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Is there an advantage of using genomic information to estimate gametic variances and improve recurrent selection in animal populations? 利用基因组信息估算配子变异和改善动物种群的循环选择是否有优势?
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-02-17 DOI: 10.1186/s12711-025-00953-7
Jean-Michel Elsen, Jérôme Raoul, Hélène Gilbert
Gametic variances can be predicted from the outcomes of a genomic prediction for any genotyped individual. This is widely used in plant breeding, applying the utility criterion (UC). This paper aims to examine the conditions to use UC for recurrent selection in livestock. Here, the UC for a selection candidate is the linear combination of the expected value of the future progeny (half of the candidate’s breeding value) and its predicted gametic variance weighted by a coefficient $$theta$$ to be optimized. First, generalizing previous results, we derived analytically the ratio of the variance of the candidate’s gametic variance and that of half of the candidate’s breeding value. This ratio depends strongly on the number of quantitative trait loci (QTL) affecting the trait and, to a lesser extent, on the distribution of QTL allele frequencies: highly unbalanced frequencies and a limited number of QTL (< 10) favor higher values of the ratio. Then, changes in average breeding values and genetic variances when recurrent selection in a population of infinite size is applied were analytically derived and analyzed for selection up to 15 generations: in this ideal situation, after 5 to 10 generations (depending on $$theta$$ ), the expected breeding values were higher with selection on UC and the genetic variance was always higher than with selection on estimated breeding values. To describe the potential of the UC in more general situations, simulations were applied to a population of 1000 males and 1000 females, with various selection rates, numbers and allele frequencies of QTL, and $$theta$$ . These simulations were performed assuming independent QTL with known positions and effects. The best values for $$theta$$ (i.e. providing the best genetic progress) were generally lower than 1, limiting the weight on the gametic variance. As expected from the analytical derivations, the gain in genetic progress from using UC was greatest when there were few QTL and allele frequencies were unbalanced, but they barely exceeded 5%. We conclude that the key factor to choose selection on UC rather than on estimated breeding values is the ratio between the variance of the gametic standard deviations and the variance of the breeding values (GEBV), which should be carefully evaluated.
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引用次数: 0
Genetic parameters and parental and early-life effects of boar semen traits
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-02-06 DOI: 10.1186/s12711-025-00954-6
Pedro Sá, Rodrigo M. Godinho, Marta Gòdia, Claudia A. Sevillano, Barbara Harlizius, Ole Madsen, Henk Bovenhuis
The objectives of this study were to estimate genetic parameters and studying the influence of early-life and parental factors on the semen traits of boars. The dataset included measurements on 449,966 ejaculates evaluated using a Computer-Assisted Sperm Analysis (CASA) system from 5692 artificial insemination (AI) boars. In total, we considered 16 semen traits measured on fresh semen and 6 sperm motility traits measured on semen after storage. Early-life effects included the dam’s parity, ages of the dam and sire, gestation length, litter size, litter sex ratio, number of piglets born alive, number of litter mates at weaning, rearing length, and weight gain. A repeatability model accounting for effects at collection was used to (1) estimate heritabilities and repeatabilities for semen traits and genetic and phenotypic correlations between traits, (2) test the significance of early-life effects, (3) quantify the contribution of exclusive dam and sire inheritances to the phenotypic variation, i.e., mitochondrial DNA and the Y chromosome, identified using a pedigree-based approach, and (4) quantify the contribution of maternal and paternal environment effects to the phenotypic variation of semen traits. We reported heritabilities between 0.11 and 0.27 and repeatabilities between 0.20 and 0.65 for semen traits. Semen quality traits showed a skewed distribution, and their transformation significantly reduced their repeatability estimates. Motility traits measured after storage were genetically different from motility traits measured on fresh semen. Early-life had suggestive effects on a limited number of semen traits. Mitochondrial DNA and the Y chromosome did not explain a discerning proportion of the phenotypic variance and the effect of the paternal environment was also negligible. We estimated a significant maternal environment effect predominantly on sperm motility traits, explaining between 2.3 and 4.6% of the phenotypic variance. Including maternal environmental effects in the model reduced heritability estimates for sperm motility traits and total morphological abnormalities. Our findings indicate that trait transformation has a large effect on repeatability estimates of semen traits. Sperm motility traits measured on fresh semen are genetically different from sperm motility traits measured after storage. Early-life conditions can have an effect on later semen quantity and quality traits. Mitochondrial DNA and Y chromosome inheritances showed no effect on semen traits. Finally, we emphasize the importance of considering maternal effects when analysing semen traits, which results in lower heritability estimates.
