Xiaoran Lin, Mo Feng, Ying Li, Yu Liu, Min Wang, Yuanyuan Li, Tao Yang, Chunjiang Zhao
The Baise horse, an indigenous horse breed mainly distributed in the Baise region of Guangxi province in southwest China, has a long history as draft animal. However, there is a lack of research regarding the origin and ancestral composition of the Baise horse. In this study, whole-genome resequencing data from 236 horses of seven Chinese indigenous horse breeds, five foreign horse breeds, and four Przewalski's horses were used to investigate the relationships between the Baise horse and other horse breeds. The results showed that foreign horse breeds had no significant impact on the formation of the Baise horse. The two southwestern horse populations, the Debao pony and the Jinjiang horse, exhibit the closest genetic affinity with the Baise horse. This is consistent with their adjacent geographical distribution. Analysis of the migration route revealed a gene flow from the Chakouyi horse into the Baise horse. In summary, our results confirm that the formation of the Baise horse did not involve participation from foreign breeds. Geographical distance emerges as a crucial factor in determining the genetic relationships with the Baise horse. Gene flows of indigenous horse breeds along ancient routes of trade activities had played a role in the formation of the Baise horse.
{"title":"Study on the origin of the Baise horse based on whole-genome resequencing","authors":"Xiaoran Lin, Mo Feng, Ying Li, Yu Liu, Min Wang, Yuanyuan Li, Tao Yang, Chunjiang Zhao","doi":"10.1111/age.13424","DOIUrl":"10.1111/age.13424","url":null,"abstract":"<p>The Baise horse, an indigenous horse breed mainly distributed in the Baise region of Guangxi province in southwest China, has a long history as draft animal. However, there is a lack of research regarding the origin and ancestral composition of the Baise horse. In this study, whole-genome resequencing data from 236 horses of seven Chinese indigenous horse breeds, five foreign horse breeds, and four Przewalski's horses were used to investigate the relationships between the Baise horse and other horse breeds. The results showed that foreign horse breeds had no significant impact on the formation of the Baise horse. The two southwestern horse populations, the Debao pony and the Jinjiang horse, exhibit the closest genetic affinity with the Baise horse. This is consistent with their adjacent geographical distribution. Analysis of the migration route revealed a gene flow from the Chakouyi horse into the Baise horse. In summary, our results confirm that the formation of the Baise horse did not involve participation from foreign breeds. Geographical distance emerges as a crucial factor in determining the genetic relationships with the Baise horse. Gene flows of indigenous horse breeds along ancient routes of trade activities had played a role in the formation of the Baise horse.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 3","pages":"410-419"},"PeriodicalIF":2.4,"publicationDate":"2024-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580605","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}
Lei Xu, Yunyun Zhang, Yang Guo, Qiuming Chen, Menghua Zhang, Hong Chen, Juan Geng, Xixia Huang
The Kazakh cattle in the Xinjiang Uygur Autonomous Region of China are highly adaptable and have multiple uses, including milk and meat production, and use as draft animals. They are an excellent original breed that could be enhanced by breeding and hybrid improvement. However, the genomic diversity and signature of selection underlying the germplasm characteristics require further elucidation. Herein, we evaluated 26 Kazakh cattle genomes in comparison with 103 genomes of seven other cattle breeds from regions around the world to assess the Kazakh cattle genetic variability. We revealed that the relatively low linkage disequilibrium at large SNP distances was strongly correlated with the largest effective population size among Kazakh cattle. Using population structural analysis, we next demonstrated a taurine lineage with restricted Bos indicus introgression among Kazakh cattle. Notably, we identified putative selected genes associated with resistance to disease and body size within Kazakh cattle. Together, our findings shed light on the evolutionary history and breeding profile of Kazakh cattle, as well as offering indispensable resources for germplasm resource conservation and crossbreeding program implementation.
