Daniel Cardona-Cifuentes, Juan Diego Rodriguez Neira, Lucia G Albuquerque, Rafael Espigolan, Luis Gabriel Gonzalez-Herrera, Sabrina Thaise Amorim, Rodrigo D López-Correa, Ignacio Aguilar, Fernando Baldi
This study aimed to estimate variance components (VCs) for growth and reproductive traits in Nellore cattle using two relationship matrices (pedigree relationship A matrix and pedigree plus genomic relationship H matrix), and records collected before and after genomic selection (GS) implementation. The study also evaluated how genomic breeding values (GEBV) are affected by variance components and discarding old records. The analysed traits were weight at 120 days (W120), weight and scrotal circumference at 450 days (W450 and SC450, respectively). Three datasets were used to estimate VCs, including all phenotypic information (All) or records for animals born before or after GS implementation (Before or After datasets, respectively). Both relationship matrices were considered for VC estimation, the A matrix was used in all three datasets and VC from each combination were named as A_Before, A_After, and A_All). The H was used in two datasets: H_All and H_After. Different VCs were used for GEBV prediction through ssGBLUP. This step used two possible Datasets, using all available phenotypic data (Dataset 1) or just records collected since GS implementation (Dataset 2). Validation was conducted using accuracy, bias and dispersion according to the LR method and prediction accuracy from corrected phenotypes. The heritability of all traits increased from A_Before to A_After, while estimates for A_All were intermediary. In the previous order, the estimates were 0.16, 0.17, and 0.15 for W120; 0.31, 0.39, and 0.35 for W450; 0.35, 0.47, and 0.41 for SC. For W450 and SC, using the H matrix reduced the heritability (0.33 and 0.32 for W450; 0.41 and 0.38 for SC for H_After and H_All, respectively). For W120, Dataset1 and VCs from A_After showed the highest accuracy for direct and maternal GEBV (0.953 and 0.868). For W450, Dataset 1 and VC from H_After allowed the highest accuracy (0.854) but use Dataset 2 and same VC source yield similar value (0.846). For SC, Dataset 2 with VC from H_After showed the highest accuracy (0.925). To use Dataset 2 does not cause important changes in bias or dispersion with respect to Dataset 1. The VC and genetic parameters changed for W120, W450, and SC450, using records before or after the GS implementation. For W450 and SC450, genetic variance and heritability estimates increased with the use of GS. For W120, genomic predictions were more accurate using A for VC estimation. Accuracy gains were observed for W450 and SC450 using H in VC estimation and/or discarding records before GS. It is possible to discard phenotypic records before GS implementation without generating bias or dispersion in the GEBV of young candidates.
{"title":"Influence of variance component estimates on genomic predictions for growth and reproductive-related traits in Nellore cattle.","authors":"Daniel Cardona-Cifuentes, Juan Diego Rodriguez Neira, Lucia G Albuquerque, Rafael Espigolan, Luis Gabriel Gonzalez-Herrera, Sabrina Thaise Amorim, Rodrigo D López-Correa, Ignacio Aguilar, Fernando Baldi","doi":"10.1111/jbg.12900","DOIUrl":"https://doi.org/10.1111/jbg.12900","url":null,"abstract":"<p><p>This study aimed to estimate variance components (VCs) for growth and reproductive traits in Nellore cattle using two relationship matrices (pedigree relationship A matrix and pedigree plus genomic relationship H matrix), and records collected before and after genomic selection (GS) implementation. The study also evaluated how genomic breeding values (GEBV) are affected by variance components and discarding old records. The analysed traits were weight at 120 days (W120), weight and scrotal circumference at 450 days (W450 and SC450, respectively). Three datasets were used to estimate VCs, including all phenotypic information (All) or records for animals born before or after GS implementation (Before or After datasets, respectively). Both relationship matrices were considered for VC estimation, the A matrix was used in all three datasets and VC from each combination were named as A_Before, A_After, and A_All). The H was used in two datasets: H_All and H_After. Different VCs were used for GEBV prediction through ssGBLUP. This step used two possible Datasets, using all available phenotypic data (Dataset 1) or just records collected since GS implementation (Dataset 2). Validation was conducted using accuracy, bias and dispersion according to the LR method and prediction accuracy from corrected phenotypes. The heritability of all traits increased from A_Before to A_After, while estimates for A_All were intermediary. In the previous order, the estimates were 0.16, 0.17, and 0.15 for W120; 0.31, 0.39, and 0.35 for W450; 0.35, 0.47, and 0.41 for SC. For W450 and SC, using the H matrix reduced the heritability (0.33 and 0.32 for W450; 0.41 and 0.38 for SC for H_After and H_All, respectively). For W120, Dataset1 and VCs from A_After showed the highest accuracy for direct and maternal GEBV (0.953 and 0.868). For W450, Dataset 1 and VC from H_After allowed the highest accuracy (0.854) but use Dataset 2 and same VC source yield similar value (0.846). For SC, Dataset 2 with VC from H_After showed the highest accuracy (0.925). To use Dataset 2 does not cause important changes in bias or dispersion with respect to Dataset 1. The VC and genetic parameters changed for W120, W450, and SC450, using records before or after the GS implementation. For W450 and SC450, genetic variance and heritability estimates increased with the use of GS. For W120, genomic predictions were more accurate using A for VC estimation. Accuracy gains were observed for W450 and SC450 using H in VC estimation and/or discarding records before GS. It is possible to discard phenotypic records before GS implementation without generating bias or dispersion in the GEBV of young candidates.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rebecca Martin, Torsten Pook, Jörn Bennewitz, Markus Schmid
