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Despite extensive study, the photoreceptor-specific roles of CEP290 remain unclear. Using advanced microscopy techniques, we investigated the sub-ciliary localization of CEP290 and its role in mouse photoreceptors during development. CEP290 was found throughout the connecting cilium between the microtubules and membrane, with nine-fold symmetry. In the absence of CEP290 ciliogenesis occurs, but the connecting cilium membrane is aberrant, and sub-structures, such as the ciliary necklace and Y-links, are confined to the proximal connecting cilium. Transition zone (TZ) proteins AHI1 and NPHP1 were abnormally restricted to the proximal connecting cilium in the absence of CEP290, whereas other TZ proteins, like NPHP8 and CEP89 were unaffected. Although outer segment disc formation is inhibited in Cep290 mutant retina, we observed large numbers of extracellular vesicles. These results suggest roles for CEP290 in ciliary membrane structure, outer segment disc formation and photoreceptor-specific spatial distribution of a subset of TZ proteins, which collectively lead to failure of outer segment formation and photoreceptor degeneration.<\/jats:p>","DOI":"10.1242\/jcs.263869","type":"journal-article","created":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T10:41:32Z","timestamp":1753353692000},"source":"Crossref","is-referenced-by-count":8,"title":["Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development"],"prefix":"10.1242","volume":"138","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3698-7156","authenticated-orcid":false,"given":"Abigail R.","family":"Moye","sequence":"first","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel (IOB) 1 , Basel 4031 ,","place":["Switzerland"]},{"name":"University of Basel 2 Department of Ophthalmology , , Basel 4031 ,","place":["Switzerland"]},{"name":"Baylor College of Medicine 3 Verna and Marrs McLean Department of Biochemistry and Molecular Biology , , Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Robichaux","sequence":"additional","affiliation":[{"name":"West Virginia University 4 Department of Ophthalmology & Visual Sciences and Department of Biochemistry & Molecular Medicine , , Morgantown, West Virginia 26506 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melina A.","family":"Agosto","sequence":"additional","affiliation":[{"name":"Dalhousie University 5 Retina and Optic Nerve Research Laboratory, Department of Physiology and Biophysics, and Department of Ophthalmology and Visual Sciences , , Halifax, Nova Scotia B3H 4R2 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre P.","family":"Moulin","sequence":"additional","affiliation":[{"name":"Jules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne 6 , 1004 Lausanne ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Graff-Meyer","sequence":"additional","affiliation":[{"name":"Friedrich Miescher Institute for Biomedical Research 7 , Basel 4056 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel (IOB) 1 , Basel 4031 ,","place":["Switzerland"]},{"name":"University of Basel 2 Department of Ophthalmology , , Basel 4031 ,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3518-9352","authenticated-orcid":false,"given":"Theodore G.","family":"Wensel","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine 3 Verna and Marrs McLean Department of Biochemistry and Molecular Biology , , Houston, TX 77030 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2025,9,3]]},"reference":[{"key":"2025090305280740300_JCS263869C116","doi-asserted-by":"publisher","first-page":"100253","DOI":"10.1016\/j.crmeth.2022.100253","article-title":"Rapid 3D-STORM imaging of diverse molecular targets in tissue","volume":"2","author":"Albrecht","year":"2022","journal-title":"Cell Rep Methods"},{"key":"2025090305280740300_JCS263869C1","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1517\/14728222.2012.680956","article-title":"Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases","volume":"16","author":"Anand","year":"2012","journal-title":"Expert Opin Ther. 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