{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T01:09:47Z","timestamp":1784941787315,"version":"3.55.0"},"reference-count":53,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,8,29]],"date-time":"2022-08-29T00:00:00Z","timestamp":1661731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012529","name":"Washington State University Vancouver","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012529","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007588","name":"Washington State University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007588","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Zebrafish are an emerging model organism to study the syndromic albinism disorder, Hermansky\u2013Pudlak syndrome (HPS), due to visible pigment development at 24\u2009hours postfertilization, and conserved melanogenesis mechanisms. We describe <jats:italic>crasher,<\/jats:italic> a novel HPS type 10 (HPS10) zebrafish model, with a mutation in AP\u20103 complex subunit delta gene, <jats:italic>ap3d1<\/jats:italic>. Exon 14 of <jats:italic>ap3d1<\/jats:italic> is overexpressed in <jats:italic>crasher<\/jats:italic> mutants, while the expression of <jats:italic>ap3d1<\/jats:italic> as a whole is reduced<jats:italic>. ap3d1<\/jats:italic> knockout in *AB zebrafish recapitulates the mutant <jats:italic>crasher<\/jats:italic> phenotype. We show <jats:italic>ap3d1<\/jats:italic> loss\u2010of\u2010function mutations cause significant expression changes in the melanogenesis genes, dopachrome tautomerase (<jats:italic>dct<\/jats:italic>) and tyrosinase\u2010related protein 1b (<jats:italic>tyrp1b<\/jats:italic>), but not tyrosinase (<jats:italic>tyr<\/jats:italic>). Last, Generally Applicable Gene\u2010set Enrichment (GAGE) analysis suggests autophagy pathway genes are upregulated together in <jats:italic>crasher.<\/jats:italic> Treatment with autophagy\u2010inhibitor, bafilomycin A1, significantly decreases melanophore number in <jats:italic>crasher,<\/jats:italic> suggesting <jats:italic>ap3d1<\/jats:italic> promotes melanophore survival by limiting excessive autophagy. <jats:italic>crasher<\/jats:italic> is a valuable model to explore the regulation of melanogenesis gene expression and pigmentation disease.<\/jats:p>","DOI":"10.1111\/pcmr.13055","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T16:00:08Z","timestamp":1657555208000},"page":"495-505","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>AP<\/scp>\u20103 complex subunit delta gene, <i>ap3d1<\/i>, regulates melanogenesis and melanophore survival via autophagy in zebrafish (<i>Danio rerio<\/i>)"],"prefix":"10.1111","volume":"35","author":[{"given":"Sam J.","family":"Neuffer","sequence":"first","affiliation":[{"name":"School of Molecular Biosciences Washington State University Vancouver  Vancouver WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Beltran\u2010Cardona","sequence":"additional","affiliation":[{"name":"College of Arts and Sciences Washington State University Vancouver  Vancouver WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Jimenez\u2010Perez","sequence":"additional","affiliation":[{"name":"College of Arts and Sciences Washington State University Vancouver  Vancouver WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren F.","family":"Clancey","sequence":"additional","affiliation":[{"name":"College of Arts and Sciences Washington State University Vancouver  Vancouver WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Brown","sequence":"additional","affiliation":[{"name":"College of Arts and Sciences Washington State University Vancouver  Vancouver WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"New","sequence":"additional","affiliation":[{"name":"College of Arts and Sciences Washington State University Vancouver  Vancouver WA USA"},{"name":"Department of Mathematics and Computer Science Ursinus College  Collegeville Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia D.","family":"Cooper","sequence":"additional","affiliation":[{"name":"School of Molecular Biosciences Washington State University Vancouver  Vancouver WA USA"},{"name":"College of Arts and Sciences Washington State University Vancouver  Vancouver WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102015\u201009\u201067163"},{"key":"e_1_2_8_3_1","unstructured":"Andrews S. (2019).Babraham Bioinformatics \u2010 FastQC a quality control tool for high throughput sequence data. Retrieved fromhttps:\/\/www.bioinformatics.babraham.ac.uk\/projects\/fastqc\/."},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12205"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu170"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102148\u20107\u201074"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755\u2010148X.2009.00614.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004270000125"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0065096"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2010.04.023"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2020.03.010"},{"key":"e_1_2_8_12_1","volume-title":"STAR: Ultrafast universal RNA\u2010seq aligner. Bioinformatics","author":"Dobin A.","year":"2013"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti525"},{"key":"e_1_2_8_14_1","unstructured":"Federico J. R. Krishnamurthy K.