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

Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine 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 J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King & 167 others Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman, Saeed Al-Turki, Carl Anderson, Richard Anney, Dinu Antony, Jennifer Asimit, Mohammad Ayub, Jeff Barrett, Inês Barroso, Jamie Bentham, Shoumo Bhattacharya, Douglas Blackwood, Martin Bobrow, Elena Bochukova, 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, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, Allan Daly, Petr Danecek, Smith George Davey, Aaron Day-Williams, Ian Day, Richard Durbin, Sarah Edkins, Peter Ellis, David Evans, I. Sadaf Farooqi, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, 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, 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 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, Beate St Pourcain, David St Clair, Jim Stalker, Gabriela Surdulescu, Jaana Suvisaari, Ioanna Tachmazidou, Jing Tian, Nic Timpson, Martin Tobin, Ana Valdes, Margriet Van Kogelenberg, Parthiban Vijayarangakannan, Louise Wain, Klaudia Walter, Jun Wang, Kirsten Ward, Ellie Wheeler, Ros Whittall, Hywel Williams, Kathy Williamson, Scott G. Wilson, Kim Wong, Tamieka Whyte, Xu Chang Jiang, Eleftheria Zeggini, Feng Zhang, Hou Feng Zheng

    Research output: Contribution to journalArticle

    27 Citations (Scopus)

    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.

    Original languageEnglish
    Article number7074
    JournalNature Communications
    Volume6
    DOIs
    Publication statusPublished - 5 Jun 2015

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    penetrants
    Dyneins
    vertebrates
    machinery
    destabilization
    mutations
    Enchondromatosis
    Cell signaling
    Chlamydomonas
    Mutation
    cells
    Machinery
    Embryonic Development
    Vertebrates
    Survival
    Jeune syndrome

