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

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dc.contributor.coauthorSchmidts, Miriam
dc.contributor.coauthorHou, Yuqing
dc.contributor.coauthorCortes, Claudio R.
dc.contributor.coauthorMans, Dorus A.
dc.contributor.coauthorHuber, Celine
dc.contributor.coauthorBoldt, Karsten
dc.contributor.coauthorPatel, Mitali
dc.contributor.coauthorvan Reeuwijk, Jeroen
dc.contributor.coauthorPlaza, Jean-Marc
dc.contributor.coauthorvan Beersum, Sylvia E. C.
dc.contributor.coauthorYap, Zhi Min
dc.contributor.coauthorLetteboer, Stef J. F.
dc.contributor.coauthorTaylor, S. Paige
dc.contributor.coauthorHerridge, Warren
dc.contributor.coauthorJohnson, Colin A.
dc.contributor.coauthorScambler, Peter J.
dc.contributor.coauthorUeffing, Marius
dc.contributor.coauthorKrakow, Deborah
dc.contributor.coauthorKing, Stephen M.
dc.contributor.coauthorBeales, Philip L.
dc.contributor.coauthorAl-Gazali, Lihadh
dc.contributor.coauthorWicking, Carol
dc.contributor.coauthorCormier-Daire, Valerie
dc.contributor.coauthorRoepman, Ronald
dc.contributor.coauthorMitchison, Hannah M.
dc.contributor.coauthorWitman, George B.
dc.contributor.departmentSchool of Medicine
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2024-11-09T11:44:59Z
dc.date.issued2015
dc.description.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.
dc.description.fulltextYES
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.openaccessYES
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuEU - TÜBİTAK
dc.description.sponsorshipWellcome Trust
dc.description.sponsorshipNational Institutes of Health (NIH)
dc.description.sponsorshipRobert W. Booth Endowment at UMMS
dc.description.sponsorshipNIH National Institute of General Medical Sciences Institutional Development Award (IDeA)
dc.description.sponsorshipSir Jules Thorn Award for Biomedical Research
dc.description.sponsorshipRosetree's Trust
dc.description.sponsorshipBritish Heart Foundation
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TÜBİTAK)
dc.description.sponsorshipCRANIRARE-2
dc.description.sponsorshipEuropean Research Area Network (ERA-Net)
dc.description.sponsorshipAustralian National Health and Medical Research Council grant
dc.description.sponsorshipUniversity of Queensland (UQ) Vice Chancellor's Senior Research Fellowship
dc.description.sponsorshipUQ International PhD Scholarship
dc.description.sponsorshipNetherlands Organization for Scientific Research
dc.description.sponsorshipDutch Kidney Foundation
dc.description.sponsorshipGreat Ormond Street Hospital Children's Charity
dc.description.sponsorshipAction Medical Research UK Clinical Training Fellowship
dc.description.sponsorshipRadboud Excellence Initiative and Radboud Hypatia Fellowship
dc.description.sponsorshipGerman Research Foundation (DFG)
dc.description.sponsorshipFP7 grant
dc.description.sponsorshipEuropean Community
dc.description.sponsorshipAction Medical Research
dc.description.sponsorshipBritish Heart Foundation
dc.description.sponsorshipGreat Ormond Street Hospital Childrens Charity
dc.description.sponsorshipMedical Research Council
dc.description.sponsorshipNational Institute for Health Research
dc.description.versionPublisher version
dc.description.volume6
dc.identifier.doi10.1038/ncomms8074
dc.identifier.eissn2041-1723
dc.identifier.embargoNO
dc.identifier.filenameinventorynoIR00292
dc.identifier.quartileQ1
dc.identifier.scopus2-s2.0-84930633628
dc.identifier.urihttps://doi.org/10.1038/ncomms8074
dc.identifier.wos357164100001
dc.keywordsRib-Polydactyly syndrome
dc.keywordsLight intermediate chain
dc.keywordsChlamydomonas flagella
dc.keywordsCytoplasmic dynein-2
dc.keywordsDync2h1 mutations
dc.keywordsPrimary cilia
dc.keywordsArm dynein
dc.keywordsProtein
dc.keywordsIft
dc.keywordsCiliopathies
dc.language.isoeng
dc.publisherNature Publishing Group (NPG)
dc.relation.grantnoWT091310
dc.relation.grantnoRO1 AR062651
dc.relation.grantnoR01 AR066124
dc.relation.grantnoR01 GM051293
dc.relation.grantnoR37 GM030626
dc.relation.grantnoP20 GM103449
dc.relation.grantnoJTA/09
dc.relation.grantnoA465
dc.relation.grantno112S398
dc.relation.grantnoAPP1045464
dc.relation.grantnoNWO Vici-865.12.005
dc.relation.grantnoCP11.18
dc.relation.grantnoRTF-1411
dc.relation.grantno1140
dc.relation.grantno278568
dc.relation.grantno241955
dc.relation.grantno1794
dc.relation.grantnoRG/10/13/28570
dc.relation.grantnoV1299
dc.relation.grantnoG0800509
dc.relation.grantnoMR/L010305/1
dc.relation.grantnoNF-SI-0513-10008
dc.relation.ispartofNature Communications
dc.relation.urihttp://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/1315
dc.subjectMultidisciplinary sciences
dc.titleTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit2School of Medicine
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relation.isParentOrgUnitOfPublication.latestForDiscovery17f2dc8e-6e54-4fa8-b5e0-d6415123a93e

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