{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T16:39:24Z","timestamp":1783787964846,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,2,7]],"date-time":"2021-02-07T00:00:00Z","timestamp":1612656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The equine graying with age causative mutation in the syntaxin\u201017 gene (<jats:italic>STX17<\/jats:italic>) has been known for over a decade, but proper genotyping of this variant remains challenging due to its molecular character (4.6\u2010kb tandem duplication). Precise information on gray mutation status is important for horse breeders and veterinarians, since gray homozygous horses are more prone to developing aggressive melanoma tumors than heterozygotes. Since recent studies have confirmed that droplet digital PCR is a valuable technique for copy number analysis, we decided to investigate whether this method can be used for accurate genotyping of the horse graying\u2010related variant and established the copy numbers of the 4.6\u2010kb fragment in the available cohort (<jats:italic>n<\/jats:italic>\u00a0=\u00a075) of gray and nongray horses of various breeds. Surprisingly, we found that our <jats:italic>STX17<\/jats:italic> genotype results varied from what has been previously published, suggesting that gray phenotype is associated with the presence of six (<jats:italic>GG<\/jats:italic>) or four (<jats:italic>Gg<\/jats:italic>) copies of studied region. All the examined nongray horses (<jats:italic>gg<\/jats:italic>) have the two copies of these fragments. This new pattern and its inheritance were also confirmed by an analysis conducted for the Polish Warmblood horse family. We noted no further copy number variation in the entire tested samples set. Our study confirmed the usefulness and accuracy of droplet digital PCR for genotyping <jats:italic>STX17<\/jats:italic> gene variant. Further studies on a broader range of materials are needed to fully understand the origin and molecular structure of the graying causative mutation in the horse <jats:italic>STX17<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/age.13044","type":"journal-article","created":{"date-parts":[[2021,2,7]],"date-time":"2021-02-07T08:25:03Z","timestamp":1612686303000},"page":"223-227","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The equine graying with age mutation of the <i>STX17<\/i> gene: A copy number study using droplet digital PCR reveals a new pattern"],"prefix":"10.1111","volume":"52","author":[{"given":"J.","family":"Nowacka\u2010Woszuk","sequence":"first","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Wolynska 33 Poznan 60\u2010637 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mackowski","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Wolynska 33 Poznan 60\u2010637 Poland"},{"name":"Horse Genetic Markers Laboratory Poznan University of Life Sciences Wolynska 33 Poznan 60\u2010637 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Stefaniuk\u2010Szmukier","sequence":"additional","affiliation":[{"name":"Department of Animal Reproduction, Anatomy and Genomics University of Agriculture in Krakow Mickiewicza 24\/28 Krakow 30\u2010059 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6936-2550","authenticated-orcid":false,"given":"J.","family":"Cieslak","sequence":"additional","affiliation":[{"name":"Department of Genetics and Animal Breeding Poznan University of Life Sciences Wolynska 33 Poznan 60\u2010637 Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,2,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.foodchem.2014.10.138"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.4238\/2015.October.29.36"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2014.221366"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2012.02.006"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0724s82"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.185"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3642"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-13-365"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2011.00902.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/evj.13214"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jvim.12133"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes10030243"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks203"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.13044","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/age.13044","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.13044","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T18:17:03Z","timestamp":1693419423000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.13044"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,7]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1111\/age.13044"],"URL":"https:\/\/doi.org\/10.1111\/age.13044","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,7]]},"assertion":[{"value":"2021-01-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}