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Genealogical data indicated an autosomal recessive inheritance pattern. A single candidate region was identified by genome\u2010wide association study and SNP\u2010based homozygosity mapping. Within that region, we further identified <jats:italic>HPS5<\/jats:italic> (<jats:italic>HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2<\/jats:italic>) as a strong candidate gene, since <jats:italic>HPS5<\/jats:italic> variants have been identified in humans and animals with Hermansky\u2013Pudlak syndrome 5 or oculocutaneous albinism. A homozygous c.2571\u20101G&gt;A acceptor splice\u2010site variant located in intron 16 of <jats:italic>HPS5<\/jats:italic> was identified in pink\u2010eye cats. Segregation of the variant was 100% consistent with the inheritance pattern. Genotyping of 170 cats from 19 breeds failed to identify a single carrier in non\u2010Donskoy cats. The c.2571\u20101G&gt;A variant leads to <jats:italic>HPS5<\/jats:italic> exon\u201016 splicing that is predicted to produce a 52 amino acids in\u2010frame deletion in the protein. These results support an association of the pink\u2010eye phenotype with the c.2571\u20101G&gt;A variant. The pink\u2010eye Donskoy cat extends the panel of reported <jats:italic>HPS5<\/jats:italic> variants and offers an opportunity for in\u2010depth exploration of the phenotypic consequences of a new <jats:italic>HPS5<\/jats:italic> variant.<\/jats:p>","DOI":"10.1111\/pcmr.12906","type":"journal-article","created":{"date-parts":[[2020,6,18]],"date-time":"2020-06-18T20:15:45Z","timestamp":1592511345000},"page":"814-825","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice\u2010site variant in <i>Hermansky<\/i>\u2013<i>Pudlak Syndrome 5<\/i> gene"],"prefix":"10.1111","volume":"33","author":[{"given":"Marina","family":"M\u00e9riot","sequence":"first","affiliation":[{"name":"Univ Lyon  VetAgro Sup Marcy l'Etoile France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christophe","family":"Hitte","sequence":"additional","affiliation":[{"name":"Univ Rennes CNRS, IGDR\u2010UMR 6290 Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maud","family":"Rimbault","sequence":"additional","affiliation":[{"name":"Univ Rennes CNRS, IGDR\u2010UMR 6290 Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Dufaure de Citres","sequence":"additional","affiliation":[{"name":"Antagene La Tour de Salvagny France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Gache","sequence":"additional","affiliation":[{"name":"Univ Lyon CNRS UMR5310  INSERM U1217 Universit\u00e9 Claude Bernard Lyon I Institut NeuroMyoG\u00e8ne Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5615-7897","authenticated-orcid":false,"given":"Marie","family":"Abitbol","sequence":"additional","affiliation":[{"name":"Univ Lyon  VetAgro Sup Marcy l'Etoile France"},{"name":"Univ Lyon CNRS UMR5310  INSERM U1217 Universit\u00e9 Claude Bernard Lyon I Institut NeuroMyoG\u00e8ne Lyon France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12503"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2017.1361019"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/tra.12646"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.22.10881"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.113.154898"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201410026"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(03)00128-3"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2006.00514.x"},{"key":"e_1_2_9_12_1","volume-title":"StatPearls","author":"Federico J. 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