(2020).Albinism. [Updated 2020 Aug 28]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan. Available from:https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK519018\/"},{"key":"e_1_2_8_15_1","volume-title":"An {R} companion to applied regression","author":"Fox J.","year":"2019"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12929"},{"key":"e_1_2_8_17_1","unstructured":"Gross J.&Ligges U.(2015).nortest: Tests for normality. R package version 1.0\u20104.https:\/\/CRAN.R\u2010project.org\/package=nortest"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201102021"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.saa.2007.09.030"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0067801"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.hdy.6800861"},{"key":"e_1_2_8_22_1","unstructured":"Howell D. C.(2009).Permutation tests for factorial ANOVA designs. Retrieved fromhttps:\/\/www.uvm.edu\/~statdhtx\/StatPages\/PermutationAnova\/PermTestsAnova.Html"},{"key":"e_1_2_8_23_1","volume-title":"Patterns of skin cancer and treatment outcomes for patients with albinism at Kisangani clinic","author":"Inena G.","year":"2020"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0002\u20109394(14)70555\u20100"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.21.5720"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0896\u20106273(00)80519\u2010x"},{"key":"e_1_2_8_27_1","unstructured":"Kassambara A.(2021).rstatix: Pipe\u2010friendly framework for basic statistical tests. R package version 0.7.0.https:\/\/CRAN.R\u2010project.org\/package=rstatix"},{"key":"e_1_2_8_28_1","doi-asserted-by":"crossref","unstructured":"Kawakami A. &Fisher D. E.(2017).The master role of microphthalmia\u2010associated transcription factor in melanocyte and melanoma biology. Laboratory investigation; a journal of technical methods and pathology 97 649\u2013656.https:\/\/doi.org\/10.1038\/labinvest.2017.9","DOI":"10.1038\/labinvest.2017.9"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9840"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/aja.1002030302"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.129684.111"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/anie.201704616"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.17.3757"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt285"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102105\u201010\u2010161"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.ppat.1006785"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.11.017"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3543"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004270050179"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11010\u2010015\u20102337\u2010y"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.9.e45"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1080\/14756366.2016.1256882"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"e_1_2_8_45_1","volume-title":"R: A language and environment for statistical computing","author":"R Core Team","year":"2021"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022\u2010202X.2004.23585.x"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3130447"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.119.4.1203"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0109091"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010019\u20100850\u20107"},{"key":"e_1_2_8_51_1","volume-title":"Zebrafish book: A guide for the laboratory use of zebrafish (Danio rerio)","author":"Westerfield M.","year":"2007"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.21105\/joss.01686"},{"key":"e_1_2_8_53_1","unstructured":"Wickham H. Hester J. &Chang W.(2020).devtools: Tools to make developing R packages easier. R package version 2.3.2.https:\/\/CRAN.R\u2010project.org\/package=devtools"},{"key":"e_1_2_8_54_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz966"}],"container-title":["Pigment Cell &amp; Melanoma Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.13055","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pcmr.13055","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pcmr.13055","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T11:42:03Z","timestamp":1692790923000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pcmr.13055"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,29]]},"references-count":53,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1111\/pcmr.13055"],"URL":"https:\/\/doi.org\/10.1111\/pcmr.13055","archive":["Portico"],"relation":{},"ISSN":["1755-1471","1755-148X"],"issn-type":[{"value":"1755-1471","type":"print"},{"value":"1755-148X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,29]]},"assertion":[{"value":"2021-11-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}