{"title":"Whole-genome resequencing uncovers diversity and selective sweep in Kazakh cattle","authors":"Lei Xu, Yunyun Zhang, Yang Guo, Qiuming Chen, Menghua Zhang, Hong Chen, Juan Geng, Xixia Huang","doi":"10.1111/age.13425","DOIUrl":"10.1111/age.13425","url":null,"abstract":"<p>The Kazakh cattle in the Xinjiang Uygur Autonomous Region of China are highly adaptable and have multiple uses, including milk and meat production, and use as draft animals. They are an excellent original breed that could be enhanced by breeding and hybrid improvement. However, the genomic diversity and signature of selection underlying the germplasm characteristics require further elucidation. Herein, we evaluated 26 Kazakh cattle genomes in comparison with 103 genomes of seven other cattle breeds from regions around the world to assess the Kazakh cattle genetic variability. We revealed that the relatively low linkage disequilibrium at large SNP distances was strongly correlated with the largest effective population size among Kazakh cattle. Using population structural analysis, we next demonstrated a taurine lineage with restricted <i>Bos indicus</i> introgression among Kazakh cattle. Notably, we identified putative selected genes associated with resistance to disease and body size within Kazakh cattle. Together, our findings shed light on the evolutionary history and breeding profile of Kazakh cattle, as well as offering indispensable resources for germplasm resource conservation and crossbreeding program implementation.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 3","pages":"377-386"},"PeriodicalIF":2.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140334451","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}
Sarah Kiener, Susanne Åhman, Robert Cikota, Vidhya Jagannathan, Sohvi Blatter, Iva Cvitas, Sara Soto, Tosso Leeb
<p>Ichthyoses comprise a large, heterogeneous group of inherited cornification disorders. They are characterized by generalized scaly and hyperkeratotic skin (Oji et al., <span>2010</span>). In humans, over 69 genes have been associated with different forms of ichthyosis, grouped into non-syndromic ichthyoses with the phenotypic expression of the disorder only seen in the skin, and syndromic ichthyoses that show additional organ involvement (Gutiérrez-Cerrajero et al., <span>2023</span>; Uitto et al., <span>2020</span>). Further subdivision into epidermolytic and non-epidermolytic ichthyoses is based on the presence or absence of light microscopic findings of vacuoles and lysis of keratinocytes (Mauldin, <span>2013</span>). In dogs, several breed-specific ichthyoses have been described, and, to date, causal variants in nine different genes have been identified (Affolter et al., <span>2022</span>; Bauer et al., <span>2017</span>; Briand et al., <span>2019</span>; Casal et al., <span>2017</span>; Credille et al., <span>2005</span>, <span>2009</span>; Grall et al., <span>2012</span>; Kiener et al., <span>2022</span>; Kiener, Åhman, et al., <span>2023</span>; Kiener, Castilla, et al., <span>2023</span>; Metzger et al., <span>2015</span>). These genes are mainly involved in the biosynthesis, metabolism, and transport of lipids required for skin barrier function or the intracellular protein network responsible for the integrity of skin structure (Gutiérrez-Cerrajero et al., <span>2023</span>).</p><p>A 6-month-old Pembroke Welsh Corgi was presented with non-pruritic severe scaling (large 5–10-mm scales; Figure 1a), hyperkeratotic paw pads (Figure 1b), and fish-skin like flakes and erythema in friction areas (Figure 1c), present since shortly after birth. Histological examination of biopsies taken from haired skin and paw pads showed prominent compact to lamellar orthokeratotic hyperkeratosis (Figure 1d). The observed changes were compatible with non-epidermolytic ichthyosis.</p><p>We performed Illumina short-read whole-genome sequencing at 26× coverage on genomic DNA isolated from leukocytes to investigate potential causal genetic variants. The data were processed as previously described (Jagannathan et al., <span>2019</span>) with respect to the genome reference assembly UU_Cfam_GSD_1.0. Subsequent comparison of the whole-genome sequencing data of the affected dog to 960 genetically diverse canine genomes (Table S1) revealed 76 heterozygous and eight homozygous protein-changing private variants (Table S2). Among them was a heterozygous two base-pair deletion variant in the ichthyosis candidate gene <i>ASPRV1</i>, XM_038551592.1:c.594_595del or Chr10:NC_049231.1:69888722_69888723del, leading to a frameshift and altering 48% of the wildtype protein sequence, XP_038407520.1:p.(Leu199Argfs*342). The predicted mutant protein contains 539 compared to 381 amino acids in the wildtype protein. <i>ASPRV1</i> encodes the retroviral-like aspartic protease 1, which
