Journal
NATURE GENETICS
Volume 48, Issue 6, Pages 648-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3558
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Funding
- Lung GO Sequencing Project [HL-102923]
- WHI Sequencing Project [HL-102924]
- Broad GO Sequencing Project [HL-102925]
- Seattle GO Sequencing Project [HL-102926]
- Heart GO Sequencing Project [HL-103010]
- NHGRI
- NHLBI [1U54 HG006493, HL117164]
- Uehara Memorial Foundation Fellowship
- NIDCR NRSA
- French Rare Diseases Foundation
- French Ministry of Health (PHRC national) [2010-A01014-35]
- Regional Council of Burgundy
- NIDDK [DK1068306]
- NIAMS [AR061485]
- BBSRC [BB/K010492/1]
- MRC [MR/L017237/1]
- NIH
- NSF
- CPRIT
- Welch Foundation [F-1515]
- March of Dimes [R01 AR066124]
- Joseph Drown Foundation
- NIH/NCATS UCLA CTSI grant [UL1TR000124, R01 AR062651]
- NIGMS [GM114276, GM104853]
- Baxter Laboratory
- Stanford Department of Research
- Biotechnology and Biological Sciences Research Council [BB/K010492/1] Funding Source: researchfish
- Medical Research Council [MR/L017237/1] Funding Source: researchfish
- MRC [MR/L017237/1] Funding Source: UKRI
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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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