{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T14:09:38Z","timestamp":1771423778784,"version":"3.50.1"},"reference-count":45,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"2","license":[{"start":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T00:00:00Z","timestamp":1771372800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trans. Vis. Sci. Tech."],"published-print":{"date-parts":[[2026,2,18]]},"DOI":"10.1167\/tvst.15.2.22","type":"journal-article","created":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T13:30:44Z","timestamp":1771421444000},"page":"22","source":"Crossref","is-referenced-by-count":0,"title":["A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling"],"prefix":"10.1167","volume":"15","author":[{"given":"Dongheon","family":"Surl","sequence":"first","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae-Ik","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Biology, Chungnam National University, Daejeon, South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji-Won","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Biology, Chungnam National University, Daejeon, South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dilan Wellalage","family":"Don","sequence":"additional","affiliation":[{"name":"Department of Biology, Chungnam National University, Daejeon, South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mervyn G.","family":"Thomas","sequence":"additional","affiliation":[{"name":"The University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong-Su","family":"Park","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology and Microbiology & Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangyun","family":"Wei","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology and Microbiology & Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young-Ki","family":"Bae","sequence":"additional","affiliation":[{"name":"Research Institute, National Cancer Center, Goyang-si, Gyeonggi-do, South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinu","family":"Han","sequence":"additional","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheol-Hee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Biology, Chungnam National University, Daejeon, South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1146\/annurev-genom-083118-015230","article-title":"The genetics of human skin and hair pigmentation","volume":"20","author":"Pavan","year":"2019","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"1","key":"bib3","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/cge.12019","article-title":"OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24","volume":"84","author":"Kausar","year":"2013","journal-title":"Clin Genet"},{"issue":"2","key":"bib4","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1167\/iovs.16-20612","article-title":"A Japanese family with autosomal dominant oculocutaneous albinism type 4","volume":"58","author":"Oki","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"Gronskov","year":"2007","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"bib6","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1016\/j.ophtha.2022.02.010","article-title":"Genotypic and phenotypic spectrum of foveal hypoplasia: a multicenter study","volume":"129","author":"Kuht","year":"2022","journal-title":"Ophthalmology"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1186\/1471-2458-6-212","article-title":"Albinism in Africa as a public health issue","volume":"6","author":"Hong","year":"2006","journal-title":"BMC Public Health"},{"issue":"3","key":"bib8","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1086\/382195","article-title":"Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan","volume":"74","author":"Inagaki","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"5","key":"bib9","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1111\/j.1600-0749.2005.00261.x","article-title":"OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean","volume":"18","author":"Inagaki","year":"2005","journal-title":"Pigment Cell Res"},{"issue":"5","key":"bib10","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1086\/324340","article-title":"Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4","volume":"69","author":"Newton","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"6","key":"bib11","doi-asserted-by":"publisher","first-page":"e0129273","DOI":"10.1371\/journal.pone.0129273","article-title":"Membrane-associated transporter protein (MATP) regulates melanosomal pH and influences tyrosinase activity","volume":"10","author":"Bin","year":"2015","journal-title":"PLoS One"},{"issue":"9","key":"bib12","doi-asserted-by":"publisher","first-page":"1454","DOI":"10.1016\/j.ajhg.2023.07.010","article-title":"Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies","volume":"110","author":"Lowther","year":"2023","journal-title":"Am J Hum