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

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...

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Main Authors:	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., Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K., Wallingford, John B.
Format:	Online
Language:	English
Published:	2016
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978421/

id	pubmed-4978421
recordtype	oai_dc
spelling	pubmed-49784212016-11-09 The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery 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. Hildebrandt, Friedhelm Thauvin-Robinet, Christel Krakow, Deborah Jackson, Peter K. Wallingford, John B. Article 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. 2016-05-09 2016-06 /pmc/articles/PMC4978421/ /pubmed/27158779 http://dx.doi.org/10.1038/ng.3558 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
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. Hildebrandt, Friedhelm Thauvin-Robinet, Christel Krakow, Deborah Jackson, Peter K. Wallingford, John B.
spellingShingle	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. Hildebrandt, Friedhelm Thauvin-Robinet, Christel Krakow, Deborah Jackson, Peter K. Wallingford, John B. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
author_facet	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. Hildebrandt, Friedhelm Thauvin-Robinet, Christel Krakow, Deborah Jackson, Peter K. Wallingford, John B.
author_sort	Toriyama, Michinori
title	The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
title_short	The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
title_full	The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
title_fullStr	The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
title_full_unstemmed	The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
title_sort	ciliopathy-associated cplane proteins direct basal body recruitment of intraflagellar transport machinery
description	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.
publishDate	2016
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978421/
_version_	1613624234594009088

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

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