{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T17:32:12Z","timestamp":1781803932342,"version":"3.54.5"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,7,30]],"date-time":"2018-07-30T00:00:00Z","timestamp":1532908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001250","name":"Morris Animal Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001250","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Chondrodysplastic dwarfism in Miniature horses appeared to be a recessive genetic trait based on the occurrence of affected offspring by normal parents. Dwarf phenotypes vary and range from abnormal abortuses to viable offspring with evidence of skeletal dysplasia. A genome\u2010wide association study implicated a region of <jats:styled-content style=\"fixed-case\">ECA<\/jats:styled-content>1 with dwarfism in Miniature horses. <jats:italic>Aggrecan<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">ACAN<\/jats:styled-content><\/jats:italic>) was a candidate gene in that region, and exons were sequenced to compare <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequences for dwarf and non\u2010dwarf horses. Sequencing led to the discovery of variants in exons 2, 6, 7 and 15 associated with dwarfism. The four variants are identified with reference to Ecab 3.0 (<jats:styled-content style=\"fixed-case\">GCF<\/jats:styled-content>_002863925.1) as g.95291270del (rs1095048841), g.95284530C&gt;T (<jats:styled-content style=\"fixed-case\">ERP<\/jats:styled-content>107353), g.95282140C&gt;G (rs1095048823) and g.95257480_95257500del (rs1095048839) and designated here as <jats:italic>D1<\/jats:italic>,<jats:italic> D2<\/jats:italic>,<jats:italic> D3*<\/jats:italic> and <jats:italic>D4<\/jats:italic> respectively. A previous study at another laboratory reported dwarfism associated with homozygosity for <jats:italic>D3*<\/jats:italic>. Homozygotes for those variants and compound heterozygotes for any combination of those variants always expressed a dwarfism phenotype. However, eight additional horses with dwarfism were found, seven of which were heterozygotes for <jats:italic>D2<\/jats:italic>,<jats:italic> D3*<\/jats:italic> or <jats:italic>D4<\/jats:italic>, suggesting the existence of additional <jats:italic><jats:styled-content style=\"fixed-case\">ACAN<\/jats:styled-content><\/jats:italic> alleles causing dwarfism. Among Miniature horses, the combined frequency of <jats:italic>D1<\/jats:italic>,<jats:italic> D2<\/jats:italic>,<jats:italic> D3*<\/jats:italic> and <jats:italic>D4<\/jats:italic> was 0.163, suggesting a carrier rate of 26.2% for alleles causing chondrodysplastic dwarfism.<\/jats:p>","DOI":"10.1111\/age.12682","type":"journal-article","created":{"date-parts":[[2018,7,30]],"date-time":"2018-07-30T07:40:57Z","timestamp":1532936457000},"page":"413-420","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Multiple alleles of <i><scp>ACAN<\/scp><\/i> associated with chondrodysplastic dwarfism in Miniature horses"],"prefix":"10.1111","volume":"49","author":[{"given":"J. E.","family":"Eberth","sequence":"first","affiliation":[{"name":"Department of Veterinary Science MH Gluck Equine Research Center University of Kentucky Lexington KY 40546 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. T.","family":"Graves","sequence":"additional","affiliation":[{"name":"Department of Veterinary Science MH Gluck Equine Research Center University of Kentucky Lexington KY 40546 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. N.","family":"MacLeod","sequence":"additional","affiliation":[{"name":"Department of Veterinary Science MH Gluck Equine Research Center University of Kentucky Lexington KY 40546 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bailey","sequence":"additional","affiliation":[{"name":"Department of Veterinary Science MH Gluck Equine Research Center University of Kentucky Lexington KY 40546 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_3_1","volume-title":"Official Rule Book of American Miniature Horse Association","author":"American Miniature Horse Association","year":"2017"},{"key":"e_1_2_7_4_1","volume-title":"The American Miniature Horse Registry Official Rule Book","author":"American Miniature Horse Registry","year":"2017"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tvjl.2017.05.014"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-007-9066-9"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.26.119"},{"key":"e_1_2_7_9_1","unstructured":"EberthJ.(2013)Chondrodysplasia\u2010like Dwarfism in the Miniature Horse. 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