{"doi":"10.1111/pcmr.13055","title":"<scp>AP</scp>‐3 complex subunit delta gene, <i>ap3d1</i>, regulates melanogenesis and melanophore survival via autophagy in zebrafish (<i>Danio rerio</i>)","abstract":"Zebrafish are an emerging model organism to study the syndromic albinism disorder, Hermansky-Pudlak syndrome (HPS), due to visible pigment development at 24 hours postfertilization, and conserved melanogenesis mechanisms. We describe crasher, a novel HPS type 10 (HPS10) zebrafish model, with a mutation in AP-3 complex subunit delta gene, ap3d1. Exon 14 of ap3d1 is overexpressed in crasher mutants, while the expression of ap3d1 as a whole is reduced. ap3d1 knockout in *AB zebrafish recapitulates the mutant crasher phenotype. We show ap3d1 loss-of-function mutations cause significant expression changes in the melanogenesis genes, dopachrome tautomerase (dct) and tyrosinase-related protein 1b (tyrp1b), but not tyrosinase (tyr). Last, Generally Applicable Gene-set Enrichment (GAGE) analysis suggests autophagy pathway genes are upregulated together in crasher. Treatment with autophagy-inhibitor, bafilomycin A1, significantly decreases melanophore number in crasher, suggesting ap3d1 promotes melanophore survival by limiting excessive autophagy. crasher is a valuable model to explore the regulation of melanogenesis gene expression and pigmentation disease.","journal":"Pigment Cell & Melanoma Research","year":2022,"id":286486,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":4,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9375,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":965785,"name":"David Beltran‐Cardona","orcid":"0000-0002-0930-986X","position":1,"is_corresponding":false},{"id":966248,"name":"Kevin Jimenez‐Perez","orcid":null,"position":2,"is_corresponding":false},{"id":966249,"name":"Lauren F. Clancey","orcid":null,"position":3,"is_corresponding":false},{"id":768057,"name":"Alexander J. Brown","orcid":"0000-0002-2337-1053","position":4,"is_corresponding":false},{"id":965786,"name":"Leslie New","orcid":"0000-0002-2025-0600","position":5,"is_corresponding":false},{"id":681984,"name":"Cynthia D. Cooper","orcid":"0000-0003-3992-027X","position":6,"is_corresponding":false},{"id":933269,"name":"Sam J. Neuffer","orcid":null,"position":0,"is_corresponding":true}],"reference_count":49,"raw_metadata":null,"created_at":"2026-07-19T00:29:52.825777Z","pmid":"35816398","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}