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

Citation data:

Nature genetics, ISSN: 1546-1718, Vol: 48, Issue: 6, Page: 648-56

Publication Year:
2016
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Repository URL:
http://scholarworks.unist.ac.kr/handle/201301/19198
PMID:
27158779
DOI:
10.1038/ng.3558
PMCID:
PMC4978421
Author(s):
Toriyama, Michinori; Lee, Chanjae; Taylor, S Paige; Duran, Ivan; Cohn, Daniel H; Bruel, Ange-Line; Tabler, Jacqueline M; Drew, Kevin; Kelly, Marcus R; Kim, Sukyoung; Park, Tae Joo; Braun, Daniela A; Pierquin, Ghislaine; Biver, Armand; Wagner, Kerstin; Malfroot, Anne; Panigrahi, Inusha; Franco, Brunella; Al-Lami, Hadeel Adel; Yeung, Yvonne; Choi, Yeon Ja; University of Washington Center for Mendelian Genomics; Duffourd, Yannis; Faivre, Laurence; Rivière, Jean-Baptiste; Chen, Jiang; Liu, Karen J; Marcotte, Edward M; Hildebrandt, Friedhelm; Thauvin-Robinet, Christel; Krakow, Deborah; Jackson, Peter K; Wallingford, John B Show More Hide
Publisher(s):
Springer Nature; NATURE PUBLISHING GROUP
Tags:
Biochemistry, Genetics and Molecular Biology; PLANAR CELL POLARITY; PRIMARY CILIARY DYSKINESIA; IFT-A COMPLEX; JOUBERT SYNDROME; CHLAMYDOMONAS FLAGELLA; EMBRYONIC-DEVELOPMENT; TUBULIN TRANSPORT; AXONEMAL DYNEINS; VESICLE DOCKING; EFFECTOR FUZ
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article description
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.