{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T16:44:36Z","timestamp":1789231476863,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T00:00:00Z","timestamp":1748908800000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Feline minimal white spotting associated with blue eyes, a trait called DBE by breeders for dominant blue eyes, was selected recently to create various lineages of cats and the Celestial breed. Previously, we identified three <jats:italic>Paired Box\u00a03<\/jats:italic> (<jats:italic>PAX3<\/jats:italic>) gene variants that account for some of the DBE phenotypes in cats, confirming different founding effects. Using a candidate gene approach, we identified a fourth <jats:italic>PAX3<\/jats:italic> variant in a purebred Maine Coon lineage segregating for DBE and lacking a previously identified genomic variant. Segregation of the variant was consistent with the dominant inheritance pattern observed in this DBE lineage called the \u201cAgostino line\u201d by breeders. This <jats:italic>PAX3<\/jats:italic>:c.160del frameshift variant, located in <jats:italic>PAX3<\/jats:italic> exon 2, was predicted to produce a truncated PAX3 protein: PAX3:p.(His54ThrTer108) that would lack 78% of the amino acids of the wildtype protein. All 13 DBE Maine Coon cats from the line were heterozygous for the variant, that was absent in all non\u2010DBE Maine Coon cats from the line and in all control cat genomes (<jats:italic>n<\/jats:italic>\u2009&gt;\u2009300). We propose that this <jats:italic>PAX3<\/jats:italic>:c.160del variant represents the <jats:italic>DBE<\/jats:italic><jats:sup><jats:italic>AGO<\/jats:italic><\/jats:sup> (<jats:italic>Agostino Dominant Blue Eyes<\/jats:italic>) allele in the domestic cat. In addition, we improved the phenotypic description of DBE in Maine Coon cats, highlighting the need to reassess the prevalence of deafness and revealing the existence of latent cats in the previously described DBE<jats:sup>RE<\/jats:sup> (Rociri Elvis Dominant Blue Eyes) Maine Coon lineage.<\/jats:p>","DOI":"10.1111\/age.70020","type":"journal-article","created":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T12:14:56Z","timestamp":1748952896000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Dominant blue eyes in Maine Coon cats: New <scp><i>PAX3<\/i><\/scp> variant and updated phenotypic data"],"prefix":"10.1111","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5615-7897","authenticated-orcid":false,"given":"Marie","family":"Abitbol","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Lyon VetAgro Sup  Marcy\u2010l'Etoile France"},{"name":"Institut NeuroMyoG\u00e8ne INMG\u2010PGNM, CNRS UMR5261, INSERM U1315, Facult\u00e9 de M\u00e9decine Rockefeller Universit\u00e9 Claude Bernard Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Cloquell","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine University of Glasgow  Glasgow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Kaczmarska","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine University of Glasgow  Glasgow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Holmes","sequence":"additional","affiliation":[{"name":"School of Veterinary Medicine University of Glasgow  Glasgow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2032-0840","authenticated-orcid":false,"given":"Gesine","family":"L\u00fchken","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Tierzucht Und Haustiergenetik Justus\u2010Liebig\u2010Universit\u00e4t  Giessen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Macaulay","sequence":"additional","affiliation":[{"name":"Independent Researcher  Ayr UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.13433"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ani14131845"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fvets.2024.1497817"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11060682"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1534\/g3.114.013425"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0080642"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.13059"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/g3journal\/jkae131"},{"issue":"29","key":"e_1_2_6_10_1","first-page":"1","article-title":"The genetics of deafness in domestic animals","volume":"2","author":"Strain G.M.","year":"2015","journal-title":"Frontiers in Veterinary Science"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.70020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T02:53:40Z","timestamp":1750647220000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.70020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1111\/age.70020"],"URL":"https:\/\/doi.org\/10.1111\/age.70020","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6]]},"assertion":[{"value":"2025-03-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70020"}}