    Cite this

    Schmidts, M., Hou, Y., Cortés, C. R., Mans, D. A., Huber, C., Boldt, K., ... Zheng, H. F. (2015). TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6, [7074]. https://doi.org/10.1038/ncomms8074
    Schmidts, Miriam ; Hou, Yuqing ; Cortés, Claudio R. ; Mans, Dorus A. ; Huber, Celine ; Boldt, Karsten ; Patel, Mitali ; Van Reeuwijk, Jeroen ; Plaza, Jean Marc ; Van Beersum, Sylvia E.C. ; Yap, Zhi Min ; Letteboer, Stef J.F. ; Taylor, S. Paige ; 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. ; Witman, George B. ; Al-Turki, Saeed ; Anderson, Carl ; Anney, Richard ; Antony, Dinu ; Asimit, Jennifer ; Ayub, Mohammad ; Barrett, Jeff ; Barroso, Inês ; Bentham, Jamie ; Bhattacharya, Shoumo ; Blackwood, Douglas ; Bobrow, Martin ; Bochukova, Elena ; 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 ; Coates, Guy ; Collier, David ; Cosgrove, Catherine ; Cox, Tony ; Craddock, Nick ; Crooks, Lucy ; Curran, Sarah ; Daly, Allan ; Danecek, Petr ; Davey, Smith George ; Day-Williams, Aaron ; Day, Ian ; Durbin, Richard ; Edkins, Sarah ; Ellis, Peter ; Evans, David ; Farooqi, I. Sadaf ; Fatemifar, Ghazaleh ; Fitzpatrick, David ; Flicek, Paul ; 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 ; Moayyeri, Alireza ; Morris, James ; Muddyman, Dawn ; Muntoni, Francesco ; Northstone, Kate ; O'Donovan, Michael ; O'Rahilly, Stephen ; Onoufriadis, Alexandros ; Oualkacha, Karim ; Owen, Michael ; Palotie, Aarno ; Panoutsopoulou, Kalliope ; Parker, Victoria ; Parr, Jeremy ; Paternoster, Lavinia ; Paunio, Tiina ; Payne, Felicity ; Perry, John ; Pietilainen, Olli ; Plagnol, Vincent ; Quail, Michael A. ; Quaye, Lydia ; Raymond, Lucy ; Rehnström, Karola ; Richards, J. Brent ; 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 ; Pourcain, Beate St ; Clair, David St ; Stalker, Jim ; Surdulescu, Gabriela ; Suvisaari, Jaana ; Tachmazidou, Ioanna ; Tian, Jing ; Timpson, Nic ; Tobin, Martin ; Valdes, Ana ; Van Kogelenberg, Margriet ; Vijayarangakannan, Parthiban ; Wain, Louise ; Walter, Klaudia ; Wang, Jun ; Ward, Kirsten ; Wheeler, Ellie ; Whittall, Ros ; Williams, Hywel ; Williamson, Kathy ; Wilson, Scott G. ; Wong, Kim ; Whyte, Tamieka ; Jiang, Xu Chang ; Zeggini, Eleftheria ; Zhang, Feng ; Zheng, Hou Feng. / TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. In: Nature Communications. 2015 ; Vol. 6.
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    title = "TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport",
    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.",
    author = "Miriam Schmidts and Yuqing Hou and Cort{\'e}s, {Claudio R.} and Mans, {Dorus A.} and Celine Huber and Karsten Boldt and Mitali Patel and {Van Reeuwijk}, Jeroen and Plaza, {Jean Marc} and {Van Beersum}, {Sylvia E.C.} and Yap, {Zhi Min} and Letteboer, {Stef J.F.} and Taylor, {S. Paige} and Warren Herridge and Johnson, {Colin A.} and Scambler, {Peter J.} and Marius Ueffing and Hulya Kayserili and Deborah Krakow and King, {Stephen M.} and Beales, {Philip L.} and Lihadh Al-Gazali and Carol Wicking and Valerie Cormier-Daire and Ronald Roepman and Mitchison, {Hannah M.} and Witman, {George B.} and Saeed Al-Turki and Carl Anderson and Richard Anney and Dinu Antony and Jennifer Asimit and Mohammad Ayub and Jeff Barrett and In{\^e}s Barroso and Jamie Bentham and Shoumo Bhattacharya and Douglas Blackwood and Martin Bobrow and Elena Bochukova and Patrick Bolton and Chris Boustred and Gerome Breen and Brion, {Marie Jo} and Andrew Brown and Mattia Calissano and Keren Carss and Krishna Chatterjee and Lu Chen and Sebhattin Cirak and Peter Clapham and Gail Clement and Guy Coates and David Collier and Catherine Cosgrove and Tony Cox and Nick Craddock and Lucy Crooks and Sarah Curran and Allan Daly and Petr Danecek and Davey, {Smith George} and Aaron Day-Williams and Ian Day and Richard Durbin and Sarah Edkins and Peter Ellis and David Evans and Farooqi, {I. Sadaf} and Ghazaleh Fatemifar and David Fitzpatrick and Paul Flicek and Jamie Floyd and Foley, {A. Reghan} and Chris Franklin and Marta Futema and Louise Gallagher and Tom Gaunt and Daniel Geschwind and Celia Greenwood and Detelina Grozeva and Xiaosen Guo and Hugh Gurling and Deborah Hart and Audrey Hendricks and Peter Holmans and Jie Huang and Humphries, {Steve E.} and Matt Hurles and Pirro Hysi and David Jackson and Yalda Jamshidi and David Jewell and Joyce Chris and Jane Kaye and Thomas Keane and John Kemp and Karen Kennedy and Alastair Kent and Anja Kolb-Kokocinski and Genevieve Lachance and Cordelia Langford and Irene Lee and Rui Li and Yingrui Li and Liu Ryan and Jouko L{\"o}nnqvist and Margarida Lopes and MacArthur, {Daniel G.} and Mangino Massimo and Jonathan Marchini and John Maslen and Shane McCarthy and Peter McGuffin and Andrew McIntosh and Andrew McKechanie and Andrew McQuillin and Yasin Memari and Sarah Metrustry and Josine Min and Alireza Moayyeri and James Morris and Dawn Muddyman and Francesco Muntoni and Kate Northstone and Michael O'Donovan and Stephen O'Rahilly and Alexandros Onoufriadis and Karim Oualkacha and Michael Owen and Aarno Palotie and Kalliope Panoutsopoulou and Victoria Parker and Jeremy Parr and Lavinia Paternoster and Tiina Paunio and Felicity Payne and John Perry and Olli Pietilainen and Vincent Plagnol and Quail, {Michael A.} and Lydia Quaye and Lucy Raymond and Karola Rehnstr{\"o}m and Richards, {J. Brent} and Sue Ring and Ritchie, {Graham R.S.} and Savage, {David B.} and Nadia Schoenmakers and Semple, {Robert K.} and Eva Serra and Hashem Shihab and Shin, {So Youn} and David Skuse and Kerrin Small and Carol Smee and Soler, {Artigas Mar{\'i}a} and Nicole Soranzo and Lorraine Southam and Tim Spector and Pourcain, {Beate St} and Clair, {David St} and Jim Stalker and Gabriela Surdulescu and Jaana Suvisaari and Ioanna Tachmazidou and Jing Tian and Nic Timpson and Martin Tobin and Ana Valdes and {Van Kogelenberg}, Margriet and Parthiban Vijayarangakannan and Louise Wain and Klaudia Walter and Jun Wang and Kirsten Ward and Ellie Wheeler and Ros Whittall and Hywel Williams and Kathy Williamson and Wilson, {Scott G.} and Kim Wong and Tamieka Whyte and Jiang, {Xu Chang} and Eleftheria Zeggini and Feng Zhang and Zheng, {Hou Feng}",
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    Schmidts, M, Hou, Y, Cortés, CR, Mans, DA, Huber, C, Boldt, K, Patel, M, Van Reeuwijk, J, Plaza, JM, Van Beersum, SEC, Yap, ZM, Letteboer, SJF, Taylor, SP, Herridge, W, Johnson, CA, Scambler, PJ, Ueffing, M, Kayserili, H, Krakow, D, King, SM, Beales, PL, Al-Gazali, L, Wicking, C, Cormier-Daire, V, Roepman, R, Mitchison, HM, Witman, GB, Al-Turki, S, Anderson, C, Anney, R, Antony, D, Asimit, J, Ayub, M, Barrett, J, Barroso, I, Bentham, J, Bhattacharya, S, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, P, Boustred, C, Breen, G, Brion, MJ, Brown, A, Calissano, M, Carss, K, Chatterjee, K, Chen, L, Cirak, S, Clapham, P, Clement, G, Coates, G, Collier, D, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Daly, A, Danecek, P, Davey, SG, Day-Williams, A, Day, I, Durbin, R, Edkins, S, Ellis, P, Evans, D, Farooqi, IS, Fatemifar, G, Fitzpatrick, D, Flicek, P, Floyd, J, Foley, AR, Franklin, C, Futema, M, Gallagher, L, Gaunt, T, Geschwind, D, Greenwood, C, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, A, Holmans, P, Huang, J, Humphries, SE, Hurles, M, Hysi, P, Jackson, D, Jamshidi, Y, Jewell, D, Chris, J, Kaye, J, Keane, T, Kemp, J, Kennedy, K, Kent, A, Kolb-Kokocinski, A, Lachance, G, Langford, C, Lee, I, Li, R, Li, Y, Ryan, L, Lönnqvist, J, Lopes, M, MacArthur, DG, Massimo, M, Marchini, J, Maslen, J, McCarthy, S, McGuffin, P, McIntosh, A, McKechanie, A, McQuillin, A, Memari, Y, Metrustry, S, Min, J, Moayyeri, A, Morris, J, Muddyman, D, Muntoni, F, Northstone, K, O'Donovan, M, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, M, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, J, Paternoster, L, Paunio, T, Payne, F, Perry, J, Pietilainen, O, Plagnol, V, Quail, MA, Quaye, L, Raymond, L, Rehnström, K, Richards, JB, Ring, S, Ritchie, GRS, Savage, DB, Schoenmakers, N, Semple, RK, Serra, E, Shihab, H, Shin, SY, Skuse, D, Small, K, Smee, C, Soler, AM, Soranzo, N, Southam, L, Spector, T, Pourcain, BS, Clair, DS, Stalker, J, Surdulescu, G, Suvisaari, J, Tachmazidou, I, Tian, J, Timpson, N, Tobin, M, Valdes, A, Van Kogelenberg, M, Vijayarangakannan, P, Wain, L, Walter, K, Wang, J, Ward, K, Wheeler, E, Whittall, R, Williams, H, Williamson, K, Wilson, SG, Wong, K, Whyte, T, Jiang, XC, Zeggini, E, Zhang, F & Zheng, HF 2015, 'TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport' Nature Communications, vol. 6, 7074. https://doi.org/10.1038/ncomms8074

    TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. / Schmidts, Miriam; Hou, Yuqing; Cortés, Claudio R.; Mans, Dorus A.; Huber, Celine; Boldt, Karsten; Patel, Mitali; Van Reeuwijk, Jeroen; Plaza, Jean Marc; Van Beersum, Sylvia E.C.; Yap, Zhi Min; Letteboer, Stef J.F.; Taylor, S. Paige; 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.; Witman, George B.; Al-Turki, Saeed; Anderson, Carl; Anney, Richard; Antony, Dinu; Asimit, Jennifer; Ayub, Mohammad; Barrett, Jeff; Barroso, Inês; Bentham, Jamie; Bhattacharya, Shoumo; Blackwood, Douglas; Bobrow, Martin; Bochukova, Elena; 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; Coates, Guy; Collier, David; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Daly, Allan; Danecek, Petr; Davey, Smith George; Day-Williams, Aaron; Day, Ian; Durbin, Richard; Edkins, Sarah; Ellis, Peter; Evans, David; Farooqi, I. Sadaf; Fatemifar, Ghazaleh; Fitzpatrick, David; Flicek, Paul; 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; Moayyeri, Alireza; Morris, James; Muddyman, Dawn; Muntoni, Francesco; Northstone, Kate; O'Donovan, Michael; O'Rahilly, Stephen; Onoufriadis, Alexandros; Oualkacha, Karim; Owen, Michael; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Parr, Jeremy; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Perry, John; Pietilainen, Olli; Plagnol, Vincent; Quail, Michael A.; Quaye, Lydia; Raymond, Lucy; Rehnström, Karola; Richards, J. Brent; 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; Pourcain, Beate St; Clair, David St; Stalker, Jim; Surdulescu, Gabriela; Suvisaari, Jaana; Tachmazidou, Ioanna; Tian, Jing; Timpson, Nic; Tobin, Martin; Valdes, Ana; Van Kogelenberg, Margriet; Vijayarangakannan, Parthiban; Wain, Louise; Walter, Klaudia; Wang, Jun; Ward, Kirsten; Wheeler, Ellie; Whittall, Ros; Williams, Hywel; Williamson, Kathy; Wilson, Scott G.; Wong, Kim; Whyte, Tamieka; Jiang, Xu Chang; Zeggini, Eleftheria; Zhang, Feng; Zheng, Hou Feng.

