{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T03:16:38Z","timestamp":1791947798252,"version":"4.3.4"},"reference-count":50,"publisher":"The Royal Society","issue":"1610","license":[{"start":{"date-parts":[[2006,12,12]],"date-time":"2006-12-12T00:00:00Z","timestamp":1165881600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/royalsociety.org\/journals\/ethics-policies\/data-sharing-mining\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Proc. R. Soc. B."],"published-print":{"date-parts":[[2007,3,7]]},"abstract":"<jats:p>Identifying the genes that underlie phenotypic variation in natural populations is a central objective of evolutionary genetics. Here, we report the identification of the gene and causal mutation underlying coat colour variation in a free-living population of Soay sheep (<jats:italic>Ovis aries<\/jats:italic>). We targeted tyrosinase-related protein 1 (<jats:italic>TYRP1<\/jats:italic>), a positional candidate gene based on previous work that mapped the<jats:italic>Coat colour<\/jats:italic>locus to an approximately 15\u200acM window on chromosome 2. We identified a non-synonymous substitution in exon IV that was perfectly associated with coat colour. This polymorphism is predicted to cause the loss of a cysteine residue that is highly evolutionarily conserved and likely to be of functional significance. We eliminated the possibility that this association is due to the presence of strong linkage disequilibrium with an unknown regulatory mutation by demonstrating that there is no difference in relative<jats:italic>TYRP1<\/jats:italic>expression between colour morphs. Analysis of this putative causal mutation in a complex pedigree of more than 500 sheep revealed almost perfect co-segregation with coat colour (<jats:italic>\u03a7<\/jats:italic><jats:sup><jats:italic>2<\/jats:italic><\/jats:sup>-test,<jats:italic>p<\/jats:italic>&lt;0.0001, LOD=110.20), and very tight linkage between<jats:italic>Coat colour<\/jats:italic>and<jats:italic>TYRP1<\/jats:italic>(LOD=29.50).<\/jats:p>","DOI":"10.1098\/rspb.2006.3762","type":"journal-article","created":{"date-parts":[[2006,12,15]],"date-time":"2006-12-15T18:37:38Z","timestamp":1166207858000},"page":"619-626","source":"Crossref","is-referenced-by-count":112,"title":["Compelling evidence that a single nucleotide substitution in<i>TYRP1<\/i>is responsible for coat-colour polymorphism in a free-living population of Soay sheep"],"prefix":"10.1098","volume":"274","author":[{"given":"J","family":"Gratten","sequence":"first","affiliation":[{"name":"Department of Animal &amp; Plant Sciences, University of SheffieldWestern Bank, Sheffield S10 2TN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Beraldi","sequence":"additional","affiliation":[{"name":"Institute of Evolutionary Biology, School of Biological Sciences, University of EdinburghWest Mains Road, Edinburgh EH9 3JT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.V","family":"Lowder","sequence":"additional","affiliation":[{"name":"Department of Animal &amp; Plant Sciences, University of SheffieldWestern Bank, Sheffield S10 2TN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.F","family":"McRae","sequence":"additional","affiliation":[{"name":"Institute of Evolutionary Biology, School of Biological Sciences, University of EdinburghWest Mains Road, Edinburgh EH9 3JT, UK"},{"name":"Genetic Epidemiology, Queensland Institute of Medical Research300 Herston Road, Brisbane 4029, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.M","family":"Visscher","sequence":"additional","affiliation":[{"name":"Institute of Evolutionary Biology, School of Biological Sciences, University of EdinburghWest Mains Road, Edinburgh EH9 3JT, UK"},{"name":"Genetic Epidemiology, Queensland Institute of Medical Research300 Herston Road, Brisbane 4029, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M","family":"Pemberton","sequence":"additional","affiliation":[{"name":"Institute of Evolutionary Biology, School of Biological Sciences, University of EdinburghWest Mains Road, Edinburgh EH9 3JT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Slate","sequence":"additional","affiliation":[{"name":"Department of Animal &amp; Plant Sciences, University of SheffieldWestern Bank, Sheffield S10 2TN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"175","published-online":{"date-parts":[[2006,12,12]]},"reference":[{"key":"e_1_3_2_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.1990.tb00286.x"},{"key":"e_1_3_2_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2003.00067.x"},{"key":"e_1_3_2_4_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.106.057141"},{"key":"e_1_3_2_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2052.2003.00985.x"},{"key":"e_1_3_2_6_1","first-page":"1145","article-title":"Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as \u2018OCA3\u2019","volume":"58","author":"Boissy R.E","year":"1996","journal-title":"Am. 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