本研究的目的是估算遗传参数,并研究早期生活和父母因素对公猪精液性状的影响。数据集包括使用计算机辅助精子分析(CASA)系统对5692头人工授精(AI)公猪的449 966次射精进行的测量。我们总共考虑了对新鲜精液测量的 16 个精液性状和对储存后精液测量的 6 个精子活力性状。早期生活的影响包括母猪的奇偶性、母猪和公猪的年龄、妊娠期长短、窝产仔数、窝产仔性别比、活产仔数、断奶时窝产仔数、饲养期长短和增重。采用重复性模型(考虑采集时的影响):(1)估计精液性状的遗传力和重复性,以及性状之间的遗传和表型相关性;(2)检验早期生活影响的显著性;(3)量化母系和父系遗传对表型变异的贡献,即线粒体 DNA 和基因突变、(4) 量化母系和父系环境对精液性状表型变异的影响。我们发现精液性状的遗传率介于 0.11 和 0.27 之间,重复率介于 0.20 和 0.65 之间。精液质量性状呈偏斜分布,其转化显著降低了重复性估计值。贮藏后测定的精子活力性状与新鲜精液测定的精子活力性状存在遗传差异。早期生活对少数精液性状有提示性影响。线粒体 DNA 和 Y 染色体无法解释表型变异的明显比例,父系环境的影响也可以忽略不计。我们估计母源环境对精子活力性状的影响很大,可解释表型变异的 2.3% 到 4.6%。在模型中加入母源环境效应会降低精子活力性状和总形态异常的遗传率估计值。我们的研究结果表明,性状转化对精液性状的可重复性估计值有很大影响。在新鲜精液中测定的精子活力性状与贮存后测定的精子活力性状在遗传学上是不同的。早期生活条件会对后期精液数量和质量性状产生影响。线粒体 DNA 和 Y 染色体遗传对精液性状没有影响。最后,我们强调在分析精液性状时考虑母本效应的重要性,这将导致较低的遗传率估计值。
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引用次数: 0
Sequence-based GWAS in 180,000 German Holstein cattle reveals new candidate variants for milk production traits
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-02-04 DOI: 10.1186/s12711-025-00951-9
Ana-Marija Križanac, Christian Reimer, Johannes Heise, Zengting Liu, Jennie E. Pryce, Jörn Bennewitz, Georg Thaller, Clemens Falker-Gieske, Jens Tetens
Milk production traits are complex and influenced by many genetic and environmental factors. Although extensive research has been performed for these traits, with many associations unveiled thus far, due to their crucial economic importance, complex genetic architecture, and the fact that causal variants in cattle are still scarce, there is a need for a better understanding of their genetic background. In this study, we aimed to identify new candidate loci associated with milk production traits in German Holstein cattle, the most important dairy breed in Germany and worldwide. For that purpose, 180,217 cattle were imputed to the sequence level and large-scale genome-wide association study (GWAS) followed by fine-mapping and evolutionary and functional annotation were carried out to identify and prioritize new association signals. Using the imputed sequence data of a large cattle dataset, we identified 50,876 significant variants, confirming many known and identifying previously unreported candidate variants for milk (MY), fat (FY), and protein yield (PY). Genome-wide significant signals were fine-mapped with the Bayesian approach that determines the credible variant sets and generates the probability of causality for each signal. The variants with the highest probabilities of being causal were further classified using external information about the function and evolution, making the prioritization for subsequent validation experiments easier. The top potential causal variants determined with fine-mapping explained a large percentage of genetic variance compared to random ones; 178 variants explained 11.5%, 104 explained 7.7%, and 68 variants explained 3.9% of the variance for MY, FY, and PY, respectively, demonstrating the potential for causality. Our findings proved the power of large samples and sequence-based GWAS in detecting new association signals. In order to fully exploit the power of GWAS, one should aim at very large samples combined with whole-genome sequence data. These can also come with both computational and time burdens, as presented in our study. Although milk production traits in cattle are comprehensively investigated, the genetic background of these traits is still not fully understood, with the potential for many new associations to be revealed, as shown. With constantly growing sample sizes, we expect more insights into the genetic architecture of milk production traits in the future.