{"title":"Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis","authors":"Sarah Kiener, Susanne Åhman, Robert Cikota, Vidhya Jagannathan, Sohvi Blatter, Iva Cvitas, Sara Soto, Tosso Leeb","doi":"10.1111/age.13423","DOIUrl":"10.1111/age.13423","url":null,"abstract":"<p>Ichthyoses comprise a large, heterogeneous group of inherited cornification disorders. They are characterized by generalized scaly and hyperkeratotic skin (Oji et al., <span>2010</span>). In humans, over 69 genes have been associated with different forms of ichthyosis, grouped into non-syndromic ichthyoses with the phenotypic expression of the disorder only seen in the skin, and syndromic ichthyoses that show additional organ involvement (Gutiérrez-Cerrajero et al., <span>2023</span>; Uitto et al., <span>2020</span>). Further subdivision into epidermolytic and non-epidermolytic ichthyoses is based on the presence or absence of light microscopic findings of vacuoles and lysis of keratinocytes (Mauldin, <span>2013</span>). In dogs, several breed-specific ichthyoses have been described, and, to date, causal variants in nine different genes have been identified (Affolter et al., <span>2022</span>; Bauer et al., <span>2017</span>; Briand et al., <span>2019</span>; Casal et al., <span>2017</span>; Credille et al., <span>2005</span>, <span>2009</span>; Grall et al., <span>2012</span>; Kiener et al., <span>2022</span>; Kiener, Åhman, et al., <span>2023</span>; Kiener, Castilla, et al., <span>2023</span>; Metzger et al., <span>2015</span>). These genes are mainly involved in the biosynthesis, metabolism, and transport of lipids required for skin barrier function or the intracellular protein network responsible for the integrity of skin structure (Gutiérrez-Cerrajero et al., <span>2023</span>).</p><p>A 6-month-old Pembroke Welsh Corgi was presented with non-pruritic severe scaling (large 5–10-mm scales; Figure 1a), hyperkeratotic paw pads (Figure 1b), and fish-skin like flakes and erythema in friction areas (Figure 1c), present since shortly after birth. Histological examination of biopsies taken from haired skin and paw pads showed prominent compact to lamellar orthokeratotic hyperkeratosis (Figure 1d). The observed changes were compatible with non-epidermolytic ichthyosis.</p><p>We performed Illumina short-read whole-genome sequencing at 26× coverage on genomic DNA isolated from leukocytes to investigate potential causal genetic variants. The data were processed as previously described (Jagannathan et al., <span>2019</span>) with respect to the genome reference assembly UU_Cfam_GSD_1.0. Subsequent comparison of the whole-genome sequencing data of the affected dog to 960 genetically diverse canine genomes (Table S1) revealed 76 heterozygous and eight homozygous protein-changing private variants (Table S2). Among them was a heterozygous two base-pair deletion variant in the ichthyosis candidate gene <i>ASPRV1</i>, XM_038551592.1:c.594_595del or Chr10:NC_049231.1:69888722_69888723del, leading to a frameshift and altering 48% of the wildtype protein sequence, XP_038407520.1:p.(Leu199Argfs*342). The predicted mutant protein contains 539 compared to 381 amino acids in the wildtype protein. <i>ASPRV1</i> encodes the retroviral-like aspartic protease 1, which","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 3","pages":"490-492"},"PeriodicalIF":2.4,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13423","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140317717","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}
Annik Gmel, Anne Ricard, Vinzenz Gerber, Markus Neuditschko
The breeding history of the Einsiedler horse is closely connected with the Benedictine cloister Einsiedeln. In the mid-nineteenth century, it was decided to use European Warmblood stallions for cross-breeding and to abandon the selection of stallions. Since that time, it has only been possible to trace back the origin of Einsiedler horses using maternal ancestry information. Here, we collected high-density genotype data for European Warmblood horses (Selle Français, Swiss Warmblood and Einsiedler) and Franches-Montagnes horses, the last native Swiss horse breed, to unravel the current population structure of the Einsiedler horse. Using commonly applied methods to ascertain fine-scale population structures, it was not possible to clearly differentiate the Einsiedler from other European Warmblood horses. However, by means of runs of homozygosity (ROH) we were able to detect breed-specific ROH islands for the Einsiedler horse, including genes involved in domestication and adaptation to high altitude. Therefore, future breeding activities should involve the screening of these breed-specific ROH segments, the revival of cryopreserved sperm and the selection of Einsiedler stallions.
