Department of Cell and Developmental Biology
Cell and Developmental Biology | Cell Biology | Genetics | Musculoskeletal Diseases
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.
Biological sciences, Cell biology, Genetics
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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/
DOI of Published Version
Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Link to article on publisher's site
Schmidts, Miriam; Hou, Yuqing; Mitchison, Hannah M.; and Witman, George B., "TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport" (2015). Cell and Developmental Biology Publications. 171.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.