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randPedPCA: rapid approximation of principal components from large pedigrees randPedPCA:快速逼近大型谱系的主成分
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-08-28 DOI: 10.1186/s12711-025-00994-y
Hanbin Lee, Rosalind Françoise Craddock, Gregor Gorjanc, Hannes Becher
Pedigrees continue to be extremely important in agriculture and conservation genetics, with the pedigrees of modern breeding programmes easily comprising millions of records. This size can make visualising the structure of such pedigrees challenging. Being graphs, pedigrees can be represented as matrices, including, most commonly, the additive (numerator) relationship matrix, $$varvec{A}$$ , and its inverse. With these matrices, the structure of pedigrees can then, in principle, be visualised via principal component analysis (PCA). However, the naive PCA of matrices for large pedigrees is challenging due to computational and memory constraints. Furthermore, computing a few leading principal components is usually sufficient for visualising the structure of a pedigree. We present the open-access R package randPedPCA for rapid pedigree PCA using sparse matrices. Our rapid pedigree PCA builds on the fact that matrix-vector multiplications with the additive relationship matrix can be carried out implicitly using the extremely sparse inverse relationship factor, $$varvec{L}^{-1}$$ , which can be directly obtained from a given pedigree. We implemented two methods. Randomised singular value decomposition tends to be faster when very few principal components are requested, and Eigen decomposition via the RSpectra library tends to be faster when more principal components are of interest. On simulated data, our package delivers a speed-up greater than 10,000 times compared to naive PCA. It further enables analyses that are impossible with naive PCA. When only two principal components are desired, the randomised PCA method can half the running time required compared to RSpectra, which we demonstrate by analysing the pedigree of the UK Kennel Club registered Labrador Retriever population of almost 1.5 million individuals. The leading principal components of pedigree matrices can be efficiently obtained using randomised singular value decomposition and other methods. Scatter plots of these scores allow for intuitive visualisation of large pedigrees. For large pedigrees, this is considerably faster than rendering plots of a pedigree graph.
系谱在农业和保护遗传学中仍然是极其重要的,现代育种计划的系谱很容易包含数百万条记录。这种大小可以使这种谱系的结构可视化具有挑战性。作为图,谱系可以表示为矩阵,包括最常见的加性(分子)关系矩阵$$varvec{A}$$及其逆矩阵。有了这些矩阵,谱系的结构原则上可以通过主成分分析(PCA)可视化。然而,由于计算和内存的限制,大型谱系矩阵的朴素PCA具有挑战性。此外,计算几个主要成分通常足以可视化谱系的结构。我们提出了一个开放存取的R包randPedPCA,用于使用稀疏矩阵的快速系谱PCA。我们的快速系谱PCA建立在这样一个事实之上,即与可加关系矩阵的矩阵向量乘法可以隐式地使用极其稀疏的逆关系因子$$varvec{L}^{-1}$$进行,该因子可以直接从给定的系谱中获得。我们实现了两个方法。当需要很少的主成分时,随机奇异值分解往往更快,而当需要更多的主成分时,通过RSpectra库进行特征分解往往更快。在模拟数据上,与原始PCA相比,我们的包提供了超过10,000倍的加速。它进一步实现了原始PCA无法实现的分析。当只需要两个主成分时,随机PCA方法与RSpectra相比可以减少一半的运行时间,我们通过分析英国犬科俱乐部注册的拉布拉多寻回犬种群的近150万只个体的血统来证明这一点。利用随机奇异值分解等方法可以有效地求出系谱矩阵的主成分。这些分数的散点图允许直观地可视化大型谱系。对于大型系谱,这比绘制系谱图要快得多。
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引用次数: 0
Single-variant genome-wide association study and regional heritability mapping of protein efficiency and performance traits in Large White pigs 大型白猪蛋白质效率和生产性能的单变异全基因组关联研究及区域遗传力定位
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-08-14 DOI: 10.1186/s12711-025-00993-z
Esther Oluwada Ewaoluwagbemiga, Audald Lloret-Villas, Adéla Nosková, Hubert Pausch, Claudia Kasper
Improvement of protein efficiency (PE) is a key factor for a sustainable pig production, as nitrogen excretion contributes substantially to environmental pollution. Protein efficiency has been shown to be heritable and genetically correlated with performance traits such as feed conversion ratio (FCR) and average daily feed intake (ADFI). This study aimed to identify genomic regions associated with these traits through single-variant genome-wide association studies (GWAS) and regional heritability mapping (RHM) using whole-genome sequence variants from low-pass sequencing of more than 1000 Swiss Large White pigs. Genomic heritability estimates using ~ 15 million variants were moderate to high, ranging from 0.33 to 0.47. GWAS did not identify significant variants for PE and FCR, but identified 45 variants at suggestive significance levels for ADFI on chromosome 1 and one for ADG on chromosome 14. Similarly, RHM detected no significant regions for PE and FCR, but five suggestive regions for ADFI (chromosome 1) and one for ADG (chromosome 14). However, by combining leading signals from GWAS and RHM, i.e. overlapping leading variants and significant regions, we highlighted putative candidate genes for PE, including PHYKPL, COL23A1, PPFIBP2, GVIN1, SYT9, RBMXL2, ZNF215, and olfactory receptor genes. Combining GWAS and RHM allowed us to identify genomic regions that may influence PE and production traits. Our apparent difficulty in detecting significant regions for these traits probably reflects the relatively small sample size, differences in genetic architecture across study designs and experimental conditions, and that polymorphisms explaining large proportions of the trait variation may not segregate in this population. Nevertheless, we identified plausible functional candidate genes in the highlighted regions, including those involved in nutrient sensing, the urea cycle, and metabolic pathways, in particular IGF1-insulin, and that have previously been reported to be associated with nitrogen metabolism in cattle and with muscle and adipose tissue metabolism and feed intake in pigs. We also highlighted a range of noncoding RNAs. Their targets and roles in gene regulation should be further investigated in this context.
