Schmidts, M;
Hou, Y;
Cortés, CR;
Mans, DA;
Huber, C;
Boldt, K;
Patel, M;
van Reeuwijk, J;
Plaza, J-M;
van Beersum, SEC;
et al.
Schmidts, M; Hou, Y; Cortés, CR; Mans, DA; Huber, C; Boldt, K; Patel, M; van Reeuwijk, J; Plaza, J-M; van Beersum, SEC; Yap, ZM; Letteboer, SJF; Taylor, SP; Herridge, W; Johnson, CA; Scambler, PJ; Ueffing, M; Kayserili, H; Krakow, D; King, SM; UK10K; Beales, PL; Al-Gazali, L; Wicking, C; Cormier-Daire, V; Roepman, R; Mitchison, HM; Witman, GB
(2015)
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Nat Commun, 6.
p. 7074.
ISSN 2041-1723
https://doi.org/10.1038/ncomms8074
SGUL Authors: Jamshidi, Yalda
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.
| Item Type: |
Article
|
| Additional Information: |
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/
Correction available at https://doi.org/10.1038/ncomms11270 |
| Keywords: |
Animals, Chlamydomonas reinhardtii, Cytoskeletal Proteins, Dyneins, Ellis-Van Creveld Syndrome, Flagella, Gene Knockdown Techniques, HEK293 Cells, Humans, Mice, Mutation, Penetrance, Zebrafish, UK10K, Flagella, Animals, Zebrafish, Humans, Mice, Chlamydomonas reinhardtii, Ellis-Van Creveld Syndrome, Penetrance, Mutation, Gene Knockdown Techniques, Dyneins, HEK293 Cells, MD Multidisciplinary |
| SGUL Research Institute / Research Centre: |
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) |
| Journal or Publication Title: |
Nat Commun |
| ISSN: |
2041-1723 |
| Language: |
eng |
| Dates: |
| Date | Event |
|---|
| 5 June 2015 | Published | | 31 March 2015 | Accepted |
|
| Publisher License: |
Creative Commons: Attribution 4.0 |
| Projects: |
| Project ID | Funder | Funder ID |
|---|
| R01 DE019567 | NIDCR NIH HHS | UNSPECIFIED | | P20 GM103449 | NIGMS NIH HHS | UNSPECIFIED | | PG/07/045/22690 | British Heart Foundation | UNSPECIFIED | | R37 GM030626 | NIGMS NIH HHS | UNSPECIFIED | | T32 HG002536 | NHGRI NIH HHS | UNSPECIFIED | | 098498 | Wellcome Trust | UNSPECIFIED | | RG/10/17/28553 | British Heart Foundation | UNSPECIFIED | | 095515 | Wellcome Trust | UNSPECIFIED | | 100574 | Wellcome Trust | UNSPECIFIED | | R01 AR066124 | NIAMS NIH HHS | UNSPECIFIED | | RG/10/13/28570 | British Heart Foundation | UNSPECIFIED | | R01 AR062651 | NIAMS NIH HHS | UNSPECIFIED | | MR/L010305/1 | Medical Research Council | UNSPECIFIED | | 100140 | Wellcome Trust | UNSPECIFIED | | G0800509 | Medical Research Council | UNSPECIFIED | | 091551 | Wellcome Trust | UNSPECIFIED | | R01 GM051293 | NIGMS NIH HHS | UNSPECIFIED | | WT091310 | Wellcome Trust | http://dx.doi.org/10.13039/100004440 | | A465 | Rosetrees Trust | http://dx.doi.org/10.13039/501100000833 | | APP1045464 | National Health and Medical Research Council | http://dx.doi.org/10.13039/501100000925 | | 278568 | Seventh Framework Programme | http://dx.doi.org/10.13039/501100004963 | | NWO Vici-865.12.005 | Netherlands Organization for Scientific Research | UNSPECIFIED | | 241955 | Seventh Framework Programme | http://dx.doi.org/10.13039/501100004963 | | CP11.18 | Dutch Kidney Foundation | UNSPECIFIED | | RTF-1411 | Action Medical Research UK | UNSPECIFIED | | 1140 | German Research Foundation | UNSPECIFIED | | JTA/09 | Sir Jules Thorn Charitable Trust | http://dx.doi.org/10.13039/501100000282 |
|
| PubMed ID: |
26044572 |
| Web of Science ID: |
WOS:000357164100001 |
 |
Go to PubMed abstract |
| URI: |
https://openaccess.sgul.ac.uk/id/eprint/112984 |
| Publisher's version: |
https://doi.org/10.1038/ncomms8074 |
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