The liver contributes to lipid metabolism as the hub of fat synthesis. Long non-coding RNAs (lncRNAs) are considered the regulators of cellular processes. Since LncRNA ENSGALG00000021686 (lncRNA 21 686) has been described as a regulator of lipid metabolism, the present study aimed to clarify the role of lncRNA 21 686 in chicken hepatocytes’ lipid metabolism. Thirty-two chickens were divided into four groups and were treated with diets containing different amounts of fat, and the hepatic expression of lncRNA 21 686 and miR-146b along with the levels of proteins involved in the regulation of fat metabolism, lipid indices and oxidative stress were measured. Moreover, primary chicken hepatocytes were transfected with lncRNA 21 686 small interfering RNA or microRNA (miRNA, miR)-146b mimics to measure the consequences of suppressing lncRNA or inducing miRNA expression on the levels of proteins involved in fat metabolism and stress markers. The results showed that the high-fat diet modulated the expression of lncRNA 21 686 and miR-146b (p-value < 0.001). Moreover, there was a significant increase in 1-acyl-sn-glycerol-3-phosphate acyltransferase 2 (AGPAT2) gene expression and protein levels and modulated fat-related markers. Furthermore, the results showed that lncRNA 21 686 suppression reduced the expression of AGPAT2 and its downstream proteins (p-value < 0.05). Overexpression of miR-146b regulated fat metabolism indicator expression. Transfection experiments revealed that lncRNA 21 686 suppression increased miR-146b expression. The findings suggested a novel mechanism containing lncRNA 21 686/miR-146b/AGPAT2 in the regulation of fat metabolism in chicken hepatocytes.
{"title":"LncRNA ENSGALG00000021686 regulates fat metabolism in chicken hepatocytes via miR-146b/AGPAT2 pathway","authors":"Wenhao Xing, Shijie Li","doi":"10.1111/age.13405","DOIUrl":"10.1111/age.13405","url":null,"abstract":"<p>The liver contributes to lipid metabolism as the hub of fat synthesis. Long non-coding RNAs (lncRNAs) are considered the regulators of cellular processes. Since <i>LncRNA ENSGALG00000021686</i> (lncRNA 21 686) has been described as a regulator of lipid metabolism, the present study aimed to clarify the role of <i>lncRNA 21 686</i> in chicken hepatocytes’ lipid metabolism. Thirty-two chickens were divided into four groups and were treated with diets containing different amounts of fat, and the hepatic expression of <i>lncRNA 21 686</i> and miR-146b along with the levels of proteins involved in the regulation of fat metabolism, lipid indices and oxidative stress were measured. Moreover, primary chicken hepatocytes were transfected with <i>lncRNA 21 686</i> small interfering RNA or microRNA (miRNA, <i>miR</i>)<i>-146b</i> mimics to measure the consequences of suppressing lncRNA or inducing miRNA expression on the levels of proteins involved in fat metabolism and stress markers. The results showed that the high-fat diet modulated the expression of <i>lncRNA 21 686</i> and <i>miR-146b</i> (<i>p</i>-value < 0.001). Moreover, there was a significant increase in 1-acyl-sn-glycerol-3-phosphate acyltransferase 2 (<i>AGPAT2</i>) gene expression and protein levels and modulated fat-related markers. Furthermore, the results showed that <i>lncRNA 21 686</i> suppression reduced the expression of <i>AGPAT2</i> and its downstream proteins (<i>p</i>-value < 0.05). Overexpression of <i>miR-146b</i> regulated fat metabolism indicator expression. Transfection experiments revealed that <i>lncRNA 21 686</i> suppression increased <i>miR-146b</i> expression. The findings suggested a novel mechanism containing <i>lncRNA 21 686</i>/<i>miR-146b</i>/<i>AGPAT2</i> in the regulation of fat metabolism in chicken hepatocytes.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Transgenic (Tg) animal technology is one of the growing areas in biology. Various Tg technologies, each with its own advantages and disadvantages, are available for generating Tg animals. These include zygote microinjection, electroporation, viral infection, embryonic stem cell or spermatogonial stem cell-mediated production of Tg animals, sperm-mediated gene transfer (SMGT), and testis-mediated gene transfer (TMGT). However, there are currently no comprehensive studies comparing SMGT and TMGT methods, selecting appropriate gene delivery carriers (such as nanoparticles and liposomes), and determining the optimal route for gene delivery (SMGT and TMGT) for producing Tg animal. Here we aim to provide a comprehensive assessment comparing SMGT and TMGT methods, and to introduce the best carriers and gene transfer methods to sperm and testis to generate Tg animals in different species. From 2010 to 2022, 47 studies on SMGT and 25 studies on TMGT have been conducted. Mice and rats were the most commonly used species in SMGT and TMGT. Regarding the SMGT approach, nanoparticles, streptolysin-O, and virus packaging were found to be the best gene transfer methods for generating Tg mice. In the TMGT method, the best gene transfer methods for generating Tg mice and rats were virus packaging, dimethyl sulfoxide, electroporation, and liposome. Our study has shown that the efficiency of producing Tg animals varies depending on the species, gene carrier, and method of gene transfer.