提高蛋白质效率(PE)是可持续生猪生产的关键因素,因为氮排泄对环境污染有很大影响。蛋白质效率已被证明与饲料系数(FCR)和平均日采食量(ADFI)等性能性状具有遗传和遗传相关性。本研究旨在通过单变全基因组关联研究(GWAS)和区域遗传力定位(RHM),确定与这些性状相关的基因组区域,利用来自1000多头瑞士大白猪的低通测序的全基因组序列变异。使用约1500万个变异的基因组遗传率估计从中等到高,范围从0.33到0.47。GWAS没有发现PE和FCR的显著变异,但在1号染色体上发现了45个ADFI变异,在14号染色体上发现了1个ADG变异。同样,RHM没有检测到PE和FCR的显著区域,但有5个提示ADFI区域(1号染色体)和1个提示ADG区域(14号染色体)。然而,通过结合来自GWAS和RHM的先导信号,即重叠先导变异和重要区域,我们突出了PE的候选基因,包括PHYKPL、COL23A1、PPFIBP2、GVIN1、SYT9、RBMXL2、ZNF215和嗅觉受体基因。结合GWAS和RHM,我们可以确定可能影响PE和生产性状的基因组区域。我们在检测这些性状的显著区域方面的明显困难可能反映了相对较小的样本量,不同研究设计和实验条件下遗传结构的差异,以及解释大部分性状变异的多态性可能不会在该人群中分离。尽管如此,我们在突出的区域中确定了看似可行的功能候选基因,包括那些涉及营养感知、尿素循环和代谢途径的基因,特别是igf1 -胰岛素,这些基因先前被报道与牛的氮代谢、猪的肌肉和脂肪组织代谢和采食量有关。我们还强调了一系列非编码rna。在此背景下,它们的靶点和在基因调控中的作用有待进一步研究。
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引用次数: 0
Monte Carlo approximation of the logarithm of the determinant of large matrices with applications for linear mixed models in quantitative genetics 大矩阵行列式对数的蒙特卡罗近似及其在定量遗传学中线性混合模型中的应用
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-08-06 DOI: 10.1186/s12711-025-00991-1
Matias Bermann, Alejandra Alvarez-Munera, Andres Legarra, Ignacio Aguilar, Ignacy Misztal, Daniela Lourenco
Likelihood-based inferences such as variance components estimation and hypothesis testing need logarithms of the determinant (log-determinant) of high dimensional matrices. Calculating the log-determinant is memory and time-consuming, making it impossible to perform likelihood-based inferences for large datasets. We presented a method for approximating the log-determinant of positive semi-definite matrices based on repeated matrix–vector products and complex calculus. We tested the approximation of the log-determinant in beef and dairy cattle, chicken, and pig datasets including single and multiple-trait models. Average absolute relative differences between the approximated and exact log-determinant were around 10–3. The approximation was between 2 and 500 times faster than the exact calculation for medium and large matrices. We compared the restricted likelihood with (approximated) and without (exact) the approximation of the log-determinant for different values of heritability for a single-trait model. We also compared estimated variance components using exact expectation–maximization (EM) and average information (AI) REML algorithms, against two derivative-free approaches using the restricted likelihood calculated with the log-determinant approximation. The approximated and exact restricted likelihood showed maxima at the same heritability value. Derivative-free estimation of variance components with the approximated log-determinant converged to the same values as EM and AI-REML. The proposed approach is feasible to apply to any data size. The method presented in this study allows to approximate the log-determinant of positive semi-definite matrices and, therefore, the likelihood for datasets of any size. This opens the possibility of performing likelihood-based inferences for large datasets in animal and plant breeding.
