{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T16:28:50Z","timestamp":1790267330810,"version":"4.1.0"},"reference-count":61,"publisher":"Oxford University Press (OUP)","issue":"16","license":[{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"European Union\u2019s Seventh Framework Programme","award":["FP7\/2007-2013"],"award-info":[{"award-number":["FP7\/2007-2013"]}]},{"name":"European Union\u2019s Seventh Framework Programme","award":["305608"],"award-info":[{"award-number":["305608"]}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","award":["NNF15OC0014164"],"award-info":[{"award-number":["NNF15OC0014164"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["DEQ20130326532"],"award-info":[{"award-number":["DEQ20130326532"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-IAHU-01"],"award-info":[{"award-number":["ANR-10-IAHU-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-10-IAHY-01"],"award-info":[{"award-number":["ANR-10-IAHY-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in genes encoding components of the intraflagellar transport (IFT) complexes have previously been associated with a spectrum of diseases collectively termed ciliopathies. Ciliopathies relate to defects in the formation or function of the cilium, a sensory or motile organelle present on the surface of most cell types. IFT52 is a key component of the IFT-B complex and ensures the interaction of the two subcomplexes, IFT-B1 and IFT-B2. Here, we report novel IFT52 biallelic mutations in cases with a short-rib thoracic dysplasia (SRTD) or a congenital anomaly of kidney and urinary tract (CAKUT). Combining in vitro and in vivo studies in zebrafish, we showed that SRTD-associated missense mutation impairs IFT-B complex assembly and IFT-B2 ciliary localization, resulting in decreased cilia length. In comparison, CAKUT-associated missense mutation has a mild pathogenicity, thus explaining the lack of skeletal defects in CAKUT case. In parallel, we demonstrated that the previously reported homozygous nonsense IFT52 mutation associated with Sensenbrenner syndrome [Girisha et al. (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clin. Genet., 90, 536\u2013539] leads to exon skipping and results in a partially functional protein. Finally, our work uncovered a novel role for IFT52 in microtubule network regulation. We showed that IFT52 interacts and partially co-localized with centrin at the distal end of centrioles where it is involved in its recruitment and\/or maintenance. Alteration of this function likely contributes to centriole splitting observed in Ift52\u2212\/\u2212 cells. Altogether, our findings allow a better comprehensive genotype\u2013phenotype correlation among IFT52-related cases and revealed a novel, extra-ciliary role for IFT52, i.e. disruption may contribute to pathophysiological mechanisms.<\/jats:p>","DOI":"10.1093\/hmg\/ddz091","type":"journal-article","created":{"date-parts":[[2019,4,30]],"date-time":"2019-04-30T03:06:45Z","timestamp":1556593605000},"page":"2720-2737","source":"Crossref","is-referenced-by-count":30,"title":["Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion"],"prefix":"10.1093","volume":"28","author":[{"given":"Marie Alice","family":"Dupont","sequence":"first","affiliation":[{"name":"Laboratory of Hereditary Kidney Diseases, INSERM, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Humbert","sequence":"additional","affiliation":[{"name":"Laboratory of Hereditary Kidney Diseases, INSERM, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Huber","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, INSERM, Paris, France"},{"name":"Department of Genetics, Reference Centre for Skeletal Dysplasia, Assistance Publique - H\u00f4pitaux de Paris, Necker-Enfants Malades Hospital, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Siour","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, INSERM, Paris, France"},{"name":"Department of Genetics, Reference Centre for Skeletal Dysplasia, Assistance Publique - H\u00f4pitaux de Paris, Necker-Enfants Malades Hospital, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Chiara","family":"Guerrera","sequence":"additional","affiliation":[{"name":"Proteomics Platform 3P5-Necker, Paris Descartes-Sorbonne Paris Cit\u00e9 University, Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM US24\/CNRS UMS3633, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Jung","sequence":"additional","affiliation":[{"name":"Proteomics Platform 3P5-Necker, Paris Descartes-Sorbonne Paris Cit\u00e9 University, Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM US24\/CNRS UMS3633, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anni","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Structural Cell Biology, Max-Planck-Institute of Biochemistry, Martinsried, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurore","family":"Pouliet","sequence":"additional","affiliation":[{"name":"Genomics Core Facility, Imagine Institute and Structure F\u00e9d\u00e9rative de Recherche Necker, INSERM UMR1163 and INSERM US24\/CNRS UMS3633, Paris Descartes-Sorbonne Paris Cit\u00e9 University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriem","family":"Garfa-Traor\u00e9","sequence":"additional","affiliation":[{"name":"Cell Imaging Platform UMS 24, Structure F\u00e9d\u00e9rative de Recherche Necker, Inserm US24\/CNRS UMS3633, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschk\u00e9","sequence":"additional","affiliation":[{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"},{"name":"Bioinformatics Core Facility, Paris Descartes-Sorbonne Paris Cit\u00e9 University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Injeyan","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Millar","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada"},{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Shannon","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katta Mohan","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Mechler","sequence":"additional","affiliation":[{"name":"Assistance Publique - H\u00f4pitaux de Paris, Louis Mourier Hospital, Colombes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esben","family":"Lorentzen","sequence":"additional","affiliation":[{"name":"Department of Structural Cell Biology, Max-Planck-Institute