TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

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Authors
Schmidts, Miriam
Hou, Yuqing
Mitchison, Hannah M.
Witman, George B.
UMass Chan Affiliations
Department of Cell and Developmental Biology
Document Type
Journal Article
Publication Date
2015-06-05
Keywords
Biological sciences
Cell biology
Genetics
Cell and Developmental Biology
Cell Biology
Genetics
Musculoskeletal Diseases

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Abstract
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.
Source
Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Link to article on publisher's site
DOI
10.1038/ncomms8074
Permanent Link to this Item
http://hdl.handle.net/20.500.14038/26487
PubMed ID
26044572
Notes

Full author list omitted for brevity. For the full list of authors, see article.
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Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. 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/
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Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. 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 <a href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</a>
Except where otherwise noted, this item's license is described as Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. 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 <a href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</a>