基于似然的推断,如方差成分估计和假设检验,需要对高维矩阵的行列式(log-行列式)取对数。计算对数行列式既占用内存又耗时,因此无法对大型数据集执行基于似然的推断。提出了一种基于重复阵向量积和复微积分的正半定矩阵对数行列式逼近方法。我们在包括单性状和多性状模型的肉牛、奶牛、鸡和猪数据集中测试了对数决定因素的近似值。近似和精确对数行列式之间的平均绝对相对差异约为10-3。这种近似值比中型和大型矩阵的精确计算快2到500倍。我们比较了限制似然与(近似)和不(精确)对数行列式的近似对于单性状模型的不同遗传力值。我们还比较了使用精确期望最大化(EM)和平均信息(AI) REML算法的估计方差成分,以及使用对数行列式近似计算的限制似然的两种无导数方法。近似限制似然和精确限制似然在相同的遗传力值下均达到最大值。用近似的对数行列式对方差分量的无导数估计收敛到与EM和AI-REML相同的值。所提出的方法适用于任何数据大小。本研究中提出的方法允许近似正半定矩阵的对数行列式,因此,任何大小的数据集的可能性。这开启了对动植物育种中的大型数据集进行基于似然的推断的可能性。
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引用次数: 0
Genome-environment association analysis reveals climate-driven adaptation of chickens 基因组-环境关联分析揭示鸡的气候驱动适应
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-07-22 DOI: 10.1186/s12711-025-00989-9
Xiurong Zhao, Jinxin Zhang, Junhui Wen, Xinye Zhang, Haiying Li, Huie Wang, Tao Zhu, Changsheng Nie, Xinghua Li, Weifang Yang, Guomin Cao, Wenjie Xiong, Xue Wang, Zhonghua Ning, Lujiang Qu
Domestic chickens are one of the most widely raised and distributed bird species, exhibiting remarkable environmental adaptability, which makes them valuable model organisms for investigating the genetic mechanisms underlying climate adaptation. This study aimed to enhance our understanding of adaptive mechanisms in chickens by jointly analyzing genomic variations and climatic variables related to temperature and precipitation. To this end, whole-genome sequencing data were collected from 199 indigenous domestic chickens raised under diverse environmental conditions worldwide, and three genome-environment association analyses were performed. We identified 184 genes potentially associated with climate adaptation in chickens. Among these, the TSHR gene may play multiple roles in adaptation driven by different climatic factors. Immune-related genes also appear to contribute to climate adaptation in chickens. By calculating the allele frequencies of single nucleotide polymorphisms (SNPs) within candidate genes associated with temperature and precipitation adaptation, we identified five SNPs within four genes (ZNF536, ENSGALG00000049158, PAPPA, and EHMT1) that exhibited distinct geographic distribution patterns. Extended haplotype homozygosity (EHH) analysis of these SNPs revealed that haplotypes carrying the mutant allele exhibited slower decay in EHH compared to those carrying the wild-type allele. These results further indicate that the loci have experienced strong selective pressures, suggesting that the associated genes may play crucial roles in climate adaptation in chickens. Overall, this study provides new insights into the genetic mechanisms underlying climate adaptation in domestic chickens.
家鸡是最广泛饲养和分布的鸟类之一,具有良好的环境适应性,是研究气候适应遗传机制的重要模式生物。本研究旨在通过联合分析基因组变异和与温度和降水相关的气候变量,加深我们对鸡的适应机制的理解。为此,收集了199只在全球不同环境条件下饲养的本土家鸡的全基因组测序数据,并进行了3次基因组-环境关联分析。我们确定了184个可能与鸡的气候适应相关的基因。其中,TSHR基因可能在不同气候因子驱动下的适应中发挥多重作用。免疫相关基因似乎也有助于鸡的气候适应。通过计算候选基因中与温度和降水适应相关的单核苷酸多态性(snp)的等位基因频率,我们确定了4个基因(ZNF536、ENSGALG00000049158、PAPPA和EHMT1)中的5个snp,它们具有不同的地理分布模式。对这些snp的扩展单倍型纯合性(EHH)分析显示,携带突变等位基因的单倍型在EHH上的衰减速度比携带野生型等位基因的单倍型慢。这些结果进一步表明,这些基因座经历了强烈的选择压力,表明相关基因可能在鸡的气候适应中起着至关重要的作用。总的来说,本研究为家鸡气候适应的遗传机制提供了新的见解。
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引用次数: 0
Towards assessing indirect genetic effects in dairy cattle 对奶牛的间接遗传影响进行评估
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-07-21 DOI: 10.1186/s12711-025-00988-w
Ida Hansson, Piter Bijma, Freddy Fikse, Lars Rönnegård
Social interactions in a dairy herd may impact an individual’s production, e.g., milk yield. These interactions can have a genetic component, so-called indirect genetic effects (IGE). IGEs contribute to heritable variation in other species, but studies on IGEs in cows are limited. Knowledge is needed on appropriate methods to monitor social interactions in cows. We evaluated with simulations whether we can estimate IGEs in cows. We used milk yield as an example trait, and we assessed how herd size, direct and indirect genetic correlations, and magnitude of IGE affected the variance component estimations and breeding value accuracies. We investigated the importance of knowing the contact intensity and direction by either including or ignoring them in the estimation model. Additionally, we investigated how random noise added to the intensities would affect the estimates and breeding values. The estimated variance components were unbiased and precise for scenarios with different herd sizes of 50, 100, or 200 cows and direct and indirect genetic correlations of either − 0.6, 0, or 0.6. The IGE breeding value accuracies were 0.55–0.65 for cows when the IGE explained 30% of the phenotypic variance. When the magnitude of the IGE became smaller, the precision of the estimated variances became lower. The IGE breeding value accuracies were 0.16–0.52 for cows when the IGE explained 1.5–15% of the phenotypic variance. Using imprecise intensities or ignoring the contact direction underestimated the variance of the indirect effects, and the breeding value accuracies became lower. Ignoring the variation in intensities in the model led to unbiased variance component estimates but a larger residual variance and lower breeding value accuracies than if we used imprecise intensities. We could estimate IGE in dairy cattle with high accuracy and precision in a simulated population of 10,000 phenotyped cows distributed over 50–200 herds. A smaller IGE variance led to less precise estimates and lower breeding value accuracies. Ignoring information about the intensity of contact in the model would be worse than using imprecise intensities, and using technology that also monitors the direction of contact may be beneficial to estimate variance components of IGE.