{"title":"Comparison of two methods of sperm- and testis-mediated gene transfer in production of transgenic animals: A systematic review","authors":"Zeinab Dehghan, Gholamhossein Darya, Shayesteh Mehdinejadiani, Amin Derakhshanfar","doi":"10.1111/age.13404","DOIUrl":"10.1111/age.13404","url":null,"abstract":"<p>Transgenic (Tg) animal technology is one of the growing areas in biology. Various Tg technologies, each with its own advantages and disadvantages, are available for generating Tg animals. These include zygote microinjection, electroporation, viral infection, embryonic stem cell or spermatogonial stem cell-mediated production of Tg animals, sperm-mediated gene transfer (SMGT), and testis-mediated gene transfer (TMGT). However, there are currently no comprehensive studies comparing SMGT and TMGT methods, selecting appropriate gene delivery carriers (such as nanoparticles and liposomes), and determining the optimal route for gene delivery (SMGT and TMGT) for producing Tg animal. Here we aim to provide a comprehensive assessment comparing SMGT and TMGT methods, and to introduce the best carriers and gene transfer methods to sperm and testis to generate Tg animals in different species. From 2010 to 2022, 47 studies on SMGT and 25 studies on TMGT have been conducted. Mice and rats were the most commonly used species in SMGT and TMGT. Regarding the SMGT approach, nanoparticles, streptolysin-O, and virus packaging were found to be the best gene transfer methods for generating Tg mice. In the TMGT method, the best gene transfer methods for generating Tg mice and rats were virus packaging, dimethyl sulfoxide, electroporation, and liposome. Our study has shown that the efficiency of producing Tg animals varies depending on the species, gene carrier, and method of gene transfer.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13404","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139740202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emil Ibragimov, Esben Østergaard Eriksen, Jens Peter Nielsen, Claus B. Jørgensen, Merete Fredholm, Peter Karlskov-Mortensen
Post-weaning diarrhea in pigs is a considerable challenge in the pig farming industry due to its effect on animal welfare and production costs, as well as the large volume of antibiotics, which are used to treat diarrhea in pigs after weaning. Previous studies have revealed loci on SSC6 and SSC13 associated with susceptibility to specific diarrhea causing pathogens. This study aimed to identify new genetic loci for resistance to diarrhea based on phenotypic data. In depth clinical characterization of diarrhea was performed in 257 pigs belonging to two herds during the first 14 days post weaning. The daily diarrhea assessments were used for the classification of pigs into case and control groups. Pigs were assigned to case and control groups based only on the incidence of diarrhea in the second week of the study in order to differentiate between differences in etiology. Genome-wide association studies and metabolomics association analysis were performed in order to identify new biological determinants for diarrhea susceptibility. With the present work, we revealed a new locus for diarrhea resistance on SSC16. Furthermore, studies of metabolomics in the same pigs revealed one metabolite associated with diarrhea.