Genomic selection is widely implemented in livestock breeding programmes across species. Its potential is also evident for sheep breeding; however, it has several limitations, particularly because of the high genetic diversity across and within sheep breeds. In Germany, the predominant sheep breed is the Merino sheep. Until now, there has been no use of genomic selection in the German Merino sheep breeding programme. In this simulation study, different genomic selection strategies were compared with a reference scenario with a breeding value estimation based on pedigree BLUP. A simplified version of the German Merino sheep breeding programme, including a health and a production trait in the breeding goal, was simulated via the R package Modular Breeding Program Simulator (MoBPS). Real genotype data were used to create a population specific simulation. The reference scenario was compared with several alternative scenarios in which selection was based on single-step GBLUP (ssGBLUP) breeding value estimation with varying genotyping strategies. In addition to scenarios in which all male and all male plus all female lambs were genotyped, scenarios with a preselection of lambs, that is only a certain proportion (top 25%, top 50%) genotyped, were simulated. The results revealed that genetic gain increased with increasing numbers of available genotypes. However, marginal gains decreased with increasing numbers of genotypes. Compared with the reference scenario, genotyping the top 25% of male lambs increased the genetic gain for the breeding ram population by 13% for both traits whereas genotyping the top 50% of male lambs or all male lambs led to increases of 18% (17%) or 26% (21%) for the health (production) trait, respectively. The potential of genotyping females in addition to male lambs was less evident on the male side with no significant differences between the scenarios with different proportions of genotyped females. The results have shown that genomic selection can be a valuable tool to increase genetic gain in the German Merino sheep population and that the genotyping of a certain proportion of animals might lead to substantial improvement over pedigree-based breeding value estimation. Nevertheless, further studies, especially economic evaluations, are needed before practical implementation.
{"title":"Genomic selection strategies for the German Merino sheep breeding programme - A simulation study.","authors":"Rebecca Martin, Torsten Pook, Jörn Bennewitz, Markus Schmid","doi":"10.1111/jbg.12897","DOIUrl":"https://doi.org/10.1111/jbg.12897","url":null,"abstract":"<p><p>Genomic selection is widely implemented in livestock breeding programmes across species. Its potential is also evident for sheep breeding; however, it has several limitations, particularly because of the high genetic diversity across and within sheep breeds. In Germany, the predominant sheep breed is the Merino sheep. Until now, there has been no use of genomic selection in the German Merino sheep breeding programme. In this simulation study, different genomic selection strategies were compared with a reference scenario with a breeding value estimation based on pedigree BLUP. A simplified version of the German Merino sheep breeding programme, including a health and a production trait in the breeding goal, was simulated via the R package Modular Breeding Program Simulator (MoBPS). Real genotype data were used to create a population specific simulation. The reference scenario was compared with several alternative scenarios in which selection was based on single-step GBLUP (ssGBLUP) breeding value estimation with varying genotyping strategies. In addition to scenarios in which all male and all male plus all female lambs were genotyped, scenarios with a preselection of lambs, that is only a certain proportion (top 25%, top 50%) genotyped, were simulated. The results revealed that genetic gain increased with increasing numbers of available genotypes. However, marginal gains decreased with increasing numbers of genotypes. Compared with the reference scenario, genotyping the top 25% of male lambs increased the genetic gain for the breeding ram population by 13% for both traits whereas genotyping the top 50% of male lambs or all male lambs led to increases of 18% (17%) or 26% (21%) for the health (production) trait, respectively. The potential of genotyping females in addition to male lambs was less evident on the male side with no significant differences between the scenarios with different proportions of genotyped females. The results have shown that genomic selection can be a valuable tool to increase genetic gain in the German Merino sheep population and that the genotyping of a certain proportion of animals might lead to substantial improvement over pedigree-based breeding value estimation. Nevertheless, further studies, especially economic evaluations, are needed before practical implementation.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Correction to: Rahbar et al., 2023. Defining desired genetic gains for Pacific white shrimp (Litopeneaus vannamei) breeding objectives using participatory approaches. Journal of Animal Breeding and Genetics. 2024;141:390-402.","authors":"","doi":"10.1111/jbg.12901","DOIUrl":"https://doi.org/10.1111/jbg.12901","url":null,"abstract":"","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142156747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pâmela A Alexandre, Silvia T Rodríguez-Ramilo, Núria Mach, Antonio Reverter