奶牛群中的社会互动可能会影响个体的产量,例如产奶量。这些相互作用可能有遗传成分,即所谓的间接遗传效应(IGE)。IGEs对其他物种的遗传变异有贡献,但对奶牛IGEs的研究有限。需要掌握适当的方法来监测奶牛的社会互动。我们通过模拟来评估我们是否可以估计奶牛的IGEs。我们以产奶量为例,评估了畜群规模、直接和间接遗传相关性以及IGE的大小对方差成分估计和育种值准确性的影响。我们通过在估计模型中包括或忽略接触强度和方向来研究了解它们的重要性。此外,我们还研究了随机噪声对强度的影响对估计值和育种值的影响。对于50头、100头或200头奶牛的不同牧群规模,估计的方差成分是无偏和精确的,直接和间接遗传相关性为- 0.6、0或0.6。当IGE解释30%的表型变异时,奶牛的IGE育种值精度为0.55 ~ 0.65。当IGE的量级越小,估计方差的精度就越低。当IGE解释表型变异的1.5 ~ 15%时,奶牛的IGE育种值精度为0.16 ~ 0.52。使用不精确的强度或忽略接触方向低估了间接效应的方差,使育种值的精度降低。忽略模型中强度的变化会导致无偏方差分量估计,但与使用不精确强度相比,剩余方差更大,育种值精度更低。我们可以在分布在50-200个畜群的10,000头表现型奶牛的模拟种群中,高精度地估计奶牛的IGE。较小的IGE方差导致较不精确的估计和较低的育种值准确性。在模型中忽略有关接触强度的信息将比使用不精确的强度更糟糕,并且使用监测接触方向的技术可能有利于估计IGE的方差成分。
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引用次数: 0
Improving genomic prediction accuracy for methane emission and feed efficiency in sheep: integrating rumen microbial PCA with host genomic variation using neural network GBLUP (NN-GBLUP) 提高绵羊甲烷排放和饲料效率基因组预测精度:基于神经网络GBLUP (NN-GBLUP)整合瘤胃微生物主成分分析与宿主基因组变异
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-07-17 DOI: 10.1186/s12711-025-00987-x
Setegn Worku Alemu, Timothy P. Bilton, Patricia L. Johnson, Benjamin J. Perry, Hannah Henry, Ken G. Dodds, John C. McEwan, Suzanne J. Rowe
Methane emissions from ruminant livestock pose a significant challenge to mitigating climate change. Genomic selection offers a promising approach to reduce methane emissions, but prediction accuracy remains low due to the high cost of measuring methane emissions. Integrating rumen microbiome composition (RMC) data may improve genomic prediction accuracy, yet the high dimensionality of RMC data presents computational challenges. This study aimed to (1) evaluate the effectiveness of principal component analysis (PCA) for reducing RMC data dimensionality while retaining essential information, and (2) assess whether incorporating PCA-reduced RMC data as intermediate traits in a Neural Network Genomic Best Linear Unbiased Prediction (NN-GBLUP) model improves genomic prediction accuracy for methane emissions and feed efficiency traits in sheep. For the first objective, Principal Components (PCs) explaining 100% of variation effectively captured RMC information, with microbiability estimates closely matching those from the full dataset. For the second objective, the NN-GBLUP model incorporating PCA-reduced RMC data improved prediction accuracy compared to standard GBLUP methods. Prediction accuracy for methane emissions increased from 0.09 to 0.30 in train-test validation and from 0.15 to 0.27 in five-fold cross-validation using PCA components explaining 25% of total RMC variation. For residual feed intake, accuracy improved from 0.25 to 0.37 in train-test validation and from 0.25 to 0.34 in cross-validation. Optimal PCA components varied by trait, with 25% and 50% components showing the best results. Prediction accuracy did not improve for carbon dioxide emissions, live weight, and mid-intake, indicating trait-dependent microbiome influence. Principal Component Analysis reduced the dimensionality of rumen microbiome data while preserving essential biological information. The integration of these PCA-reduced data with host genomic information through an NN-GBLUP model substantially improved genomic prediction accuracy for methane emissions and feed efficiency in sheep. Principal components explaining 25% and 50% of the variation yielded the highest accuracy, whereas higher components (75% and 95%) reduced accuracy for methane traits. This approach shows promise for implementing genomic selection strategies to reduce methane emissions and improve feed efficiency in ruminant livestock in a computationally efficient manner, thereby contributing to climate change mitigation efforts in agriculture.