{"title":"Towards identification of new genetic determinants for post-weaning diarrhea in piglets","authors":"Emil Ibragimov, Esben Østergaard Eriksen, Jens Peter Nielsen, Claus B. Jørgensen, Merete Fredholm, Peter Karlskov-Mortensen","doi":"10.1111/age.13406","DOIUrl":"10.1111/age.13406","url":null,"abstract":"<p>Post-weaning diarrhea in pigs is a considerable challenge in the pig farming industry due to its effect on animal welfare and production costs, as well as the large volume of antibiotics, which are used to treat diarrhea in pigs after weaning. Previous studies have revealed loci on SSC6 and SSC13 associated with susceptibility to specific diarrhea causing pathogens. This study aimed to identify new genetic loci for resistance to diarrhea based on phenotypic data. In depth clinical characterization of diarrhea was performed in 257 pigs belonging to two herds during the first 14 days post weaning. The daily diarrhea assessments were used for the classification of pigs into case and control groups. Pigs were assigned to case and control groups based only on the incidence of diarrhea in the second week of the study in order to differentiate between differences in etiology. Genome-wide association studies and metabolomics association analysis were performed in order to identify new biological determinants for diarrhea susceptibility. With the present work, we revealed a new locus for diarrhea resistance on SSC16. Furthermore, studies of metabolomics in the same pigs revealed one metabolite associated with diarrhea.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13406","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139721295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Luísa Azevedo, Andreia P. Amaro, João Niza-Ribeiro, Mónica Lopes-Marques
With the advent of next-generation sequencing, an increasing number of cases of de novo variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understanding the pathology of early-onset diseases in animals and can provide valuable insights into similar diseases in humans. With the aim of collecting deleterious de novo variants in domestic animals, we searched the scientific literature and compiled reports on 42 de novo variants in 31 genes in domestic animals. No clear disease-associated phenotype has been established in humans for three of these genes (NUMB, ANKRD28 and KCNG1). For the remaining 28 genes, a strong similarity between animal and human phenotypes was recognized from available information in OMIM and OMIA, revealing the importance of comparative studies and supporting the use of domestic animals as natural models for human diseases, in line with the One Health approach.
{"title":"Naturally occurring genetic diseases caused by de novo variants in domestic animals","authors":"Luísa Azevedo, Andreia P. Amaro, João Niza-Ribeiro, Mónica Lopes-Marques","doi":"10.1111/age.13403","DOIUrl":"10.1111/age.13403","url":null,"abstract":"<p>With the advent of next-generation sequencing, an increasing number of cases of <i>de novo</i> variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understanding the pathology of early-onset diseases in animals and can provide valuable insights into similar diseases in humans. With the aim of collecting deleterious <i>de novo</i> variants in domestic animals, we searched the scientific literature and compiled reports on 42 <i>de novo</i> variants in 31 genes in domestic animals. No clear disease-associated phenotype has been established in humans for three of these genes (<i>NUMB</i>, <i>ANKRD28</i> and <i>KCNG1</i>). For the remaining 28 genes, a strong similarity between animal and human phenotypes was recognized from available information in OMIM and OMIA, revealing the importance of comparative studies and supporting the use of domestic animals as natural models for human diseases, in line with the One Health approach.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13403","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139696831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Analysis of genetic variants in protein-coding genes of Aoluguya reindeer based on the whole-genome data","authors":"Wenfeng Yi, Mingyue Hu, Lulu Shi, Ting Li, Hao Sun, Lihong Qin, Shouqing Yan","doi":"10.1111/age.13402","DOIUrl":"10.1111/age.13402","url":null,"abstract":"","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139690981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The establishment of high-quality pork breeds for improving meat quality in the pig industry is needed. The Chuxiang Black (CX) pig is a new breed developed from Chinese local pigs and Western lean pigs that has a high proportion of lean meat and excellent meat quality. However, the characteristics of cis-regulatory elements in CX pigs are still unknown. In this study, cis-regulatory elements of muscle and adipose tissues in CX pigs were investigated using ChIP-seq and RNA sequencing. Compared with the reported cis-regulatory elements of muscle and adipose tissues, 1768 and 1012 highly activated enhancers and 433 and 275 highly activated promoters in CX muscle and adipose tissues were identified, respectively. Motif analysis showed that transcription factors, such as MEF2A and MEF2C, were core regulators of highly activated enhancers and promoters in muscle. Similarly, the transcription factors JUNB and CUX1 were identified as essential for highly activated enhancers and promoters in CX adipose tissue. These results enrich the resources for the analysis of cis-regulatory elements in the pig genome and provide new basic data for further meat quality improvement through breeding in pigs.
