{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T05:23:00Z","timestamp":1775712180396,"version":"3.50.1"},"reference-count":73,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2013,10,1]],"date-time":"2013-10-01T00:00:00Z","timestamp":1380585600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes. HPS patients display oculocutaneous hypopigmentation and bleeding diathesis and, depending on the disease subtype, pulmonary fibrosis, congenital nystagmus, reduced visual acuity, and platelet aggregation deficiency. Mouse models for all known HPS subtypes have contributed greatly to our understanding of the disease, but many of the molecular and cellular mechanisms underlying HPS remain unknown. Here, we characterize ocular defects in the zebrafish (Danio rerio) mutant snow white (snw), which possesses a recessive, missense mutation in hps5 (hps5I76N). Melanosome biogenesis is disrupted in snw\/hps5 mutants, resulting in hypopigmentation, a significant decrease in the number, size, and maturity of melanosomes, and the presence of ectopic multi-melanosome clusters throughout the mutant retina and choroid. snw\/hps5I76N is the first Hps5 mutation identified within the N-terminal WD40 repeat protein\u2013protein binding domain. Through in vitro coexpression assays, we demonstrate that Hps5I76N retains the ability to bind its protein complex partners, Hps3 and Hps6. Furthermore, while Hps5 and Hps6 stabilize each other\u2019s expression, this stabilization is disrupted by Hps5I76N. The snw\/hps5I76N mutant provides a valuable resource for structure\u2013function analyses of Hps5 and enables further elucidation of the molecular and cellular mechanisms underlying HPS.<\/jats:p>","DOI":"10.1534\/genetics.113.154898","type":"journal-article","created":{"date-parts":[[2013,7,27]],"date-time":"2013-07-27T07:29:05Z","timestamp":1374910145000},"page":"481-494","source":"Crossref","is-referenced-by-count":32,"title":["<i>snow white<\/i>, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5"],"prefix":"10.1093","volume":"195","author":[{"given":"Christina M S","family":"Daly","sequence":"first","affiliation":[{"name":"Molecular, Cell and Developmental Biology, Institute for Cell and Molecular Biology, The University of Texas at Austin, Texas 78722"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Willer","sequence":"additional","affiliation":[{"name":"Center for Human Disease Modeling, Cell Biology Department, Duke University, Durham, North Carolina 27710"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"Gregg","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Louisville, Kentucky 40202"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey M","family":"Gross","sequence":"additional","affiliation":[{"name":"Molecular, Cell and Developmental Biology, Institute for Cell and Molecular Biology, The University of Texas at Austin, Texas 78722"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,10,1]]},"reference":[{"issue":"3","key":"2022011219062726500_bib1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/BF00219775","article-title":"Tyrsinase positive oculocutaneous albinism in the goldfish, Carassius auratus l., and ultrastructural and biochemical study of the eye.","volume":"182","author":"Abramowitz","year":"1977","journal-title":"Cell Tissue Res."},{"key":"2022011219062726500_bib2","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng576","article-title":"Mutation of a new gene causes a unique form of Hermansky\u2013Pudlak syndrome in a genetic isolate of central Puerto Rico.","volume":"28","author":"Anikster","year":"2001","journal-title":"Nat. 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