Commercial livestock producers need to prioritize genetic progress for health and efficiency traits to address productivity, welfare, and environmental concerns but face challenges due to limited pedigree information in extensive multi-sire breeding scenarios. Utilizing pooled DNA for genotyping and integrating seminal microbiome information into genomic models could enhance predictions of male fertility traits, thus addressing complexities in reproductive performance and inbreeding effects. Using the Angus Australia database comprising genotypes and pedigree data for 78,555 animals, we simulated percentage of normal sperm (PNS) and prolificacy of sires, resulting in 713 sires and 27,557 progeny in the final dataset. Publicly available microbiome data from 45 bulls was used to simulate data for the 713 sires. By incorporating both genomic and microbiome information our models were able to explain a larger proportion of phenotypic variation in both PNS (0.94) and prolificacy (0.56) compared to models using a single data source (e.g., 0.36 and 0.41, respectively, using only genomic information). Additionally, models containing both genomic and microbiome data revealed larger phenotypic differences between animals in the top and bottom quartile of predictions, indicating potential for improved productivity and sustainability in livestock farming systems. Inbreeding depression was observed to affect fertility traits, which makes the incorporation of microbiome information on the prediction of fertility traits even more actionable. Crucially, our inferences demonstrate the potential of the semen microbiome to contribute to the improvement of fertility traits in cattle and pave the way for the development of targeted microbiome interventions to improve reproductive performance in livestock.
{"title":"Combining genomics and semen microbiome increases the accuracy of predicting bull prolificacy.","authors":"Pâmela A Alexandre, Silvia T Rodríguez-Ramilo, Núria Mach, Antonio Reverter","doi":"10.1111/jbg.12899","DOIUrl":"https://doi.org/10.1111/jbg.12899","url":null,"abstract":"<p><p>Commercial livestock producers need to prioritize genetic progress for health and efficiency traits to address productivity, welfare, and environmental concerns but face challenges due to limited pedigree information in extensive multi-sire breeding scenarios. Utilizing pooled DNA for genotyping and integrating seminal microbiome information into genomic models could enhance predictions of male fertility traits, thus addressing complexities in reproductive performance and inbreeding effects. Using the Angus Australia database comprising genotypes and pedigree data for 78,555 animals, we simulated percentage of normal sperm (PNS) and prolificacy of sires, resulting in 713 sires and 27,557 progeny in the final dataset. Publicly available microbiome data from 45 bulls was used to simulate data for the 713 sires. By incorporating both genomic and microbiome information our models were able to explain a larger proportion of phenotypic variation in both PNS (0.94) and prolificacy (0.56) compared to models using a single data source (e.g., 0.36 and 0.41, respectively, using only genomic information). Additionally, models containing both genomic and microbiome data revealed larger phenotypic differences between animals in the top and bottom quartile of predictions, indicating potential for improved productivity and sustainability in livestock farming systems. Inbreeding depression was observed to affect fertility traits, which makes the incorporation of microbiome information on the prediction of fertility traits even more actionable. Crucially, our inferences demonstrate the potential of the semen microbiome to contribute to the improvement of fertility traits in cattle and pave the way for the development of targeted microbiome interventions to improve reproductive performance in livestock.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The strategy of combining reference populations has been widely recognized as an effective way to enhance the accuracy of genomic prediction (GP). This study investigated the efficiency of genomic prediction using prior information and combined reference population. In total, prior information considering trait-associated single nucleotide polymorphisms (SNPs) obtained from meta-analysis of genome-wide association studies (GWAS meta-analysis) was incorporated into three models to assess the performance of GP using combined reference populations. Two different Yorkshire populations with imputed whole genome sequence (WGS) data (9,741,620 SNPs), named as P1 (1259 individuals) and P2 (1018 individuals), were used to predict genomic estimated breeding values for three live carcass traits, including backfat thickness, loin muscle area, and loin muscle depth. A 10 × 5 fold cross-validation was used to evaluate the prediction accuracy of 203 randomly selected candidate pigs from the P2 population and the reference population consisted of the remaining pigs from P2 and the stepwise added pigs from P1. By integrating SNPs with different p-value thresholds from GWAS meta-analysis downloaded from PigGTEx Project, the prediction accuracy of GBLUP, genomic feature BLUP (GFBLUP) and GBLUP given genetic architecture (BLUP|GA) were compared. Moreover, we explored effects of reference population size and heritability enrichment of genomic features on the prediction accuracy improvement of GFBLUP and BLUP|GA relative to GBLUP. The prediction accuracy of GBLUP using all WGS markers showed average improvement of 4.380% using the P1 + P2 reference population compared with the P2 reference population. Using the combined reference population, GFBLUP and BLUP|GA yielded 6.179% and 5.525% higher accuracies than GBLUP using all SNPs based on the single reference population, respectively. Positive regression coefficients were estimated in relation to the improvement in prediction accuracy (between GFBLUP/BLUP|GA and GBLUP) and the size of the reference as well as the heritability enrichment of genomic features. Compared to the classic GBLUP model, GFBLUP and BLUP|GA models integrating GWAS meta-analysis information increase the prediction accuracy and using combined populations with enlarged reference population size further enhances prediction accuracy of the two approaches. The heritability enrichment of genomic features can be used as an indicator to reflect weather prior information is accurately presented.
