{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T12:38:52Z","timestamp":1777293532201,"version":"3.51.4"},"reference-count":22,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,1,10]],"date-time":"2020-01-10T00:00:00Z","timestamp":1578614400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002784","name":"Canada Excellence Research Chairs, Government of Canada","doi-asserted-by":"publisher","award":["-"],"award-info":[{"award-number":["-"]}],"id":[{"id":"10.13039\/501100002784","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>In the domestic horse; failure of normal masculinization and virilization due to deficiency of androgenic action leads to a specific disorder of sexual development known as equine androgen insensitivity syndrome (AIS). Affected individuals appear to demonstrate an incoherency between their genetic sex and sexual phenotype; i.e., XY-sex chromosome constitution and female phenotypic appearance. AIS is well documented in humans. Here we report the finding of two novel genetic variants for the AR-gene identified in a Tennessee Walking Horse and a Thoroughbred horse mare; each in individual clinical cases of horse AIS syndrome.<\/jats:p>","DOI":"10.3390\/genes11010078","type":"journal-article","created":{"date-parts":[[2020,1,10]],"date-time":"2020-01-10T10:20:29Z","timestamp":1578651629000},"page":"78","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8518-937X","authenticated-orcid":false,"given":"Daniel A.F.","family":"Villagomez","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada"},{"name":"Departamento de Produccion Animal, Universidad de Guadalajara, Zapopan 44100, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eastman G.","family":"Welsford","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. Allan","family":"King","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada"},{"name":"Karyotekk Inc. Box 363 OVC, University of Guelph, Guelph, ON N1G 2W1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamas","family":"Revay","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Guelph, Guelph, ON N1G 2W1, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.envres.2005.08.016","article-title":"Disrupted sex differentiation and feminization of man and domestic animals","volume":"100","author":"Basrur","year":"2006","journal-title":"Environ. Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/BF00262026","article-title":"Structure and function of the androgen receptor","volume":"17","author":"Brinkmann","year":"1989","journal-title":"Urol. Res."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1002\/humu.22046","article-title":"The androgen receptor gene mutations database: 2012 update","volume":"33","author":"Gottlieb","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1159\/000118739","article-title":"Equine clinical cytogenetics: The past and future","volume":"120","author":"Lear","year":"2008","journal-title":"Cytogenet. Genome Res."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1023\/A:1018408811881","article-title":"International system for cytogenetic nomenclature of the domestic horse","volume":"5","author":"Bowling","year":"1997","journal-title":"Chromosome Res."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1159\/000322811","article-title":"Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes","volume":"5","author":"Villagomez","year":"2011","journal-title":"Sex. Dev."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Paria, N., Raudsepp, T., Pearks Wilkerson, A., O\u2019brien, P., Ferguson-Smith, M., Love, C.C., Arnold, C., Rakestraw, P., Murphy, W.J., and Chowdhary, B.P. (2011). A gene catalogue of the euchromatic male-specific region of the horse Y Chromosome: Comparison with human and other mammals. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0021374"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1159\/000444991","article-title":"Missense mutation in the ligand-binding domain of the horse androgen receptor gene in a Thoroughbred family with inherited 64, XY Disorder of Sex Development","volume":"10","author":"Bolzon","year":"2016","journal-title":"Sex. Dev."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1159\/000334049","article-title":"GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64, XY disorder of sex development","volume":"6","author":"Brewer","year":"2012","journal-title":"Sex. Dev."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS recommendations for the description of sequence variants: 2016 Update","volume":"37","author":"Dalgleish","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: Improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_12","unstructured":"Karczewski, K.J., Francioli, L.C., Tiao, G., Cummings, B.B., Alf\u00f6ldi, J., Wang, Q., Collins, R.L., Laricchia, K.M., Ganna, A., and Birnbaum, D.P. (2019). Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. BioRxiv, 531210."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.1542\/peds.2006-0738","article-title":"Consensus statement on management of intersex disorders","volume":"118","author":"Lee","year":"2006","journal-title":"Pediatrics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1159\/000455114","article-title":"Androgen insensitivity syndrome in a family of warmblood horses caused by a 25-bp deletion of the DNA-Binding domain of the androgen receptor Gene","volume":"11","author":"Welsford","year":"2017","journal-title":"Sex. Dev."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1042\/bse0400121","article-title":"Nuclear receptors and disease: Androgen re-ceptor","volume":"40","author":"Gottlieb","year":"2004","journal-title":"Essays Biochem."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"29304","DOI":"10.1074\/jbc.M204131200","article-title":"Androgen receptor phosphorylation. Regulation and identification of the phosphorylation sites","volume":"277","author":"Gioeli","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"8571","DOI":"10.1074\/jbc.M111.325290","article-title":"Androgen receptor serine 81 phosphorylation mediates chromatin binding and transcriptional activation","volume":"287","author":"Chen","year":"2012","journal-title":"J. Biol. Chem."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2267","DOI":"10.1210\/me.2010-0238","article-title":"CDK9 regulates AR promoter selectivity and cell growth through serine 81 phosphorylation","volume":"24","author":"Gordon","year":"2010","journal-title":"Mol. Endocrinol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1210\/jc.2009-2146","article-title":"Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development","volume":"95","author":"Audi","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1172\/JCI116093","article-title":"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene","volume":"90","author":"McPhaul","year":"1992","journal-title":"J. Clin. Investig."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1172\/JCI117507","article-title":"Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex","volume":"94","author":"Marcelli","year":"1994","journal-title":"J. Clin. Investig."},{"key":"ref_22","first-page":"1621","article-title":"Prevalence of Androgen Receptor Gene Mutations in Latent Prostatic Carcinomas from Japanese Men","volume":"55","author":"Takahashi","year":"1995","journal-title":"Cancer Res."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/1\/78\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T14:04:25Z","timestamp":1760364265000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/1\/78"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,10]]},"references-count":22,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1]]}},"alternative-id":["genes11010078"],"URL":"https:\/\/doi.org\/10.3390\/genes11010078","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,10]]}}}