UMMS Affiliation

Department of Cell and Developmental Biology

Date

6-5-2015

Document Type

Article

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.

Rights and Permissions

Citation: Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074. Link to article on publisher's site

Comments

Full author list omitted for brevity. For the full list of authors, see article.

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/

Related Resources

Link to Article in PubMed

Keywords

Biological sciences, Cell biology, Genetics

Journal Title

Nature communications

PubMed ID

26044572

Creative Commons License


This work is licensed under a Creative Commons Attribution 4.0 License.

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