Thi-Thuy-Duong Nguyen, Da-In Choi, Kyoungtag Do, Nameun Kim, Byung-Hoon Jeong
{"title":"济州黑牛朊样蛋白Doppel (PRND)基因多态性检测。","authors":"Thi-Thuy-Duong Nguyen, Da-In Choi, Kyoungtag Do, Nameun Kim, Byung-Hoon Jeong","doi":"10.1139/gen-2024-0145","DOIUrl":null,"url":null,"abstract":"<p><p>Prion protein (PrP) plays a central role in bovine spongiform encephalopathy (BSE). Given the structural and biological similarity to PrP, recent research has focused on Doppel (Dpl) protein, which is encoded by the prion-like protein Doppel (<i>PRND</i>) gene. In this study, we characterized the <i>PRND</i> genetic polymorphism in 100 Jeju black cattle, a native Korean breed. We predicted the potential effect of nonsynonymous single nucleotide polymorphisms (SNPs) on the Dpl protein function using three in silico tools: SIFT, PANTHER, and PolyPhen-2. Finally, we performed a comparative analysis of the genotype distribution of c.395A>G (Q132R) between German BSE-infected cattle and Korean healthy cattle to assess the BSE susceptibility of Korean cattle. We found eight SNPs, including three novel SNPs c.-7C>T, c.172G>A (A58T), and c.537+83C>T. Only c.172G>A was predicted by SIFT to exert a deleterious effect. According to the comparative analysis, Holstein and Jeju black cattle exhibited a higher potential risk for BSE. To the best of our knowledge, this is the first report on the genetic characteristics of the <i>PRND</i> gene in Jeju black cattle.</p>","PeriodicalId":12809,"journal":{"name":"Genome","volume":" ","pages":"1-7"},"PeriodicalIF":2.3000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Detection of polymorphisms in the prion-like protein Doppel (<i>PRND</i>) gene in Jeju black cattle.\",\"authors\":\"Thi-Thuy-Duong Nguyen, Da-In Choi, Kyoungtag Do, Nameun Kim, Byung-Hoon Jeong\",\"doi\":\"10.1139/gen-2024-0145\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Prion protein (PrP) plays a central role in bovine spongiform encephalopathy (BSE). Given the structural and biological similarity to PrP, recent research has focused on Doppel (Dpl) protein, which is encoded by the prion-like protein Doppel (<i>PRND</i>) gene. In this study, we characterized the <i>PRND</i> genetic polymorphism in 100 Jeju black cattle, a native Korean breed. We predicted the potential effect of nonsynonymous single nucleotide polymorphisms (SNPs) on the Dpl protein function using three in silico tools: SIFT, PANTHER, and PolyPhen-2. Finally, we performed a comparative analysis of the genotype distribution of c.395A>G (Q132R) between German BSE-infected cattle and Korean healthy cattle to assess the BSE susceptibility of Korean cattle. We found eight SNPs, including three novel SNPs c.-7C>T, c.172G>A (A58T), and c.537+83C>T. Only c.172G>A was predicted by SIFT to exert a deleterious effect. According to the comparative analysis, Holstein and Jeju black cattle exhibited a higher potential risk for BSE. To the best of our knowledge, this is the first report on the genetic characteristics of the <i>PRND</i> gene in Jeju black cattle.</p>\",\"PeriodicalId\":12809,\"journal\":{\"name\":\"Genome\",\"volume\":\" \",\"pages\":\"1-7\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genome\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1139/gen-2024-0145\",\"RegionNum\":3,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"BIOTECHNOLOGY & APPLIED MICROBIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genome","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1139/gen-2024-0145","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"BIOTECHNOLOGY & APPLIED MICROBIOLOGY","Score":null,"Total":0}
Detection of polymorphisms in the prion-like protein Doppel (PRND) gene in Jeju black cattle.
Prion protein (PrP) plays a central role in bovine spongiform encephalopathy (BSE). Given the structural and biological similarity to PrP, recent research has focused on Doppel (Dpl) protein, which is encoded by the prion-like protein Doppel (PRND) gene. In this study, we characterized the PRND genetic polymorphism in 100 Jeju black cattle, a native Korean breed. We predicted the potential effect of nonsynonymous single nucleotide polymorphisms (SNPs) on the Dpl protein function using three in silico tools: SIFT, PANTHER, and PolyPhen-2. Finally, we performed a comparative analysis of the genotype distribution of c.395A>G (Q132R) between German BSE-infected cattle and Korean healthy cattle to assess the BSE susceptibility of Korean cattle. We found eight SNPs, including three novel SNPs c.-7C>T, c.172G>A (A58T), and c.537+83C>T. Only c.172G>A was predicted by SIFT to exert a deleterious effect. According to the comparative analysis, Holstein and Jeju black cattle exhibited a higher potential risk for BSE. To the best of our knowledge, this is the first report on the genetic characteristics of the PRND gene in Jeju black cattle.
期刊介绍:
Genome is a monthly journal, established in 1959, that publishes original research articles, reviews, mini-reviews, current opinions, and commentaries. Areas of interest include general genetics and genomics, cytogenetics, molecular and evolutionary genetics, developmental genetics, population genetics, phylogenomics, molecular identification, as well as emerging areas such as ecological, comparative, and functional genomics.