{"title":"Population structure and genomic diversity of the Einsiedler horse","authors":"Annik Gmel, Anne Ricard, Vinzenz Gerber, Markus Neuditschko","doi":"10.1111/age.13421","DOIUrl":"10.1111/age.13421","url":null,"abstract":"<p>The breeding history of the Einsiedler horse is closely connected with the Benedictine cloister Einsiedeln. In the mid-nineteenth century, it was decided to use European Warmblood stallions for cross-breeding and to abandon the selection of stallions. Since that time, it has only been possible to trace back the origin of Einsiedler horses using maternal ancestry information. Here, we collected high-density genotype data for European Warmblood horses (Selle Français, Swiss Warmblood and Einsiedler) and Franches-Montagnes horses, the last native Swiss horse breed, to unravel the current population structure of the Einsiedler horse. Using commonly applied methods to ascertain fine-scale population structures, it was not possible to clearly differentiate the Einsiedler from other European Warmblood horses. However, by means of runs of homozygosity (ROH) we were able to detect breed-specific ROH islands for the Einsiedler horse, including genes involved in domestication and adaptation to high altitude. Therefore, future breeding activities should involve the screening of these breed-specific ROH segments, the revival of cryopreserved sperm and the selection of Einsiedler stallions.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 3","pages":"475-479"},"PeriodicalIF":2.4,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13421","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140193140","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}
Yuwei Huang, Aiying Cao, Beiyuan Zhang, Sen Li, Chuan He, Jian Gao, Xiaojuan Cao
China was the first country in the world to breed goldfish and has generated many unique goldfish varieties, including the most aristocratic Chinese palace goldfish. Due to the lack of scientific research on Chinese palace goldfish, their selection and breeding are mainly carried out through traditional hybridization, leading to serious inbreeding and the degradation of germplasm resources. To this end, whole-genome resequencing was performed to understand the genetic variation among three different varieties (eggpompons, goosehead, and tigerhead) from nine core conserved populations in China. A total of 15 polymorphic SSRs were developed for population genetics, and all tested populations were considered moderately polymorphic with an average polymorphism information content value of 0.4943. Genetic diversity in different varieties showed that all conserved populations were well protected with the potential for continued exploitation. This study provides reliable molecular tools and a basis for designing conservation and management programs in Chinese palace goldfish.
{"title":"Identification of polymorphic markers for germplasm conservation of three precious Chinese palace goldfish using whole-genome sequencing","authors":"Yuwei Huang, Aiying Cao, Beiyuan Zhang, Sen Li, Chuan He, Jian Gao, Xiaojuan Cao","doi":"10.1111/age.13419","DOIUrl":"10.1111/age.13419","url":null,"abstract":"<p>China was the first country in the world to breed goldfish and has generated many unique goldfish varieties, including the most aristocratic Chinese palace goldfish. Due to the lack of scientific research on Chinese palace goldfish, their selection and breeding are mainly carried out through traditional hybridization, leading to serious inbreeding and the degradation of germplasm resources. To this end, whole-genome resequencing was performed to understand the genetic variation among three different varieties (eggpompons, goosehead, and tigerhead) from nine core conserved populations in China. A total of 15 polymorphic SSRs were developed for population genetics, and all tested populations were considered moderately polymorphic with an average polymorphism information content value of 0.4943. Genetic diversity in different varieties showed that all conserved populations were well protected with the potential for continued exploitation. This study provides reliable molecular tools and a basis for designing conservation and management programs in Chinese palace goldfish.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 3","pages":"484-489"},"PeriodicalIF":2.4,"publicationDate":"2024-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140157410","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}
Qaidam cattle are a typical Chinese native breed inhabiting northwest China. They bear the characteristics of high cold and roughage tolerance, low-oxygen adaptability and good meat quality. To analyze the genetic diversity of Qaidam cattle, 60 samples were sequenced using whole-genome resequencing technology, along with 192 published sets of whole-genome sequencing data of Indian indicine cattle, Chinese indicine cattle, North Chinese cattle breeds, East Asian taurine cattle, Eurasian taurine cattle and European taurine cattle as controls. It was found that Qaidam cattle have rich genetic diversity in Bos taurus, but the degree of inbreeding is also high, which needs further protection. The phylogenetic analysis, principal component analysis and ancestral component analysis showed that Qaidam cattle mainly originated from East Asian taurine cattle. Qaidam cattle had a closer genetic relationship with the North Chinese cattle breeds and the least differentiation from Mongolian cattle. Annotating the selection signals obtained by composite likelihood ratio, nucleotide diversity analysis, integrated haplotype score, genetic differentiation index, genetic diversity ratio and cross-population extended haplotype homozygosity methods, several genes associated with immunity, reproduction, meat, milk, growth and adaptation showed strong selection signals. In general, this study provides genetic evidence for understanding the germplasm characteristics of Qaidam cattle. At the same time, it lays a foundation for the scientific and reasonable protection and utilization of genetic resources of Chinese local cattle breeds, which has great theoretical and practical significance.
