{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T14:02:34Z","timestamp":1790085754116,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"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":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Ivermectin\u2010associated neurotoxicity is a potentially life\u2010threatening condition caused by disruption of the\n                    <jats:italic>ABCB1<\/jats:italic>\n                    encoded P\u2010glycoprotein drug transporter in certain dog breeds. Skye terriers are considered at increased risk of ivermectin toxicity despite the absence of an identified molecular cause. We searched the Dog10K variant dataset for\n                    <jats:italic>ABCB1<\/jats:italic>\n                    variants potentially underlying ivermectin sensitivity in Skye terriers and screened an independent cohort of 27 dogs to confirm sequence variants. A 1\u2010bp frameshift deletion predicted to cause loss of function in\n                    <jats:italic>ABCB1<\/jats:italic>\n                    was identified in two of three Skye terriers in the Dog10K dataset and was absent from all 1869 non\u2010Skye\u2010terrier genomes. The variant had an allele frequency of 16.7% in the independent Skye terrier cohort. This is the first reported\n                    <jats:italic>ABCB1<\/jats:italic>\n                    variant in Skye terriers and represents a plausible candidate genetic basis for the anecdotally observed ivermectin sensitivity in the breed.\n                  <\/jats:p>","DOI":"10.1002\/age.70213","type":"journal-article","created":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T13:20:52Z","timestamp":1790083252000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>ABCB1<\/i>\n                    Frameshift Deletion in Skye Terriers With Potential Pharmacogenetic Relevance"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8537-1807","authenticated-orcid":false,"given":"Monica","family":"Nielsen","sequence":"first","affiliation":[{"name":"Department of Veterinary Clinical Sciences, Section for Diagnostic Imaging, Surgery and Clinical Specialties University of Copenhagen  Frederiksberg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5582-1816","authenticated-orcid":false,"given":"Hanne","family":"Gredal","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences, Section for Diagnostic Imaging, Surgery and Clinical Specialties University of Copenhagen  Frederiksberg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0198-4796","authenticated-orcid":false,"given":"\u00c5sa","family":"Karlsson","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Microbiology Uppsala University  Uppsala Sweden"},{"name":"SciLifeLab Uppsala University  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0850-230X","authenticated-orcid":false,"given":"Jennifer R. S.","family":"Meadows","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Microbiology Uppsala University  Uppsala Sweden"},{"name":"SciLifeLab Uppsala University  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1404-172X","authenticated-orcid":false,"given":"Maja","family":"Arendt","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Sciences, Section for Diagnostic Imaging, Surgery and Clinical Specialties University of Copenhagen  Frederiksberg Denmark"},{"name":"Department of Medical Biochemistry and Microbiology Uppsala University  Uppsala Sweden"},{"name":"SciLifeLab Uppsala University  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,22]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"crossref","first-page":"giab008","DOI":"10.1093\/gigascience\/giab008","article-title":"Twelve Years of SAMtools and BCFtools","volume":"10","author":"Danecek P.","year":"2021","journal-title":"GigaScience"},{"key":"e_1_2_12_3_1","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1111\/j.1365-2885.2005.00692.x","article-title":"Frequency of the nt230 (del4) MDR1 Mutation in Collies and Related Dog Breeds in Germany","volume":"28","author":"Geyer J.","year":"2005","journal-title":"Journal of Veterinary Pharmacology and Therapeutics"},{"key":"e_1_2_12_4_1","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1111\/j.1365-2885.2007.00885.x","article-title":"Detection