Jiang Chen 17 Karen J Liu 16 Edward M Marcotte 1 Friedhelm Hildebrandt 9 Christel Thauvin-Robinet 5, 6 Deborah Krakow 4 Peter K Jackson 7 John B Wallingford 1, * 
Abstract : 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.
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Soumis le : lundi 5 décembre 2016 - 16:31:59
Dernière modification le : jeudi 25 février 2021 - 19:02:06

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Michinori Toriyama, Chanjae Lee, S Paige Taylor, Ivan Duran, Daniel H Cohn, et al.. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nature Genetics, Nature Publishing Group, 2016, 48 (6), pp.648 - 656. ⟨10.1038/ng.3558⟩. ⟨hal-01409096⟩



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