{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:43:22Z","timestamp":1787013802679,"version":"build-2736575974"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,4,22]],"date-time":"2022-04-22T00:00:00Z","timestamp":1650585600000},"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":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Sequence variations in the\n                    <jats:italic>melanocortin\u20101 receptor<\/jats:italic>\n                    (\n                    <jats:italic>MC1R<\/jats:italic>\n                    ) gene are associated with melanism in different animal species. Six functionally relevant alleles have been described in cattle to date. In a hypothesis\u2010free approach we performed a genome\u2010wide allelic association study with black, red and wild\u2010coloured cattle of three Alpine cattle breeds (Eringer, Evol\u00e8ner and Valdostana), revealing a single significant association signal close to the\n                    <jats:italic>MC1R<\/jats:italic>\n                    gene. We searched for candidate causative variants by sequencing the entire coding sequence and identified two novel protein\u2010changing variants. We propose designating the mutant alleles at\n                    <jats:italic>MC1R<\/jats:italic>\n                    :c.424C&gt;T as\n                    <jats:italic>\n                      e\n                      <jats:sup>v1<\/jats:sup>\n                    <\/jats:italic>\n                    and at\n                    <jats:italic>MC1R<\/jats:italic>\n                    :c.263G&gt;A as\n                    <jats:italic>\n                      e\n                      <jats:sup>v2<\/jats:sup>\n                    <\/jats:italic>\n                    . Both affect conserved amino acid residues in functionally important transmembrane domains (p.Arg142Cys and p.Ser88Asn). Both alleles segregate predominantly in the Swiss Evol\u00e8ner breed. They occur in other European cattle breeds such as Abondance and Rotes H\u00f6henvieh as well. We observed almost perfect association between the\n                    <jats:italic>MC1R<\/jats:italic>\n                    genotypes and the coat colour phenotype in a cohort of 513 black, red and wild\u2010coloured cattle. Animals carrying two copies of\n                    <jats:italic>MC1R<\/jats:italic>\n                    loss\u2010of\u2010function alleles or that were compound heterozygous for\n                    <jats:italic>e<\/jats:italic>\n                    ,\n                    <jats:italic>\n                      e\n                      <jats:sup>v1<\/jats:sup>\n                    <\/jats:italic>\n                    , or\n                    <jats:italic>\n                      e\n                      <jats:sup>v2<\/jats:sup>\n                    <\/jats:italic>\n                    have a red to dark red (chestnut\u2010like red) coat colour. These findings expand the spectrum of causal\n                    <jats:italic>MC1R<\/jats:italic>\n                    variants causing recessive red in cattle.\n                  <\/jats:p>","DOI":"10.1111\/age.13206","type":"journal-article","created":{"date-parts":[[2022,4,22]],"date-time":"2022-04-22T05:08:04Z","timestamp":1650604084000},"page":"427-435","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Identification of two new recessive\n                    <i>MC1R<\/i>\n                    alleles in red\u2010coloured Evol\u00e8ner cattle and other breeds"],"prefix":"10.1111","volume":"53","author":[{"given":"Miriam","family":"Hauser","sequence":"first","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern Bern 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