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引用次数: 0
Genomic selection strategies to overcome genotype by environment interactions in biosecurity-based aquaculture breeding programs 基于生物安全的水产养殖育种计划中克服环境相互作用的基因型的基因组选择策略
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-01-22 DOI: 10.1186/s12711-025-00949-3
Ziyi Kang, Jie Kong, Qi Li, Juan Sui, Ping Dai, Kun Luo, Xianhong Meng, Baolong Chen, Jiawang Cao, Jian Tan, Qiang Fu, Qun Xing, Sheng Luan
Family-based selective breeding programs typically employ both between-family and within-family selection in aquaculture. However, these programs may exhibit a reduced genetic gain in the presence of a genotype by environment interactions (G × E) when employing biosecurity-based breeding schemes (BS), compared to non-biosecurity-based breeding schemes (NBS). Fortunately, genomic selection shows promise in improving genetic gain by taking within-family variance into account. Stochastic simulation was employed to evaluate genetic gain and G × E trends in BS for improving the body weight of L. vannamei, considering selective genotyping strategies for test group (TG) at a commercial farm environment (CE), the number individuals of the selection group (SG) genotyped at nucleus breeding center (NE), and varying levels of G × E. The loss of genetic gain in BS ranged from 9.4 to 38.9% in pedigree-based selection and was more pronounced when G × E was stronger, as quantified by a lower genetic correlation for body weight between NE and CE. Genomic selection, particularly with selective genotyping of TG individuals with extreme performance, effectively offset the loss of genetic gain. With a genetic correlation of 0.8, genotyping 20 SG individuals in each candidate family achieved 93.2% of the genetic gain observed for NBS. However, when the genetic correlation fell below 0.5, the number of genotyped SG individuals per family had to be increased to 50 or more. Genetic gain improved by on average 9.4% when the number of genotyped SG individuals rose from 20 to 50, but the increase in genetic gain averaged only 2.4% when expanding from 50 to 80 individuals genotyped. In addition, the genetic correlation decreased by on average 0.13 over 30 generations of selection when performing BS and the genetic correlation fluctuated across generations. Genomic selection can effectively compensate for the loss of genetic gain in BS due to G × E. However, the number of genotyped SG individuals and the level of G × E significantly affected the extra genetic gain from genomic selection. A family-based BS selective breeding program should monitor the level of G × E and genotyping 50 SG individuals per candidate family to minimize the loss of genetic gain due to G × E, unless the level of G × E is confirmed to be low.
以家庭为基础的选择育种计划通常在水产养殖中采用家庭之间和家庭内部的选择。然而,与非生物安全育种方案(NBS)相比,采用基于生物安全的育种方案(BS)时,由于环境相互作用(G × E)存在基因型,这些方案的遗传增益可能会降低。幸运的是,基因组选择通过考虑到家族内部的变异,显示出提高遗传增益的希望。随机模拟来评估遗传增益和G×E b趋势改善l .对虾、体重的基因分型结果考虑选择性策略测试组(TG)商业农场环境(CE),个人选择组的数量(SG)的基因在核育种中心(NE),和不同程度的G×E .遗传增益损失BS范围从9.4到38.9% pedigree-based选择和更明显的G×E强时,NE和CE之间体重的遗传相关性较低。基因组选择,特别是对表现优异的TG个体进行选择性基因分型,有效地抵消了遗传增益的损失。遗传相关性为0.8,每个候选家族中20个SG个体的基因分型获得了NBS观察到的93.2%的遗传增益。然而,当遗传相关性低于0.5时,每个家庭的基因型SG个体数量必须增加到50或更多。从20个基因型个体增加到50个基因型个体,遗传增益平均提高9.4%,但从50个基因型个体增加到80个基因型个体,遗传增益平均仅提高2.4%。此外,在30代选择中,遗传相关平均降低0.13,且遗传相关在代际间波动。基因组选择可以有效补偿因G × E而导致的遗传增益损失,但基因型SG个体数量和G × E水平显著影响基因组选择带来的额外遗传增益。以家庭为基础的BS选择性育种计划应监测G × E水平,并对每个候选家庭50个SG个体进行基因分型,以尽量减少由于G × E水平低而导致的遗传增益损失,除非证实G × E水平低。
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引用次数: 0
Genetic inbreeding load and its individual prediction for milk yield in French dairy sheep 法国奶羊遗传近交系负荷及其对产奶量的个体预测
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2025-01-13 DOI: 10.1186/s12711-024-00945-z
Simona Antonios, Silvia T. Rodríguez-Ramilo, Andres Legarra, Jean-Michel Astruc, Luis Varona, Zulma G. Vitezica
The magnitude of inbreeding depression depends on the recessive burden of the individual, which can be traced back to the hidden (recessive) inbreeding load among ancestors. However, these ancestors carry different alleles at potentially deleterious loci and therefore there is individual variability of this inbreeding load. Estimation of the additive genetic value for inbreeding load is possible using a decomposition of inbreeding in partial inbreeding components due to ancestors. Both the magnitude of variation in partial inbreeding components and the additive genetic variance of inbreeding loads are largely unknown. Our study had three objectives. First, based on substitution effect under non-random matings, we showed analytically that inbreeding load of an ancestor can be expressed as an additive genetic effect. Second, we analysed the structure of individual inbreeding by examining the contributions of specific ancestors/founders using the concept of partial inbreeding coefficients in three French dairy