{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T01:15:58Z","timestamp":1794446158894,"version":"4.9.1"},"reference-count":46,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T00:00:00Z","timestamp":1571875200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T00:00:00Z","timestamp":1571875200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Prion diseases in sheep and goats are called scrapie and belong to a group of transmissible spongiform encephalopathies (TSEs) caused by the abnormal misfolding of the prion protein encoded by the prion protein gene (<jats:italic>PRNP<\/jats:italic>). The shadow of the prion protein gene (<jats:italic>SPRN<\/jats:italic>) is the only prion gene family member that shows a protein expression profile similar to that of the <jats:italic>PRNP<\/jats:italic> gene in the central nervous system. In addition, genetic susceptibility of the <jats:italic>SPRN<\/jats:italic> gene has been reported in variant Creutzfeldt\u2013Jakob disease (CJD), bovine spongiform encephalopathy (BSE) and scrapie. However, genetic studies of the <jats:italic>SPRN<\/jats:italic> gene have not been carried out in Korean native black goats. Here, we investigated the genotype and allele frequencies of <jats:italic>SPRN<\/jats:italic> polymorphisms in 213 Korean native black goats and compared these polymorphisms with those previously reported for scrapie-affected animals. We found a total of 6 polymorphisms including 1 nonsynonymous single nucleotide polymorphism (SNP) and 1 synonymous SNP in the open reading frame (ORF) region and 3 SNPs and 1 indel polymorphism (c.495_496insCTCCC) in the 3\u2032 untranslated region (UTR) by direct DNA sequencing. A significant difference in the allele frequency of the c.495_496insCTCCC indel polymorphism was found between the Italian scrapie-affected goats and the Korean native black goats (P\u2009&lt;\u20090.001). Furthermore, there was a significant difference in the allele frequencies of the c.495_496insCTCCC indel polymorphism between Italian healthy goats and Korean native black goats (P\u2009&lt;\u20090.001). To evaluate the biological impact of the novel nonsynonymous SNP c.416G\u2009&gt;\u2009A (Arg139Gln), we carried out PROVEAN analysis. PROVEAN predicted the SNP as \u2018Neutral\u2019 with a score of \u22120.297. To the best of our knowledge, this is the first genetic study of the <jats:italic>SPRN<\/jats:italic> gene in Korean native black goats.<\/jats:p>","DOI":"10.1038\/s41598-019-51625-8","type":"journal-article","created":{"date-parts":[[2019,10,25]],"date-time":"2019-10-25T12:20:45Z","timestamp":1572006045000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Scrapie susceptibility-associated indel polymorphism of shadow of prion protein gene (SPRN) in Korean native black goats"],"prefix":"10.1038","volume":"9","author":[{"given":"Yong-Chan","family":"Kim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seon-Kwan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4525-9994","authenticated-orcid":false,"given":"Byung-Hoon","family":"Jeong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,10,24]]},"reference":[{"key":"51625_CR1","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1111\/j.1750-3639.1998.tb00171.x","volume":"8","author":"SB Prusiner","year":"1998","unstructured":"Prusiner, S. 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