{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T02:58:54Z","timestamp":1791773934892,"version":"4.3.4"},"reference-count":72,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,10,1]],"date-time":"2022-10-01T00:00:00Z","timestamp":1664582400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Northwestern Feinberg School of Medicine and Lurie Children\u2019s Surgical Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JDB"],"abstract":"<jats:p>Most cases of Stickler syndrome are due to autosomal-dominant COL2A1 gene mutations leading to abnormal type II collagen. Ocular findings include axial eye lengthening with vitreal degeneration and early-onset glaucoma, which can result in vision loss. Although COL2A1 is a major player in cartilage and bone formation, its specific role in eye development remains elusive. We investigated the role of Col2a1a in neural crest migration and differentiation during early zebrafish eye development. In situ hybridization, immunofluorescence, live imaging, exogenous treatments [10 \u03bcM diethylaminobenzaldehyde (DEAB), 100 nM all-trans retinoic acid (RA) and 1\u20133% ethanol (ETOH)] and morpholino oligonucleotide (MO) injections were used to analyze wildtype Casper (roy\u2212\/\u2212;nacre\u2212\/\u2212), TgBAC(col2a1a::EGFP), Tg(sox10::EGFP) and Tg(foxd3::EGFP) embryos. Col2a1a colocalized with Foxd3- and Sox10-positive cells in the anterior segment and neural crest-derived jaw. Col2a1a expression was regulated by RA and inhibited by 3% ETOH. Furthermore, MO knockdown of Col2a1a delayed jaw formation and disrupted the ocular anterior segment neural crest migration of Sox10-positive cells. Interestingly, human COL2A1 protein rescued the MO effects. Altogether, these results suggest that Col2a1a is a downstream target of RA in the cranial neural crest and is required for both craniofacial and eye development.<\/jats:p>","DOI":"10.3390\/jdb10040042","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T23:39:31Z","timestamp":1665272371000},"page":"42","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Zebrafish Model of Stickler Syndrome Suggests a Role for Col2a1a in the Neural Crest during Early Eye Development"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6585-1680","authenticated-orcid":false,"given":"Antionette L.","family":"Williams","sequence":"first","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, 225 E. Chicago Ave., Chicago, IL 60611, USA"},{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave., Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brenda L.","family":"Bohnsack","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, 225 E. Chicago Ave., Chicago, IL 60611, USA"},{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, 645 N. Michigan Ave., Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Boothe, M., Morris, R., and Robin, N. (2020). Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation. J. Personal. 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