sheep populations (Basco-Béarnaise, Manech Tête Noire and Manech Tête Rousse). Third, we included these coefficients in a mixed model as random regression covariates, to predict genetic variance and breeding values of the inbreeding load for milk yield in the same breeds. Pedigrees included 190,276, 166,028 and 633,655 animals of Basco-Béarnaise, Manech Tête Noire and Manech Tête Rousse, respectively, born between 1985 and 2021. A fraction of 99.1% of the partial inbreeding coefficients were lower than 0.01 in all breeds, meaning that in practice inbreeding occurs in pedigree loops that span several generations backwards. Less than 5% ancestors generate inbreeding, because mating is essentially between unrelated individuals. Inbreeding load estimations involved 658,731, 541,180 and 2,168,454 records of yearly milk yield from 178,123, 151,863 and 596,586 females in Basco-Béarnaise, Manech Tête Noire and Manech Tête Rousse, respectively. Adding the inbreeding load effect to the model improved the fitting (values of the statistic Likelihood Ratio Test between 132 and 383) for milk yield in the three breeds. The inbreeding load variances were equal to 11,804 and 9435 L squared of milk yield for a fully inbred (100%) descendant in Manech Tête Noire and Manech Tête Rousse. In Basco-Béarnaise, the estimate of the inbreeding load variance (11,804) was not significantly different from zero. The correlations between (direct effect) additive genetic and inbreeding load effects were − 0.09, − 0.08 and − 0.12 in Basco-Béarnaise, Manech Tête Noire and Manech Tête Rousse. The decomposition of inbreeding in partial coefficients in these populations shows that inbreeding is mostly due to several small contributions of ancestors (lower than 0.001) going back several generations (5 to 7 generations), which is according to the policy of avoiding close matings. There is variation of inbreeding load among animals, although its magnitude does not seem enough to warr
近交抑制的程度取决于个体的隐性负担,这可以追溯到祖先之间的隐性近交负荷。然而,这些祖先在潜在的有害位点上携带不同的等位基因,因此这种近交负荷存在个体差异。通过对由于祖先的部分近交成分的近交进行分解,可以估计近交负荷的加性遗传值。部分近交成分的变异幅度和近交负荷的加性遗传变异在很大程度上都是未知的。我们的研究有三个目标。首先,基于非随机交配下的替代效应,分析表明祖先近交负荷可以表达为加性遗传效应。其次,我们利用部分近交系数的概念,通过考察特定祖先/建立者对三个法国乳羊群体(basco - b arnaise, Manech Tête Noire和Manech Tête Rousse)的贡献,分析了个体近交的结构。第三,将这些系数作为随机回归协变量纳入混合模型,预测同一品种近交负荷对产奶量的遗传方差和育种值。在1985年至2021年间出生的basco - b阿纳斯,Manech Tête Noire和Manech Tête Rousse的血统分别为190,276,166,028和633,655只动物。99.1%的部分近交系数在所有品种中都低于0.01,这意味着在实践中近交发生在跨越几代的谱系循环中。只有不到5%的祖先会近亲交配,因为交配基本上是在没有血缘关系的个体之间进行的。近交负荷估计分别涉及basco - bassarnaise、Manech Tête Noire和Manech Tête Rousse地区178,123、151,863和596,586头雌性奶牛的年产奶量658,731、541,180和2168,454条记录。在模型中加入近交系负荷效应,提高了3个品种产奶量的拟合(统计似然比检验值在132 ~ 383之间)。全自交系(100%)后代产奶量的近交系负荷方差分别为11,804和9435 L平方。在basco - bsamarnaise中,近交负荷方差(11,804)的估计值与零没有显著差异。basco - bassarnaise、Manech Tête Noire和Manech Tête Rousse的加性遗传负荷效应(直接效应)与近交负荷效应的相关系数分别为- 0.09、- 0.08和- 0.12。近交的部分系数分解表明,近交主要是由于几代(5 ~ 7代)祖先的少量贡献(小于0.001),这符合避免近交的策略。动物之间的近亲繁殖负荷是有差异的,尽管其大小似乎不足以保证根据这一标准进行选择。
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引用次数: 0
Sex identification in rainbow trout using genomic information and machine learning 利用基因组信息和机器学习进行虹鳟鱼性别鉴定
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-12-30 DOI: 10.1186/s12711-024-00944-0
Andrei A. Kudinov, Antti Kause
Sex identification in farmed fish is important for the management of fish stocks and breeding programs, but identification based on visual characteristics is typically difficult or impossible in juvenile or premature fish. The amount of genomic data obtained from farmed fish is rapidly growing with the implementation of genomic selection in aquaculture. In comparison to mammals and birds, ray-finned fishes exhibit a greater diversity of sex determination systems, with an absence of conserved genomic regions. A group of genomic markers located on a standard genotyping array has been reported to potentially be linked with sex determination in rainbow trout. However, the set of markers suitable for sex identification may vary between populations. Sex identification from genomic data is usually performed using probabilistic methods, where suitable markers are known beforehand. In our study, we demonstrated the use of the Extreme Gradient Boosting approach from the supervised machine learning gradient boost framework to predict sex from unimputed genomic data, when the suitability of the markers was unknown a priori. The accuracy of the method was assessed using four simulated datasets with different genotyping error rates and one real dataset from the Finnish Rainbow Trout Breeding Program. The method showed high prediction quality on both simulated and real datasets. For simulated datasets with low (5%) and high (50%) genotyping error rates, the accuracies were 1.0 and 0.60, respectively. In the real data, the method achieved a prediction accuracy of 98%, which is suitable for routine use.
