TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

van Beersum, Sylvia E. C.; van Reeuwijk, Jeroen; Zm, Yap; van Kogelenberg, Margriet; Uk10k,; Cortés, Claudio R.; Mans, Dorus A.; Schmidts, Miriam; Plaza, Jean-Marc; Paige Taylor, S.; Yap, Zhi Min; Taylor, Sp Paige; Letteboer, Stef J. F.; Hou, Yuqing; Herridge, Warren; Johnson, Colin A.; Scambler, Peter J.; Ueffing, Marius; Kayserili, Hulya; Krakow, Deborah; King, Stephen M.; Beales, Philip L.; Al-Gazali, Lihadh; Wicking, Carol; Cormier-Daire, Valerie; Roepman, Ronald; Mitchison, Hannah M.; Al-Turki, Saeed; Huber, Celine; Witman, George B.; Anderson, Carl; Anney, Richard; Antony, Dinu; Asimit, Jennifer; Ayub, Mohammad; Barrett, Jeff; Boldt, Karsten; Barroso, Inês; Bentham, Jamie; Bhattacharya, Shoumo; Blackwood, Douglas; Bobrow, Martin; Cr, Cortés; Bochukova, Elena; Patel, Mitali; Bolton, Patrick; Boustred, Chris; Breen, Gerome; Brion, Marie-Jo; Brown, Andrew; Calissano, Mattia; Carss, Keren; Chatterjee, Krishna; Chen, Lu; Cirak, Sebhattin; Clapham, Peter; Clement, Gail; Da, Mans; Coates, Guy; Collier, David; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Daly, Allan; Danecek, Petr; Smith, George Davey; Davey, Smith George; Day-Williams, Aaron; Sadaf Farooqi, I.; Day, Ian; Durbin, Richard; Edkins, Sarah; Van Beersum, Sec; Ellis, Peter; Evans, David; Farooqi, I. Sadaf; Fatemifar, Ghazaleh; Fitzpatrick, David; Flicek, Paul; Reghan Foley, A.; Floyd, Jamie; Foley, A. Reghan; Franklin, Chris; Futema, Marta; Gallagher, Louise; Gaunt, Tom; Geschwind, Daniel; Greenwood, Celia; Grozeva, Detelina; Guo, Xiaosen; Gurling, Hugh; Hart, Deborah; Hendricks, Audrey; Holmans, Peter; Huang, Jie; Humphries, Steve E.; Hurles, Matt; Hysi, Pirro; Jackson, David; Jamshidi, Yalda; Jewell, David; Chris, Joyce; Kaye, Jane; Keane, Thomas; Kemp, John; Kennedy, Karen; Kent, Alastair; Kolb-Kokocinski, Anja; Lachance, Genevieve; Langford, Cordelia; Lee, Irene; Li, Rui; Li, Yingrui; Ryan, Liu; Lönnqvist, Jouko; Lopes, Margarida; MacArthur, Daniel G.; Massimo, Mangino; Marchini, Jonathan; Maslen, John; McCarthy, Shane; McGuffin, Peter; McIntosh, Andrew; McKechanie, Andrew; McQuillin, Andrew; Memari, Yasin; Metrustry, Sarah; Min, Josine; Jm, Plaza; Moayyeri, Alireza; Morris, James; Muddyman, Dawn; Muntoni, Francesco; Northstone, Kate; O’Donovan, Michael; O’Rahilly, Stephen; O'Donovan, Michael; O'Rahilly, Stephen; Onoufriadis, Alexandros; Oualkacha, Karim; Owen, Michael; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Se, van Beersum; Parr, Jeremy; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Perry, John; Pietilainen, Olli; Plagnol, Vincent; Quail, Michael A.; Quaye, Lydia; Raymond, Lucy; Rehnström, Karola; Brent Richards, J.; Ring, Sue; Ritchie, Graham R. S.; Savage, David B.; Schoenmakers, Nadia; Semple, Robert K.; Serra, Eva; Shihab, Hashem; Shin, So-Youn; Skuse, David; Small, Kerrin; Smee, Carol; Soler, Artigas María; Soranzo, Nicole; Southam, Lorraine; Spector, Tim; Sj, Letteboer; St Pourcain, Beate; St. Clair, David; St Clair, David; Stalker, Jim; Surdulescu, Gabriela; Suvisaari, Jaana; Tachmazidou, Ioanna; Tian, Jing; Timpson, Nic; Tobin, Martin; Valdes, Ana; Vijayarangakannan, Parthiban; Wain, Louise; Sp, Taylor; Walter, Klaudia; Wang, Jun; Ward, Kirsten; Wheeler, Ellie; Whittall, Ros; Williams, Hywel; Williamson, Kathy; Wilson, Scott G.; Wong, Kim; Whyte, Tamieka; ChangJiang, Xu; Jiang, Xu Chang; Zeggini, Eleftheria; Zhang, Feng; 10k, Uk; Gb, Witman; Zheng, Hou-Feng