{"title":"Integrating large-scale meta-analysis of genome-wide association studies improve the genomic prediction accuracy for combined pig populations.","authors":"Xiaodian Cai, Wenjing Zhang, Ning Gao, Chen Wei, Xibo Wu, Jinglei Si, Yahui Gao, Jiaqi Li, Tong Yin, Zhe Zhang","doi":"10.1111/jbg.12896","DOIUrl":"https://doi.org/10.1111/jbg.12896","url":null,"abstract":"<p><p>The strategy of combining reference populations has been widely recognized as an effective way to enhance the accuracy of genomic prediction (GP). This study investigated the efficiency of genomic prediction using prior information and combined reference population. In total, prior information considering trait-associated single nucleotide polymorphisms (SNPs) obtained from meta-analysis of genome-wide association studies (GWAS meta-analysis) was incorporated into three models to assess the performance of GP using combined reference populations. Two different Yorkshire populations with imputed whole genome sequence (WGS) data (9,741,620 SNPs), named as P1 (1259 individuals) and P2 (1018 individuals), were used to predict genomic estimated breeding values for three live carcass traits, including backfat thickness, loin muscle area, and loin muscle depth. A 10 × 5 fold cross-validation was used to evaluate the prediction accuracy of 203 randomly selected candidate pigs from the P2 population and the reference population consisted of the remaining pigs from P2 and the stepwise added pigs from P1. By integrating SNPs with different p-value thresholds from GWAS meta-analysis downloaded from PigGTEx Project, the prediction accuracy of GBLUP, genomic feature BLUP (GFBLUP) and GBLUP given genetic architecture (BLUP|GA) were compared. Moreover, we explored effects of reference population size and heritability enrichment of genomic features on the prediction accuracy improvement of GFBLUP and BLUP|GA relative to GBLUP. The prediction accuracy of GBLUP using all WGS markers showed average improvement of 4.380% using the P1 + P2 reference population compared with the P2 reference population. Using the combined reference population, GFBLUP and BLUP|GA yielded 6.179% and 5.525% higher accuracies than GBLUP using all SNPs based on the single reference population, respectively. Positive regression coefficients were estimated in relation to the improvement in prediction accuracy (between GFBLUP/BLUP|GA and GBLUP) and the size of the reference as well as the heritability enrichment of genomic features. Compared to the classic GBLUP model, GFBLUP and BLUP|GA models integrating GWAS meta-analysis information increase the prediction accuracy and using combined populations with enlarged reference population size further enhances prediction accuracy of the two approaches. The heritability enrichment of genomic features can be used as an indicator to reflect weather prior information is accurately presented.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Regular monitoring of body condition score (BCS) changes during lactation is a crucial management tool in dairy cattle; however, the current BCS measurements are often discontinuous and unevenly spaced in time. The aim of this study was to investigate the ability of random regression test-day models (RR-TDM) to predict BCS for the entire lactation in dairy cows even if the actual scoring is limited to one BCS record. The data consisted of test-day records of milk yield (MY), fat percentage (FP), protein percentage (PP) and BCS (based on a 9-point scale with unit increments; 1-9) collected from 2014 to 2022 in 128 herds in the Walloon Region of Belgium. In total, 20,698 test-day records on 2166 first-parity Holstein cows (2-12 with an average of 9.42 test-day records per cow) were available for MY, FP and PP; and 7985 records on the same animals (2-12 with an average of 3.68 records per cow) were available for BCS. To estimate the solutions, only one randomly selected BCS record per animal along with all her MY, FP and PP records were used, which were then used to predict BCS data (calibration set). The remaining BCS (1-11 with an average 2.86 BCS records per animal) were used to evaluate the goodness of the predictions (validation set). Multiple-trait RR-TDM was used to estimate (co)variance components through the average information restricted maximum likelihood (AI-REML) algorithm. Predicted BCS were grouped into nine classes as the original observed BCS used for comparison. Pearson correlation between the predicted and observed BCS, prediction error (PE), absolute prediction error (APE) and root mean squared prediction error (RMSE) were calculated. Mean (standard deviation; SD) BCS was 4.97 (1.01), 4.95 (1.07) and 4.98 (1.00) BCS units in the full, calibration and validation datasets, respectively. Pearson correlation between the observed and predicted BCS was 0.71, mean (SD) PE was 0.04 (0.52) BCS units, mean (SD) APE was 0.48 (0.53) BCS units and RMSE was 0.72 BCS units. These findings demonstrate the ability of RR-TDM to predict BCS for the entire lactation using a single BCS record along with available test-day records of milk yield and composition in Holstein dairy cows.