养殖鱼类的性别鉴定对鱼类种群管理和繁殖计划至关重要,但基于视觉特征的鉴定在幼鱼或早熟鱼中通常是困难或不可能的。随着基因组选择在水产养殖中的实施,从养殖鱼类中获得的基因组数据量正在迅速增长。与哺乳动物和鸟类相比,鳍鱼表现出更大的性别决定系统多样性,缺乏保守的基因组区域。据报道,一组位于标准基因分型阵列上的基因组标记可能与虹鳟鱼的性别决定有关。然而,适合于性别鉴定的一组标记可能在不同的种群中有所不同。从基因组数据中进行性别鉴定通常使用概率方法,预先知道合适的标记。在我们的研究中,我们演示了使用监督机器学习梯度增强框架中的极端梯度增强方法,当标记的适用性先验未知时,从未输入的基因组数据中预测性别。使用四个具有不同基因分型错误率的模拟数据集和一个来自芬兰虹鳟鱼育种计划的真实数据集来评估该方法的准确性。该方法在模拟和实际数据集上均显示出较高的预测质量。对于低(5%)和高(50%)基因分型错误率的模拟数据集,准确率分别为1.0和0.60。在实际数据中,该方法的预测准确率达到98%,适合日常使用。
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引用次数: 0
Haplotype analysis incorporating ancestral origins identified novel genetic loci associated with chicken body weight using an advanced intercross line 结合祖先起源的单倍型分析利用先进的杂交系发现了与鸡体重相关的新的遗传位点
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-12-20 DOI: 10.1186/s12711-024-00946-y
Lina Bu, Yuzhe Wang, Lizhi Tan, Zilong Wen, Xiaoxiang Hu, Zhiwu Zhang, Yiqiang Zhao
The genome-wide association study (GWAS) is a powerful method for mapping quantitative trait loci (QTL). However, standard GWAS can detect only QTL that segregate in the mapping population. Crossing populations with different characteristics increases genetic variability but F2 or back-crosses lack mapping resolution due to the limited number of recombination events. This drawback can be overcome with advanced intercross line (AIL) populations, which increase the number recombination events and provide a more accurate mapping resolution. Recent studies in humans have revealed ancestry-dependent genetic architecture and shown the effectiveness of admixture mapping in admixed populations. Through the incorporation of line-of-origin effects and GWAS on an F9 AIL population, we identified genes that affect body weight at eight weeks of age (BW8) in chickens. The proposed ancestral-haplotype-based GWAS (testing only the origin regardless of the alleles) revealed three new QTLs on GGA12, GGA15, and GGA20. By using the concepts of ancestral homozygotes (individuals that carry two haplotypes of the same origin) and ancestral heterozygotes (carrying one haplotype of each origin), we identified 632 loci that exhibited high-parent (the heterozygote is better than both parents) and mid-parent (the heterozygote is better than the median of the parents) dominance across 12 chromosomes. Out of the 199 genes associated with BW8, EYA1, PDE1C, and MYC were identified as the best candidate genes for further validation. In addition to the candidate genes reported in this study, our research demonstrates the effectiveness of incorporating ancestral information in population genetic analyses, which can be broadly applicable for genetic mapping in populations generated by ancestors with distinct phenotypes and genetic backgrounds. Our methods can benefit both geneticists and biologists interested in the genetic determinism of complex traits.
