X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
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 d...
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| Format: | Article |
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Nature Publishing Group
2017
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| Online Access: | https://eprints.nottingham.ac.uk/41044/ |
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| author | 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- François 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, Inês Beales, Philip L. Bentham, Jamie Bhattacharya, Shoumo Carss, Keren Chatterjee, Krishna Cirak, Sebahattin Cosgrove, Catherine Allan, Daly Durbin, Richard Fitzpatrick, David Floyd, Jamie Foley, A. Reghan Franklin, Chris Futema, Marta Humphries, Steve E. Hurles, Matt McCarthy, Shane Muddyman, Dawn Muntoni, Francesco Parker, Victoria Payne, Felicity Plagnol, Vincent Raymond, Lucy Savage, David B. Scambler, Peter J. Schmidts, Miriam Semple, Robert Serra, Eva Stalker, Jim van Kogelenberg, Margriet Vijayarangakannan, Parthiban Walter, Klaudia Amselem, Serge Sun, Zhaoxia Bartoloni, Lucia Blouin, Jean-Louis Mitchison, Hannah M. |
| author_facet | 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- François 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, Inês Beales, Philip L. Bentham, Jamie Bhattacharya, Shoumo Carss, Keren Chatterjee, Krishna Cirak, Sebahattin Cosgrove, Catherine Allan, Daly Durbin, Richard Fitzpatrick, David Floyd, Jamie Foley, A. Reghan Franklin, Chris Futema, Marta Humphries, Steve E. Hurles, Matt McCarthy, Shane Muddyman, Dawn Muntoni, Francesco Parker, Victoria Payne, Felicity Plagnol, Vincent Raymond, Lucy Savage, David B. Scambler, Peter J. Schmidts, Miriam Semple, Robert Serra, Eva Stalker, Jim van Kogelenberg, Margriet Vijayarangakannan, Parthiban Walter, Klaudia Amselem, Serge Sun, Zhaoxia Bartoloni, Lucia Blouin, Jean-Louis Mitchison, Hannah M. |
| author_sort | Olcese, Chiara |
| building | Nottingham Research Data Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T19:43:56Z |
| format | Article |
| id | nottingham-41044 |
| institution | University of Nottingham Malaysia Campus |
| institution_category | Local University |
| last_indexed | 2025-11-14T19:43:56Z |
| publishDate | 2017 |
| publisher | Nature Publishing Group |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | nottingham-410442020-05-04T18:35:37Z https://eprints.nottingham.ac.uk/41044/ 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- François 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, Inês Beales, Philip L. Bentham, Jamie Bhattacharya, Shoumo Carss, Keren Chatterjee, Krishna Cirak, Sebahattin Cosgrove, Catherine Allan, Daly Durbin, Richard Fitzpatrick, David Floyd, Jamie Foley, A. Reghan Franklin, Chris Futema, Marta Humphries, Steve E. Hurles, Matt McCarthy, Shane Muddyman, Dawn Muntoni, Francesco Parker, Victoria Payne, Felicity Plagnol, Vincent Raymond, Lucy Savage, David B. Scambler, Peter J. Schmidts, Miriam Semple, Robert Serra, Eva Stalker, Jim van Kogelenberg, Margriet Vijayarangakannan, Parthiban Walter, Klaudia Amselem, Serge Sun, Zhaoxia Bartoloni, Lucia Blouin, Jean-Louis Mitchison, Hannah M. 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. Nature Publishing Group 2017-02-08 Article PeerReviewed 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- François, 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, Inês, Beales, Philip L., Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Allan, Daly, Durbin, Richard, Fitzpatrick, David, Floyd, Jamie, Foley, A. Reghan, Franklin, Chris, Futema, Marta, Humphries, Steve E., Hurles, Matt, McCarthy, Shane, Muddyman, Dawn, Muntoni, Francesco, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David B., Scambler, Peter J., Schmidts, Miriam, Semple, Robert, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis and Mitchison, Hannah M. (2017) X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications, 8 . p. 14279. ISSN 2041-1723 http://www.nature.com/articles/ncomms14279 doi:10.1038/ncomms14279 doi:10.1038/ncomms14279 |
| spellingShingle | 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- François 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, Inês Beales, Philip L. Bentham, Jamie Bhattacharya, Shoumo Carss, Keren Chatterjee, Krishna Cirak, Sebahattin Cosgrove, Catherine Allan, Daly Durbin, Richard Fitzpatrick, David Floyd, Jamie Foley, A. Reghan Franklin, Chris Futema, Marta Humphries, Steve E. Hurles, Matt McCarthy, Shane Muddyman, Dawn Muntoni, Francesco Parker, Victoria Payne, Felicity Plagnol, Vincent Raymond, Lucy Savage, David B. Scambler, Peter J. Schmidts, Miriam Semple, Robert Serra, Eva Stalker, Jim van Kogelenberg, Margriet Vijayarangakannan, Parthiban Walter, Klaudia Amselem, Serge Sun, Zhaoxia Bartoloni, Lucia Blouin, Jean-Louis Mitchison, Hannah M. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title | X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_full | X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_fullStr | X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_full_unstemmed | X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_short | X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 |
| title_sort | x-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor pih1d3 |
| url | https://eprints.nottingham.ac.uk/41044/ https://eprints.nottingham.ac.uk/41044/ https://eprints.nottingham.ac.uk/41044/ |