{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:53:24Z","timestamp":1761710004914,"version":"3.40.5"},"reference-count":55,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T00:00:00Z","timestamp":1670803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001602","name":"Science Foundation Ireland","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001602","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Swyer syndrome is where an individual has the karyotype of a typical male yet is phenotypically a female. The lack of a (functional) <jats:italic>SRY<\/jats:italic> gene located on the Y\u2010chromosome is implicated in some cases of the Swyer syndrome, although many Swyer individuals with an apparently fully functional <jats:italic>SRY<\/jats:italic> gene have also been documented. The present study undertook whole genome sequence analyses of eight cattle with suspected Swyer syndrome and compared their genome to that of both a control male and female. Sequence analyses coupled with female phenotypes confirmed that all eight individuals had the 60,XY sex reversal Swyer syndrome. Seven of the eight Swyer syndrome individuals had a deletion on the Y chromosome encompassing the <jats:italic>SRY<\/jats:italic> gene (i.e., <jats:italic>SRY<\/jats:italic>\u2212). The eighth individual had no obvious mutation in the <jats:italic>SRY<\/jats:italic> gene (<jats:italic>SRY<\/jats:italic>+) or indeed in any reported gene associated with sex reversal in mammals; a necropsy was performed on this individual. No testicles were detected during the necropsy. Histological examination of the reproductive tract revealed an immature uterine body and horns with inactive glandular tissue of normal histological appearance; both gonads were elongated, a characteristic of most reported cases of Swyer in mammals. The flanking sequence of 11 single nucleotide polymorphisms within 10\u2009kb of the <jats:italic>SRY<\/jats:italic> gene are provided to help diagnose some cases of Swyer syndrome. These single nucleotide polymorphisms will not, however, detect all cases of Swyer syndrome since, as evidenced from the present study (and other studies), some individuals with the Swyer condition still contain the <jats:italic>SRY<\/jats:italic> gene (i.e., <jats:italic>SRY<\/jats:italic>+).<\/jats:p>","DOI":"10.1111\/age.13280","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T08:10:41Z","timestamp":1670832641000},"page":"93-103","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Characterisation of eight cattle with Swyer syndrome by whole\u2010genome sequencing"],"prefix":"10.1111","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4349-1447","authenticated-orcid":false,"given":"Donagh P.","family":"Berry","sequence":"first","affiliation":[{"name":"Teagasc, Animal &amp; Grassland Research and Innovation Centre, Moorepark  Fermoy Co. Cork Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily K.","family":"Herman","sequence":"additional","affiliation":[{"name":"Department of Agricultural, Food and Nutritional Science University of Alberta  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tara R.","family":"Carthy","sequence":"additional","affiliation":[{"name":"Teagasc, Animal &amp; Grassland Research and Innovation Centre, Moorepark  Fermoy Co. Cork Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Jennings","sequence":"additional","affiliation":[{"name":"School of Biosciences University of Kent  Canterbury UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nahid","family":"Bandi\u2010Kenari","sequence":"additional","affiliation":[{"name":"Department of Agricultural, Food and Nutritional Science University of Alberta  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca E.","family":"O'Connor","sequence":"additional","affiliation":[{"name":"School of Biosciences University of Kent  Canterbury UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John F.","family":"Mee","sequence":"additional","affiliation":[{"name":"Teagasc, Animal &amp; Grassland Research and Innovation Centre, Moorepark  Fermoy Co. Cork Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jim","family":"O'Donovan","sequence":"additional","affiliation":[{"name":"Department of Agriculture, Food and the Marine Regional Veterinary Laboratory  Cork Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daragh","family":"Matthews","sequence":"additional","affiliation":[{"name":"Irish Cattle Breeding Federation  Ballincollig Co. Cork Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Stothard","sequence":"additional","affiliation":[{"name":"Department of Agricultural, Food and Nutritional Science University of Alberta  Edmonton Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/ani10091667"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-18-0256"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2019.04.005"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1155\/2021\/8893467"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.2527\/jas.2016.1279"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-4320(78)90004-0"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2012.00035"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_9_10_1","first-page":"283","article-title":"International System for Chromosome Nomenclature of Domestic Bovids (ISCNDB 2000)","volume":"95","author":"Cribiu E.P.","year":"2021","journal-title":"Cytogenetic and Genome Research"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000381451"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr330"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giab008"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000489869"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2155"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000332754"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000253308"},{"key":"e_1_2_9_18_1","first-page":"510","article-title":"XY gonadal dysgenesis and tetralogy of Fallot in an Angus calf","volume":"35","author":"Hare J.E.","year":"1994","journal-title":"Canadian Veterinary Journal"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-animal-020518-115024"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/BF03547831"},{"key":"e_1_2_9_22_1","first-page":"94","article-title":"Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use","volume":"29","author":"Hook E.B.","year":"1977","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa942"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1109\/MCSE.2007.55"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.3390\/ani11030802"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/vr.154.26.823"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1159\/000134182"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajme.2016.05.006"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/MED.0000000000000113"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1292\/jvms.54.1077"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.07.042"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.93"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1159\/000118739"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_9_35_1","first-page":"372","article-title":"Gene action in the X\u2010chromosome of the mouse (Mus musculus L.)","volume":"190","author":"Lyon M.F.","year":"1961","journal-title":"Nature Cell Biology"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1530\/jrf.0.0710525"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00084"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-0974-4"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2008.01703.x"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(53)90359-7"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anireprosci.2004.09.008"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1159\/000448361"},{"key":"e_1_2_9_43_1","unstructured":"Pedersen B.S. 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