Cargando…
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially pe...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Pub. Group
2015
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468853/ https://www.ncbi.nlm.nih.gov/pubmed/26044572 http://dx.doi.org/10.1038/ncomms8074 |
| _version_ | 1782376559082995712 |
|---|---|
| author | Schmidts, Miriam Hou, Yuqing Cortés, Claudio R. Mans, Dorus A. Huber, Celine Boldt, Karsten Patel, Mitali van Reeuwijk, Jeroen Plaza, Jean-Marc van Beersum, Sylvia E. C. Yap, Zhi Min Letteboer, Stef J. F. Taylor, S. Paige Herridge, Warren Johnson, Colin A. Scambler, Peter J. Ueffing, Marius Kayserili, Hulya Krakow, Deborah King, Stephen M. Beales, Philip L. Al-Gazali, Lihadh Wicking, Carol Cormier-Daire, Valerie Roepman, Ronald Mitchison, Hannah M. Witman, George B. |
| author_facet | Schmidts, Miriam Hou, Yuqing Cortés, Claudio R. Mans, Dorus A. Huber, Celine Boldt, Karsten Patel, Mitali van Reeuwijk, Jeroen Plaza, Jean-Marc van Beersum, Sylvia E. C. Yap, Zhi Min Letteboer, Stef J. F. Taylor, S. Paige Herridge, Warren Johnson, Colin A. Scambler, Peter J. Ueffing, Marius Kayserili, Hulya Krakow, Deborah King, Stephen M. Beales, Philip L. Al-Gazali, Lihadh Wicking, Carol Cormier-Daire, Valerie Roepman, Ronald Mitchison, Hannah M. Witman, George B. |
| author_sort | Schmidts, Miriam |
| collection | PubMed |
| description | The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions. |
| format | Online Article Text |
| id | pubmed-4468853 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | Nature Pub. Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-44688532015-06-30 TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport Schmidts, Miriam Hou, Yuqing Cortés, Claudio R. Mans, Dorus A. Huber, Celine Boldt, Karsten Patel, Mitali van Reeuwijk, Jeroen Plaza, Jean-Marc van Beersum, Sylvia E. C. Yap, Zhi Min Letteboer, Stef J. F. Taylor, S. Paige Herridge, Warren Johnson, Colin A. Scambler, Peter J. Ueffing, Marius Kayserili, Hulya Krakow, Deborah King, Stephen M. Beales, Philip L. Al-Gazali, Lihadh Wicking, Carol Cormier-Daire, Valerie Roepman, Ronald Mitchison, Hannah M. Witman, George B. Nat Commun Article The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions. Nature Pub. Group 2015-06-05 /pmc/articles/PMC4468853/ /pubmed/26044572 http://dx.doi.org/10.1038/ncomms8074 Text en Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| spellingShingle | Article Schmidts, Miriam Hou, Yuqing Cortés, Claudio R. Mans, Dorus A. Huber, Celine Boldt, Karsten Patel, Mitali van Reeuwijk, Jeroen Plaza, Jean-Marc van Beersum, Sylvia E. C. Yap, Zhi Min Letteboer, Stef J. F. Taylor, S. Paige Herridge, Warren Johnson, Colin A. Scambler, Peter J. Ueffing, Marius Kayserili, Hulya Krakow, Deborah King, Stephen M. Beales, Philip L. Al-Gazali, Lihadh Wicking, Carol Cormier-Daire, Valerie Roepman, Ronald Mitchison, Hannah M. Witman, George B. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |
| title | TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |
| title_full | TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |
| title_fullStr | TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |
| title_full_unstemmed | TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |
| title_short | TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |
| title_sort | tctex1d2 mutations underlie jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468853/ https://www.ncbi.nlm.nih.gov/pubmed/26044572 http://dx.doi.org/10.1038/ncomms8074 |
| work_keys_str_mv | AT schmidtsmiriam tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT houyuqing tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT cortesclaudior tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT mansdorusa tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT huberceline tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT boldtkarsten tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT patelmitali tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT vanreeuwijkjeroen tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT plazajeanmarc tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT vanbeersumsylviaec tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT yapzhimin tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT letteboerstefjf tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT taylorspaige tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT herridgewarren tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT johnsoncolina tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT scamblerpeterj tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT ueffingmarius tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT kayserilihulya tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT krakowdeborah tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT kingstephenm tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT bealesphilipl tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT algazalilihadh tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT wickingcarol tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT cormierdairevalerie tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT roepmanronald tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT mitchisonhannahm tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT witmangeorgeb tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport AT tctex1d2mutationsunderliejeuneasphyxiatingthoracicdystrophywithimpairedretrogradeintraflagellartransport |