    In: Nature Communications, Vol. 6, 7074, 05.06.2015.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

    AU - Schmidts, Miriam

    AU - Hou, Yuqing

    AU - Cortés, Claudio R.

    AU - Mans, Dorus A.

    AU - Huber, Celine

    AU - Boldt, Karsten

    AU - Patel, Mitali

    AU - Van Reeuwijk, Jeroen

    AU - Plaza, Jean Marc

    AU - Van Beersum, Sylvia E.C.

    AU - Yap, Zhi Min

    AU - Letteboer, Stef J.F.

    AU - Taylor, S. Paige

    AU - Herridge, Warren

    AU - Johnson, Colin A.

    AU - Scambler, Peter J.

    AU - Ueffing, Marius

    AU - Kayserili, Hulya

    AU - Krakow, Deborah

    AU - King, Stephen M.

    AU - Beales, Philip L.

    AU - Al-Gazali, Lihadh

    AU - Wicking, Carol

    AU - Cormier-Daire, Valerie

    AU - Roepman, Ronald

    AU - Mitchison, Hannah M.

    AU - Witman, George B.

    AU - Al-Turki, Saeed

    AU - Anderson, Carl

    AU - Anney, Richard

    AU - Antony, Dinu

    AU - Asimit, Jennifer

    AU - Ayub, Mohammad

    AU - Barrett, Jeff

    AU - Barroso, Inês

    AU - Bentham, Jamie

    AU - Bhattacharya, Shoumo

    AU - Blackwood, Douglas

    AU - Bobrow, Martin

    AU - Bochukova, Elena

    AU - Bolton, Patrick

    AU - Boustred, Chris

    AU - Breen, Gerome

    AU - Brion, Marie Jo

    AU - Brown, Andrew

    AU - Calissano, Mattia

    AU - Carss, Keren

    AU - Chatterjee, Krishna

    AU - Chen, Lu

    AU - Cirak, Sebhattin

    AU - Clapham, Peter

    AU - Clement, Gail

    AU - Coates, Guy

    AU - Collier, David

    AU - Cosgrove, Catherine

    AU - Cox, Tony

    AU - Craddock, Nick

    AU - Crooks, Lucy

    AU - Curran, Sarah

    AU - Daly, Allan

    AU - Danecek, Petr

    AU - Davey, Smith George

    AU - Day-Williams, Aaron

    AU - Day, Ian

    AU - Durbin, Richard

    AU - Edkins, Sarah

    AU - Ellis, Peter

    AU - Evans, David

    AU - Farooqi, I. Sadaf

    AU - Fatemifar, Ghazaleh

    AU - Fitzpatrick, David

    AU - Flicek, Paul

    AU - Floyd, Jamie

    AU - Foley, A. Reghan

    AU - Franklin, Chris

    AU - Futema, Marta

    AU - Gallagher, Louise

    AU - Gaunt, Tom

    AU - Geschwind, Daniel

    AU - Greenwood, Celia

    AU - Grozeva, Detelina

    AU - Guo, Xiaosen

    AU - Gurling, Hugh

    AU - Hart, Deborah

    AU - Hendricks, Audrey

    AU - Holmans, Peter

    AU - Huang, Jie

    AU - Humphries, Steve E.