{"title":"Prediction of body condition score throughout lactation by random regression test-day models.","authors":"H Atashi, Y Chen, J Chelotti, P Lemal, N Gengler","doi":"10.1111/jbg.12890","DOIUrl":"https://doi.org/10.1111/jbg.12890","url":null,"abstract":"<p><p>Regular monitoring of body condition score (BCS) changes during lactation is a crucial management tool in dairy cattle; however, the current BCS measurements are often discontinuous and unevenly spaced in time. The aim of this study was to investigate the ability of random regression test-day models (RR-TDM) to predict BCS for the entire lactation in dairy cows even if the actual scoring is limited to one BCS record. The data consisted of test-day records of milk yield (MY), fat percentage (FP), protein percentage (PP) and BCS (based on a 9-point scale with unit increments; 1-9) collected from 2014 to 2022 in 128 herds in the Walloon Region of Belgium. In total, 20,698 test-day records on 2166 first-parity Holstein cows (2-12 with an average of 9.42 test-day records per cow) were available for MY, FP and PP; and 7985 records on the same animals (2-12 with an average of 3.68 records per cow) were available for BCS. To estimate the solutions, only one randomly selected BCS record per animal along with all her MY, FP and PP records were used, which were then used to predict BCS data (calibration set). The remaining BCS (1-11 with an average 2.86 BCS records per animal) were used to evaluate the goodness of the predictions (validation set). Multiple-trait RR-TDM was used to estimate (co)variance components through the average information restricted maximum likelihood (AI-REML) algorithm. Predicted BCS were grouped into nine classes as the original observed BCS used for comparison. Pearson correlation between the predicted and observed BCS, prediction error (PE), absolute prediction error (APE) and root mean squared prediction error (RMSE) were calculated. Mean (standard deviation; SD) BCS was 4.97 (1.01), 4.95 (1.07) and 4.98 (1.00) BCS units in the full, calibration and validation datasets, respectively. Pearson correlation between the observed and predicted BCS was 0.71, mean (SD) PE was 0.04 (0.52) BCS units, mean (SD) APE was 0.48 (0.53) BCS units and RMSE was 0.72 BCS units. These findings demonstrate the ability of RR-TDM to predict BCS for the entire lactation using a single BCS record along with available test-day records of milk yield and composition in Holstein dairy cows.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Although Genome Wide Analysis (GWAS) have been widely used to understand the genetic architecture of complex quantitative traits, interpreting their results in terms of the biological processes that determine those traits has been difficult or even lacking, because of the variability in responses to the tests of hypotheses within a trait, species, and breed or cross, and the lack of follow-up studies. It is then essential employing appropriate statistical tests that point out to the causal genes responsible of the relevant fraction of the genetic variability observed. We briefly review the main theoretical aspects of the two schools of causal inference (Rubin's Causal Model, RCM, and Pearl's causal inference, PCI). RCM approachs the hypothesis testing from a randomization perspective by considering a wider space of the observation, i.e. the "potential outcomes", rather than the narrower space that results from defining "treatment" effects after observing the data. Next, we discuss the assumptions involved to meet the requirements of randomization for RCM with observational data (non-designed experiments) with special emphasis on the Stable Unit Treatment Analysis (SUTVA). Due to the presence of "confounders" (i.e. systematic fixed effects, environmental permanent effects, interaction among genes, etc.), causal average treatment effects are viewed through the familiar lens of normal linear (or mixed) models. To overcome the difficulties of association analyses, a tests of causal effects is introduced using independent predicted residual breeding values from animal models of genetic evaluation that avoids the effects of population structure and confounder effects. An independent section discusses the issue of whether the additive effects defined at the "gene" level by R. A. Fisher and popularized in D. S. Falconer's textbook of quantitative genetics can be termed causal from either RCM or PCI.