反刍牲畜的甲烷排放对减缓气候变化构成了重大挑战。基因组选择为减少甲烷排放提供了一种很有前途的方法,但由于测量甲烷排放的成本很高,预测精度仍然很低。整合瘤胃微生物组组成(RMC)数据可以提高基因组预测的准确性,但RMC数据的高维性带来了计算上的挑战。本研究旨在(1)评估主成分分析(PCA)在保留基本信息的情况下降低RMC数据维数的有效性;(2)评估将PCA降低的RMC数据作为中间性状纳入神经网络基因组最佳线性无偏预测(NN-GBLUP)模型是否提高了绵羊甲烷排放和饲料效率性状的基因组预测精度。对于第一个目标,解释100%变异的主成分(pc)有效地捕获了RMC信息,微生物估计与完整数据集的估计密切匹配。对于第二个目标,与标准GBLUP方法相比,结合pca减少RMC数据的NN-GBLUP模型提高了预测精度。在训练检验验证中,甲烷排放的预测精度从0.09提高到0.30,在五重交叉验证中,使用PCA成分的预测精度从0.15提高到0.27,解释了总RMC变化的25%。对于剩余采食量,训练试验验证的准确度从0.25提高到0.37,交叉验证的准确度从0.25提高到0.34。最优PCA成分因性状而异,25%和50%成分表现出最佳效果。二氧化碳排放量、活重和中等摄入量的预测精度没有提高,表明性状依赖微生物组的影响。主成分分析在保留基本生物信息的同时降低了瘤胃微生物组数据的维数。通过NN-GBLUP模型将这些pca减少的数据与宿主基因组信息相结合,大大提高了绵羊甲烷排放和饲料效率的基因组预测精度。主成分解释25%和50%的变异产生了最高的准确性,而更高的成分(75%和95%)降低了甲烷性状的准确性。这种方法有望实施基因组选择战略,以计算效率高的方式减少甲烷排放和提高反刍牲畜的饲料效率,从而促进农业减缓气候变化的努力。
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引用次数: 0
Positive selection on rare variants of IGF1R and BRD4 underlying the cold adaptation of wild boar IGF1R和BRD4罕见变异的正选择是野猪冷适应的基础
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-07-16 DOI: 10.1186/s12711-025-00986-y
Jianhai Chen, Ivan Jakovlić, Mikhail Sablin, Shengqian Xia, Zhixiang Xu, Yapin Guo, Renzuo Kuang, Jie Zhong, Yangying Jia, Nhien Thuy Thi Tran, Hao Yang, Hong Ma, Nikica Šprem, Jianlin Han, Di Liu, Yunxia Zhao, Shuhong Zhao
Domestic piglets often die of hypothermia, whereas Eurasian wild boar (Sus scrofa) thrives from tropical lowlands to subarctic forests. The thermoregulation of wild boar offers a natural experiment to uncover the genetic basis of cold adaptation. We conducted whole-genome resequencing on wild populations from cold regions (northern and northeastern Asia, with six samples) and warm regions (southeastern Asia and southern China, with five samples). By integrating publicly available data, we compiled a core dataset of 48 wild boar samples and an extended dataset of 445 wild boar and domestic pig samples to identify candidate genes related to cold adaptation. To investigate the functional effects of two candidate variants under positive selection, we performed CUT&Tag and RNA-seq using the northeastern Asian Min pig breed as a proxy for a cold-adapted population. Our study identified candidate genes associated with cold adaptation, which are significantly enriched in thermogenesis, fat cell development, and adipose tissue pathways. We discovered two enhancer variants under positive selection: an intronic variant of IGF1R (rs341219502) and an exonic variant of BRD4 (rs327139795). These variants exhibited the highest differentiation between populations of wild boar and domestic pigs in cold and warm region populations. Furthermore, these rare variants were absent in outgroup species and warm-region wild boars but were nearly fixed in cold-region populations. The H3K27ac CUT&Tag profiling revealed that the rs341219502 variant of IGF1R is linked to the gain of novel binding sites for three transcription factors involving regulatory changes in enhancer function. In contrast, the rs327139795 variant of BRD4 may result in the loss of a phosphorylation site due to an alteration in the amino acid sequence. Our study identified candidate genes for cold adaptation in wild boar. The variant rs341219502 in the IGF1R enhancer and the variant rs327139795 in the BRD4 exon, both of which were under positive selection and nearly fixed in populations from cold regions, suggest they may have originated de novo in these populations. Further analysis indicated that rs341219502 could influence enhancer function, while rs327139795 may affect amino acid alterations. Overall, our study highlights the adaptive evolution of genomic molecules that contribute to the remarkable environmental flexibility of wild boar.
