Letícia Fernanda de Oliveira, Renata Veroneze, Lorena Ferreira Benfica, André Campelo Araujo, Yijian Huang, Jay S. Johnson, Luiz F. Brito
Indicators of heat stress response are heritable complex traits with polygenic inheritance. Copy number variations (CNV) are important genomic structural variations that may be linked to climatic adaptation by influencing the phenotypic variability of traits related to thermal stress and disease resistance in animals. Therefore, the primary objectives of this study were to detect CNV and CNV regions (CNVR) in pigs and explore their associations with physiological and anatomical indicators of HS response in lactating sows. A total of 4184 autosomal genome CNV (4012 deletions and 172 duplications) were detected in 969 animals. CNVR were identified by merging CNV with at least 1-bp overlap, which enabled the identification of 236 autosomal CNVR. The association analyses led to the identification of three CNVR significantly associated with ear skin temperature and one CNVR significantly associated with vaginal temperature considering all records, vaginal temperature measured at 8:00 h, and hair density. Eleven genes harboured the CNVR with significant associations. In summary, various CNV and CNVR were identified in crossbred maternal-line pigs, including CNVR significantly associated with physiological and anatomical heat stress response indicators in lactating sows. Candidate genes involved in immune and stress responses overlapped with the significant CNVR, suggesting that they may contribute to climatic resilience in pigs. The findings of this study contribute to better understanding the genetic background of heat stress response in lactating sows.
{"title":"Genome-Wide Detection of Copy Number Variation and Association Studies With Physiological and Anatomical Indicators of Heat Stress Response in Lactating Sows","authors":"Letícia Fernanda de Oliveira, Renata Veroneze, Lorena Ferreira Benfica, André Campelo Araujo, Yijian Huang, Jay S. Johnson, Luiz F. Brito","doi":"10.1111/jbg.70009","DOIUrl":"10.1111/jbg.70009","url":null,"abstract":"<p>Indicators of heat stress response are heritable complex traits with polygenic inheritance. Copy number variations (CNV) are important genomic structural variations that may be linked to climatic adaptation by influencing the phenotypic variability of traits related to thermal stress and disease resistance in animals. Therefore, the primary objectives of this study were to detect CNV and CNV regions (CNVR) in pigs and explore their associations with physiological and anatomical indicators of HS response in lactating sows. A total of 4184 autosomal genome CNV (4012 deletions and 172 duplications) were detected in 969 animals. CNVR were identified by merging CNV with at least 1-bp overlap, which enabled the identification of 236 autosomal CNVR. The association analyses led to the identification of three CNVR significantly associated with ear skin temperature and one CNVR significantly associated with vaginal temperature considering all records, vaginal temperature measured at 8:00 h, and hair density. Eleven genes harboured the CNVR with significant associations. In summary, various CNV and CNVR were identified in crossbred maternal-line pigs, including CNVR significantly associated with physiological and anatomical heat stress response indicators in lactating sows. Candidate genes involved in immune and stress responses overlapped with the significant CNVR, suggesting that they may contribute to climatic resilience in pigs. The findings of this study contribute to better understanding the genetic background of heat stress response in lactating sows.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":"143 1","pages":"183-192"},"PeriodicalIF":1.9,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jbg.70009","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144823262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marisol Londoño-Gil, Jorge Hidalgo, Andres Legarra, Claudio U. Magnabosco, Fernando Baldi, Daniela Lourenco