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Jeroen van Reeuwijk
van Beersum et al., 2015

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Nature Research, Nature Communications, 1(6), 2015

DOI: 10.1038/ncomms8074

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@article{van Beersum2015,
  abstract = {AbstractThe 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.},
  author = {van Beersum, Sylvia E. C. and van Reeuwijk, Jeroen and Zm, Yap and van Kogelenberg, Margriet and Uk10k,  and Cortés, Claudio R. and Mans, Dorus A. and Schmidts, Miriam and Plaza, Jean-Marc and Paige Taylor, S. and Yap, Zhi Min and Taylor, Sp Paige and Letteboer, Stef J. F. and Hou, Yuqing and Herridge, Warren and Johnson, Colin A. and Scambler, Peter J. and Ueffing, Marius and Kayserili, Hulya and Krakow, Deborah and King, Stephen M. and Beales, Philip L. and Al-Gazali, Lihadh and Wicking, Carol and Cormier-Daire, Valerie and Roepman, Ronald and Mitchison, Hannah M. and Al-Turki, Saeed and Huber, Celine and Witman, George B. and Anderson, Carl and Anney, Richard and Antony, Dinu and Asimit, Jennifer and Ayub, Mohammad and Barrett, Jeff and Boldt, Karsten and Barroso, Inês and Bentham, Jamie and Bhattacharya, Shoumo and Blackwood, Douglas and Bobrow, Martin and Cr, Cortés and Bochukova, Elena and Patel, Mitali and Bolton, Patrick and Boustred, Chris and Breen, Gerome and Brion, Marie-Jo and Brown, Andrew and Calissano, Mattia and Carss, Keren and Chatterjee, Krishna and Chen, Lu and Cirak, Sebhattin and Clapham, Peter and Clement, Gail and Da, Mans and Coates, Guy and Collier, David and Cosgrove, Catherine and Cox, Tony and Craddock, Nick and Crooks, Lucy and Curran, Sarah and Daly, Allan and Danecek, Petr and Smith, George Davey and Davey, Smith George and Day-Williams, Aaron and Sadaf Farooqi, I. and Day, Ian and Durbin, Richard and Edkins, Sarah and Van Beersum, Sec and Ellis, Peter and Evans, David and Farooqi, I. Sadaf and Fatemifar, Ghazaleh and Fitzpatrick, David and Flicek, Paul and Reghan Foley, A. and Floyd, Jamie and Foley, A. Reghan and Franklin, Chris and Futema, Marta and Gallagher, Louise and Gaunt, Tom and Geschwind, Daniel and Greenwood, Celia and Grozeva, Detelina and Guo, Xiaosen and Gurling, Hugh and Hart, Deborah and Hendricks, Audrey and Holmans, Peter and Huang, Jie and Humphries, Steve E. and Hurles, Matt and Hysi, Pirro and Jackson, David and Jamshidi, Yalda and Jewell, David and Chris, Joyce and Kaye, Jane and Keane, Thomas and Kemp, John and Kennedy, Karen and Kent, Alastair and Kolb-Kokocinski, Anja and Lachance, Genevieve and Langford, Cordelia and Lee, Irene and Li, Rui and Li, Yingrui and Ryan, Liu and Lönnqvist, Jouko and Lopes, Margarida and MacArthur, Daniel G. and Massimo, Mangino and Marchini, Jonathan and Maslen, John and McCarthy, Shane and McGuffin, Peter and McIntosh, Andrew and McKechanie, Andrew and McQuillin, Andrew and Memari, Yasin and Metrustry, Sarah and Min, Josine and Jm, Plaza and Moayyeri, Alireza and Morris, James and Muddyman, Dawn and Muntoni, Francesco and Northstone, Kate and O’Donovan, Michael and O’Rahilly, Stephen and O'Donovan, Michael and O'Rahilly, Stephen and Onoufriadis, Alexandros and Oualkacha, Karim and Owen, Michael and Palotie, Aarno and Panoutsopoulou, Kalliope and Parker, Victoria and Se, van Beersum and Parr, Jeremy and Paternoster, Lavinia and Paunio, Tiina and Payne, Felicity and Perry, John and Pietilainen, Olli and Plagnol, Vincent and Quail, Michael A. and Quaye, Lydia and Raymond, Lucy and Rehnström, Karola and Brent Richards, J. and Ring, Sue and Ritchie, Graham R. S. and Savage, David B. and Schoenmakers, Nadia and Semple, Robert K. and Serra, Eva and Shihab, Hashem and Shin, So-Youn and Skuse, David and Small, Kerrin and Smee, Carol and Soler, Artigas María and Soranzo, Nicole and Southam, Lorraine and Spector, Tim and Sj, Letteboer and St Pourcain, Beate and St. Clair, David and St Clair, David and Stalker, Jim and Surdulescu, Gabriela and Suvisaari, Jaana and Tachmazidou, Ioanna and Tian, Jing and Timpson, Nic and Tobin, Martin and Valdes, Ana and Vijayarangakannan, Parthiban and Wain, Louise and Sp, Taylor and Walter, Klaudia and Wang, Jun and Ward, Kirsten and Wheeler, Ellie and Whittall, Ros and Williams, Hywel and Williamson, Kathy and Wilson, Scott G. and Wong, Kim and Whyte, Tamieka and ChangJiang, Xu and Jiang, Xu Chang and Zeggini, Eleftheria and Zhang, Feng and 10k, Uk and Gb, Witman and Zheng, Hou-Feng},
  doi = {10.1038/ncomms8074},
  journal = {Nature Communications},
  month = {jun},
  title = {TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport},
  url = {https://www.nature.com/articles/ncomms8074.pdf},
  volume = {6},
  year = {2015}
}

