{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:30:41Z","timestamp":1790742641600,"version":"4.1.0"},"reference-count":39,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2022,11,26]],"date-time":"2022-11-26T00:00:00Z","timestamp":1669420800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institutes of Health","award":["R01EY028555"],"award-info":[{"award-number":["R01EY028555"]}]},{"name":"National Institutes of Health","award":["R21EY031119"],"award-info":[{"award-number":["R21EY031119"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mutations in the extracellular matrix protein eyes shut homolog (EYS) are a common cause of retinitis pigmentosa, a blinding disease characterized by photoreceptor degeneration. EYS binds to matriglycan, a carbohydrate modification on O-mannosyl glycan substitutions of the cell-surface glycoprotein \u03b1-dystroglycan. Patients with mutations in enzymes required for the biosynthesis of matriglycan exhibit syndromic retinal atrophy, along with brain malformations and congenital muscular dystrophy. Protein O-mannosyltransferase 2 (POMT2) is an enzyme required for the synthesis of O-mannosyl glycans. To evaluate the roles of O-mannosyl glycans in photoreceptor health, we generated protein O-mannosyltransferase 2 (pomt2) mutant zebrafish by CRISPR. pomt2 mutation resulted in a loss of matriglycan and abolished binding of EYS protein to \u03b1-dystroglycan. Mutant zebrafish presented with hydrocephalus and hypoplasia of the cerebellum, as well as muscular dystrophy. EYS protein was enriched near photoreceptor connecting cilia in the wild-type, but its presence and proper localization was significantly reduced in mutant animals. The mutant retina exhibited mis-localization of opsins and increased apoptosis in both rod and cone photoreceptors. Immunofluorescence intensity of G protein subunit alpha transducin 2 (GNAT2) antibody (a general cone marker) and 1D4 antibody (a long double cone marker) in mutant retinas did not differ from wild-type retinas at 1-month post fertilization, but was reduced at 6 months post fertilization, indicating significant cone degeneration. These data suggest that POMT2-mediated O-mannosyl glycosylation is required for EYS protein localization to the connecting cilium region and photoreceptor survival.<\/jats:p>","DOI":"10.3390\/ijms232314809","type":"journal-article","created":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T04:58:50Z","timestamp":1669784330000},"page":"14809","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors"],"prefix":"10.3390","volume":"23","author":[{"given":"Yu","family":"Liu","sequence":"first","affiliation":[{"name":"Center for Vision Research, Departments of Neuroscience and Physiology and of Ophthalmology and Visual Sciences, Upstate Medical University, Syracuse, NY 13210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaclyn M.","family":"Rittershaus","sequence":"additional","affiliation":[{"name":"Center for Vision Research, Departments of Neuroscience and Physiology and of Ophthalmology and Visual Sciences, Upstate Medical University, Syracuse, NY 13210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Yu","sequence":"additional","affiliation":[{"name":"Center for Vision Research, Departments of Neuroscience and Physiology and of Ophthalmology and Visual Sciences, Upstate Medical University, Syracuse, NY 13210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Sager","sequence":"additional","affiliation":[{"name":"Center for Vision Research, Departments of Neuroscience and Physiology and of Ophthalmology and Visual Sciences, Upstate Medical University, Syracuse, NY 13210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huaiyu","family":"Hu","sequence":"additional","affiliation":[{"name":"Center for Vision Research, Departments of Neuroscience and Physiology and of Ophthalmology and Visual Sciences, Upstate Medical University, Syracuse, NY 13210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1038\/ng.241","article-title":"EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa","volume":"40","author":"Barragan","year":"2008","journal-title":"Nat. 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