{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T04:16:28Z","timestamp":1793420188371,"version":"4.5.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T00:00:00Z","timestamp":1655510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T00:00:00Z","timestamp":1655510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["18K05969 and 22K05985"],"award-info":[{"award-number":["18K05969 and 22K05985"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Vet Res"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Cases of gastrointestinal (GI) neoplastic polyps in Jack Russell Terriers (JRTs) have increased in Japan since the late 2000s. We recently demonstrated that JRTs with GI polyps heterozygously harbor an identical germline variant in the <jats:italic>adenomatous polyposis coli<\/jats:italic> (<jats:italic>APC<\/jats:italic>) gene, c.[462_463delinsTT]; therefore, this is an autosomal dominant hereditary disease. We conducted a molecular epidemiological study to explore the current frequency of the <jats:italic>APC<\/jats:italic> variant in JRTs in Japan and the breed distribution of this disease.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Peripheral blood samples from 792 JRTs were collected at 93 veterinary hospitals in Japan in 2020. Using an established polymerase chain reaction-restriction fragment length polymorphism assay, the germline <jats:italic>APC<\/jats:italic> variant was detected in 15 JRTs, with an overall frequency of 1.89%. The frequency was not significantly different for sex, age, and coat type criteria. Notably, the variant carriers had a current or previous history of GI neoplastic polyps, providing further evidence of the association of the germline <jats:italic>APC<\/jats:italic> variant with GI polyposis. Pedigree analysis of carrier dogs revealed that the germline <jats:italic>APC<\/jats:italic> variant was no longer confined to a few specific families but was widely spread among JRTs in Japan. Furthermore, some ancestors of the carriers were from Australia or New Zealand, suggesting the possible presence of carriers in countries other than Japan. Next, we retrospectively investigated the germline <jats:italic>APC<\/jats:italic> variant status of dogs with GI epithelial tumors using genomic DNA samples extracted from\u00a0archived pathological specimens (28 purebred dogs of 14 breeds and four mixed-breed dog), as well as those stored in a canine genome bank (38 dogs of 18 breeds and a mixed-breed dogs). In total, 66 purebred dogs of 25 breeds, including another four JRTs, and five mixed-breed dogs were examined. While three variant carriers were found in JRTs, the germline <jats:italic>APC<\/jats:italic> variant was not detected in any of the other breeds.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The current frequency of the germline <jats:italic>APC<\/jats:italic> variant was approximately 2% in JRTs in Japan and the frequency remained roughly flat during the last 15\u00a0years. In addition, hereditary GI polyposis associated with the variant was virtually specific to JRTs.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12917-022-03338-w","type":"journal-article","created":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T07:10:53Z","timestamp":1655536253000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution"],"prefix":"10.1186","volume":"18","author":[{"given":"Kyoko","family":"Yoshizaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Matsushita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Sakaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wakana","family":"Yoneji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keishi","family":"Owaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,18]]},"reference":[{"key":"3338_CR1","first-page":"249","volume-title":"The Dog and Its Genome","author":"U Giger","year":"2006","unstructured":"Giger U, Sargan DR, McNiel EA. Breed-specific Hereditary Diseases and Genetic Screening. In: Ostrander EA, Giger U, Lindblad-Toh K, editors. The Dog and Its Genome. New York: Cold Spring Harbor Laboratory Press; 2006. p. 249\u201389."},{"key":"3338_CR2","volume-title":"Histological classification of tumors of the alimentary system of domestic animals","author":"KW Head","year":"2003","unstructured":"Head KW, Cullen JM, Dubielzig RR. Histological classification of tumors of the alimentary system of domestic animals, vol. 10. Washington DC: Armed Forces Institute of Pathology; 2003."},{"key":"3338_CR3","doi-asserted-by":"crossref","unstructured":"Munday JS, L\u00f6hr CV, Kiupel M. Tumors of the Alimentary Tract. In: Meuten DJ. Tumors in Domestic Animals. 5 Ed. 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PLoS One. 2017;12(1):e0169002.","journal-title":"PLoS One"}],"container-title":["BMC Veterinary Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12917-022-03338-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12917-022-03338-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12917-022-03338-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,18]],"date-time":"2022-06-18T07:13:57Z","timestamp":1655536437000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcvetres.biomedcentral.com\/articles\/10.1186\/s12917-022-03338-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,18]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["3338"],"URL":"https:\/\/doi.org\/10.1186\/s12917-022-03338-w","relation":{},"ISSN":["1746-6148"],"issn-type":[{"value":"1746-6148","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,18]]},"assertion":[{"value":"14 April 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 June 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Blood samples and pedigree certificates were collected with written informed consent from all dog owners and with approval of the Committee of Animal Research and Welfare of Gifu University (approval number: 2019\u2013156). All methods were performed in accordance with the regulations for animal experiments at Gifu University. This study is reported in accordance with the ARRIVE guidelines.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declared that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"230"}}