{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:27:27Z","timestamp":1791235647091,"version":"4.1.0"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Polish Ministry of Science and Higher Education","award":["IP2014 006873"],"award-info":[{"award-number":["IP2014 006873"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Only the blue dun coat color, produced by the action of the dun allele on the background of a black base coat, is officially permitted in the Polish primitive horse (PPH, Konik) breed, yet the population is not visually homogenous and various coat color shades occur. Herein, the molecular background of PPH coat color was studied based on genotyping of known causative variants in equine coat color-related genes (ASIP, MC1R, TBX3, SLC36A1, SLC45A2, PMEL17, and RALY). Additionally, screening for the new polymorphisms was conducted for the ASIP gene coding sequence and the TBX3 1.6-kb insert (associated with the dun dilution). We did not observe the champagne, silver, or cream color dilution variants in the PPH breed. A significant association (P &amp;lt; 0.01) was recorded for the genotype in TBX3 gene 1.6 kb in\/del and the degree of dun coat dilution, demonstrating that the dominant action of the dun mutation is not fully penetrant. In addition to the effect of the 1.6 kb in\/del zygosity, variants within the TBX3 insert were significantly associated with PPH coat color variability (P &amp;lt; 0.01), suggesting the presence of an additional allele at this locus. Finally, we identified a high frequency (35%) of genetically bay dun-colored PPH individuals that are officially recorded as blue (black base coat) duns. We propose that the difficulty in distinguishing these 2 phenotypes visually is due to an independent locus upstream of the ASIP gene, which was recently described as darkening the typical bay pigmentation shade.<\/jats:p>","DOI":"10.1093\/jhered\/esab034","type":"journal-article","created":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T12:54:41Z","timestamp":1622724881000},"page":"436-442","source":"Crossref","is-referenced-by-count":10,"title":["Genetic Background of the Polish Primitive Horse (Konik) Coat Color Variation\u2014New Insight into Dun Dilution Phenotypic Effect"],"prefix":"10.1093","volume":"112","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6936-2550","authenticated-orcid":false,"given":"Jakub","family":"Cieslak","sequence":"first","affiliation":[{"name":"Horse Breeding Unit, Department of Genetics and Animal Breeding, Poznan University of Life Sciences , Wolynska 33, 60-637 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4500-2689","authenticated-orcid":false,"given":"Samantha Ann","family":"Brooks","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, UF Genetics Institute, University of Florida , Gainesville, FL 32611-0910 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukasz","family":"Wodas","sequence":"additional","affiliation":[{"name":"Horse Breeding Unit, Department of Genetics and Animal Breeding, Poznan University of Life Sciences , Wolynska 33, 60-637 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weronika","family":"Mantaj","sequence":"additional","affiliation":[{"name":"Laboratory of Neurobiology, Department of Zoology, Poznan University of Life Sciences , 60-625 Poznan , Poland (Sliwowska and Ziarniak)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicja","family":"Borowska","sequence":"additional","affiliation":[{"name":"Horse Breeding Unit, Department of Genetics and Animal Breeding, Poznan University of Life Sciences , Wolynska 33, 60-637 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna Helena","family":"Sliwowska","sequence":"additional","affiliation":[{"name":"Laboratory of Neurobiology, Department of Zoology, Poznan University of Life Sciences , 60-625 Poznan , Poland (Sliwowska and Ziarniak)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamil","family":"Ziarniak","sequence":"additional","affiliation":[{"name":"Laboratory of Neurobiology, Department of Zoology, Poznan University of Life Sciences , 60-625 Poznan , Poland (Sliwowska and Ziarniak)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariusz","family":"Mackowski","sequence":"additional","affiliation":[{"name":"Horse Breeding Unit, Department of Genetics and Animal Breeding, Poznan University of Life Sciences , Wolynska 33, 60-637 Poznan, Poland"},{"name":"Horse Genetic Markers Laboratory, Poznan University of Life Sciences , 60-637 Poznan , Poland (Mackowski)"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,8,25]]},"reference":[{"key":"2023102521402747200_CIT0001","first-page":"36","article-title":"Image processing with ImageJ","volume":"11","author":"Abramoff","year":"2004","journal-title":"Biophotonics Int"},{"key":"2023102521402747200_CIT0002","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1111\/j.1365-2052.2010.02116.x","article-title":"Pleiotropic effects of pigmentation genes in horses","volume":"41","author":"Bellone","year":"2010","journal-title":"Anim Genet"},{"key":"2023102521402747200_CIT0003","first-page":"159","article-title":"Genotyping of coat color genes (MC1R, ASIP, PMEL17 and MATP) polymorphisms in cold-blooded horses bred in Poland reveals sporadic mistakes in phenotypic