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

Olcese, Chiara; Patel, Mitali P.; Shoemark, Amelia; Kiviluoto, Santeri; Legendre, Marie; Williams, Hywel J.; Vaughan, Cara K.; Hayward, Jane; Goldenberg, Alice; Emes, Richard D.; Munye, Mustafa M.; Dyer, Laura; Cahill, Thomas; Bevillard, Jeremy; Gehrig, Corinne; Guipponi, Michel; Chantot, Sandra; Duquesnoy, Philippe; Thomas, Lucie; Jeanson, Ludovic; Copin, Bruno; Tamalet, Aline; Thauvin-Robinet, Christel; Papon, Jean- Fran?ois; Garin, Antoine; Pin, Isabelle; Vera, Gabriella; Aurora, Paul; Fassad, Mahmoud R.; Jenkins, Lucy; Boustred, Christopher; Cullup, Thomas; Dixon, Mellisa; Onoufriadis, Alexandros; Bush, Andrew; Chung, Eddie M. K.; Antonarakis, Stylianos E.; Loebinger, Michael R.; Wilson, Robert; Armengot, Miguel; Escudier, Estelle; Hogg, Claire; Al-Turki, Saeed; Anderson, Carl; Antony, Dinu; Barroso, In?s; Beales, Philip L.; Bentham, Jamie; Bhattacharya, Shoumo; Carss, Keren; Chatterjee, Krishna; Cirak, Sebahattin; Cosgrove, Catherine; Allan, Daly; Durbin, Richard; Fitzpatrick, Dav...


Chiara Olcese

Mitali P. Patel

Amelia Shoemark

Santeri Kiviluoto

Marie Legendre

Hywel J. Williams

Cara K. Vaughan

Jane Hayward

Alice Goldenberg

Richard D. Emes

Mustafa M. Munye

Laura Dyer

Thomas Cahill

Jeremy Bevillard

Corinne Gehrig

Michel Guipponi

Sandra Chantot

Philippe Duquesnoy

Lucie Thomas

Ludovic Jeanson

Bruno Copin

Aline Tamalet

Christel Thauvin-Robinet


Antoine Garin

Isabelle Pin

Gabriella Vera

Paul Aurora

Mahmoud R. Fassad

Lucy Jenkins

Christopher Boustred

Thomas Cullup

Mellisa Dixon

Alexandros Onoufriadis

Andrew Bush

Eddie M. K. Chung

Stylianos E. Antonarakis

Michael R. Loebinger

Robert Wilson

Miguel Armengot

Estelle Escudier

Claire Hogg

Saeed Al-Turki

Carl Anderson

Dinu Antony


Philip L. Beales

Jamie Bentham

Shoumo Bhattacharya

Keren Carss

Krishna Chatterjee

Sebahattin Cirak

Catherine Cosgrove

Daly Allan

Richard Durbin

David Fitzpatrick

Jamie Floyd

A. Reghan Foley

Chris Franklin

Marta Futema

Steve E. Humphries

Matt Hurles

Shane McCarthy

Dawn Muddyman

Francesco Muntoni

Victoria Parker

Felicity Payne

Vincent Plagnol

Lucy Raymond

David B. Savage

Peter J. Scambler

Miriam Schmidts

Robert Semple

Eva Serra

Jim Stalker

Margriet van Kogelenberg

Parthiban Vijayarangakannan

Klaudia Walter

Serge Amselem

Zhaoxia Sun

Lucia Bartoloni

Jean-Louis Blouin

Hannah M. Mitchison


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 DNAAF2–DNAAF4–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.


Olcese, C., Patel, M. P., Shoemark, A., Kiviluoto, S., Legendre, M., Williams, H. J., …Mitchison, H. M. (in press). X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications, 8, Article 14279.

Journal Article Type Article
Acceptance Date Dec 15, 2016
Online Publication Date Feb 8, 2017
Deposit Date Mar 3, 2017
Publicly Available Date Mar 3, 2017
Journal Nature Communications
Electronic ISSN 2041-1723
Publisher Nature Publishing Group
Peer Reviewed Peer Reviewed
Volume 8
Article Number 14279
Public URL
Publisher URL


ncomms14279.pdf (6 Mb)

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