Genet"},{"issue":"11","key":"bib13","doi-asserted-by":"publisher","first-page":"1916","DOI":"10.1101\/gr.218032.116","article-title":"The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology","volume":"27","author":"Gardner","year":"2017","journal-title":"Genome Res"},{"issue":"4","key":"bib14","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1111\/pcmr.12253","article-title":"Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits","volume":"27","author":"Jagirdar","year":"2014","journal-title":"Pigment Cell Melanoma Res"},{"issue":"5","key":"bib15","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"D1","key":"bib16","doi-asserted-by":"publisher","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"bib17","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1002\/pro.3943","article-title":"UCSF ChimeraX: Structure visualization for researchers, educators, and developers","volume":"30","author":"Pettersen","year":"2021","journal-title":"Protein Sci"},{"issue":"1","key":"bib18","doi-asserted-by":"publisher","first-page":"10839","DOI":"10.1038\/s41467-024-55147-4","article-title":"SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations","volume":"15","author":"Yang","year":"2024","journal-title":"Nat Commun"},{"issue":"8","key":"bib19","doi-asserted-by":"publisher","first-page":"1653","DOI":"10.1016\/j.ophtha.2011.01.028","article-title":"Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?","volume":"118","author":"Thomas","year":"2011","journal-title":"Ophthalmology"},{"issue":"6","key":"bib20","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1002\/jemt.10161","article-title":"Development of pigment cells in the zebrafish embryo","volume":"58","author":"Lister","year":"2002","journal-title":"Microsc Res Tech"},{"issue":"12","key":"bib21","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","article-title":"Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3\/BP4 criteria","volume":"109","author":"Pejaver","year":"2022","journal-title":"Am J Hum Genet"},{"issue":"pt 6","key":"bib22","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1111\/j.1469-1809.2006.00261.x","article-title":"Distribution of the F374 allele of the SLC45A2 (MATP) gene and founder-haplotype analysis","volume":"70","author":"Yuasa","year":"2006","journal-title":"Ann Hum Genet"},{"issue":"5","key":"bib23","doi-asserted-by":"publisher","first-page":"e96886","DOI":"10.1371\/journal.pone.0096886","article-title":"Implications of the admixture process in skin color molecular assessment","volume":"9","author":"Cerqueira","year":"2014","journal-title":"PLoS One"},{"issue":"1","key":"bib24","doi-asserted-by":"publisher","first-page":"3939","DOI":"10.1038\/s41467-022-31392-3","article-title":"The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism","volume":"13","author":"Michaud","year":"2022","journal-title":"Nat Commun"},{"issue":"1","key":"bib25","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1111\/pcmr.12727","article-title":"A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients","volume":"32","author":"Okamura","year":"2019","journal-title":"Pigment Cell Melanoma Res"},{"issue":"5","key":"bib26","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1111\/j.1755-148X.2008.00496.x","article-title":"Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects","volume":"21","author":"Rooryck","year":"2008","journal-title":"Pigment Cell Melanoma Res"},{"issue":"1","key":"bib27","doi-asserted-by":"publisher","first-page":"27","DOI":"10.3390\/genes13010027","article-title":"Precision medicine through next-generation sequencing in inherited eye diseases in a Korean cohort","volume":"13","author":"Moon","year":"2021","journal-title":"Genes (Basel)"},{"issue":"10","key":"bib28","doi-asserted-by":"publisher","first-page":"e47398","DOI":"10.1371\/journal.pone.0047398","article-title":"Functional assessment of human coding mutations affecting skin pigmentation using zebrafish","volume":"7","author":"Tsetskhladze","year":"2012","journal-title":"PLoS One"},{"issue":"2","key":"bib29","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1111\/pcmr.12053","article-title":"Slc45a2 and V-ATPase are regulators of melanosomal pH homeostasis in zebrafish, providing a mechanism for human pigment evolution and disease","volume":"26","author":"Dooley","year":"2013","journal-title":"Pigment Cell Melanoma Res"},{"issue":"5","key":"bib30","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1093\/hmg\/ddab033","article-title":"Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish","volume":"30","author":"Lee","year":"2021","journal-title":"Hum Mol Genet"},{"issue":"1","key":"bib31","doi-asserted-by":"publisher","first-page":"3698","DOI":"10.1038\/s41467-020-17452-6","article-title":"Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy","volume":"11","author":"Lee","year":"2020","journal-title":"Nat Commun"},{"issue":"2","key":"bib32","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1111\/cge.14248","article-title":"Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: a novel hypomorphic variant and high prevalence of tethered cord","volume":"103","author":"Wongkittichote","year":"2023","journal-title":"Clin Genet"},{"issue":"6","key":"bib33","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1111\/j.1600-0749.2006.00349.x","article-title":"The Fugu tyrp1 promoter directs specific GFP expression in zebrafish: tools to study the RPE and the neural crest-derived melanophores","volume":"19","author":"Zou","year":"2006","journal-title":"Pigment Cell Res"},{"issue":"1","key":"bib34","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1038\/s41467-023-35786-9","article-title":"A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P(2) and causes lysosome acidification and hypopigmentation","volume":"14","author":"Wang","year":"2023","journal-title":"Nat Commun"},{"issue":"6","key":"bib35","doi-asserted-by":"publisher","first-page":"1127","DOI":"10.1016\/j.ajhg.2019.04.008","article-title":"Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification","volume":"104","author":"Nicoli","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"2","key":"bib36","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1038\/nrm.2015.25","article-title":"Understanding transport by the major facilitator superfamily (MFS): structures pave the way","volume":"17","author":"Quistgaard","year":"2016","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"36","key":"bib37","doi-asserted-by":"publisher","first-page":"14664","DOI":"10.1073\/pnas.1308127110","article-title":"Structure of the YajR transporter suggests a transport mechanism based on the conserved motif A","volume":"110","author":"Jiang","year":"2013","journal-title":"Proc Natl Acad Sci USA"},{"issue":"27","key":"bib38","doi-asserted-by":"publisher","first-page":"19155","DOI":"10.1016\/S0021-9258(18)41755-3","article-title":"Metal-tetracycline\/H+ antiporter of Escherichia coli encoded by transposon Tn10. The role of a conserved sequence motif, GXXXXRXGRR, in a putative cytoplasmic loop between helices 2 and 3","volume":"267","author":"Yamaguchi","year":"1992","journal-title":"J Biol Chem"},{"issue":"27","key":"bib39","doi-asserted-by":"publisher","first-page":"16251","DOI":"10.1074\/jbc.270.27.16251","article-title":"The conserved motif, GXXX(D\/E)(R\/K)XG[X](R\/K)(R\/K), in hydrophilic loop 2\/3 of the lactose permease","volume":"270","author":"Jessen-Marshall","year":"1995","journal-title":"J Biol Chem"},{"issue":"2","key":"bib40","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.jdermsci.2015.10.014","article-title":"Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations","volume":"81","author":"Okamura","year":"2016","journal-title":"J Dermatol Sci"},{"issue":"3","key":"bib41","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1080\/13816810.2021.1881979","article-title":"Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism","volume":"42","author":"Kessel","year":"2021","journal-title":"Ophthalmic Genet"},{"issue":"2","key":"bib42","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1002\/path.2623","article-title":"Dominance and gene dosage balance in health and disease: why levels matter","volume":"220","author":"Veitia","year":"2010","journal-title":"J Pathol"},{"issue":"6","key":"bib43","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1038\/s44320-025-00105-5","article-title":"The genetic interaction map of the human solute carrier superfamily","volume":"21","author":"Wolf","year":"2025","journal-title":"Mol Syst Biol"},{"issue":"3","key":"bib44","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1093\/carcin\/bgaa136","article-title":"Genetic variations in microRNA-binding sites of solute carrier transporter genes as predictors of clinical outcome in colorectal cancer","volume":"42","author":"Bendova","year":"2021","journal-title":"Carcinogenesis"},{"issue":"1","key":"bib45","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jdermsci.2007.12.008","article-title":"Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4","volume":"51","author":"Suzuki","year":"2008","journal-title":"J Dermatol Sci"},{"key":"bib2","first-page":"1993","article-title":"Oculocutaneous albinism and ocular albinism overview","volume-title":"GeneReviews","author":"Thomas","year":"2023"}],"container-title":["Translational Vision Science &amp; Technology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/tvst.arvojournals.org\/article.aspx?doi=10.1167\/tvst.15.2.22","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T13:30:45Z","timestamp":1771421445000},"score":1,"resource":{"primary":{"URL":"http:\/\/tvst.arvojournals.org\/article.aspx?doi=10.1167\/tvst.15.2.22"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,18]]},"references-count":45,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2,2]]}},"URL":"https:\/\/doi.org\/10.1167\/tvst.15.2.22","relation":{},"ISSN":["2164-2591"],"issn-type":[{"value":"2164-2591","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2,18]]}}}