{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T00:35:41Z","timestamp":1780706141741,"version":"3.54.1"},"reference-count":49,"publisher":"The Company of Biologists","issue":"5","license":[{"start":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T00:00:00Z","timestamp":1667779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["JPJSJRP20181701"],"award-info":[{"award-number":["JPJSJRP20181701"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["BB\/S013024\/1"],"award-info":[{"award-number":["BB\/S013024\/1"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"crossref","award":["BB\/S005390\/1"],"award-info":[{"award-number":["BB\/S005390\/1"]}],"id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000883","name":"University of Bristol","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000883","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>The primary cilium is a sensory organelle, receiving signals from the external environment and relaying them into the cell. Mutations in proteins required for transport in the primary cilium result in ciliopathies, a group of genetic disorders that commonly lead to the malformation of organs such as the kidney, liver and eyes and skeletal dysplasias. The motor proteins dynein-2 and kinesin-2 mediate retrograde and anterograde transport, respectively, in the cilium. WDR34 (also known as DYNC2I2), a dynein-2 intermediate chain, is required for the maintenance of cilia function. Here, we investigated WDR34 mutations identified in Jeune syndrome, short-rib polydactyly syndrome and asphyxiating thoracic dysplasia patients. There is a poor correlation between genotype and phenotype in these cases, making diagnosis and treatment highly complex. We set out to define the biological impacts on cilia formation and function of WDR34 mutations by stably expressing the mutant proteins in WDR34-knockout cells. WDR34 mutations led to different spectrums of phenotypes. Quantitative proteomics demonstrated changes in dynein-2 assembly, whereas initiation and extension of the axoneme, localization of intraflagellar transport complex-B proteins, transition zone integrity and Hedgehog signalling were also affected.<\/jats:p>","DOI":"10.1242\/jcs.260073","type":"journal-article","created":{"date-parts":[[2022,10,21]],"date-time":"2022-10-21T03:41:39Z","timestamp":1666323699000},"source":"Crossref","is-referenced-by-count":9,"title":["Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2"],"prefix":"10.1242","volume":"136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2109-1058","authenticated-orcid":false,"given":"Caroline","family":"Shak","sequence":"first","affiliation":[{"name":"School of Biochemistry, Faculty of Life Sciences, University of Bristol 1 Cell Biology Laboratories , , Bristol BS8 1TD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9801-9206","authenticated-orcid":false,"given":"Laura","family":"Vuolo","sequence":"additional","affiliation":[{"name":"School of Biochemistry, Faculty of Life Sciences, University of Bristol 1 Cell Biology Laboratories , , Bristol BS8 1TD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9142-7568","authenticated-orcid":false,"given":"Borhan","family":"Uddin","sequence":"additional","affiliation":[{"name":"School of Biochemistry, Faculty of Life Sciences, University of Bristol 1 Cell Biology Laboratories , , Bristol BS8 1TD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1649-4917","authenticated-orcid":false,"given":"Yohei","family":"Katoh","sequence":"additional","affiliation":[{"name":"Graduate School of Pharmaceutical Sciences, Kyoto University 3 Department of Physiological Chemistry , , Sakyo-ku, Kyoto 606-8501 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Brown","sequence":"additional","affiliation":[{"name":"School of Biochemistry, Faculty of Life Sciences, University of Bristol 1 Cell Biology Laboratories , , Bristol BS8 1TD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9397-9702","authenticated-orcid":false,"given":"Aakash G.","family":"Mukhopadhyay","sequence":"additional","affiliation":[{"name":"Institute of Structural and Molecular Biology 4 , Department of Biological Sciences , , London , WC1E 7HX, UK"},{"name":"Birkbeck, University of London 4 , Department of Biological Sciences , , London , WC1E 7HX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Heesom","sequence":"additional","affiliation":[{"name":"Faculty of Life Sciences, University of Bristol 2 Proteomics Facility , , Bristol BS8 1TD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5277-6730","authenticated-orcid":false,"given":"Anthony J.","family":"Roberts","sequence":"additional","affiliation":[{"name":"Institute of Structural and Molecular Biology 4 , Department of Biological Sciences , , London , WC1E 7HX, UK"},{"name":"Birkbeck, University of London 4 , Department of Biological Sciences , , London , WC1E 7HX, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8967-7277","authenticated-orcid":false,"given":"Nicola","family":"Stevenson","sequence":"additional","affiliation":[{"name":"School of Biochemistry, Faculty of Life Sciences, University of Bristol 1 Cell Biology Laboratories , , Bristol BS8 1TD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7701-7183","authenticated-orcid":false,"given":"Kazuhisa","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Graduate School of Pharmaceutical Sciences, Kyoto University 3 Department of Physiological Chemistry , , Sakyo-ku, Kyoto 606-8501 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5297-3240","authenticated-orcid":false,"given":"David J.","family":"Stephens","sequence":"additional","affiliation":[{"name":"School of Biochemistry, Faculty of Life Sciences, University of Bristol 1 Cell Biology Laboratories , , Bristol BS8 1TD , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2022,11,7]]},"reference":[{"key":"2022110708580982600_JCS260073C1","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. 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Cell Biol."},{"key":"2022110708580982600_JCS260073C7","doi-asserted-by":"publisher","first-page":"2867","DOI":"10.1083\/jcb.201801039","article-title":"Interaction of heterotrimeric kinesin-II with IFT-B-connecting tetramer is crucial for ciliogenesis","volume":"217","author":"Funabashi","year":"2018","journal-title":"J. Cell Biol."},{"key":"2022110708580982600_JCS260073C8","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1083\/jcb.53.2.494","article-title":"The ciliary necklace. A ciliary membrane specialization","volume":"53","author":"Gilula","year":"1972","journal-title":"J. Cell Biol."},{"key":"2022110708580982600_JCS260073C9","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1038\/nrg2774","article-title":"The primary cilium: a signalling centre during vertebrate development","volume":"11","author":"Goetz","year":"2010","journal-title":"Nat. Rev. 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Gynecol."}],"container-title":["Journal of Cell Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.biologists.com\/jcs\/article-pdf\/doi\/10.1242\/jcs.260073\/2199145\/jcs260073.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/journals.biologists.com\/jcs\/article-pdf\/doi\/10.1242\/jcs.260073\/2261219\/jcs260073.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.biologists.com\/jcs\/article-pdf\/doi\/10.1242\/jcs.260073\/2261219\/jcs260073.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T03:58:26Z","timestamp":1667793506000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/jcs\/article\/136\/5\/jcs260073\/280974\/Disease-associated-mutations-in-WDR34-lead-to"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,7]]},"references-count":49,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,3,1]]}},"URL":"https:\/\/doi.org\/10.1242\/jcs.260073","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.03.31.486414","asserted-by":"object"}]},"ISSN":["0021-9533","1477-9137"],"issn-type":[{"value":"0021-9533","type":"print"},{"value":"1477-9137","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,7]]},"article-number":"jcs260073"}}