{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T07:08:03Z","timestamp":1760080083671},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"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":[[2017,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A unique eye color, called tiger-eye, segregates in the Puerto Rican Paso Fino (PRPF) horse breed and is characterized by a bright yellow, amber, or orange iris. Pedigree analysis identified a simple autosomal recessive mode of inheritance for this trait. A genome-wide association study (GWAS) with 24 individuals identified a locus on ECA 1 reaching genome-wide significance (Pcorrected = 1.32 \u00d7 10\u22125). This ECA1 locus harbors the candidate gene, Solute Carrier Family 24 (Sodium\/Potassium\/Calcium Exchanger), Member 5 (SLC24A5), with known roles in pigmentation in humans, mice, and zebrafish. Humans with compound heterozygous mutations in SLC24A5 have oculocutaneous albinism (OCA) type 6 (OCA6), which is characterized by dilute skin, hair, and eye pigmentation, as well as ocular anomalies. Twenty tiger-eye horses were homozygous for a nonsynonymous mutation in exon 2 (p.Phe91Tyr) of SLC24A5 (called here Tiger-eye 1), which is predicted to be deleterious to protein function. Additionally, eight of the remaining 12 tiger-eye horses heterozygous for the p.Phe91Tyr variant were also heterozygous for a 628 bp deletion encompassing all of exon 7 of SLC24A5 (c.875-340_1081+82del), which we will call here the Tiger-eye 2 allele. None of the 122 brown-eyed horses were homozygous for either tiger-eye-associated allele or were compound heterozygotes. Further, neither variant was detected in 196 horses from four related breeds not known to have the tiger-eye phenotype. Here, we propose that two mutations in SLC24A5 affect iris pigmentation in tiger-eye PRPF horses. Further, unlike OCA6 in humans, the Tiger-eye 1 mutation in its homozygous state or as a compound heterozygote (Tiger-eye 1\/Tiger-eye 2) does not appear to cause ocular anomalies or a change in coat color in the PRPF horse.<\/jats:p>","DOI":"10.1534\/g3.117.043786","type":"journal-article","created":{"date-parts":[[2017,6,28]],"date-time":"2017-06-28T00:55:14Z","timestamp":1498611314000},"page":"2799-2806","source":"Crossref","is-referenced-by-count":20,"title":["Two Variants in<i>SLC24A5<\/i>Are Associated with \u201cTiger-Eye\u201d Iris Pigmentation in Puerto Rican Paso Fino Horses"],"prefix":"10.1093","volume":"7","author":[{"given":"Maura","family":"Mack","sequence":"first","affiliation":[{"name":"Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, California 95616"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Kowalski","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Tampa, Florida 33606"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Grahn","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, California 95616"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dineli","family":"Bras","sequence":"additional","affiliation":[{"name":"Centro de Especialistas Veterinarios, San Juan, Puerto Rico 00926"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cecilia T","family":"Penedo","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, California 95616"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Bellone","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, California 95616"},{"name":"Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, California 95616"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2017,8,1]]},"reference":[{"key":"2021042109321789200_bib1","doi-asserted-by":"crossref","first-page":"e75639","DOI":"10.1371\/journal.pone.0075639","article-title":"Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.","volume":"8","author":"Andersson","year":"2013","journal-title":"PLoS One"},{"key":"2021042109321789200_bib2","doi-asserted-by":"crossref","first-page":"e78280","DOI":"10.1371\/journal.pone.0078280","article-title":"Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.","volume":"8","author":"Bellone","year":"2013","journal-title":"PLoS One"},{"key":"2021042109321789200_bib3","doi-asserted-by":"crossref","first-page":"e1003440","DOI":"10.1371\/journal.pcbi.1003440","article-title":"PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations.","volume":"10","author":"Bendl","year":"2014","journal-title":"PLoS Comput. 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