全基因组关联研究(GWAS)是绘制数量性状位点(QTL)图的有力方法。然而,标准的全基因组关联研究只能检测在制图群体中分离的 QTL。具有不同特征的群体杂交可增加遗传变异性,但由于重组事件数量有限,F2 或回交缺乏制图分辨率。先进的杂交系(AIL)群体可以克服这一缺点,它们增加了重组事件的数量,提供了更精确的制图分辨率。最近对人类的研究揭示了依赖祖先的遗传结构,并显示了在混血人群中进行混血绘图的有效性。通过在一个 F9 AIL 群体中纳入原系效应和 GWAS,我们确定了影响鸡八周龄体重(BW8)的基因。所提出的基于祖先组型的 GWAS(只检测起源而不检测等位基因)揭示了 GGA12、GGA15 和 GGA20 上的三个新 QTL。通过使用祖先同源基因(携带两个同源单倍型的个体)和祖先杂合基因(各携带一个同源单倍型)的概念,我们在 12 条染色体上发现了 632 个表现出高亲本(杂合基因优于双亲)和中亲本(杂合基因优于亲本的中位数)显性的位点。在与 BW8 相关的 199 个基因中,EYA1、PDE1C 和 MYC 被确定为需要进一步验证的最佳候选基因。除了本研究中报告的候选基因外,我们的研究还证明了将祖先信息纳入群体遗传分析的有效性,这种方法可广泛应用于由具有不同表型和遗传背景的祖先所产生的群体的遗传图谱绘制。我们的方法可以使遗传学家和对复杂性状的遗传决定论感兴趣的生物学家受益。
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引用次数: 0
Predicted breeding values for relative scrapie susceptibility for genotyped and ungenotyped sheep 基因型羊和非基因型羊相对痒病易感性的预测育种值
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-12-18 DOI: 10.1186/s12711-024-00947-x
Jón H. Eiríksson, Þórdís Þórarinsdóttir, Egill Gautason
Scrapie is an infectious prion disease in sheep. Selective breeding for resistant genotypes of the prion protein gene (PRNP) is an effective way to prevent scrapie outbreaks. Genotyping all selection candidates in a population is expensive but existing pedigree records can help infer the probabilities of genotypes in relatives of genotyped animals. We used linear models to predict allele content for the various PRNP alleles found in Icelandic sheep and compiled the available estimates of relative scrapie susceptibility (RSS) associated with PRNP genotypes from the literature. Using the predicted allele content and the genotypic RSS we calculated estimated breeding values (EBV) for RSS. We tested the predictions on simulated data under different scenarios that varied in the proportion of genotyped sheep, genotyping strategy, pedigree recording accuracy, genotyping error rates and assumed heritability of allele content. Prediction of allele content for rare alleles was less successful than for alleles with moderate frequencies. The accuracy of allele content and RSS EBV predictions was not affected by the assumed heritability, but the dispersion of prediction was affected. In a scenario where 40% of rams were genotyped and no errors in genotyping or recorded pedigree, the accuracy of RSS EBV for ungenotyped selection candidates was 0.49. If only 20% of rams were genotyped, or rams and ewes were genotyped randomly, or there were 10% pedigree errors, or there were 2% genotyping errors, the accuracy decreased by 0.07, 0.08, 0.03 and 0.04, respectively. With empirical data, the accuracy of RSS EBV for ungenotyped sheep was 0.46–0.65. A linear model for predicting allele content for the PRNP gene, combined with estimates of relative susceptibility associated with PRNP genotypes, can provide RSS EBV for scrapie resistance for ungenotyped selection candidates with accuracy up to 0.65. These RSS EBV can complement selection strategies based on PRNP genotypes, especially in populations where resistant genotypes are rare.
痒病是绵羊的传染性朊病毒疾病。朊蛋白基因(PRNP)抗性基因型的选择性选育是预防痒病暴发的有效途径。对种群中所有选择候选者进行基因分型是昂贵的,但现有的家谱记录可以帮助推断基因分型动物亲属的基因分型概率。我们使用线性模型预测在冰岛羊中发现的各种PRNP等位基因的等位基因含量,并从文献中编译了与PRNP基因型相关的相对痒病易感性(RSS)的可用估计。利用预测的等位基因含量和基因型RSS计算了RSS的估计育种值(EBV)。在基因型羊比例、基因分型策略、家谱记录准确性、基因分型错误率和等位基因含量的假设遗传力等不同情景下,利用模拟数据对预测结果进行检验。对罕见等位基因含量的预测不如中等频率等位基因的预测成功。等位基因含量和RSS EBV预测的准确性不受假设遗传力的影响,但预测的分散性受到影响。在40%的公羊进行基因分型,且没有基因分型错误或家谱记录错误的情况下,RSS EBV对非基因分型选择候选羊的准确性为0.49。当只对20%的公羊进行基因分型、公羊和母羊随机分型、家系误差为10%、基因分型误差为2%时,准确率分别降低0.07、0.08、0.03和0.04。实验数据表明,非基因分型绵羊的RSS EBV检测精度为0.46 ~ 0.65。预测PRNP基因等位基因含量的线性模型,结合与PRNP基因型相关的相对易感性估计,可以为非基因型选择候选人提供瘙痒病抗性的RSS EBV,准确率高达0.65。这些RSS EBV可以补充基于PRNP基因型的选择策略,特别是在耐药基因型罕见的人群中。
{"title":"Predicted breeding values for relative scrapie susceptibility for genotyped and ungenotyped sheep","authors":"Jón H. Eiríksson, Þórdís Þórarinsdóttir, Egill Gautason","doi":"10.1186/s12711-024-00947-x","DOIUrl":"https://doi.org/10.1186/s12711-024-00947-x","url":null,"abstract":"Scrapie is an infectious prion disease in sheep. Selective breeding for resistant genotypes of the prion protein gene (PRNP) is an effective way to prevent scrapie outbreaks. Genotyping all selection candidates in a population is expensive but existing pedigree records can help infer the probabilities of genotypes in relatives of genotyped animals. We used linear models to predict allele content for the various PRNP alleles found in Icelandic sheep and compiled