of the nt230(del4) MDR1 Mutation in White Swiss Shepherd Dogs: Case Reports of Doramectin Toxicosis, Breed Predisposition, and Microsatellite Analysis","volume":"30","author":"Geyer J.","year":"2007","journal-title":"Journal of Veterinary Pharmacology and Therapeutics"},{"key":"e_1_2_12_5_1","doi-asserted-by":"crossref","first-page":"341","DOI":"10.4142\/jvs.2010.11.4.341","article-title":"Novel Insertion Mutation of ABCB1 Gene in an Ivermectin\u2010Sensitive Border Collie","volume":"11","author":"Han J. I.","year":"2010","journal-title":"Journal of Veterinary Science"},{"key":"e_1_2_12_6_1","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1093\/bioinformatics\/btu031","article-title":"InterProScan 5: Genome\u2010Scale Protein Function Classification","volume":"30","author":"Jones P.","year":"2014","journal-title":"Bioinformatics"},{"key":"e_1_2_12_7_1","doi-asserted-by":"crossref","DOI":"10.1136\/vetreco-2019-000375","article-title":"Genotypic and Allelic Frequencies of MDR1 Gene in Dogs in Italy","volume":"7","author":"Marelli S. P.","year":"2020","journal-title":"Veterinary Record Open"},{"key":"e_1_2_12_8_1","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl Variant Effect Predictor","volume":"17","author":"McLaren W.","year":"2016","journal-title":"Genome Biology"},{"key":"e_1_2_12_9_1","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1186\/s13059-023-03023-7","article-title":"Genome Sequencing of 2000 Canids by the Dog10K Consortium Advances the Understanding of Demography, Genome Function and Architecture","volume":"24","author":"Meadows J. R. S.","year":"2023","journal-title":"Genome Biology"},{"key":"e_1_2_12_10_1","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1097\/00008571-200111000-00012","article-title":"Ivermectin Sensitivity in Collies Is Associated With a Deletion Mutation of the mdr1 Gene","volume":"11","author":"Mealey K. L.","year":"2001","journal-title":"Pharmacogenetics"},{"key":"e_1_2_12_11_1","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1111\/j.1939-1676.2008.0122.x","article-title":"ABCB1\u20101\u0394 Polymorphism Can Predict Hematologic Toxicity in Dogs Treated With Vincristine","volume":"22","author":"Mealey K. L.","year":"2008","journal-title":"Journal of Veterinary Internal Medicine"},{"key":"e_1_2_12_12_1","doi-asserted-by":"crossref","first-page":"921","DOI":"10.2460\/javma.233.6.921","article-title":"Breed Distribution of the ABCB1\u20101\u0394 (Multidrug Sensitivity) Polymorphism Among Dogs Undergoing ABCB1 Genotyping","volume":"233","author":"Mealey K. L.","year":"2008","journal-title":"Journal of the American Veterinary Medical Association"},{"key":"e_1_2_12_13_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/jvp.13102","article-title":"Canine and Feline P\u2010Glycoprotein Deficiency: What We Know and Where We Need to Go","volume":"46","author":"Mealey K. L.","year":"2023","journal-title":"Journal of Veterinary Pharmacology and Therapeutics"},{"key":"e_1_2_12_14_1","doi-asserted-by":"crossref","first-page":"11725","DOI":"10.1073\/pnas.0402374101","article-title":"Breed Distribution and History of Canine mdr1\u20101Delta, a Pharmacogenetic Mutation That Marks the Emergence of Breeds From the Collie Lineage","volume":"101","author":"Neff M. W.","year":"2004","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"key":"e_1_2_12_15_1","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1093\/bioinformatics\/bts091","article-title":"Unipro UGENE: A Unified Bioinformatics Toolkit","volume":"28","author":"Okonechnikov K.","year":"2012","journal-title":"Bioinformatics"},{"key":"e_1_2_12_16_1","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S0169-409X(98)00085-4","article-title":"P\u2010Glycoprotein, a Gatekeeper in the Blood\u2013Brain Barrier","volume":"36","author":"Schinkel A. H.","year":"1999","journal-title":"Advanced Drug Delivery Reviews"},{"key":"e_1_2_12_17_1","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1111\/avj.12896","article-title":"Breed Is Associated With the ABCB1\u20101\u0394 Mutation in Australian Dogs","volume":"98","author":"Soussa R. 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