{"title":"H3K27ac modification and transcription characteristics of adipose and muscle tissues in Chuxiang Black pig","authors":"Renzhuo Kuang, Zhixiang Xu, Honghong Zhou, Zhao Zhang, Hao Peng, Daoyuan Wang, Xuewen Xu, Shuhong Zhao, Yunxia Zhao, Mengjin Zhu","doi":"10.1111/age.13400","DOIUrl":"10.1111/age.13400","url":null,"abstract":"<p>The establishment of high-quality pork breeds for improving meat quality in the pig industry is needed. The Chuxiang Black (CX) pig is a new breed developed from Chinese local pigs and Western lean pigs that has a high proportion of lean meat and excellent meat quality. However, the characteristics of cis-regulatory elements in CX pigs are still unknown. In this study, cis-regulatory elements of muscle and adipose tissues in CX pigs were investigated using ChIP-seq and RNA sequencing. Compared with the reported cis-regulatory elements of muscle and adipose tissues, 1768 and 1012 highly activated enhancers and 433 and 275 highly activated promoters in CX muscle and adipose tissues were identified, respectively. Motif analysis showed that transcription factors, such as <i>MEF2A</i> and <i>MEF2C</i>, were core regulators of highly activated enhancers and promoters in muscle. Similarly, the transcription factors <i>JUNB</i> and <i>CUX1</i> were identified as essential for highly activated enhancers and promoters in CX adipose tissue. These results enrich the resources for the analysis of cis-regulatory elements in the pig genome and provide new basic data for further meat quality improvement through breeding in pigs.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139656470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yang Shen, Yuxi Chen, Shufeng Zhang, Ze Wu, Xiaoyu Lu, Weizhen Liu, Bang Liu, Xiang Zhou
Intramuscular fat (IMF) content and distribution significantly contribute to the eating quality of pork. However, the current methods used for measuring these traits are complex, time-consuming and costly. To simplify the measurement process, this study developed a smartphone application (App) called Pork IMF. This App serves as a rapid and portable phenotyping tool for acquiring pork images and extracting the image-based IMF traits through embedded deep-learning algorithms. Utilizing this App, we collected the IMF traits of the longissimus dorsi muscle in a crossbred population of Large White × Tongcheng pigs. Genome-wide association studies detected 13 and 16 SNPs that were significantly associated with IMF content and distribution, respectively, highlighting NR2F2, MCTP2, MTLN, ST3GAL5, NDUFAB1 and PID1 as candidate genes. Our research introduces a user-friendly digital phenotyping technology for quantifying IMF traits and suggests candidate genes and SNPs for genetic improvement of IMF traits in pigs.
肌内脂肪(IMF)含量和分布对猪肉的食用品质有很大影响。然而,目前用于测量这些性状的方法复杂、耗时且成本高昂。为了简化测量过程,本研究开发了一款名为 "猪肉肌内脂肪 "的智能手机应用程序(App)。该应用程序是一种快速、便携的表型工具,用于获取猪肉图像,并通过嵌入式深度学习算法提取基于图像的 IMF 特征。利用该应用程序,我们收集了大白×桐城猪杂交群体背阔肌的 IMF 性状。全基因组关联研究分别发现了 13 个和 16 个与 IMF 含量和分布显著相关的 SNPs,其中 NR2F2、MCTP2、MTLN、ST3GAL5、NDUFAB1 和 PID1 为候选基因。我们的研究引入了一种用户友好型数字表型技术来量化IMF性状,并为猪IMF性状的遗传改良提出了候选基因和SNPs。
{"title":"Smartphone-based digital phenotyping for genome-wide association study of intramuscular fat traits in longissimus dorsi muscle of pigs","authors":"Yang Shen, Yuxi Chen, Shufeng Zhang, Ze Wu, Xiaoyu Lu, Weizhen Liu, Bang Liu, Xiang Zhou","doi":"10.1111/age.13401","DOIUrl":"10.1111/age.13401","url":null,"abstract":"<p>Intramuscular fat (IMF) content and distribution significantly contribute to the eating quality of pork. However, the current methods used for measuring these traits are complex, time-consuming and costly. To simplify the measurement process, this study developed a smartphone application (App) called Pork IMF. This App serves as a rapid and portable phenotyping tool for acquiring pork images and extracting the image-based IMF traits through embedded deep-learning algorithms. Utilizing this App, we collected the IMF traits of the longissimus dorsi muscle in a crossbred population of Large White × Tongcheng pigs. Genome-wide association studies detected 13 and 16 SNPs that were significantly associated with IMF content and distribution, respectively, highlighting <i>NR2F2</i>, <i>MCTP2</i>, <i>MTLN</i>, <i>ST3GAL5</i>, <i>NDUFAB1</i> and <i>PID1</i> as candidate genes. Our research introduces a user-friendly digital phenotyping technology for quantifying IMF traits and suggests candidate genes and SNPs for genetic improvement of IMF traits in pigs.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139641460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Leena Honkanen, Robert Loechel, Stephen Davison, Jonas Donner, Heidi Anderson
The coat color phenotype ‘sable’ occurs in the English Cocker Spaniel dog breed. It closely resembles other canine color patterns known as domino/grizzle/pied (eA allele) and grizzle/domino (eG allele) determined by variants in the melanocortin 1 receptor gene (MC1R; ‘extension’ or E locus), a key multi-allele regulator of coat color. We examined genetic variation in MC1R, and found one new non-synonymous variant, c.250G>A (p.(Asp84Asn)), consistently associated with the English Cocker Spaniel ‘sable’ phenotype. We propose calling this newly identified allele eH and further show that the eA, eH and eG (previously known as EG) alleles associate with similar phenotypes in dogs impacting genotypes regulated by beta-defensin 103 gene (CBD103; K locus) and agouti signaling protein gene (ASIP; A locus) in the absence of the EM and E alleles. This suggests that all three alleles are putative reduced-function variants of the MC1R gene. We propose the revised and updated E locus dominance hierarchy to be EM > E > eA/eH/eG > e1–3.
