The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
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Author
Toriyama, Michinori
Lee, Chanjae
Taylor, S. Paige
Duran, Ivan
Cohn, Daniel H.
Bruel, Ange-Line
Tabler, Jacqueline M.
Drew, Kevin
Kelley, Marcus R.
Kim, Sukyoung
Park, Tae Joo
Braun, Daniella
Pierquin, Ghislaine
Biver, Armand
Wagner, Kerstin
Malfroot, Anne
Panigrahi, Inusha
Franco, Brunella
Al-lami, Hadeel Adel
Yeung, Yvonne
Choi, Yeon Ja
Duffourd, Yannis
Faivre, Laurence
Rivière, Jean-Baptiste
Chen, Jiang
Liu, Karen J.
Marcotte, Edward M.
Thauvin-Robinet, Christel
Krakow, Deborah
Jackson, Peter K.
Wallingford, John B.
Note: Order does not necessarily reflect citation order of authors.
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https://doi.org/10.1038/ng.3558Metadata
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Toriyama, M., C. Lee, S. P. Taylor, I. Duran, D. H. Cohn, A. Bruel, J. M. Tabler, et al. 2016. “The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.” Nature genetics 48 (6): 648-656. doi:10.1038/ng.3558. http://dx.doi.org/10.1038/ng.3558.Abstract
Summary Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. The ciliopathies are a spectrum of human disease resulting from defects in cilia structure or function. Mechanisms regulating assembly of ciliary multiprotein complexes and their transport to the base of cilia remain largely unknown. Combine proteomics, in vivo imaging, and genetic analysis of proteins linked to planar cell polarity (Inturned, Fuzzy, 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 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 novel ciliopathies in human patients.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978421/pdf/Terms of Use
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