{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:56:55Z","timestamp":1789516615081,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T00:00:00Z","timestamp":1706486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The coat color phenotype \u2018sable\u2019 occurs in the English Cocker Spaniel dog breed. It closely resembles other canine color patterns known as domino\/grizzle\/pied (<jats:italic>e<\/jats:italic><jats:sup><jats:italic>A<\/jats:italic><\/jats:sup> allele) and grizzle\/domino (<jats:italic>e<\/jats:italic><jats:sup><jats:italic>G<\/jats:italic><\/jats:sup> allele) determined by variants in the <jats:italic>melanocortin 1 receptor<\/jats:italic> gene (<jats:italic>MC1R<\/jats:italic>; \u2018extension\u2019 or E locus), a key multi\u2010allele regulator of coat color. We examined genetic variation in <jats:italic>MC1R<\/jats:italic>, and found one new non\u2010synonymous variant, c.250G&gt;A (p.(Asp84Asn)), consistently associated with the English Cocker Spaniel \u2018sable\u2019 phenotype. We propose calling this newly identified allele <jats:italic>e<\/jats:italic><jats:sup><jats:italic>H<\/jats:italic><\/jats:sup> and further show that the <jats:italic>e<\/jats:italic><jats:sup><jats:italic>A<\/jats:italic><\/jats:sup>, <jats:italic>e<\/jats:italic><jats:sup><jats:italic>H<\/jats:italic><\/jats:sup> and <jats:italic>e<\/jats:italic><jats:sup><jats:italic>G<\/jats:italic><\/jats:sup> (previously known as <jats:italic>E<\/jats:italic><jats:sup><jats:italic>G<\/jats:italic><\/jats:sup>) alleles associate with similar phenotypes in dogs impacting genotypes regulated by <jats:italic>beta\u2010defensin 103<\/jats:italic> gene (<jats:italic>CBD103<\/jats:italic>; K locus) and <jats:italic>agouti signaling protein<\/jats:italic> gene (<jats:italic>ASIP<\/jats:italic>; <jats:italic>A locus<\/jats:italic>) in the absence of the <jats:italic>E<\/jats:italic><jats:sup><jats:italic>M<\/jats:italic><\/jats:sup> and E alleles. This suggests that all three alleles are putative reduced\u2010function variants of the <jats:italic>MC1R<\/jats:italic> gene. We propose the revised and updated E locus dominance hierarchy to be <jats:italic>E<\/jats:italic><jats:sup><jats:italic>M<\/jats:italic><\/jats:sup>\u2009&gt;\u2009<jats:italic>E<\/jats:italic>\u2009&gt;\u2009<jats:italic>e<\/jats:italic><jats:sup><jats:italic>A<\/jats:italic><\/jats:sup>\/<jats:italic>e<\/jats:italic><jats:sup><jats:italic>H<\/jats:italic><\/jats:sup>\/<jats:italic>e<\/jats:italic><jats:sup><jats:italic>G<\/jats:italic><\/jats:sup>\u2009&gt;\u2009<jats:italic>e<\/jats:italic><jats:sup>1\u20133<\/jats:sup>.<\/jats:p>","DOI":"10.1111\/age.13398","type":"journal-article","created":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T08:44:48Z","timestamp":1706517888000},"page":"291-295","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Canine coat color E locus updates: Identification of a new <scp>MC1R<\/scp> variant causing \u2018sable\u2019 coat color in English Cocker Spaniels and a proposed update to the E locus dominance hierarchy"],"prefix":"10.1111","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8864-6532","authenticated-orcid":false,"given":"Leena","family":"Honkanen","sequence":"first","affiliation":[{"name":"Wisdom Panel, Mars Petcare Science &amp; Diagnostics  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Loechel","sequence":"additional","affiliation":[{"name":"Vetgen LLC  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7999-7119","authenticated-orcid":false,"given":"Stephen","family":"Davison","sequence":"additional","affiliation":[{"name":"Wisdom Panel, Mars Petcare Science &amp; Diagnostics  Leicestershire UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9874-8484","authenticated-orcid":false,"given":"Jonas","family":"Donner","sequence":"additional","affiliation":[{"name":"Wisdom Panel, Mars Petcare Science &amp; Diagnostics  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5561-0901","authenticated-orcid":false,"given":"Heidi","family":"Anderson","sequence":"additional","affiliation":[{"name":"Wisdom Panel, Mars Petcare Science &amp; Diagnostics  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,1,29]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40575\u2010020\u201000095\u20107"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41559\u2010021\u201001524\u2010x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi219"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007361"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0223995"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/jhered\/esq061"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12660"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/biomet\/38.1-2.141"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003350010005"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102052.2009.01864.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/jhered\/esg014"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353\u2010013\u20100163\u2010z"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1663"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365\u20102052.2000.00655.x"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.13398","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T12:01:50Z","timestamp":1709726510000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.13398"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,29]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1111\/age.13398"],"URL":"https:\/\/doi.org\/10.1111\/age.13398","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,29]]},"assertion":[{"value":"2023-09-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}