TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Nature Communications2015Vol. 6(1), pp. 11270–11270
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Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Céline Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J.F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter Scambler, Marius Ueffing, Hülya Kayserili, Deborah Krakow, Stephen M. King, Philip L. Beales, Lihadh Al‐Gazali, Carol Wicking, Valérie Cormier‐Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman, UK10K, Saeed Al-Turki, Carl E. Anderson, Richard Anney, Dinu Antony, Jennifer L. Asimit, Muhammad Ayub, J. M. Barrett, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Chris Boustred, Gerome Breen, Marie‐Jo Brion, Andrew H. Brown, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, Allan Daly, Petr Danecek, George Davey Smith, Aaron Day-Williams, Ian N.M. Day, Richard Durbin, Sarah Edkins, Peter Ellis, David A. Evans, I. Sadaf Farooqi, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Daniel H. Geschwind, Celia M.T. Greenwood, Detelina Grozeva, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Steve E. Humphries, Matt Hurles, Pirro G. Hysi, David H. Jackson, Yalda Jamshidi, David Jewell, J. Janse Chris, J. F. Kaye, Thomas Keane, John P. Kemp, Karen L. Kennedy, Alastair Kent, Anja Kolb‐Kokocinski, Geneviève Lachance, Cordelia Langford, Irene Lee, Rui Li, Yingrui Li, Liu Ryan, Jouko Lönnqvist, Margarida Lopes, Daniel G. MacArthur, Mangino Massimo, Jonathan Marchini, John Maslen, Shane McCarthy, Peter McGuffin, Andrew M. McIntosh, Andrew G. McKechanie, Andrew McQuillin, Yasin Memari, Sarah Metrustry, Josine L. Min, Alireza Moayyeri, James Morris, Dawn Muddyman, Francesco Muntoni, Kate Northstone, Michael O’Donovan, Stephen O’Rahilly, Alexandros Onoufriadis, Karim Oualkacha, Michael Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, John Perry, Olli Pietiläinen, Vincent Plagnol, Michael A. Quail, Lydia Quaye, Lucy Raymond, Karola Rehnström, J. Brent Richards, Susan M. Ring, Graham R. S. Ritchie, David B. Savage, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Hashem A. Shihab, So–Youn Shin, David Skuse, Kerrin S. Small, C. Smee, Artigas María Soler, Nicole Soranzo, Lorraine Southam, Tim D. Spector, Beaté St Pourcain, David St Clair, Jim Stalker, Gabriela Surdulescu, Jaana Suvisaari, Ioanna Tachmazidou, Jing Tian, Nicholas J. Timpson, Martin D. Tobin, Ana M. Valdes, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Louise V. Wain, Klaudia Walter, Jun Wang, Kirsten Ward, Ellie Wheeler, Ros Whittall, Hywel Williams, Kathy Williamson, Scott G. Wilson, Kim Ping Wong, Tamieka Whyte, Changjiang Xu, Eleftheria Zeggini, Feng Zhang, Hou-Feng Zheng
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.
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