国内仔猪经常死于体温过低,而欧亚野猪(Sus scrofa)在热带低地到亚北极森林中茁壮成长。野猪的体温调节为揭示寒冷适应的遗传基础提供了一个自然实验。我们对来自寒冷地区(亚洲北部和东北部,6个样本)和温暖地区(东南亚和中国南部,5个样本)的野生种群进行了全基因组重测序。通过整合公开数据,我们构建了48个野猪样本的核心数据集和445个野猪和家猪样本的扩展数据集,以确定与冷适应相关的候选基因。为了研究两个候选变异在正选择下的功能影响,我们使用东北亚Min猪品种作为冷适应群体的代理,进行了CUT&Tag和RNA-seq。我们的研究确定了与冷适应相关的候选基因,这些基因在产热、脂肪细胞发育和脂肪组织途径中显著富集。我们在正选择下发现了两个增强子变体:IGF1R的内含子变体(rs341219502)和BRD4的外显子变体(rs327139795)。这些变异在寒冷和温暖地区的野猪和家猪群体之间表现出最高的分化。此外,这些罕见的变异在群外物种和温暖地区的野猪中不存在,但在寒冷地区的种群中几乎是固定的。H3K27ac CUT&Tag分析显示,IGF1R的rs341219502变体与三种转录因子的新结合位点的获得有关,这些转录因子涉及增强子功能的调节变化。相比之下,BRD4的rs327139795变体可能由于氨基酸序列的改变而导致磷酸化位点的丢失。本研究确定了野猪冷适应的候选基因。IGF1R增强子中的变异rs341219502和BRD4外显子中的变异rs327139795,两者都处于正选择下,并且在寒冷地区的人群中几乎是固定的,这表明它们可能是在这些人群中重新产生的。进一步分析表明rs341219502可能影响增强子功能,而rs327139795可能影响氨基酸改变。总的来说,我们的研究强调了基因组分子的适应性进化,这有助于野猪显著的环境灵活性。
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引用次数: 0
Estimating the genetic parameters of resilience toward known and unknown disturbances in sheep using wool fibre diameter and body weight variability 利用羊毛纤维直径和体重变异估计绵羊对已知和未知干扰的恢复力的遗传参数
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-07-14 DOI: 10.1186/s12711-025-00983-1
Erin G. Smith, Samuel F. Walkom, Dominic L. Waters, Sam A. Clark
General resilience in animals can be quantified by analysing the variability in longitudinal data. However, it is unclear whether resilience indicators derived from different longitudinal data series can predict resilience to known or unknown disturbances in sheep. This study aimed to use two sources of longitudinal data, wool fibre diameter and body weight, to develop potential indicators for resilience to the known stress of weaning and overall resilience to unknown disturbances. The genetic parameters of these traits were assessed, along with the genetic correlations between traits from different data series and different definitions of resilience. Additionally, correlations between resilience indicators, health and production traits were estimated to evaluate the suitability of including resilience indicators in breeding programs. Fibre diameter and body weight records from approximately 6500 yearling Merino sheep were used to estimate four resilience indicators of resilience towards unknown disturbances: log-transformed variance (Lnvar), lag-1 Auto (Auto), skewness (Skewness) and absolute difference in the deviations (ABS) from these curves. Three other traits, rate of change in the response and recovery (ROC_response and ROC_recovery) and area between curves (ABC) during a known disturbance of weaning, were also estimated. Resilience indicators were found to be lowly heritable (0.03 ± 0.01 to 0.18 ± 0.04). Genetic correlations between the general resilience indicator and the indicator of resilience to weaning stress were generally moderate, particularly in the wool fibre diameter data, suggesting these may represent similar traits. Genetic correlations between resilience indicators derived from wool fibre diameter and body weight data were typically weak to moderate, which indicates that they possibly capture different aspects of resilience. The genetic correlations between resilience indicators and health traits were mostly low, except for body condition score. Correlations between resilience and production traits were low to moderate and favourable. Resilience indicators based on deviations in wool fibre diameter and body weight can be used to potentially select animals that are less affected by environmental disturbances. The genetic correlations between resilience indicators and health and production traits suggest that these traits could be included in breeding programs to improve resilience without adversely affecting production traits.
