{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T09:39:27Z","timestamp":1770197967049,"version":"3.49.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":643,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,4,13]],"date-time":"2024-04-13T00:00:00Z","timestamp":1712966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,5,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>X-linked dystrophin-deficient muscular dystrophy (MD) is a form of MD caused by variants in the DMD gene. It is a fatal disease characterized by progressive weakness and degeneration of skeletal muscles.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Hypothesis\/Objectives<\/jats:title>\n                    <jats:p>Identify deleterious genetic variants in DMD by whole-genome sequencing (WGS) using a next-generation sequencer.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>One MD-affected cat, its parents, and 354 cats from a breeding colony.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We compared the WGS data of the affected cat with data available in the National Center for Biotechnology Information database and searched for candidate high-impact variants by in silico analyses. Next, we confirmed the candidate variants by Sanger sequencing using samples from the parents and cats from the breeding colony. We used 2 genome assemblies, the standard felCat9 (from an Abyssinian cat) and the novel AnAms1.0 (from an American Shorthair cat), to evaluate genome assembly differences.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We found 2 novel high-impact variants: a 1-bp deletion in felCat9 and an identical nonsense variant in felCat9 and AnAms1.0. Whole genome and Sanger sequencing validation showed that the deletion in felCat9 was a false positive because of misassembly. Among the 357 cats, the nonsense variant was only found in the affected cat, which indicated it was a de novo variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion and Clinical Importance<\/jats:title>\n                    <jats:p>We identified a de novo variant in the affected cat and next-generation sequencing-based genotyping of the whole DMD gene was determined to be necessary for affected cats because the parents of the affected cat did not have the risk variant.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.17078","type":"journal-article","created":{"date-parts":[[2024,4,13]],"date-time":"2024-04-13T06:45:10Z","timestamp":1712990710000},"page":"1418-1424","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A de novo nonsense variant in the\n                    <i>DMD<\/i>\n                    gene associated with X-linked dystrophin-deficient muscular dystrophy in a cat"],"prefix":"10.1093","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2077-0523","authenticated-orcid":false,"given":"Nozomu","family":"Yokoyama","sequence":"first","affiliation":[{"name":"Graduate School of Veterinary Medicine, Hokkaido University Laboratory of Veterinary Internal Medicine, Department of Veterinary Clinical Sciences, , Sapporo,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9143-3498","authenticated-orcid":false,"given":"Yuki","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Anicom Insurance, Inc. , Tokyo,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahisa","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Graduate School of Veterinary Medicine, Hokkaido University Veterinary Teaching Hospital, Department of Veterinary Clinical Sciences, , Sapporo,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuki","family":"Okada","sequence":"additional","affiliation":[{"name":"North Lab , Sapporo,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryohei","family":"Kinoshita","sequence":"additional","affiliation":[{"name":"Graduate School of Veterinary Medicine, Hokkaido University Veterinary Teaching Hospital, Department of Veterinary Clinical Sciences, , Sapporo,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genya","family":"Shimbo","sequence":"additional","affiliation":[{"name":"Graduate School of Veterinary Medicine, Hokkaido University Veterinary Teaching Hospital, Department of Veterinary Clinical Sciences, , Sapporo,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisashi","family":"Ukawa","sequence":"additional","affiliation":[{"name":"Anicom Insurance, Inc. , Tokyo,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryuga","family":"Ishii","sequence":"additional","affiliation":[{"name":"Anicom Insurance, Inc. , Tokyo,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1010-3228","authenticated-orcid":false,"given":"Kensuke","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Graduate School of Veterinary Medicine, Hokkaido University Laboratory of Veterinary Internal Medicine, Department of Veterinary Clinical Sciences, , Sapporo,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3241-7869","authenticated-orcid":false,"given":"Jumpei","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"Translational Research Unit, Veterinary Teaching Hospital, Faculty of Veterinary Medicine, Hokkaido University , Sapporo, Hokkaido,","place":["Japan"]},{"name":"One Health Research Center, Hokkaido University , Sapporo, Hokkaido,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7648-7036","authenticated-orcid":false,"given":"Mitsuyoshi","family":"Takiguchi","sequence":"additional","affiliation":[{"name":"Graduate School of Veterinary Medicine, Hokkaido University Laboratory of Veterinary Internal Medicine, Department of Veterinary Clinical Sciences, , Sapporo,","place":["Japan"]},{"name":"One Health Research Center, Hokkaido University , Sapporo, Hokkaido,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,5,1]]},"reference":[{"key":"2026020305121296500_jvim17078-bib-0001","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/0022-510X(92)90022-D","article-title":"Dystrophin deficiency causes lethal muscle hypertrophy in cats","volume":"110","author":"Gaschen","year":"1992","journal-title":"J 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