{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T20:05:48Z","timestamp":1792699548701,"version":"4.5.0"},"reference-count":60,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T00:00:00Z","timestamp":1718236800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>This study investigated the dominant blue eyes (DBE) trait linked to hearing impairment and variable white spotting in Maine Coon cats. Fifty-eight animals descending from 2 different DBE lineages, the Dutch and the Topaz lines, were sampled. They comprised 48 cats from the Dutch bloodline, including 9 green-eyed and 31 blue-eyed cats, with some individuals exhibiting signs of deafness, and 8 stillborn kittens. Samples from the Topaz lineage included 10 blue-eyed animals. A brainstem auditory evoked response test revealed a reduced to absent response to auditory stimuli and absent physiological waveforms in all of the 8 examined DBE animals. We sequenced the genome of 2 affected cats from the Dutch line and searched for variants in 19 candidate genes for the human Waardenburg syndrome and pigmentary disorders. This search yielded 9 private protein-changing candidate variants in the genes PAX3, EDN3, KIT, OCA2, SLC24A5, HERC2, and TYRP1. The genotype\u2013phenotype cosegregation was observed for the PAX3 variant within all animals from the Dutch lineage. The mutant allele was absent from 461 control genomes and 241 additionally genotyped green-eyed Maine Coons. We considered the PAX3 variant as the most plausible candidate\u2014a heterozygous nonsense single base pair substitution in exon 6 of PAX3 (NC_051841.1:g.205,787,310G&amp;gt;A, XM_019838731.3:c.937C&amp;gt;T, XP_019694290.1:p.Gln313*), predicted to result in a premature stop codon. PAX3 variants cause auditory\u2013pigmentary syndrome in humans, horses, and mice. Together with the comparative data from other species, our findings strongly suggest PAX3:c.937C&amp;gt;T (OMIA:001688-9685) as the most likely candidate variant for the DBE, deafness, and minimal white spotting in the Maine Coon Dutch line. Finally, we propose the designation of DBERE (Rociri Elvis Dominant Blue Eyes) allele in the domestic cat.<\/jats:p>","DOI":"10.1093\/g3journal\/jkae131","type":"journal-article","created":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T13:31:45Z","timestamp":1718285505000},"source":"Crossref","is-referenced-by-count":6,"title":["<i>PAX3<\/i> haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome"],"prefix":"10.1093","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7043-3117","authenticated-orcid":false,"given":"Gabriela","family":"Rudd Garces","sequence":"first","affiliation":[{"name":"Institute of Animal Breeding and Genetics, Justus Liebig University Giessen , 35390 Giessen , Germany"},{"name":"Generatio GmbH , 69115 Heidelberg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Farke","sequence":"additional","affiliation":[{"name":"Clinic for Small Animals, Neurosurgery, Neuroradiology and Clinical Neurology, Justus Liebig University Giessen , 35392 Giessen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin J","family":"Schmidt","sequence":"additional","affiliation":[{"name":"Clinic for Small Animals, Neurosurgery, Neuroradiology and Clinical Neurology, Justus Liebig University Giessen , 35392 Giessen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6521-1285","authenticated-orcid":false,"given":"Anna","family":"Letko","sequence":"additional","affiliation":[{"name":"Vetsuisse Faculty, Institute of Genetics, University of Bern , 3012 Bern , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja","family":"Schirl","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, LABOKLIN GmbH & Co. KG , 97688 Bad Kissingen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Abitbol","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Claude Bernard Lyon, VetAgro Sup , 69280 Marcy-l\u2019Etoile , France"},{"name":"Institut NeuroMyoG\u00e8ne INMG-PNMG, CNRS UMR5261, INSERM U1315, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Claude Bernard Lyon 1 , Rockefeller, 69008 Lyon , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":false,"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Vetsuisse Faculty, Institute of Genetics, University of Bern , 3012 Bern , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie A","family":"Lyons","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri , Columbia, MO 65211 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gesine","family":"L\u00fchken","sequence":"additional","affiliation":[{"name":"Institute of Animal Breeding and Genetics, Justus Liebig University Giessen , 35390 Giessen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,6,13]]},"reference":[{"issue":"6","key":"2024092413423854600_jkae131-B1","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1054\/bjoc.2001.2008","article-title":"UK Children\u2019s Cancer Study Group (UKCCSG) and the UK Cancer Cytogenetics Group. 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