Arrêt de service lundi 11 juillet de 12h30 à 13h : tous les sites du CCSD (HAL, EpiSciences, SciencesConf, AureHAL) seront inaccessibles (branchement réseau à modifier)
Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Abstract : By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2DNAAF4- HSP90 complex akin to the HSP90 co-chaperone R2TP complex. Here, we demonstrate that large genomic deletions as well as point mutations involving PIH1D3 are responsible for an X-linked form of PCD causing disruption of early axonemal dynein assembly. We propose that PIH1D3, a protein that emerges as a new player of the cytoplasmic pre-assembly pathway, is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins.
Type de document :
Article dans une revue
Liste complète des métadonnées

https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560951
Contributeur : GAD - université de Bourgogne Connectez-vous pour contacter le contributeur
Soumis le : mercredi 12 juillet 2017 - 10:54:02
Dernière modification le : vendredi 20 mai 2022 - 09:06:36

Lien texte intégral

Identifiants

Citation

Chiara Olcese,, Hannah M Mitchison, Christel Thauvin-Robinet. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications, Nature Publishing Group, 2017, 8, pp.14279. ⟨10.1038/ncomms14279⟩. ⟨hal-01560951⟩

Partager

Métriques

Consultations de la notice

34