尽管全基因组分析(GWAS)已被广泛用于了解复杂数量性状的遗传结构,但由于在性状、物种、品种或杂交中对假设检验的反应存在差异,而且缺乏后续研究,因此从决定这些性状的生物学过程的角度解释其结果一直很困难,甚至是缺乏。因此,必须采用适当的统计检验方法,找出造成所观察到的遗传变异的相关基因。我们简要回顾一下因果推断的两个流派(鲁宾因果模型 RCM 和珀尔因果推断 PCI)的主要理论方面。RCM 从随机化的角度进行假设检验,考虑的是更广阔的观察空间,即 "潜在结果",而不是观察数据后定义 "治疗 "效果所产生的狭窄空间。接下来,我们将讨论使用观察数据(非设计实验)进行 RCM 随机化所需的假设条件,并特别强调稳定单位处理分析 (SUTVA)。由于存在 "混杂因素"(即系统固定效应、环境永久效应、基因间的交互作用等),因果平均处理效应需要通过我们熟悉的正态线性(或混合)模型来观察。为了克服关联分析的困难,利用遗传评估动物模型的独立预测育种残值引入了因果效应检验,避免了种群结构和混杂效应的影响。有一个独立的章节讨论了 R. A. Fisher 在 "基因 "水平上定义并在 D. S. Falconer 的定量遗传学教科书中推广的加法效应是否可以从 RCM 或 PCI 中称为因果效应的问题。
{"title":"Causal inference and GWAS: Rubin, Pearl, and Mendelian randomization.","authors":"Rodolfo Juan Carlos Cantet, Just Jensen","doi":"10.1111/jbg.12898","DOIUrl":"https://doi.org/10.1111/jbg.12898","url":null,"abstract":"<p><p>Although Genome Wide Analysis (GWAS) have been widely used to understand the genetic architecture of complex quantitative traits, interpreting their results in terms of the biological processes that determine those traits has been difficult or even lacking, because of the variability in responses to the tests of hypotheses within a trait, species, and breed or cross, and the lack of follow-up studies. It is then essential employing appropriate statistical tests that point out to the causal genes responsible of the relevant fraction of the genetic variability observed. We briefly review the main theoretical aspects of the two schools of causal inference (Rubin's Causal Model, RCM, and Pearl's causal inference, PCI). RCM approachs the hypothesis testing from a randomization perspective by considering a wider space of the observation, i.e. the \"potential outcomes\", rather than the narrower space that results from defining \"treatment\" effects after observing the data. Next, we discuss the assumptions involved to meet the requirements of randomization for RCM with observational data (non-designed experiments) with special emphasis on the Stable Unit Treatment Analysis (SUTVA). Due to the presence of \"confounders\" (i.e. systematic fixed effects, environmental permanent effects, interaction among genes, etc.), causal average treatment effects are viewed through the familiar lens of normal linear (or mixed) models. To overcome the difficulties of association analyses, a tests of causal effects is introduced using independent predicted residual breeding values from animal models of genetic evaluation that avoids the effects of population structure and confounder effects. An independent section discusses the issue of whether the additive effects defined at the \"gene\" level by R. A. Fisher and popularized in D. S. Falconer's textbook of quantitative genetics can be termed causal from either RCM or PCI.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Eduard Molinero, Ramona N Pena, Joan Estany, Roger Ros-Freixedes
Mitochondria are essential organelles in the regulation of cellular energetic metabolism. Mitochondrial DNA copy number (mtDNA_CN) can be used as a proxy for mitochondria number, size, and activity. The aims of our study are to evaluate the effect of mtDNA_CN and mitochondrial haploblocks on production traits in pigs, and to identify the genetic background of this cellular phenotype. We collected performance data of 234 pigs and extracted DNA from skeletal muscle. Whole-genome sequencing data was used to determine mtDNA_CN. We found positive correlations of muscle mtDNA_CN with backfat thickness at 207 d (+0.14; p-value = 0.07) and negative correlations with carcase loin thickness (-0.14; p-value = 0.03). Pigs with mtDNA_CN values below the lower quartile had greater loin thickness (+4.1 mm; p-value = 0.01) and lower backfat thickness (-1.1 mm; p-value = 0.08), which resulted in greater carcase lean percentage (+2.4%; p-value = 0.04), than pigs with mtDNA_CN values above the upper quartile. These results support the hypothesis that a reduction of mitochondrial activity is associated with greater feed efficiency. Higher mtDNA_CN was also positively correlated with higher meat ultimate pH (+0.19; p-value <0.01) but we did not observe significant difference for meat ultimate pH between the two groups with extreme mtDNA_CN. We found no association of the most frequent mitochondrial haploblocks with mtDNA_CN or the production traits, but several genomic regions that harbour potential candidate genes with functions related to mitochondrial biogenesis and homeostasis were associated with mtDNA_CN. These regions provide new insights into the genetic background of this cellular phenotype but it is still uncertain if such associations translate into noticeable effects on the production traits.