英国可卡犬的毛色表型为 "黑貂色"。它与其他犬类的毛色模式非常相似,这些模式被称为多米诺/细毛/绒毛(eA 等位基因)和细毛/多米诺(eG 等位基因),由黑色素皮质素 1 受体基因(MC1R;"扩展 "或 E 基因座)中的变异决定,而黑色素皮质素 1 受体基因是毛色的一个关键多等位基因调控因子。我们研究了 MC1R 的遗传变异,发现了一个新的非同义变异,即 c.250G>A(p.(Asp84Asn)),它与英国可卡犬的 "黑貂 "表型一致。我们建议将这一新发现的等位基因称为 eH,并进一步表明,在没有 EM 和 E 等位基因的情况下,eA、eH 和 eG(以前称为 EG)等位基因与影响受 beta-defensin 103 基因(CBD103;K 基因座)和 agouti 信号蛋白基因(ASIP;A 基因座)调控的基因型的狗的相似表型相关。这表明这三个等位基因都是 MC1R 基因的功能减弱变体。我们提出修订和更新后的 E 基因座优势等级为 EM > E > eA /eH /eG > e1-3 。
{"title":"Canine coat color E locus updates: Identification of a new MC1R variant causing ‘sable’ coat color in English Cocker Spaniels and a proposed update to the E locus dominance hierarchy","authors":"Leena Honkanen, Robert Loechel, Stephen Davison, Jonas Donner, Heidi Anderson","doi":"10.1111/age.13398","DOIUrl":"10.1111/age.13398","url":null,"abstract":"<p>The coat color phenotype ‘sable’ occurs in the English Cocker Spaniel dog breed. It closely resembles other canine color patterns known as domino/grizzle/pied (<i>e</i><sup><i>A</i></sup> allele) and grizzle/domino (<i>e</i><sup><i>G</i></sup> allele) determined by variants in the <i>melanocortin 1 receptor</i> gene (<i>MC1R</i>; ‘extension’ or E locus), a key multi-allele regulator of coat color. We examined genetic variation in <i>MC1R</i>, and found one new non-synonymous variant, c.250G>A (p.(Asp84Asn)), consistently associated with the English Cocker Spaniel ‘sable’ phenotype. We propose calling this newly identified allele <i>e</i><sup><i>H</i></sup> and further show that the <i>e</i><sup><i>A</i></sup>, <i>e</i><sup><i>H</i></sup> and <i>e</i><sup><i>G</i></sup> (previously known as <i>E</i><sup><i>G</i></sup>) alleles associate with similar phenotypes in dogs impacting genotypes regulated by <i>beta-defensin 103</i> gene (<i>CBD103</i>; K locus) and <i>agouti signaling protein</i> gene (<i>ASIP</i>; <i>A locus</i>) in the absence of the <i>E</i><sup><i>M</i></sup> and E alleles. This suggests that all three alleles are putative reduced-function variants of the <i>MC1R</i> gene. We propose the revised and updated E locus dominance hierarchy to be <i>E</i><sup><i>M</i></sup> > <i>E</i> > <i>e</i><sup><i>A</i></sup>/<i>e</i><sup><i>H</i></sup>/<i>e</i><sup><i>G</i></sup> > <i>e</i><sup>1–3</sup>.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13398","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139568868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Polydactyly is a genetic abnormality that affects both pig welfare and industry profits. Despite efforts to explore the genetic basis of pig polydactyly, progress remains limited. In this study, we analyzed a group of Large White pigs with postaxial polydactyly, including 29 cases and 79 controls from 24 families. High-depth sequencing was performed on 20 pigs, while low-depth sequencing was improved through imputation for the remaining pigs. A genome-wide association study (GWAS) and genetic differentiation were conducted using the resequencing dataset, resulting in the identification of 48 significantly associated SNPs and 27 candidate regions. The genetic differentiation regions on chromosomes 5 and 18, which harbored GWAS-identified SNPs, were delineated as confidence regions. The confidence region at Chr18: 1.850–1.925 Mb covers the fifth intron of LMBR1, a gene that contains an important regulatory element for SHH, known as ZRS. Mutations in this ZRS have been found to cause polydactyly in animals and humans. Therefore, we propose LMBR1 as a prospective candidate gene for postaxial polydactyly. These findings emphasize the importance of exploring the role of ZRS within LMBR1 in the pathogenesis of polydactyly in pigs.