    AU - Hurles, Matt

    AU - Hysi, Pirro

    AU - Jackson, David

    AU - Jamshidi, Yalda

    AU - Jewell, David

    AU - Chris, Joyce

    AU - Kaye, Jane

    AU - Keane, Thomas

    AU - Kemp, John

    AU - Kennedy, Karen

    AU - Kent, Alastair

    AU - Kolb-Kokocinski, Anja

    AU - Lachance, Genevieve

    AU - Langford, Cordelia

    AU - Lee, Irene

    AU - Li, Rui

    AU - Li, Yingrui

    AU - Ryan, Liu

    AU - Lönnqvist, Jouko

    AU - Lopes, Margarida

    AU - MacArthur, Daniel G.

    AU - Massimo, Mangino

    AU - Marchini, Jonathan

    AU - Maslen, John

    AU - McCarthy, Shane

    AU - McGuffin, Peter

    AU - McIntosh, Andrew

    AU - McKechanie, Andrew

    AU - McQuillin, Andrew

    AU - Memari, Yasin

    AU - Metrustry, Sarah

    AU - Min, Josine

    AU - Moayyeri, Alireza

    AU - Morris, James

    AU - Muddyman, Dawn

    AU - Muntoni, Francesco

    AU - Northstone, Kate

    AU - O'Donovan, Michael

    AU - O'Rahilly, Stephen

    AU - Onoufriadis, Alexandros

    AU - Oualkacha, Karim

    AU - Owen, Michael

    AU - Palotie, Aarno

    AU - Panoutsopoulou, Kalliope

    AU - Parker, Victoria

    AU - Parr, Jeremy

    AU - Paternoster, Lavinia

    AU - Paunio, Tiina

    AU - Payne, Felicity

    AU - Perry, John

    AU - Pietilainen, Olli

    AU - Plagnol, Vincent

    AU - Quail, Michael A.

    AU - Quaye, Lydia

    AU - Raymond, Lucy

    AU - Rehnström, Karola

    AU - Richards, J. Brent

    AU - Ring, Sue

    AU - Ritchie, Graham R.S.

    AU - Savage, David B.

    AU - Schoenmakers, Nadia

    AU - Semple, Robert K.

    AU - Serra, Eva

    AU - Shihab, Hashem

    AU - Shin, So Youn

    AU - Skuse, David

    AU - Small, Kerrin

    AU - Smee, Carol

    AU - Soler, Artigas María

    AU - Soranzo, Nicole

    AU - Southam, Lorraine

    AU - Spector, Tim

    AU - Pourcain, Beate St

    AU - Clair, David St

    AU - Stalker, Jim

    AU - Surdulescu, Gabriela

    AU - Suvisaari, Jaana

    AU - Tachmazidou, Ioanna

    AU - Tian, Jing

    AU - Timpson, Nic

    AU - Tobin, Martin

    AU - Valdes, Ana

    AU - Van Kogelenberg, Margriet

    AU - Vijayarangakannan, Parthiban

    AU - Wain, Louise

    AU - Walter, Klaudia

    AU - Wang, Jun

    AU - Ward, Kirsten

    AU - Wheeler, Ellie

    AU - Whittall, Ros

    AU - Williams, Hywel

    AU - Williamson, Kathy

    AU - Wilson, Scott G.

    AU - Wong, Kim

    AU - Whyte, Tamieka

    AU - Jiang, Xu Chang

    AU - Zeggini, Eleftheria

    AU - Zhang, Feng

    AU - Zheng, Hou Feng

    PY - 2015/6/5

    Y1 - 2015/6/5

    N2 - 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.

    AB - 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.

    UR - http://www.scopus.com/inward/record.url?scp=84930633628&partnerID=8YFLogxK

    U2 - 10.1038/ncomms8074

    DO - 10.1038/ncomms8074

    M3 - Article

    VL - 6

    JO - Nature Communications

    JF - Nature Communications

    SN - 2041-1723

    M1 - 7074

    ER -