the available estimates of relative scrapie susceptibility (RSS) associated with PRNP genotypes from the literature. Using the predicted allele content and the genotypic RSS we calculated estimated breeding values (EBV) for RSS. We tested the predictions on simulated data under different scenarios that varied in the proportion of genotyped sheep, genotyping strategy, pedigree recording accuracy, genotyping error rates and assumed heritability of allele content. Prediction of allele content for rare alleles was less successful than for alleles with moderate frequencies. The accuracy of allele content and RSS EBV predictions was not affected by the assumed heritability, but the dispersion of prediction was affected. In a scenario where 40% of rams were genotyped and no errors in genotyping or recorded pedigree, the accuracy of RSS EBV for ungenotyped selection candidates was 0.49. If only 20% of rams were genotyped, or rams and ewes were genotyped randomly, or there were 10% pedigree errors, or there were 2% genotyping errors, the accuracy decreased by 0.07, 0.08, 0.03 and 0.04, respectively. With empirical data, the accuracy of RSS EBV for ungenotyped sheep was 0.46–0.65. A linear model for predicting allele content for the PRNP gene, combined with estimates of relative susceptibility associated with PRNP genotypes, can provide RSS EBV for scrapie resistance for ungenotyped selection candidates with accuracy up to 0.65. These RSS EBV can complement selection strategies based on PRNP genotypes, especially in populations where resistant genotypes are rare.","PeriodicalId":55120,"journal":{"name":"Genetics Selection Evolution","volume":"54 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142849415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Changes in allele frequencies and genetic architecture due to selection in two pig populations 两个猪种群中等位基因频率和遗传结构因选择而发生的变化
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-12-17 DOI: 10.1186/s12711-024-00941-3
Yvonne C. J. Wientjes, Katrijn Peeters, Piter Bijma, Abe E. Huisman, Mario P. L. Calus
Genetic selection improves a population by increasing the frequency of favorable alleles. Understanding and monitoring allele frequency changes is, therefore, important to obtain more insight into the long-term effects of selection. This study aimed to investigate changes in allele frequencies and in results of genome-wide association studies (GWAS), and how those two are related to each other. This was studied in two maternal pig lines where selection was based on a broad selection index. Genotypes and phenotypes were available from 2015 to 2021. Several large changes in allele frequencies over the years were observed in both lines. The largest allele frequency changes were not larger than expected under drift based on gene dropping simulations, but the average allele frequency change was larger with selection. Moreover, several significant regions were found in the GWAS for the traits under selection, but those regions did not overlap with regions with larger allele frequency changes. No significant GWAS regions were found for the selection index in both lines, which included multiple traits, indicating that the index is affected by many loci of small effect. Additionally, many significant regions showed pleiotropic, and often antagonistic, associations with other traits under selection. This reduces the selection pressure on those regions, which can explain why those regions are still segregating, although the traits have been under selection for several generations. Across the years, only small changes in Manhattan plots were found, indicating that the genetic architecture was reasonably constant. No significant GWAS regions were found for any of the traits under selection among the regions with the largest changes in allele frequency, and the correlation between significance level of marker associations and changes in allele frequency over one generation was close to zero for all traits. Moreover, the largest changes in allele frequency could be explained by drift and were not necessarily a result of selection. This is probably because selection acted on a broad index for which no significant GWAS regions were found. Our results show that selecting on a broad index spreads the selection pressure across the genome, thereby limiting allele frequency changes.