{"title":"Whole genome resequencing reveals candidate genes for postaxial polydactyly in Large White pigs","authors":"Yongle Hao, Yunlei Song, Fei Chen, Jianhong Tang","doi":"10.1111/age.13399","DOIUrl":"10.1111/age.13399","url":null,"abstract":"<p>Polydactyly is a genetic abnormality that affects both pig welfare and industry profits. Despite efforts to explore the genetic basis of pig polydactyly, progress remains limited. In this study, we analyzed a group of Large White pigs with postaxial polydactyly, including 29 cases and 79 controls from 24 families. High-depth sequencing was performed on 20 pigs, while low-depth sequencing was improved through imputation for the remaining pigs. A genome-wide association study (GWAS) and genetic differentiation were conducted using the resequencing dataset, resulting in the identification of 48 significantly associated SNPs and 27 candidate regions. The genetic differentiation regions on chromosomes 5 and 18, which harbored GWAS-identified SNPs, were delineated as confidence regions. The confidence region at Chr18: 1.850–1.925 Mb covers the fifth intron of <i>LMBR1</i>, a gene that contains an important regulatory element for <i>SHH</i>, known as ZRS. Mutations in this ZRS have been found to cause polydactyly in animals and humans. Therefore, we propose <i>LMBR1</i> as a prospective candidate gene for postaxial polydactyly. These findings emphasize the importance of exploring the role of ZRS within <i>LMBR1</i> in the pathogenesis of polydactyly in pigs.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139568956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. A. Rafat, M. Barbato, R. Hajializadeh Valilou, G. H. Moghaddam, A. Nematollahi, K. Periasamy, R. Pichler, P. Ajmone Marsan
We investigated the association between 157 SNPs located in 75 candidate genes involved in the immune system and proxy traits for resistance to gastrointestinal nematodes in sheep. A total of 211 lambs from eight flocks were sampled. Nematode eggs per gram were counted and classified as: (i) Strongyles, (ii) Nematodirus spp., (iii) Trichuris spp. and (iv) Marshallagia marshalli. Single- and multiple-locus models were used to test the marker–trait associations. Seven significant SNPs were identified on chromosomes OAR6, 15, 16, and 19. These findings provide insights for breeding nemarode-resistant traits in low-input production systems. General linear model, fixed and random model circulating probability unification, and Bayesian-information and linkage-disequilibrium iteratively nested keyway analyses identified a significant association between the eggs per gram of Strongyles nematodes and a specific variant of the PRLR gene.
{"title":"Identification of genomic regions associated with resistance to gastrointestinal parasites in an indigenous sheep by single- and multiple-locus methods","authors":"S. A. Rafat, M. Barbato, R. Hajializadeh Valilou, G. H. Moghaddam, A. Nematollahi, K. Periasamy, R. Pichler, P. Ajmone Marsan","doi":"10.1111/age.13392","DOIUrl":"10.1111/age.13392","url":null,"abstract":"<p>We investigated the association between 157 SNPs located in 75 candidate genes involved in the immune system and proxy traits for resistance to gastrointestinal nematodes in sheep. A total of 211 lambs from eight flocks were sampled. Nematode eggs per gram were counted and classified as: (i) Strongyles, (ii) <i>Nematodirus</i> spp., (iii) <i>Trichuris</i> spp. and (iv) <i>Marshallagia marshalli</i>. Single- and multiple-locus models were used to test the marker–trait associations. Seven significant SNPs were identified on chromosomes OAR6, 15, 16, and 19. These findings provide insights for breeding nemarode-resistant traits in low-input production systems. General linear model, fixed and random model circulating probability unification, and Bayesian-information and linkage-disequilibrium iteratively nested keyway analyses identified a significant association between the eggs per gram of Strongyles nematodes and a specific variant of the <i>PRLR</i> gene.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":null,"pages":null},"PeriodicalIF":2.4,"publicationDate":"2024-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139416151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}