{"title":"Unraveling genomic diversity and positive selection signatures of Qaidam cattle through whole-genome re-sequencing","authors":"Xudong Wei, Shuang Li, Huixuan Yan, Shengmei Chen, Ruizhe Li, Weizhong Zhang, Shengyu Chao, Weixing Guo, Wenhao Li, Zulfiqar Ahmed, Chuzhao Lei, Zhijie Ma","doi":"10.1111/age.13417","DOIUrl":"10.1111/age.13417","url":null,"abstract":"<p>Qaidam cattle are a typical Chinese native breed inhabiting northwest China. They bear the characteristics of high cold and roughage tolerance, low-oxygen adaptability and good meat quality. To analyze the genetic diversity of Qaidam cattle, 60 samples were sequenced using whole-genome resequencing technology, along with 192 published sets of whole-genome sequencing data of Indian indicine cattle, Chinese indicine cattle, North Chinese cattle breeds, East Asian taurine cattle, Eurasian taurine cattle and European taurine cattle as controls. It was found that Qaidam cattle have rich genetic diversity in <i>Bos taurus</i>, but the degree of inbreeding is also high, which needs further protection. The phylogenetic analysis, principal component analysis and ancestral component analysis showed that Qaidam cattle mainly originated from East Asian taurine cattle. Qaidam cattle had a closer genetic relationship with the North Chinese cattle breeds and the least differentiation from Mongolian cattle. Annotating the selection signals obtained by composite likelihood ratio, nucleotide diversity analysis, integrated haplotype score, genetic differentiation index, genetic diversity ratio and cross-population extended haplotype homozygosity methods, several genes associated with immunity, reproduction, meat, milk, growth and adaptation showed strong selection signals. In general, this study provides genetic evidence for understanding the germplasm characteristics of Qaidam cattle. At the same time, it lays a foundation for the scientific and reasonable protection and utilization of genetic resources of Chinese local cattle breeds, which has great theoretical and practical significance.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 3","pages":"362-376"},"PeriodicalIF":2.4,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140118587","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 Lyu, Tingting Yao, Zhefu Chen, Ruiyao Huangfu, Haijian Cheng, Weidong Ma, Xingshan Qi, Fuqiang Li, Ningbo Chen, Chuzhao Lei
Local species exhibit distinctive indigenous characteristics while showing unique productive and phenotypic traits. However, the advent of commercialization has posed a substantial threat to the survival of indigenous species. Anxi cattle, an endangered native breed in China, have evolved unique growth and reproductive characteristics in extreme desert and semidesert ecosystems. In this study, we conducted a genomic comparison of 10 Anxi cattle genomes with those of five other global populations/breeds to assess genetic diversity and identify candidate genomic regions in Anxi cattle. Population structure and genetic diversity analyses revealed that Anxi cattle are part of the East Asian cattle clade, exhibiting higher genetic diversity than commercial breeds. Through selective sweep analysis, we identified specific genetic variations linked to the environmental adaptability of Anxi cattle. Notably, we identified several candidate genes, including CERS3 involved in regulating skin permeability and antimicrobial functions, RBFOX2 associated with cardiac development, SLC16A7 participated in the regulation of pancreatic endocrine function, and SPATA3 related to reproduction. Our findings revealed the distinctive genomic features of Anxi cattle in dryland environments, provided invaluable insights for further research and breed preservation, and had important significance for enriching the domestic cattle breeding gene bank.