descriptions","volume":"31","author":"Cieslak","year":"2013","journal-title":"Anim Sci Pap Rep"},{"key":"2023102521402747200_CIT0004","doi-asserted-by":"crossref","first-page":"e3714","DOI":"10.7717\/peerj.3714","article-title":"Characterization of the Polish Primitive Horse (Konik) maternal lines using mitochondrial D-loop sequence variation","volume":"5","author":"Cieslak","year":"2017","journal-title":"PeerJ"},{"key":"2023102521402747200_CIT0005","doi-asserted-by":"crossref","first-page":"606","DOI":"10.3390\/genes11060606","article-title":"An independent locus upstream of ASIP controls variation in the shade of the bay coat colour in horses","volume":"11","author":"Corbin","year":"2020","journal-title":"Genes"},{"key":"2023102521402747200_CIT0006","doi-asserted-by":"crossref","first-page":"e0210751","DOI":"10.1371\/journal.pone.0210751","article-title":"A genome-wide scan for diversifying selection signatures in selected horse breeds","volume":"14","author":"Gurgul","year":"2019","journal-title":"PLoS One"},{"key":"2023102521402747200_CIT0007","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng.3475","article-title":"Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses","volume":"48","author":"Imsland","year":"2016","journal-title":"Nat Genet"},{"key":"2023102521402747200_CIT0008","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1126\/science.1172750","article-title":"Coat color variation at the beginning of horse domestication","volume":"324","author":"Ludwig","year":"2009","journal-title":"Science"},{"key":"2023102521402747200_CIT0009","doi-asserted-by":"crossref","first-page":"23","DOI":"10.5194\/aab-58-23-2015","article-title":"Genetic diversity in Hucul and Polish Primitive horse breeds","volume":"58","author":"Mackowski","year":"2015","journal-title":"Arch Anim Breed"},{"key":"2023102521402747200_CIT0010","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1017\/S1751731118003506","article-title":"TBX3 and ASIP genotypes reveal discrepancies in officially recorded coat colors of Hucul horses","volume":"13","author":"Mackowski","year":"2019","journal-title":"Animal"},{"key":"2023102521402747200_CIT0011","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1111\/age.12857","article-title":"Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era","volume":"50","author":"Raudsepp","year":"2019","journal-title":"Anim Genet"},{"key":"2023102521402747200_CIT0012","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1093\/jhered\/esm115","article-title":"Genetic analysis of white facial and leg markings in the Swiss Franches-Montagnes Horse Breed","volume":"99","author":"Rieder","year":"2008","journal-title":"J Hered"},{"key":"2023102521402747200_CIT0013","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1007\/s003350020017","article-title":"Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus)","volume":"12","author":"Rieder","year":"2001","journal-title":"Mamm Genome"},{"key":"2023102521402747200_CIT0014","doi-asserted-by":"crossref","first-page":"9","DOI":"10.2478\/s11687-009-0002-2","article-title":"Gastro-intestinal parasites in yearlings of wild Polish primitive horses from the Popielno Forest Reserve, Poland","volume":"46","author":"Slivinska","year":"2009","journal-title":"Helminthologia"},{"key":"2023102521402747200_CIT0015","first-page":"2","article-title":"The issue of blue Dun shade inheritance in the horse","volume":"6","author":"Stachurska","year":"2003","journal-title":"Electron J Pol Agric Univ. Animal Husbandry"},{"key":"2023102521402747200_CIT0016","first-page":"1","article-title":"Selection of Polish Konik horses for coat colour and the ways to improve their effectiveness","volume":"6","author":"Stachurska","year":"2003","journal-title":"Electron J Pol Agric Univ. Animal Husbandry"},{"key":"2023102521402747200_CIT0017","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.jevs.2016.10.003","article-title":"Variation in TBX3 gene region in Dun coat color Polish Konik horses","volume":"49","author":"Stefaniuk-Szmukier","year":"2017","journal-title":"J Equine Vet Sci"},{"key":"2023102521402747200_CIT0018","doi-asserted-by":"crossref","first-page":"e115","DOI":"10.1093\/nar\/gks596","article-title":"Primer3\u2013new capabilities and interfaces","volume":"40","author":"Untergasser","year":"2012","journal-title":"Nucleic Acids Res"}],"container-title":["Journal of Heredity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jhered\/article-pdf\/112\/5\/436\/52550892\/esab034.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jhered\/article-pdf\/112\/5\/436\/52550892\/esab034.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T21:40:42Z","timestamp":1698270042000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jhered\/article\/112\/5\/436\/6357767"}},"subtitle":[],"editor":[{"given":"Ernest","family":"Bailey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2021,7,1]]},"references-count":18,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,8,25]]},"published-print":{"date-parts":[[2021,8,25]]}},"URL":"https:\/\/doi.org\/10.1093\/jhered\/esab034","relation":{},"ISSN":["0022-1503","1465-7333"],"issn-type":[{"value":"0022-1503","type":"print"},{"value":"1465-7333","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,7,1]]},"published":{"date-parts":[[2021,7,1]]}}}