of Biochemistry, Martinsried, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Benmerah","sequence":"additional","affiliation":[{"name":"Laboratory of Hereditary Kidney Diseases, INSERM, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular and Physiopathological bases of osteochondrodysplasia, INSERM, Paris, France"},{"name":"Department of Genetics, Reference Centre for Skeletal Dysplasia, Assistance Publique - H\u00f4pitaux de Paris, Necker-Enfants Malades Hospital, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Jeanpierre","sequence":"additional","affiliation":[{"name":"Laboratory of Hereditary Kidney Diseases, INSERM, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Saunier","sequence":"additional","affiliation":[{"name":"Laboratory of Hereditary Kidney Diseases, INSERM, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Delous","sequence":"additional","affiliation":[{"name":"Laboratory of Hereditary Kidney Diseases, INSERM, Paris, France"},{"name":"Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,5,1]]},"reference":[{"key":"2019080902044415800_ref1","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1083\/jcb.141.4.993","article-title":"Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons","volume":"141","author":"Cole","year":"1998","journal-title":"J. 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Cell Biol."},{"key":"2019080902044415800_ref4","doi-asserted-by":"crossref","first-page":"773","DOI":"10.15252\/embj.201593164","article-title":"Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin-binding IFT-B2 complex","volume":"35","author":"Taschner","year":"2016","journal-title":"EMBO J."},{"key":"2019080902044415800_ref5","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.tibs.2004.06.002","article-title":"GIFT domains: linking eukaryotic intraflagellar transport and glycosylation to bacterial gliding","volume":"29","author":"Beatson","year":"2004","journal-title":"Trends Biochem. Sci."},{"key":"2019080902044415800_ref6","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1097\/MOP.0000000000000194","article-title":"Nephronophthisis and related syndromes","volume":"27","author":"Wolf","year":"2015","journal-title":"Curr. Opin. Pediatr."},{"key":"2019080902044415800_ref7","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1038\/nrm.2017.60","article-title":"Genes and molecular pathways underpinning ciliopathies","volume":"18","author":"Reiter","year":"2017","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2019080902044415800_ref8","doi-asserted-by":"crossref","DOI":"10.1038\/srep34232","article-title":"Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of short-rib polydactyly syndrome","volume":"6","author":"Duran","year":"2016","journal-title":"Sci. Rep."},{"key":"2019080902044415800_ref9","doi-asserted-by":"crossref","first-page":"8666","DOI":"10.1038\/ncomms9666","article-title":"Mutations in TRAF3IP1\/IFT54 reveal a new role for IFT proteins in microtubule stabilization","volume":"6","author":"Bizet","year":"2015","journal-title":"Nat. Commun."},{"key":"2019080902044415800_ref10","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.ajhg.2014.03.017","article-title":"Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome","volume":"94","author":"Lindstrand","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"2019080902044415800_ref11","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1038\/ng2038","article-title":"IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy","volume":"39","author":"Beales","year":"2007","journal-title":"Nat. Genet."},{"key":"2019080902044415800_ref12","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1136\/jmg.2011.088864","article-title":"C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome","volume":"48","author":"Arts","year":"2011","journal-title":"J. Med. Genet."},{"key":"2019080902044415800_ref13","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13630-017-0051-y","article-title":"Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia","volume":"6","author":"Duran","year":"2017","journal-title":"Cilia"},{"key":"2019080902044415800_ref14","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng.756","article-title":"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum","volume":"43","author":"Davis","year":"2011","journal-title":"Nat. Genet."},{"key":"2019080902044415800_ref15","doi-asserted-by":"crossref","first-page":"4012","DOI":"10.1093\/hmg\/ddw241","article-title":"IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome","volume":"25","author":"Zhang","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"2019080902044415800_ref16","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1111\/cge.12762","article-title":"A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy","volume":"90","author":"Girisha","year":"2016","journal-title":"Clin. Genet."},{"key":"2019080902044415800_ref17","doi-asserted-by":"crossref","first-page":"4581","DOI":"10.1167\/iovs.17-23351","article-title":"IFT52 as a novel candidate for ciliopathies involving retinal degeneration","volume":"59","author":"Chen","year":"2018","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2019080902044415800_ref18","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/j.ajhg.2014.05.002","article-title":"Mutations of CEP83 cause infantile nephronophthisis and intellectual disability","volume":"94","author":"Failler","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"2019080902044415800_ref19","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.ajhg.2012.06.017","article-title":"TCTN3 mutations cause Mohr-Majewski syndrome","volume":"91","author":"Thomas","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"2019080902044415800_ref20","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/B978-0-12-381320-6.00011-4","article-title":"Zebrafish assays of ciliopathies","volume":"105","author":"Zaghloul","year":"2011","journal-title":"Methods Cell Biol."},{"key":"2019080902044415800_ref21","doi-asserted-by":"crossref","first-page":"4353","DOI":"10.1091\/mbc.e07-06-0537","article-title":"The zebrafish fleer gene encodes an essential regulator of cilia tubulin polyglutamylation","volume":"18","author":"Pathak","year":"2007","journal-title":"Mol. Biol. 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