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The aim of this study was to identify additional variants in the candidate <jats:italic>ACAN<\/jats:italic> gene associated with chondrodysplastic dwarfism in Miniature horses. Fifteen dwarf Miniature horses were found to possess only one of the dwarfism-causing variants, and two possessed none of the variants. The <jats:italic>ACAN<\/jats:italic> exons (EquCab3.0) of seven dwarf Miniature horses were sequenced. A missense SNP in coding exon 11 (g.95271115A\u2009&gt;\u2009T, c.6465A\u2009&gt;\u2009T\u2014RefSeq XM_005602799.2), which resulted in the amino acid substitution p.Leu2155Phe (RefSeq XP_005602856.2), was initially associated with the dwarf phenotype. The variant was tested and found present in 14 dwarf foals as well as one parent of each, and both parents of a dwarf possessing two copies. Genetic testing of 347 phenotypically normal Miniature horses demonstrated that none had more than one of the dwarf alleles or c.6465A\u2009&gt;\u2009T. However, a study of large breeds revealed the presence of c.6465A\u2009&gt;\u2009T, which was present in homozygosis in two Mangalarga Marchador horses. We suggest that c.6465A\u2009&gt;\u2009T as a marker of disequilibrium or complex interactions in the Miniature horse genome could contribute to the associated dwarfism.<\/jats:p>","DOI":"10.1038\/s41598-020-72192-3","type":"journal-article","created":{"date-parts":[[2020,9,17]],"date-time":"2020-09-17T21:28:45Z","timestamp":1600378125000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses"],"prefix":"10.1038","volume":"10","author":[{"given":"Danilo Giorgi Abranches","family":"de Andrade","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta Martins","family":"Basso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo Jos\u00e9","family":"Magro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9e","family":"Laufer-Amorim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre Secorun","family":"Borges","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Paes","family":"de Oliveira-Filho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,9,17]]},"reference":[{"key":"72192_CR1","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/j.jevs.2009.04.021","volume":"29","author":"J Eberth","year":"2009","unstructured":"Eberth, J., Swerczak, T. & Bailey, E. 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