Indirect predictions (IP) are used for young genotyped animals that lack phenotypes (of their own or from progeny) or are from commercial herds. The former can be left behind because they do not contribute to the official genomic evaluations. The latter are often excluded from the evaluations because they are not registered and may not have pedigree information. Including such animals could result in inflated and biased genomic breeding values (GEBV). In Brazil, pedigree, phenotype and genotype information is scarce for important breeds like Brahman, Guzerat, and Tabapua, while the Nellore breed has a substantial amount of information. IP for young animals of these breeds based on a larger reference population could enhance genomic selection accuracy. Our objective in this study was to compute IP for young genotyped Nellore, Brahman, Guzerat, and Tabapua animals using single- and multi-breed analyses, with or without metafounders (MF) to model genetic differences across breeds. Records from the four breeding programs of the National Association of Breeders and Researchers (ANCP—Ribeirão Preto, SP, Brazil) were used. Data included pedigree (4.2 M), phenotypes (329 K), and genotypes (63.5 K) across all breeds. The number of genotyped animals within each breed was 58,574 for Nellore, 3102 for Brahman, 1389 for Guzerat, and 427 for Tabapua. The analysed traits were adjusted weight at 210 (W210) and 450 (W450) days of age and the scrotal circumference at 365 (SC365) days of age. IP were derived as the sum of the SNP effects weighted by the gene content using different reference populations: multi-breed with or without MF, Nellore, or within-breed. Scenarios were compared using the linear regression (LR) method for bias, dispersion, and accuracy. Adding MF decreased bias and under- or overdispersion and slightly increased the accuracy of IP. Combining breeds increased the accuracy of IP, mainly benefiting breeds with a small number of genotypes. These findings suggest that when young genotyped animals are not included in an official multi-breed evaluation in zebuine cattle from Brazil, robust IP can be obtained with proper modelling, regardless of the breed. This helps obtain fast genomic predictions for young animals without overwhelming the evaluation system with too many animals.
{"title":"Indirect Genomic Predictions for Indicine Cattle Breeds With SNP Effects From a Multi-Breed Genomic Evaluation","authors":"Marisol Londoño-Gil, Jorge Hidalgo, Andres Legarra, Claudio U. Magnabosco, Fernando Baldi, Daniela Lourenco","doi":"10.1111/jbg.70008","DOIUrl":"10.1111/jbg.70008","url":null,"abstract":"<p>Indirect predictions (IP) are used for young genotyped animals that lack phenotypes (of their own or from progeny) or are from commercial herds. The former can be left behind because they do not contribute to the official genomic evaluations. The latter are often excluded from the evaluations because they are not registered and may not have pedigree information. Including such animals could result in inflated and biased genomic breeding values (GEBV). In Brazil, pedigree, phenotype and genotype information is scarce for important breeds like Brahman, Guzerat, and Tabapua, while the Nellore breed has a substantial amount of information. IP for young animals of these breeds based on a larger reference population could enhance genomic selection accuracy. Our objective in this study was to compute IP for young genotyped Nellore, Brahman, Guzerat, and Tabapua animals using single- and multi-breed analyses, with or without metafounders (MF) to model genetic differences across breeds. Records from the four breeding programs of the National Association of Breeders and Researchers (ANCP—Ribeirão Preto, SP, Brazil) were used. Data included pedigree (4.2 M), phenotypes (329 K), and genotypes (63.5 K) across all breeds. The number of genotyped animals within each breed was 58,574 for Nellore, 3102 for Brahman, 1389 for Guzerat, and 427 for Tabapua. The analysed traits were adjusted weight at 210 (W210) and 450 (W450) days of age and the scrotal circumference at 365 (SC365) days of age. IP were derived as the sum of the SNP effects weighted by the gene content using different reference populations: multi-breed with or without MF, Nellore, or within-breed. Scenarios were compared using the linear regression (LR) method for bias, dispersion, and accuracy. Adding MF decreased bias and under- or overdispersion and slightly increased the accuracy of IP. Combining breeds increased the accuracy of IP, mainly benefiting breeds with a small number of genotypes. These findings suggest that when young genotyped animals are not included in an official multi-breed evaluation in zebuine cattle from Brazil, robust IP can be obtained with proper modelling, regardless of the breed. This helps obtain fast genomic predictions for young animals without overwhelming the evaluation system with too many animals.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":"143 1","pages":"172-182"},"PeriodicalIF":1.9,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jbg.70008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sang Van Le, Panoraia Alexandri, Julius H.J. van der Werf, Luisa Olmo, Stephen W. Walkden-Brown, Sara de Las Heras-Saldana
