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; 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

doi:10.1038/ncomms8074

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

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 journal › Article › peer-review

55 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 language	English
Article number	7074
Journal	Nature Communications
Volume	6
DOIs	https://doi.org/10.1038/ncomms8074
Publication status	Published - Jun 5 2015

ASJC Scopus subject areas

General Chemistry
General Biochemistry,Genetics and Molecular Biology
General
General Physics and Astronomy

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10.1038/ncomms8074

Cite this

Schmidts, M., Hou, Y., Cortés, C. R., Mans, D. A., Huber, C., Boldt, K., Patel, M., Van Reeuwijk, J., Plaza, J. M., Van Beersum, S. E. C., Yap, Z. M., Letteboer, S. J. F., Taylor, S. P., Herridge, W., Johnson, C. A., Scambler, P. J., Ueffing, M., Kayserili, H., Krakow, D., ... Zheng, H. F. (2015). TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Communications, 6, Article 7074. https://doi.org/10.1038/ncomms8074

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

@article{0c67caceb53140d4a2941a3082670b89,

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\}",

year = "2015",

month = jun,

day = "5",

doi = "10.1038/ncomms8074",

language = "English",

volume = "6",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Research",

}

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 - https://www.scopus.com/pages/publications/84930633628

UR - https://www.scopus.com/pages/publications/84930633628#tab=citedBy

U2 - 10.1038/ncomms8074

DO - 10.1038/ncomms8074

M3 - Article

C2 - 26044572

AN - SCOPUS:84930633628

SN - 2041-1723

VL - 6

JO - Nature Communications

JF - Nature Communications

M1 - 7074

ER -

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

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