动物的一般恢复力可以通过分析纵向数据的可变性来量化。然而,尚不清楚来自不同纵向数据系列的弹性指标是否可以预测绵羊对已知或未知干扰的弹性。本研究旨在利用两种纵向数据来源,羊毛纤维直径和体重,以开发对已知断奶应激和对未知干扰的整体恢复能力的潜在指标。分析了这些性状的遗传参数,以及不同数据序列和不同弹性定义性状之间的遗传相关性。此外,还估计了恢复力指标、健康和生产性状之间的相关性,以评估将恢复力指标纳入育种计划的适用性。利用约6500只美利奴羊的纤维直径和体重记录,估计了对未知干扰的弹性的4个指标:对数变换方差(Lnvar)、lag-1 Auto (Auto)、偏度(skewness)和这些曲线的绝对偏差差(ABS)。另外三个特征,在已知的断奶干扰期间,反应和恢复的变化率(ROC_response和ROC_recovery)和曲线间面积(ABC)也被估计。恢复力指标的可遗传性较低(0.03±0.01 ~ 0.18±0.04)。一般恢复力指标和断奶应激恢复力指标之间的遗传相关性一般是中等的,特别是在羊毛纤维直径数据中,这表明它们可能代表相似的性状。从羊毛纤维直径和体重数据得出的弹性指标之间的遗传相关性通常为弱至中等,这表明它们可能捕获了弹性的不同方面。韧性指标与健康性状的遗传相关性除体质评分外,其余均较低。恢复力与生产性状的相关性为低至中等和有利。基于羊毛纤维直径和体重偏差的弹性指标可用于潜在地选择受环境干扰影响较小的动物。抗逆性指标与健康和生产性状之间的遗传相关性表明,这些性状可以纳入育种计划,以提高抗逆性,而不会对生产性状产生不利影响。
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引用次数: 0
The impact of deregressed foreign breeding values on national beef cattle single-step genomic evaluation 解除外源育种价值对国家肉牛单步基因组评估的影响
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-07-14 DOI: 10.1186/s12711-025-00982-2
Damilola Adekale, Zengting Liu, Ross Evans, Thierry Pabiou, Reinhard Reents, Dierck Segelke, Jens Tetens
In recent years, genetic evaluations in cattle breeding have shifted from purely national evaluations to multinational evaluations considering relatives from other countries. Integrating international estimated breeding values (EBVs) into national genomic evaluations presents challenges due to differences in evaluation methodologies and data sources. This study focused on the impact of blending internationally derived EBVs with national EBVs in the single-step genomic evaluation of German beef cattle using three approaches to deregressing EBVs. The national phenotypic data for four breeds (Angus, Charolais, Limousin, and Simmental) were obtained from the routine German beef cattle evaluation of December 2022, and the international EBVs were obtained from the routine Interbeef evaluation of January 2023. Scalar (Garrick (GA), Van Raden (VR)) and matrix deregression approaches were compared for reversibility of EBVs. A forward validation study was used to evaluate the accuracy, dispersion and level bias obtained in a purely national single-step evaluation, and single-step genomic evaluations blended with DRPs obtained from the three deregression approaches. A validation study based on forward prediction showed improved accuracy, and reduced dispersion bias in the EBVs blended with international EBVs compared to purely national EBVs, particularly for the direct and maternal effects of 200-day weight. As expected, Pearson correlation analysis revealed that the matrix deregression (> 0.99) approach outperformed the scalar deregression approaches (0.75–0.99), exhibiting a greater correlation between the EBVs obtained from DRPs and the EBVs obtained from phenotypes across the various breeds and traits in our study. A forward validation study with and without integrating foreign data across the three deregression methods showed improvement in reducing dispersion bias, as indicated by the regression coefficient. The GEBVs from an evaluation incorporating foreign information with national data showed a higher correlation to the GEBVs from a truncated evaluation than those from an evaluation without foreign information. These findings underscore the importance of accurately integrating foreign EBVs to enhance national genomic evaluations and genetic progress in livestock populations. Our results show that the matrix approach to deregressing EBVs performs optimally across traits and breeds. However, the VR deregression approach can serve as an alternative in situations where the matrix deregression approach might be too technical to implement.
