{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:19:25Z","timestamp":1790813965156,"version":"4.1.0"},"reference-count":40,"publisher":"Public Library of Science (PLoS)","issue":"4","license":[{"start":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T00:00:00Z","timestamp":1681776000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Research Foundation of Anicom Insurance Inc."},{"name":"Anicom Specialty Medical Institute Inc."},{"name":"Anicom Pafe Inc."},{"name":"Nippon Veterinary and Life Science University"},{"DOI":"10.13039\/100019354","name":"Azabu University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019354","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Anicom Specialty Medical Institute Inc."},{"name":"Anicom Pafe Inc."},{"name":"Anicom Pafe Inc."}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3:<jats:italic>MYBPC3<\/jats:italic>p.A31P, p.A74T, p.R820W; Myosin heavy chain 7:<jats:italic>MYH7<\/jats:italic>p.E1883K; Alstrom syndrome protein 1:<jats:italic>ALMS1<\/jats:italic>p.G3376R). These variants are considered breed-specific, with the exception of<jats:italic>MYBPC3<\/jats:italic>p.A74T, and have rarely been found in other breeds. However, genetic studies on HCM-associated variants across breeds are still insufficient because of population and breed bias caused by differences in genetic background. This study investigates the ubiquitous occurrence of HCM-associated genetic variants among cat breeds, using 57 HCM-affected, 19 HCM-unaffected, and 227 non-examined cats from the Japanese population. Genotyping of the five variants revealed the presence of<jats:italic>MYBPC3<\/jats:italic>p.A31P and<jats:italic>ALMS1<\/jats:italic>p.G3376R in two (Munchkin and Scottish Fold) and five non-specific breeds (American Shorthair, Exotic Shorthair, Minuet, Munchkin and Scottish Fold), respectively, in which the variants had not been identified previously. In addition, our results indicate that the<jats:italic>ALMS1<\/jats:italic>variants identified in the Sphynx breed might not be Sphynx-specific. Overall, our results suggest that these two specific variants may still be found in other cat breeds and should be examined in detail in a population-driven manner. Furthermore, applying genetic testing to Munchkin and Scottish Fold, the breeds with both<jats:italic>MYBPC3<\/jats:italic>and<jats:italic>ALMS1<\/jats:italic>variants, will help prevent the development of new HCM-affected cat colonies.<\/jats:p>","DOI":"10.1371\/journal.pone.0283433","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T17:22:22Z","timestamp":1681838542000},"page":"e0283433","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":14,"title":["Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan"],"prefix":"10.1371","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0049-7251","authenticated-orcid":true,"given":"Noriyoshi","family":"Akiyama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryohei","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6293-7320","authenticated-orcid":true,"given":"Yunosuke","family":"Yuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisashi","family":"Ukawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9143-3498","authenticated-orcid":true,"given":"Yuki","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2023,4,18]]},"reference":[{"key":"pone.0283433.ref001","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S1098-612X(02)00133-X","article-title":"Feline 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