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

Michinori Toriyama 1 Chanjae Lee 1 S Paige Taylor 2 Ivan Duran 3 Daniel H Cohn 4 Ange-Line Bruel 5, 6 Jacqueline M Tabler 1 Kevin Drew 1 Marcus R Kelly 7 Sukyoung Kim 1 Tae Joo Park 8, 1 Daniela A Braun 9 Ghislaine Pierquin 10 Armand Biver 11 Kerstin Wagner 12 Anne Malfroot 13 Inusha Panigrahi 14 Brunella Franco 15 Hadeel Adel Al-Lami 16 Yvonne Yeung 16 Yeon Ja Choi 17 Yannis Duffourd 5 Laurence Faivre 5, 6 Jean-Baptiste Rivière 5 Jiang Chen 17 Karen J Liu 16 Edward M Marcotte 1 Friedhelm Hildebrandt 9 Christel Thauvin-Robinet 5, 6 Deborah Krakow 4 Peter K Jackson 7 John B Wallingford 1, *
* Auteur correspondant
1 Department of Molecular Biosciences
2 Departement of human genetics [Los Angeles]
3 David Geffen School of Medicine [Los Angeles]
4 Department of Molecular Cellular and Developmental Biology
5 GAD - Génétique des Anomalies du Développement
6 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
7 Department of Microbiology and Immunology
8 Division of Polar Earth-System Sciences
9 HHMI - Howard Hughes Medical Institute [Chevy Chase]
10 Centre de Génétique Humaine
11 Département de Génétique, CHU, Liège
12 KannerKlinik Pédiatrie générale
13 Units of Pediatric Pulmonology
14 PGIMER - Advanced Pediatric Center
15 Dipartimento di Scienze Mediche Traslazionali
16 LDI - London Dental Institute
17 SUNY - State University of New York
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.
Keywords : 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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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01409096
Contributeur : Gad - Université de Bourgogne <>
Soumis le : lundi 5 décembre 2016 - 16:31:59
Dernière modification le : jeudi 27 août 2020 - 13:44:09

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Michinori Toriyama, Chanjae Lee, S Paige Taylor, Ivan Duran, Daniel H Cohn, et al.. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nature Genetics, Nature Publishing Group, 2016, 48 (6), pp.648 - 656. ⟨10.1038/ng.3558⟩. ⟨hal-01409096⟩

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