近年来,牛的遗传评价已从单纯的国家评价转向考虑其他国家亲缘关系的多国评价。由于评估方法和数据来源的差异,将国际估计育种值(ebv)整合到国家基因组评估中存在挑战。本研究的重点是在德国肉牛的单步基因组评估中,使用三种方法去除ebv,将国际衍生ebv与本国ebv混合的影响。4个品种(安格斯、夏洛莱、利穆赞和西蒙塔尔)的全国表型数据来自2022年12月的德国肉牛常规评估,国际ebv数据来自2023年1月的Interbeef常规评估。比较标量(Garrick (GA), Van Raden (VR))和矩阵去回归方法对ebv可逆性的影响。采用前向验证研究来评估纯国家单步评估获得的准确性、离散度和水平偏差,以及单步基因组评估与三种去回归方法获得的DRPs混合。一项基于前向预测的验证研究表明,与纯粹的国内ebv相比,ebv与国际ebv混合的准确性更高,分散偏差减少,特别是对200天体重的直接和母体影响。正如预期的那样,Pearson相关分析显示,矩阵去回归方法(> 0.99)优于标量去回归方法(0.75-0.99),表明在我们的研究中,从DRPs中获得的ebv与从各种品种和性状的表型中获得的ebv之间存在更大的相关性。一项有和没有整合国外数据的前向验证研究表明,三种去回归方法在减少分散偏差方面有所改善,如回归系数所示。与不包含外国信息的评估相比,包含外国信息和国家数据的评估的gebv与截断评估的gebv具有更高的相关性。这些发现强调了准确整合外来ebv对加强国家基因组评估和牲畜种群遗传进展的重要性。我们的研究结果表明,矩阵方法解除ebv在性状和品种中表现最佳。然而,在矩阵解算方法可能过于技术性而无法实现的情况下,VR解算方法可以作为一种替代方案。
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引用次数: 0
Genetic parameters and potential of reducing tail and ear damage in pigs through breeding 通过育种减少猪尾耳损伤的遗传参数和潜力
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-07-14 DOI: 10.1186/s12711-025-00976-0
Bernadett Hegedűs, Natália Galoro Leite, J. Elizabeth Bolhuis, Piter Bijma
Ear and tail biting are behaviours in pigs that cause both welfare problems and financial losses. Data collection of behaviour is difficult at the large scale needed for breeding. The damage inflicted on victims can, however, serve as a proxy for animal breeding. Here, we analysed tail and ear damage scores on their original scale, binary scale, and summed versions of these damage traits to investigate which trait definition is best for genetic selection. Using data from six purebred lines (33,329 animals in total) we aimed to (1) estimate genetic parameters for ear and tail damage using direct genetic models, (2) estimate the genetic correlation between tail and ear damage, (3) compare different trait definitions and their impact on accuracy, dispersion, and bias of estimated breeding values (EBV), and (4) compare expected responses to selection for each trait definition. The heritability of the damage traits ranged from 0.04 to 0.06. Ear and tail damage were moderately correlated (0.41–0.45), meaning that the genetic propensity of being a victim is a different trait for tail versus ear biting. Estimates of the accuracy of the EBV for the traits with a five-fold cross-validation and the linear regression method based on pedigree relationships ranged from 0.27 to 0.57, the dispersion from 0.91 to 1.18, and the bias was negligible. With a selected proportion of 5%, genetic progress of ~ 0.20–0.78 genetic standard deviations per generation can be reached, depending on the trait. It was trait dependent whether direct or indirect selection yielded the most response. Ear and tail damage are heritable traits and are moderately positively correlated. The EBV for the evaluated traits related to ear and tail damage showed moderate accuracies, minor dispersion, and no bias. We hypothesize that from a welfare perspective, ear and tail damage on the original scale are the relevant breeding goal traits. For ear damage on the original scale, the highest response to selection can be expected when selecting on the trait itself, whereas for tail damage on the original scale, selection on summed damage showed the highest gain. Results from this study show that genetic improvement of the direct genetic effect of ear and tail damage is possible.
咬耳朵和咬尾巴是猪的行为,会造成福利问题和经济损失。繁殖所需的大规模行为数据收集是困难的。然而,对受害者造成的伤害可以作为动物繁殖的代表。在这里,我们分析了尾巴和耳朵在原始尺度、二值尺度上的损伤分数,并对这些损伤性状进行了总结,以研究哪种性状定义最适合遗传选择。利用6个纯种品系(共33,329只动物)的数据,我们旨在(1)利用直接遗传模型估计耳朵和尾巴损伤的遗传参数,(2)估计尾巴和耳朵损伤之间的遗传相关性,(3)比较不同性状定义及其对估计育种值(EBV)的准确性、分散性和偏差的影响,以及(4)比较每种性状定义对选择的预期反应。伤害性状的遗传力在0.04 ~ 0.06之间。耳朵和尾巴的损伤是中度相关的(0.41-0.45),这意味着作为受害者的遗传倾向是咬尾巴和咬耳朵的不同特征。5倍交叉验证和基于家系关系的线性回归方法估计的EBV精度范围为0.27 ~ 0.57,离散度范围为0.91 ~ 1.18,偏差可以忽略不计。选择比例为5%时,根据性状的不同,每代遗传进步可达0.20 ~ 0.78个遗传标准差。直接选择和间接选择产生的反应是性状决定的。穗尾损伤是遗传性状,具有中度正相关。耳尾损伤相关性状的EBV精度中等,离散度小,无偏倚。我们假设从福利角度来看,原始规模的穗尾损伤是相关的育种目标性状。对于原尺度的耳损,选择性状本身的选择响应最高,而对于原尺度的尾损,选择性状总和的选择增益最高。结果表明,对穗尾损伤的直接遗传效应进行遗传改良是可能的。
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Genetics Selection Evolution
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