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Rhodopsin mislocalization is the primary factor leading to rod photoreceptor dysfunction and degeneration in autosomal dominant retinitis pigmentosa (adRP) caused by class I mutations. In this study, we report a new knock\u2010in mouse model that harbors a class I Q344X mutation in the endogenous rhodopsin gene, which causes rod photoreceptor degeneration in an autosomal dominant pattern. In\n                    <jats:italic>Rho<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Q344X\/+<\/jats:italic>\n                    <\/jats:sup>\n                    mice, mRNA transcripts from the wild\u2010type (\n                    <jats:italic>Rho<\/jats:italic>\n                    ) and\n                    <jats:italic>Rho<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Q344X<\/jats:italic>\n                    <\/jats:sup>\n                    mutant rhodopsin alleles are expressed at equal levels. However, the amount of RHO\n                    <jats:sup>Q344X<\/jats:sup>\n                    mutant protein is 2.7 times lower than that of wild\u2010type rhodopsin, a finding consistent with the rapid degradation of the mutant protein. Immunofluorescence microscopy indicates that RHO\n                    <jats:sup>Q344X<\/jats:sup>\n                    is mislocalized to the inner segment and outer nuclear layers of rod photoreceptors in both\n                    <jats:italic>Rho<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Q344X\/+<\/jats:italic>\n                    <\/jats:sup>\n                    and\n                    <jats:italic>Rho<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Q344X\/Q344X<\/jats:italic>\n                    <\/jats:sup>\n                    mice, confirming the essential role of the C\u2010terminal VxPx motif in promoting OS delivery of rhodopsin. The mislocalization of RHO\n                    <jats:sup>Q344X<\/jats:sup>\n                    is associated with the concurrent mislocalization of wild\u2010type rhodopsin in\n                    <jats:italic>Rho<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>Q344X\/+<\/jats:italic>\n                    <\/jats:sup>\n                    mice. To understand the global changes in proteostasis, we conducted quantitative proteomics analysis and found attenuated expression of rod\u2010specific OS membrane proteins accompanying reduced expression of ciliopathy causative gene products, including constituents of BBSome and axonemal dynein subunit. Those studies unveil a novel negative feedback regulation involving ciliopathy\u2010associated proteins. In this process, a defect in the trafficking signal leads to a reduced quantity of the trafficking apparatus, culminating in a widespread reduction in the transport of ciliary proteins.\n                  <\/jats:p>","DOI":"10.1096\/fj.202302260rr","type":"journal-article","created":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T14:50:00Z","timestamp":1713797400000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Rhodopsin mislocalization drives ciliary dysregulation in a novel autosomal dominant retinitis pigmentosa knock\u2010in mouse model"],"prefix":"10.1096","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7790-3115","authenticated-orcid":false,"given":"Shimpei","family":"Takita","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Eugene and Marilyn Glick Eye Institute Indiana University School of Medicine  Indianapolis Indiana USA"},{"name":"Stark Neurosciences 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