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

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Michinori Toriyama, Chanjae Lee, S. Paige Taylor, Ivan Duran, Daniel H. Cohn, Ange Line Bruel, Jacqueline M. Tabler, Kevin Drew, Marcus R. Kelly, Sukyoung Kim, Tae Joo Park, Daniella Braun, Ghislaine Pierquin, Armand Biver, Kerstin Wagner, Anne Malfroot, Inusha Panigrahi, Brunella Franco, Hadeel Adel Al-lami, Yvonne Yeung & 12 more Yeon Ja Choi, Yannis Duffourd, Laurence Faivre, Jean Baptiste Rivière, Jiang Chen, Karen J. Liu, Edward M. Marcotte, Friedhelm Hildebrandt, Christel Thauvin-Robinet, Deborah Krakow, Peter K. Jackson, John B. Wallingford

Original languageEnglish
Pages (from-to)648-656
Number of pages9
JournalNature Genetics
Volume48
Issue number6
Early online date9 May 2016
DOIs
Accepted/In press1 Apr 2016
E-pub ahead of print9 May 2016
Published1 Jun 2016

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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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