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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Journal article published in 2015 by Sylvia E. C. van Beersum, Jeroen van Reeuwijk

, Yap Zm, Margriet van Kogelenberg, Uk10k, Claudio R. Cortés, Dorus A. Mans

, Miriam Schmidts

, Jean-Marc Plaza, S. Paige Taylor, Zhi Min Yap, Sp Paige Taylor, Stef J. F. Letteboer, Yuqing Hou, Warren Herridge and other authors. Sylvia E. C. van Beersum, Jeroen van Reeuwijk

, Yap Zm, Margriet van Kogelenberg, Uk10k, Claudio R. Cortés, Dorus A. Mans

, Miriam Schmidts

, Jean-Marc Plaza, S. Paige Taylor, Zhi Min Yap, Sp Paige Taylor, Stef J. F. Letteboer, Yuqing Hou, Warren Herridge, Colin A. Johnson, Peter J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire

, Ronald Roepman, Hannah M. Mitchison, Saeed Al-Turki, Celine Huber, George B. Witman, Carl Anderson, Richard Anney, Dinu Antony, Jennifer Asimit, Mohammad Ayub, Jeff Barrett, Karsten Boldt, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Douglas Blackwood, Martin Bobrow, Cortés Cr, Elena Bochukova, Mitali Patel, Patrick Bolton, Chris Boustred, Gerome Breen, Marie-Jo Brion, Andrew Brown, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Sebhattin Cirak, Peter Clapham, Gail Clement, Mans Da, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, Allan Daly, Petr Danecek, George Davey Smith, Smith George Davey, Aaron Day-Williams, I. Sadaf Farooqi, Ian Day, Richard Durbin, Sarah Edkins, Sec Van Beersum, Peter Ellis, David Evans, I. Sadaf Farooqi

, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, A. Reghan Foley, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Louise Gallagher, Tom Gaunt, Daniel Geschwind, Celia Greenwood, Detelina Grozeva, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey Hendricks, Peter Holmans, Jie Huang, Steve E. Humphries, Matt Hurles, Pirro Hysi, David Jackson, Yalda Jamshidi, David Jewell, Joyce Chris, Jane Kaye, Thomas Keane, John Kemp, Karen Kennedy, Alastair Kent, Anja Kolb-Kokocinski, Genevieve 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 McIntosh

, Andrew McKechanie, Andrew McQuillin, Yasin Memari, Sarah Metrustry, Josine Min, Plaza Jm, Alireza Moayyeri, James Morris, Dawn Muddyman, Francesco Muntoni, Kate Northstone, Michael O’Donovan, Stephen O’Rahilly, Michael O'Donovan, Stephen O'Rahilly, Alexandros Onoufriadis, Karim Oualkacha, Michael Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, van Beersum Se, Jeremy Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, John Perry, Olli Pietilainen, Vincent Plagnol

, Michael A. Quail, Lydia Quaye, Lucy Raymond, Karola Rehnström, J. Brent Richards, Sue Ring, Graham R. S. Ritchie, David B. Savage, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Hashem Shihab, So-Youn Shin, David Skuse, Kerrin Small, Carol Smee, Artigas María Soler, Nicole Soranzo, Lorraine Southam, Tim Spector, Letteboer Sj, Beate St Pourcain, David St. Clair, David St Clair, Jim Stalker, Gabriela Surdulescu, Jaana Suvisaari, Ioanna Tachmazidou, Jing Tian, Nic Timpson, Martin Tobin, Ana Valdes, Parthiban Vijayarangakannan, Louise Wain

, Taylor Sp, Klaudia Walter, Jun Wang, Kirsten Ward, Ellie Wheeler, Ros Whittall, Hywel Williams, Kathy Williamson, Scott G. Wilson

, Kim Wong, Tamieka Whyte, Xu ChangJiang, Xu Chang Jiang, Eleftheria Zeggini

, Feng Zhang, Uk 10k, Witman Gb, Hou-Feng Zheng

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Abstract

AbstractThe 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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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

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