{"title":"Genomic characterization of dryland adaptation in endangered Anxi cattle in China","authors":"Yang Lyu, Tingting Yao, Zhefu Chen, Ruiyao Huangfu, Haijian Cheng, Weidong Ma, Xingshan Qi, Fuqiang Li, Ningbo Chen, Chuzhao Lei","doi":"10.1111/age.13416","DOIUrl":"10.1111/age.13416","url":null,"abstract":"<p>Local species exhibit distinctive indigenous characteristics while showing unique productive and phenotypic traits. However, the advent of commercialization has posed a substantial threat to the survival of indigenous species. Anxi cattle, an endangered native breed in China, have evolved unique growth and reproductive characteristics in extreme desert and semidesert ecosystems. In this study, we conducted a genomic comparison of 10 Anxi cattle genomes with those of five other global populations/breeds to assess genetic diversity and identify candidate genomic regions in Anxi cattle. Population structure and genetic diversity analyses revealed that Anxi cattle are part of the East Asian cattle clade, exhibiting higher genetic diversity than commercial breeds. Through selective sweep analysis, we identified specific genetic variations linked to the environmental adaptability of Anxi cattle. Notably, we identified several candidate genes, including <i>CERS3</i> involved in regulating skin permeability and antimicrobial functions, <i>RBFOX2</i> associated with cardiac development, <i>SLC16A7</i> participated in the regulation of pancreatic endocrine function, and <i>SPATA3</i> related to reproduction. Our findings revealed the distinctive genomic features of Anxi cattle in dryland environments, provided invaluable insights for further research and breed preservation, and had important significance for enriching the domestic cattle breeding gene bank.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 3","pages":"352-361"},"PeriodicalIF":2.4,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140020811","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}
Rachel R. Reith, Jonathan E. Beever, Joe C. Paschal, Jason Banta, Brian F. Porter, David J. Steffen, Thomas B. Hairgrove, Jessica L. Petersen
Bovine familial convulsions and ataxia (BFCA) is considered an autosomal dominant syndrome with incomplete penetrance. Nine Angus calves from the same herd were diagnosed with BFCA within days of birth. Necropsy revealed cerebellar and spinal cord lesions associated with the condition. Parentage testing confirmed that all affected calves had a common sire. The sire was then bred to 36 cows across two herds using artificial insemination, producing an additional 14 affected calves. The objective of this investigation was to identify hypothesized dominant genetic variation underlying the condition. Whole-genome sequencing was performed on the sire, six affected and seven unaffected paternal half-sibling calves and combined with data from 135 unrelated controls. The sire and five of the six affected calves were heterozygous for a nonsense variant (Chr7 g.12367906C>T, c.5073C>T, p.Arg1681*) in CACNA1A. The other affected calves (N = 8) were heterozygous for the variant but it was absent in the other unaffected calves (N = 7) and parents of the sire. This variant was also absent in sequence data from over 6500 other cattle obtained via public repositories and collaborator projects. The variant in CACNA1A is expressed in the cerebellum of the ataxic calves as detected in the transcriptome and was not differentially expressed compared with controls. The CACNA1A protein is part of a highly expressed cerebellar calcium voltage gated channel. The nonsense variant is proposed to cause haploinsufficiency, preventing proper transmission of neuronal signals through the channel and resulting in BFCA.
{"title":"A de novo mutation in CACNA1A is associated with autosomal dominant bovine familial convulsions and ataxia in Angus cattle","authors":"Rachel R. Reith, Jonathan E. Beever, Joe C. Paschal, Jason Banta, Brian F. Porter, David J. Steffen, Thomas B. Hairgrove, Jessica L. Petersen","doi":"10.1111/age.13409","DOIUrl":"10.1111/age.13409","url":null,"abstract":"<p>Bovine familial convulsions and ataxia (BFCA) is considered an autosomal dominant syndrome with incomplete penetrance. Nine Angus calves from the same herd were diagnosed with BFCA within days of birth. Necropsy revealed cerebellar and spinal cord lesions associated with the condition. Parentage testing confirmed that all affected calves had a common sire. The sire was then bred to 36 cows across two herds using artificial insemination, producing an additional 14 affected calves. The objective of this investigation was to identify hypothesized dominant genetic variation underlying the condition. Whole-genome sequencing was performed on the sire, six affected and seven unaffected paternal half-sibling calves and combined with data from 135 unrelated controls. The sire and five of the six affected calves were heterozygous for a nonsense variant (Chr7 g.12367906C>T, c.5073C>T, p.Arg1681*) in <i>CACNA1A.