{"title":"Association between mitochondrial DNA copy number and production traits in pigs.","authors":"Eduard Molinero, Ramona N Pena, Joan Estany, Roger Ros-Freixedes","doi":"10.1111/jbg.12894","DOIUrl":"https://doi.org/10.1111/jbg.12894","url":null,"abstract":"<p><p>Mitochondria are essential organelles in the regulation of cellular energetic metabolism. Mitochondrial DNA copy number (mtDNA_CN) can be used as a proxy for mitochondria number, size, and activity. The aims of our study are to evaluate the effect of mtDNA_CN and mitochondrial haploblocks on production traits in pigs, and to identify the genetic background of this cellular phenotype. We collected performance data of 234 pigs and extracted DNA from skeletal muscle. Whole-genome sequencing data was used to determine mtDNA_CN. We found positive correlations of muscle mtDNA_CN with backfat thickness at 207 d (+0.14; p-value = 0.07) and negative correlations with carcase loin thickness (-0.14; p-value = 0.03). Pigs with mtDNA_CN values below the lower quartile had greater loin thickness (+4.1 mm; p-value = 0.01) and lower backfat thickness (-1.1 mm; p-value = 0.08), which resulted in greater carcase lean percentage (+2.4%; p-value = 0.04), than pigs with mtDNA_CN values above the upper quartile. These results support the hypothesis that a reduction of mitochondrial activity is associated with greater feed efficiency. Higher mtDNA_CN was also positively correlated with higher meat ultimate pH (+0.19; p-value <0.01) but we did not observe significant difference for meat ultimate pH between the two groups with extreme mtDNA_CN. We found no association of the most frequent mitochondrial haploblocks with mtDNA_CN or the production traits, but several genomic regions that harbour potential candidate genes with functions related to mitochondrial biogenesis and homeostasis were associated with mtDNA_CN. These regions provide new insights into the genetic background of this cellular phenotype but it is still uncertain if such associations translate into noticeable effects on the production traits.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Miller Teodoro, Amanda Marchi Maiorano, Gabriel Soares Campos, Lúcia Galvão de Albuquerque, Henrique Nunes de Oliveira
This study aimed to investigate functional variants in chromosome 14 (BTA14) and its impact in genomic selection for birth weight (BW), weaning weight (WW), and yearling weight (YW) in Nellore cattle. Genetic parameter estimation and the weighted single-step genomic best linear unbiased prediction (WssGBLUP) analyses were performed. Direct additive heritability estimates were high for WW and YW, and moderate for BW. Trait-associated variants distributed across multiple regions on BTA14 were observed in the weighted single-step genome-wide association studies (WssGWAS) results, implying a polygenic genetic architecture for weight in different ages. Several genes have been found in association with the weight traits, including the CUB And Sushi multiple domains 3 (CSMD3), thyroglobulin (TG), and diacylglycerol O-acyltransferase 1 (DGAT1) genes. The variance explained per SNP was higher in six functional classes of gene regulatory regions (5UTR, CpG islands, downstream, upstream, long non-coding RNA, and transcription factor binding sites (TFBS)), highlighting their importance for weight traits in Nellore cattle. A marginal increase in accuracy was observed when the selected functional variants (SV) information was considered in the WssGBLUP method, probably because of the small number of SV available on BTA14. The identified genes, pathways, and functions contribute to a better understanding of the genetic and physiological mechanisms regulating weight traits in the Nellore breed.