Detecting selection footprints offers valuable insight into evolutionary processes and the mechanisms underlying phenotypic diversity in selected traits. Domestication, natural and artificial selection, and breeding have produced indigenous goats well-adapted to their local environments, making them crucial genetic resources. Understanding the genetic foundation of these adaptations can guide the development of effective breeding strategies to preserve and improve local goat breeds. This study investigated selection signatures in Lao native goats using Illumina's Goat SNP50 BeadChip, analysing 420 Lao native goats, 87 goats from three Chinese breeds, and 51 Teddi goats from Pakistan as test populations. We applied the de-correlation composite multiple signals (DCMS) method, incorporating p values from nine statistical tests, including runs of homozygosity in the Lao goat population, and fixation index and cross-population extended haplotype homozygosity between Lao goats and test populations. Significant genomic regions were identified using a 0.05 threshold adjusted for multiple testing. Our results uncovered 24 genomic regions harbouring 68 unique-coding genes. Analysis revealed both annotated and novel candidate genes linked to a variety of characteristics, including adaptation to the tropical monsoon climate (e.g., ABHD6, GATA4 and MSRA) and economic traits like growth and status (e.g., CNTNAP5, FAM135B and GATA4), reproduction (e.g., NPHP3, ARSJ and GATA4), milk production (e.g., MRPL32, PRSS51 and EPHA7), and carcass characteristics (e.g., GNAI1, SOX7 and FAM135B). These results offered insightful information about genetic mechanisms driving economic traits and tropical climate adaptation of Lao native goats. Combining p values from various statistical tests into a single DCMS framework effectively assists in selecting and prioritising candidate genes for further analysis.
{"title":"Signature of Selection Analysis Reveals Candidate Genes Related to Climate Adaptation and Production Traits in Lao Native Goats","authors":"Sang Van Le, Panoraia Alexandri, Julius H.J. van der Werf, Luisa Olmo, Stephen W. Walkden-Brown, Sara de Las Heras-Saldana","doi":"10.1111/jbg.70006","DOIUrl":"10.1111/jbg.70006","url":null,"abstract":"<p>Detecting selection footprints offers valuable insight into evolutionary processes and the mechanisms underlying phenotypic diversity in selected traits. Domestication, natural and artificial selection, and breeding have produced indigenous goats well-adapted to their local environments, making them crucial genetic resources. Understanding the genetic foundation of these adaptations can guide the development of effective breeding strategies to preserve and improve local goat breeds. This study investigated selection signatures in Lao native goats using Illumina's Goat SNP50 BeadChip, analysing 420 Lao native goats, 87 goats from three Chinese breeds, and 51 Teddi goats from Pakistan as test populations. We applied the de-correlation composite multiple signals (DCMS) method, incorporating <i>p</i> values from nine statistical tests, including runs of homozygosity in the Lao goat population, and fixation index and cross-population extended haplotype homozygosity between Lao goats and test populations. Significant genomic regions were identified using a 0.05 threshold adjusted for multiple testing. Our results uncovered 24 genomic regions harbouring 68 unique-coding genes. Analysis revealed both annotated and novel candidate genes linked to a variety of characteristics, including adaptation to the tropical monsoon climate (e.g., <i>ABHD6, GATA4</i> and <i>MSRA</i>) and economic traits like growth and status (e.g., <i>CNTNAP5, FAM135B</i> and <i>GATA4</i>), reproduction (e.g., <i>NPHP3, ARSJ</i> and <i>GATA4</i>), milk production (e.g., <i>MRPL32, PRSS51</i> and <i>EPHA7</i>), and carcass characteristics (e.g., <i>GNAI1, SOX7</i> and <i>FAM135B</i>). These results offered insightful information about genetic mechanisms driving economic traits and tropical climate adaptation of Lao native goats. Combining <i>p</i> values from various statistical tests into a single DCMS framework effectively assists in selecting and prioritising candidate genes for further analysis.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":"143 1","pages":"152-171"},"PeriodicalIF":1.9,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jbg.70006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144785978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}