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

by Cormier-Daire, Valerie , van Reeuwijk, Jeroen , Yap, Zhi Min , Ueffing, Marius , Wicking, Carol , Al-Gazali, Lihadh , Witman, George B. , Cortés, Claudio R. , Patel, Mitali , Hou, Yuqing , Mans, Dorus A. , Mitchison, Hannah M. , Taylor, S. Paige , Johnson, Colin A. , Boldt, Karsten , Beales, Philip L. , Herridge, Warren , Letteboer, Stef J. F. , Plaza, Jean-Marc , Huber, Celine , van Beersum, Sylvia E. C. , Kayserili, Hulya , King, Stephen M. , Roepman, Ronald , Schmidts, Miriam , Scambler, Peter J. , Krakow, Deborah

in 59 / 631/208/737 / 631/80/86 / 64 / 64/116 / 692/420/2489/144 / 692/699/1670/427 / 82 / 82/1 / 82/29 / 82/51 / 82/58 / 82/62 / 82/80 / Animals / Chlamydomonas reinhardtii / Cytoskeletal Proteins / Dyneins - genetics / Dystrophy / Ellis-Van Creveld Syndrome - genetics / Embryonic growth stage / Flagella - physiology / Gene Knockdown Techniques / HEK293 Cells / Humanities and Social Sciences / Humans / Mice / multidisciplinary / Mutation / Penetrance / Science / Science (multidisciplinary) / Zebrafish

2015

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

2015

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2015

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Journal Article

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

Cormier-Daire, Valerie,

van Reeuwijk, Jeroen,

Yap, Zhi Min,

Ueffing, Marius,

Wicking, Carol,

Al-Gazali, Lihadh,

Witman, George B.,

Cortés, Claudio R.,

Patel, Mitali,

Hou, Yuqing,

Mans, Dorus A.,

Mitchison, Hannah M.,

Taylor, S. Paige,

Johnson, Colin A.,

Boldt, Karsten,

Beales, Philip L.,

Herridge, Warren,

Letteboer, Stef J. F.,

Plaza, Jean-Marc,

Huber, Celine,

van Beersum, Sylvia E. C.,

Kayserili, Hulya,

King, Stephen M.,

Roepman, Ronald,

Schmidts, Miriam,

Scambler, Peter J.,

Krakow, Deborah

2015

Overview

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. Severe congenital development defects such as Jeune syndrome can result from the malfunction of primary cilia and dynein. Here Schmidts et al . report unique biallelic null mutations in a gene encoding a dynein light chain, helping to explain the nature of ciliopathies in human patients.

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Publisher

Nature Publishing Group UK,Nature Publishing Group,Nature Pub. Group

Subject

/ 631/208/737

/ 631/80/86

/ 64

/ 64/116

/ 692/420/2489/144

/ 692/699/1670/427

/ 82