{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T04:53:43Z","timestamp":1784004823292,"version":"3.55.0"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,1,23]],"date-time":"2017-01-23T00:00:00Z","timestamp":1485129600000},"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","award":["D12EQ\u2010401"],"award-info":[{"award-number":["D12EQ\u2010401"]}],"id":[{"id":"10.13039\/100001250","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["K01OD015134\u201001A1"],"award-info":[{"award-number":["K01OD015134\u201001A1"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>In the horse, the term occipitoatlantoaxial malformation (<jats:styled-content style=\"fixed-case\">OAAM<\/jats:styled-content>) is used to describe a developmental defect in which the first cervical vertebra (atlas) resembles the base of the skull (occiput) and the second cervical vertebra (axis) resembles the atlas. Affected individuals demonstrate an abnormal posture and varying degrees of ataxia. The homeobox (<jats:styled-content style=\"fixed-case\">HOX<\/jats:styled-content>) gene cluster is involved in the development of both the axial and appendicular skeleton.<jats:italic>Hoxd3<\/jats:italic>\u2010null mice demonstrate a strikingly similar phenotype to Arabian foals with<jats:styled-content style=\"fixed-case\">OAAM<\/jats:styled-content>. Whole\u2010genome sequencing was performed in an<jats:styled-content style=\"fixed-case\">OAAM<\/jats:styled-content>\u2010affected horse (<jats:styled-content style=\"fixed-case\">OAAM<\/jats:styled-content>1) and seven unaffected Arabian horses. Visual inspection of the raw reads within the region of<jats:italic><jats:styled-content style=\"fixed-case\">HOXD<\/jats:styled-content>3<\/jats:italic>identified a 2.7\u2010kb deletion located 4.4\u00a0kb downstream of the end of<jats:italic><jats:styled-content style=\"fixed-case\">HOXD<\/jats:styled-content>4<\/jats:italic>and 8.2\u00a0kb upstream of the start of<jats:italic><jats:styled-content style=\"fixed-case\">HOXD<\/jats:styled-content>3<\/jats:italic>. A genotyping assay revealed that both parents of<jats:styled-content style=\"fixed-case\">OAAM<\/jats:styled-content>1 were heterozygous for the deletion. Additional genotyping identified two of 162 heterozygote Arabians, and the deletion was not present in 371 horses of other breeds. Comparative genomics studies have revealed that this region is highly conserved across species and that the entire genomic region between<jats:italic>Hoxd4<\/jats:italic>and<jats:italic>Hoxd3<\/jats:italic>is transcribed in mice. Two additional Arabian foals diagnosed with<jats:styled-content style=\"fixed-case\">OAAM<\/jats:styled-content>(<jats:styled-content style=\"fixed-case\">OAAM<\/jats:styled-content>2 and 3) were genotyped and did not have the 2.7\u2010kb deletion. Closer examination of the phenotype in these cases revealed notable variation.<jats:styled-content style=\"fixed-case\">OAAM<\/jats:styled-content>3 also had facial malformations and a patent ductus arteriosus, and the actual malformation at the craniocervical junction differed. Genetic heterogeneity may exist across the<jats:italic><jats:styled-content style=\"fixed-case\">HOXD<\/jats:styled-content><\/jats:italic>locus in Arabian foals with<jats:styled-content style=\"fixed-case\">OAAM<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/age.12531","type":"journal-article","created":{"date-parts":[[2017,1,23]],"date-time":"2017-01-23T07:03:07Z","timestamp":1485154987000},"page":"287-294","source":"Crossref","is-referenced-by-count":21,"title":["Deletion of 2.7\u00a0kb near<i><scp>HOXD<\/scp>3<\/i>in an Arabian horse with occipitoatlantoaxial malformation"],"prefix":"10.1111","volume":"48","author":[{"given":"M. H.","family":"Bordbari","sequence":"first","affiliation":[{"name":"Department of Population Health and Reproduction School of Veterinary Medicine University of California\u2010Davis Davis CA 95616 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. C. T.","family":"Penedo","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory School of Veterinary Medicine University of California\u2010Davis Davis CA 95616 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Aleman","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Epidemiology School of Veterinary Medicine University of California\u2010Davis Davis CA 95616 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. J.","family":"Valberg","sequence":"additional","affiliation":[{"name":"Department of Large Animal Clinical Sciences College of Veterinary Medicine Michigan State University East Lansing MI 48824 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Mickelson","sequence":"additional","affiliation":[{"name":"Department of Veterinary Population Medicine College of Veterinary Medicine University of Minnesota St. Paul MN 55108 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. J.","family":"Finno","sequence":"additional","affiliation":[{"name":"Department of Population Health and Reproduction School of Veterinary Medicine University of California\u2010Davis Davis CA 95616 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.2460\/javma.231.7.1033"},{"key":"e_1_2_7_3_1","first-page":"67","article-title":"Atlantoaxial malformation in a half\u2010Arabian colt","volume":"81","author":"Blikslager A.T.","year":"1991","journal-title":"The Cornell Veterinarian"},{"key":"e_1_2_7_4_1","unstructured":"2013 John Wiley & Sons Ames IA Equine Genomics B.P. 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