{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T09:42:14Z","timestamp":1792662134227,"version":"4.5.0"},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T00:00:00Z","timestamp":1787443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T00:00:00Z","timestamp":1787443200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["310030_200354"],"award-info":[{"award-number":["310030_200354"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"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                    Junctional epidermolysis bullosa (JEB) is a hereditary skin disorder caused by defects in proteins responsible for dermal\u2010epidermal adhesion. We investigated the genetic cause of JEB in three related mixed\u2010breed puppies presenting with congenital skin blistering and ulceration. Whole\u2010genome sequencing of one affected dog followed by comparison with 1538 control genomes identified a private candidate variant, XM_038543644.1:c.5690_5691ins240, in\n                    <jats:italic>LAMA3<\/jats:italic>\n                    , a known JEB\u2010associated gene. Visual inspection of the short\u2010read alignments and Sanger sequencing revealed a homozygous 240\u2010bp SINE insertion in exon 45 that had initially been miscalled as a heterozygous short insertion. Fragment length analysis confirmed complete co\u2010segregation of the variant with the disease phenotype within the available family. The SINE insertion is flanked by a 16\u2010bp target site duplication, contains a 45\u2010nt poly(A) tail, and is predicted to remain in\u2010frame, introducing an additional 80 amino acids into the laminin \u03b13 coiled\u2010coil domain without introducing a premature stop codon. Although the molecular consequences were not functionally investigated, the insertion is expected to disrupt normal laminin\u2010332 heterotrimer assembly and secretion. This study expands the spectrum of pathogenic\n                    <jats:italic>LAMA3<\/jats:italic>\n                    variants associated with canine JEB and highlights the importance of visual inspection of short\u2010read sequencing data for the detection and correct interpretation of structurally complex variants such as transposable element insertions.\n                  <\/jats:p>","DOI":"10.1002\/age.70190","type":"journal-article","created":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T01:20:51Z","timestamp":1787534451000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>SINE<\/scp>\n                    Insertion in\n                    <i>LAMA3<\/i>\n                    in Dogs With Junctional Epidermolysis Bullosa"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2714-2370","authenticated-orcid":false,"given":"Sarah","family":"Kiener","sequence":"first","affiliation":[{"name":"Vetsuisse Faculty, Institute of Genetics University of Bern  Bern Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0961-0705","authenticated-orcid":false,"given":"Ronnie","family":"Kaufmann","sequence":"additional","affiliation":[{"name":"Veterinary Teaching Hospital, The Koret School of Veterinary Medicine, The Hebrew University of Jerusalem  Rehovot Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8221-7278","authenticated-orcid":false,"given":"Ori","family":"Brenner","sequence":"additional","affiliation":[{"name":"Department of Veterinary Resources Weizmann Institute of Science  Rehovot 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Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,23]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5001706"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-020-0210-0"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12711-023-00814-1"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2004.23584.x"},{"key":"e_1_2_11_6_1","doi-asserted-by":"crossref","DOI":"10.1002\/age.70197","article-title":"The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications","author":"Desmet L.","year":"2026","journal-title":"Animal 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