{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T09:41:57Z","timestamp":1792662117930,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T00:00:00Z","timestamp":1789084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T00:00:00Z","timestamp":1789084800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Since the recent publication of the first feline variant of the\n                    <jats:italic>PAX3<\/jats:italic>\n                    (\n                    <jats:italic>Paired Box\u00a03<\/jats:italic>\n                    ) gene associated with blue eyes and minimal white spotting (DBE, Dominant Blue Eyes), three further variants of\n                    <jats:italic>PAX3<\/jats:italic>\n                    have been reported in felines. However, these four variants do not account for all the different feline lines that exhibit DBE. Whole\u2010genome sequencing using short\u2010read and long\u2010read technologies identified a large complex structural variant involving two deletions and an inversion in a purebred line of British shorthair and longhair cats. All 39 British cats with a BDE phenotype were heterozygous for the variant, that was absent in 47 non\u2010DBE cats and 16 DBE cats from other breeding lines. The purebred British shorthair founder female named Nadeya was also heterozygous for the variant, and the segregation of the variant is consistent with dominant inheritance. We named this NC_058375.1:g.[205097674_207411974del;207411975_211290497inv;211290498_211387174del] variant the\n                    <jats:italic>DBE<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>NAD<\/jats:italic>\n                    <\/jats:sup>\n                    (\n                    <jats:italic>Nadeya Dominant Blue Eyes<\/jats:italic>\n                    ) allele. In addition, a candidate gene approach identified a nonsense variant, XM_019838731.3:c.784C&gt;T, in the fifth exon of\n                    <jats:italic>PAX3<\/jats:italic>\n                    in a second breeding line originating from a female named Marusya. The segregation of this nonsense variant is consistent with dominant inheritance, and a perfect genotype\u2013phenotype correlation was observed in the 16 cats from this line, so we propose that this sixth variant of\n                    <jats:italic>PAX3<\/jats:italic>\n                    represents the\n                    <jats:italic>DBE<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>MARU<\/jats:italic>\n                    <\/jats:sup>\n                    (\n                    <jats:italic>Marusya Dominant Blue Eyes<\/jats:italic>\n                    ) allele in the domestic cat. Our study has identified two further variants of the\n                    <jats:italic>PAX3<\/jats:italic>\n                    gene associated with DBE in domestic cats, which will help to improve genotyping of the breeding stock.\n                  <\/jats:p>","DOI":"10.1002\/age.70199","type":"journal-article","created":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T04:50:27Z","timestamp":1789188627000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Additional\n                    <scp>\n                      <i>PAX3<\/i>\n                    <\/scp>\n                    Variants for Dominant Blue Eyes in Cats"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5615-7897","authenticated-orcid":false,"given":"Marie","family":"Abitbol","sequence":"first","affiliation":[{"name":"Univ 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"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-5722-200X","authenticated-orcid":false,"given":"Tess","family":"Eisel\u00e9","sequence":"additional","affiliation":[{"name":"Univ Lyon, VetAgro Sup  Marcy\u2010l'Etoile France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizaveta","family":"Lipovenko","sequence":"additional","affiliation":[{"name":"Independent Researcher  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.70020"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.13433"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ani14131845"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.04.087"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11060682"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.12.030"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.13059"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003811"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/g3journal\/jkae131"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/age.70199","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/age.70199","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/age.70199","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T09:19:56Z","timestamp":1792660796000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/age.70199"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,11]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1002\/age.70199"],"URL":"https:\/\/doi.org\/10.1002\/age.70199","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,11]]},"assertion":[{"value":"2026-06-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70199"}}