</i> The other affected calves (<i>N</i> = 8) were heterozygous for the variant but it was absent in the other unaffected calves (<i>N</i> = 7) and parents of the sire. This variant was also absent in sequence data from over 6500 other cattle obtained via public repositories and collaborator projects. The variant in <i>CACNA1A</i> is expressed in the cerebellum of the ataxic calves as detected in the transcriptome and was not differentially expressed compared with controls. The CACNA1A protein is part of a highly expressed cerebellar calcium voltage gated channel. The nonsense variant is proposed to cause haploinsufficiency, preventing proper transmission of neuronal signals through the channel and resulting in BFCA.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 3","pages":"344-351"},"PeriodicalIF":2.4,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13409","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139995298","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}
Anabella Dinon, Franco Fiorani, Lucía María Campero, Dadín Prando Moore, Pablo Marcelo Corva
Neospora caninum is one of the most frequently diagnosed abortifacient pathogens in cattle. There is abundant genomic information about the parasite itself, but very little is known about the genetic variability of resistance in the most common intermediate host. The aim of this review was to compile all the available information about the genetic variability associated with the resistance to N. caninum both between and within cattle breeds. We systematically searched for published studies that investigated the influence of genetics of the host on the prevalence of N. caninum and risk of abortion. Beyond the potential confounding effects of feeding systems, management and animal density, some lines of evidence suggest that Holstein, the most popular breed for milk production, has a comparatively higher risk of abortion due to infections by N. caninum, whereas some beef breeds from Continental Europe seem to be more resistant. It is still not clear if different genetic mechanisms of resistance are involved in the two known routes of infection: postnatal ingestion of oocysts or transplacental transmission from the infected dam to the fetus. Genomic information associated with susceptibility to infection and risk of abortion in different cattle breeds is still scarce. The information reported here could be useful to identify new research alternatives and to define novel strategies to deal with this major problem of animal production.
犬新孢子虫(Neospora caninum)是最常见的牛流产病原体之一。有关寄生虫本身的基因组信息非常丰富,但对最常见的中间宿主的抗药性基因变异性却知之甚少。本综述旨在汇编牛种之间和牛种内部与抗性相关的遗传变异的所有可用信息。我们系统地搜索了已发表的研究报告,这些报告调查了宿主遗传对 N. caninum 感染率和流产风险的影响。除了饲养系统、管理和动物密度的潜在混杂影响外,一些证据表明,最受欢迎的产奶牛种荷斯坦因感染金黄色葡萄球菌而流产的风险相对较高,而欧洲大陆的一些肉牛品种似乎更具抵抗力。目前还不清楚两种已知的感染途径是否涉及不同的抗性遗传机制:产后摄入卵囊或受感染的母体经胎盘传播给胎儿。与不同牛种的感染易感性和流产风险有关的基因组信息仍然很少。本文报告的信息有助于确定新的研究方案,并制定新的策略来解决这一动物生产中的重大问题。
{"title":"The role of genetic variability of the host on the resistance to Neospora caninum infection in cattle","authors":"Anabella Dinon, Franco Fiorani, Lucía María Campero, Dadín Prando Moore, Pablo Marcelo Corva","doi":"10.1111/age.13410","DOIUrl":"10.1111/age.13410","url":null,"abstract":"<p><i>Neospora caninum</i> is one of the most frequently diagnosed abortifacient pathogens in cattle. There is abundant genomic information about the parasite itself, but very little is known about the genetic variability of resistance in the most common intermediate host. The aim of this review was to compile all the available information about the genetic variability associated with the resistance to <i>N. caninum</i> both between and within cattle breeds. We systematically searched for published studies that investigated the influence of genetics of the host on the prevalence of <i>N. caninum</i> and risk of abortion. Beyond the potential confounding effects of feeding systems, management and animal density, some lines of evidence suggest that Holstein, the most popular breed for milk production, has a comparatively higher risk of abortion due to infections by <i>N. caninum</i>, whereas some beef breeds from Continental Europe seem to be more resistant. It is still not clear if different genetic mechanisms of resistance are involved in the two known routes of infection: postnatal ingestion of oocysts or transplacental transmission from the infected dam to the fetus. Genomic information associated with susceptibility to infection and risk of abortion in different cattle breeds is still scarce. The information reported here could be useful to identify new research alternatives and to define novel strategies to deal with this major problem of animal production.</p>","PeriodicalId":7905,"journal":{"name":"Animal genetics","volume":"55 3","pages":"304-318"},"PeriodicalIF":2.4,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/age.13410","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139989128","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}