The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Nature Genetics Année : 2016

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

(1) , (1) , (2) , (3) , (4) , (5, 6) , (1) , (1) , (7) , (1) , (8, 1) , (9) , (10) , (11) , (12) , (13) , (14) , (15) , (16) , (16) , (17) , (5) , (5, 6) , (5) , (17) , (16) , (1) , (9) , (5, 6) , (4) , (7) , (1)
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
Yannis Duffourd
  • Fonction : Auteur
  • PersonId : 994654

Résumé

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.

Dates et versions

hal-01409096 , version 1 (05-12-2016)

Identifiants

Citer

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, 2016, 48 (6), pp.648 - 656. ⟨10.1038/ng.3558⟩. ⟨hal-01409096⟩

Collections

UNIV-BOURGOGNE
18 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook Twitter LinkedIn More