期刊
NATURE COMMUNICATIONS
卷 6, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms8074
关键词
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资金
- Wellcome Trust [WT091310]
- National Institutes of Health (NIH) [RO1 AR062651, R01 AR066124, R01 GM051293, R37 GM030626]
- Robert W. Booth Endowment at UMMS
- NIH National Institute of General Medical Sciences Institutional Development Award (IDeA) [P20 GM103449]
- Sir Jules Thorn Award for Biomedical Research [JTA/09]
- Rosetree's Trust [A465]
- British Heart Foundation
- Scientific and Technological Research Council of Turkey (TUBITAK) [112S398]
- CRANIRARE-2
- European Research Area Network (ERA-Net)
- Australian National Health and Medical Research Council grant [APP1045464]
- University of Queensland (UQ) Vice Chancellor's Senior Research Fellowship
- UQ International PhD Scholarship
- Netherlands Organization for Scientific Research [NWO Vici-865.12.005]
- Dutch Kidney Foundation [CP11.18]
- Great Ormond Street Hospital Children's Charity
- Action Medical Research UK Clinical Training Fellowship [RTF-1411]
- Radboud Excellence Initiative and Radboud Hypatia Fellowship
- German Research Foundation (DFG) [1140]
- FP7 grant [278568]
- European Community [241955]
- MRC [G0800509] Funding Source: UKRI
- Action Medical Research [1794] Funding Source: researchfish
- British Heart Foundation [RG/10/13/28570] Funding Source: researchfish
- Great Ormond Street Hospital Childrens Charity [V1299] Funding Source: researchfish
- Medical Research Council [G0800509, MR/L010305/1] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0513-10008] Funding Source: researchfish
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.
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