{"title":"Genetic parameters, genomic prediction, and identification of regulatory regions located on chromosome 14 for weight traits in Nellore cattle.","authors":"Miller Teodoro, Amanda Marchi Maiorano, Gabriel Soares Campos, Lúcia Galvão de Albuquerque, Henrique Nunes de Oliveira","doi":"10.1111/jbg.12895","DOIUrl":"https://doi.org/10.1111/jbg.12895","url":null,"abstract":"<p><p>This study aimed to investigate functional variants in chromosome 14 (BTA14) and its impact in genomic selection for birth weight (BW), weaning weight (WW), and yearling weight (YW) in Nellore cattle. Genetic parameter estimation and the weighted single-step genomic best linear unbiased prediction (WssGBLUP) analyses were performed. Direct additive heritability estimates were high for WW and YW, and moderate for BW. Trait-associated variants distributed across multiple regions on BTA14 were observed in the weighted single-step genome-wide association studies (WssGWAS) results, implying a polygenic genetic architecture for weight in different ages. Several genes have been found in association with the weight traits, including the CUB And Sushi multiple domains 3 (CSMD3), thyroglobulin (TG), and diacylglycerol O-acyltransferase 1 (DGAT1) genes. The variance explained per SNP was higher in six functional classes of gene regulatory regions (5UTR, CpG islands, downstream, upstream, long non-coding RNA, and transcription factor binding sites (TFBS)), highlighting their importance for weight traits in Nellore cattle. A marginal increase in accuracy was observed when the selected functional variants (SV) information was considered in the WssGBLUP method, probably because of the small number of SV available on BTA14. The identified genes, pathways, and functions contribute to a better understanding of the genetic and physiological mechanisms regulating weight traits in the Nellore breed.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Spandan Shashwat Dash, Yogesh C Bangar, Ankit Magotra, C S Patil, Rohit Sharma, Ashish Chauhan, S P Dahiya
The objective of the study was to estimate genetic parameters of the growth traits under Bayesian inference in Harnali sheep. The information of pedigree and targeted traits of 2404 Harnali animals born to 159 sires and 695 dams was collected for the period from 1998 to 2021. The growth traits included weight at birth (BWT), 3 (WWT), 6 (6WT) and 12 (YWT) months of age. The genetic evaluation was carried out using six univariate animal models comprising direct and maternal effects using THRGIBBS1F90 and POSTGIBBSF90 programs. The fixed factors adjusted in the analysis were period of birth, sex of lamb and dam's weight at lambing. Bayesian estimates of direct heritability under best model for BWT, WWT, 6WT and YWT traits were 0.16 ± 0.04, 0.10 ± 0.04, 0.18 ± 0.04, and 0.05 ± 0.03, respectively. The significant maternal influences observed for BWT and WWT traits with 9% and 8% contribution to total phenotypic variances, respectively. Additionally, maternal permanent environmental influences were observed to BWT (4%) and YWT trait (3%). The genetic and phenotypic correlations among studied traits were high and positive. The genetic changes were positive and significant for WWT only. It was concluded that the weight at 6 months of age can be continued as selection criterion for further genetic improvement through selection. Also, maternal effects should be considered in breeding programme for enhancing early growth performance in Harnali sheep.
{"title":"Bayesian estimates of genetic parameters for growth traits in Harnali sheep.","authors":"Spandan Shashwat Dash, Yogesh C Bangar, Ankit Magotra, C S Patil, Rohit Sharma, Ashish Chauhan, S P Dahiya","doi":"10.1111/jbg.12892","DOIUrl":"https://doi.org/10.1111/jbg.12892","url":null,"abstract":"<p><p>The objective of the study was to estimate genetic parameters of the growth traits under Bayesian inference in Harnali sheep. The information of pedigree and targeted traits of 2404 Harnali animals born to 159 sires and 695 dams was collected for the period from 1998 to 2021. The growth traits included weight at birth (BWT), 3 (WWT), 6 (6WT) and 12 (YWT) months of age. The genetic evaluation was carried out using six univariate animal models comprising direct and maternal effects using THRGIBBS1F90 and POSTGIBBSF90 programs. The fixed factors adjusted in the analysis were period of birth, sex of lamb and dam's weight at lambing. Bayesian estimates of direct heritability under best model for BWT, WWT, 6WT and YWT traits were 0.16 ± 0.04, 0.10 ± 0.04, 0.18 ± 0.04, and 0.05 ± 0.03, respectively. The significant maternal influences observed for BWT and WWT traits with 9% and 8% contribution to total phenotypic variances, respectively. Additionally, maternal permanent environmental influences were observed to BWT (4%) and YWT trait (3%). The genetic and phenotypic correlations among studied traits were high and positive. The genetic changes were positive and significant for WWT only. It was concluded that the weight at 6 months of age can be continued as selection criterion for further genetic improvement through selection. Also, maternal effects should be considered in breeding programme for enhancing early growth performance in Harnali sheep.</p>","PeriodicalId":54885,"journal":{"name":"Journal of Animal Breeding and Genetics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}