遗传选择通过提高有利等位基因的频率来改善种群。因此,了解和监测等位基因频率的变化对于更深入地了解选择的长期效应非常重要。本研究旨在调查等位基因频率和全基因组关联研究(GWAS)结果的变化,以及这两者之间的关系。研究对象是基于广泛选择指数进行选择的两个母猪品系。基因型和表型可在 2015 年至 2021 年间获得。在这两个品系中都观察到了等位基因频率随时间推移而发生的一些巨大变化。最大的等位基因频率变化并不比基于基因下降模拟的预期漂移大,但平均等位基因频率变化却比选择大。此外,在选择性状的 GWAS 中发现了几个重要区域,但这些区域与等位基因频率变化较大的区域并不重叠。在两个品系的选择指数(包括多个性状)中都没有发现显著的 GWAS 区域,这表明该指数受到许多影响较小的位点的影响。此外,许多显著区域与其他被选择的性状呈现出多效性,而且往往是拮抗性。这就降低了这些区域的选择压力,从而解释了为什么这些区域仍然存在分离现象,尽管这些性状已经经过了几代的选择。在不同年份,曼哈顿地块只发生了很小的变化,这表明遗传结构相当稳定。在等位基因频率变化最大的区域中,没有发现任何受选择性状的重要 GWAS 区域,而且在所有性状中,标记关联的显著性水平与等位基因频率在一代中的变化之间的相关性接近于零。此外,等位基因频率的最大变化可以用漂移来解释,而不一定是选择的结果。这可能是因为选择作用于一个广泛的指数,而在这个指数上没有发现显著的全球基因组分析区域。我们的研究结果表明,在广泛的指数上进行选择会将选择压力分散到整个基因组,从而限制等位基因频率的变化。
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引用次数: 0
On the inverse association between the number of QTL and the trait-specific genomic relationship of a candidate to the training set. QTL数量与训练集候选性状特异性基因组关系的负相关研究。
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-12-13 DOI: 10.1186/s12711-024-00940-4
Christian Stricker, Rohan L. Fernando, Albrecht Melchinger, Hans-Juergen Auinger, Chris-Carolin Schoen
Accuracy of genomic prediction depends on the heritability of the trait, the size of the training set, the relationship of the candidates to the training set, and the $$text {Min}(N_{text {QTL}},M_e)$$ , where $$N_{text {QTL}}$$ is the number of QTL and $$M_e$$ is the number of independently segregating chromosomal segments. Due to LD, the number $$Q_e$$ of independently segregating QTL (effective QTL) can be lower than $$text {Min}(N_{text {QTL}},M_e)$$ . In this paper, we show that $$Q_e$$ is inversely associated with the trait-specific genomic relationship of a candidate to the training set. This provides an explanation for the inverse association between $$Q_e$$ and the accuracy of prediction. To quantify the genomic relationship of a candidate to all members of the training set, we considered the $$k^2$$ statistic that has been previously used for this purpose. It quantifies how well the marker covariate vector of a candidate can be represented as a linear combination of the rows of the marker covariate matrix of the training set. In this paper, we used Bayesian regression to make this statistic trait specific and argue that the trait-specific genomic relationship of a candidate to the training set is inversely associated with $$Q_e$$ . Simulation was used to demonstrate the dependence of the trait-specific $$k^2$$ statistic on $$Q_e$$ , which is related to $$N_{text {QTL}}$$ . The posterior distributions of the trait-specific $$k^2$$ statistic showed that the trait-specific genomic relationship between a candidate and the training set is inversely associated to $$Q_e$$ and $$N_{text {QTL}}$$ . Further, we show that trait-specific genomic relationship between a candidate and the training set is directly related to the size of the training set.
基因组预测的准确性取决于性状的遗传力、训练集的大小、候选基因与训练集的关系以及$$text {Min}(N_{text {QTL}},M_e)$$,其中$$N_{text {QTL}}$$是QTL的数量,$$M_e$$是独立分离的染色体片段的数量。由于LD的存在,独立分离的QTL(有效QTL)数量$$Q_e$$可能低于$$text {Min}(N_{text {QTL}},M_e)$$。在本文中,我们表明$$Q_e$$与训练集候选人的性状特异性基因组关系呈负相关。这就解释了$$Q_e$$与预测精度之间的负相关关系。为了量化候选对象与训练集所有成员的基因组关系,我们考虑了先前用于此目的的$$k^2$$统计量。它量化了候选人的标记协变量向量可以如何很好地表示为训练集的标记协变量矩阵的行的线性组合。在本文中,我们使用贝叶斯回归使这一统计特征特异性,并认为候选对象与训练集的性状特异性基因组关系与$$Q_e$$呈负相关。通过仿真验证了特定性状的$$k^2$$统计量对$$Q_e$$的依赖性,而与$$N_{text {QTL}}$$相关。性状特异性$$k^2$$统计量的后验分布表明,候选基因与训练集之间的性状特异性基因组关系与$$Q_e$$和$$N_{text {QTL}}$$呈负相关。此外,我们表明候选基因与训练集之间的性状特异性基因组关系与训练集的大小直接相关。
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引用次数: 0
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Genetics Selection Evolution
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