{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T05:24:38Z","timestamp":1787203478070,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T00:00:00Z","timestamp":1786320000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We investigated a random\u2010bred cat with sebaceous gland dysplasia. The cat presented with hypotrichosis and dark crusts on the skin. Histopathologically, sebaceous glands were enlarged and had an abnormal morphology with an increased number of undifferentiated reserve cells. Whole genome sequence analysis of the affected cat and comparison to 106 genomes of genetically diverse cats revealed a private homozygous nonsense variant in the functional candidate gene\n                    <jats:italic>SOAT1<\/jats:italic>\n                    encoding sterol O\u2010acyltransferase 1, XM_011291017.4:c.1221G&gt;A or XP_011289319.1:p.(Trp407*). Based on the known role of\n                    <jats:italic>SOAT1<\/jats:italic>\n                    in sebaceous gland function, the identified variant most likely represents the cause for the phenotype. To the best of our knowledge, we report the second pathogenic\n                    <jats:italic>SOAT1<\/jats:italic>\n                    variant in cats. These results enable diagnostic genetic testing should any new cases come under veterinary care, detection of unaffected carrier animals, and strengthen the gene\u2010phenotype relationship between\n                    <jats:italic>SOAT1<\/jats:italic>\n                    and sebaceous gland dysplasias.\n                  <\/jats:p>","DOI":"10.1002\/age.70180","type":"journal-article","created":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T00:12:06Z","timestamp":1786407126000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>SOAT1<\/i>\n                    <\/scp>\n                    Nonsense Variant in a Cat With Sebaceous Gland Dysplasia"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-5658-6493","authenticated-orcid":false,"given":"Lia","family":"Kammermann","sequence":"first","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6426-9867","authenticated-orcid":false,"given":"Joanne K.","family":"Mansell","sequence":"additional","affiliation":[{"name":"Dermatopathology Specialty Service, College of Veterinary Medicine and Biomedical Sciences Texas A&amp;M University  College Station Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2010-8038","authenticated-orcid":false,"given":"Barbara G.","family":"McMahill","sequence":"additional","affiliation":[{"name":"Pathology Services IDEXX Reference Laboratories Inc.  Lander Wyoming USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1118-9016","authenticated-orcid":false,"given":"Verena K.","family":"Affolter","sequence":"additional","affiliation":[{"name":"Department of Pathology, Microbiology, Immunology, School of Veterinary Medicine University California Davis  Davis California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8155-0041","authenticated-orcid":false,"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-4880","authenticated-orcid":false,"given":"Tosso","family":"Leeb","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2017.06.020"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22041583"},{"key":"e_1_2_7_4_1","article-title":"The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications","author":"Desmet L.","year":"2026","journal-title":"Animal Genetics"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.14303"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12834"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00438\u2010023\u201002020\u20106"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102295\u20108"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells14100747"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2012.08.010"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexmp.2015.08.016"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102290\u20100"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/dth.14695"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.168"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20103164.2011.01029.x"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/age.70180","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/age.70180","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/age.70180","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T04:50:17Z","timestamp":1787201417000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/age.70180"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/age.70180"],"URL":"https:\/\/doi.org\/10.1002\/age.70180","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"2026-05-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70180"}}