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The genetics of gaits in Icelandic horses goes beyond DMRT3, with RELN and STAU2 identified as two new candidate genes 冰岛马的步态遗传学不仅限于 DMRT3,RELN 和 STAU2 也被确定为两个新的候选基因
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-12-11 DOI: 10.1186/s12711-023-00863-6
Heiðrún Sigurðardóttir, Henrik Boije, Elsa Albertsdóttir, Thorvaldur Kristjansson, Marie Rhodin, Gabriella Lindgren, Susanne Eriksson
In domesticated animals, many important traits are complex and regulated by a large number of genes, genetic interactions, and environmental influences. The ability of Icelandic horses to perform the gait ‘pace’ is largely influenced by a single mutation in the DMRT3 gene, but genetic modifiers likely exist. The aim of this study was to identify novel genetic factors that influence pacing ability and quality of the gait through a genome-wide association study (GWAS) and correlate new findings to previously identified quantitative trait loci (QTL) and mutations. Three hundred and seventy-two Icelandic horses were genotyped with the 670 K+ Axiom Equine Genotyping Array, of which 362 had gait scores from breeding field tests. A GWAS revealed several SNPs on Equus caballus chromosomes (ECA) 4, 9, and 20 that were associated (p < 1.0 × 10–5) with the breeding field test score for pace. The two novel QTL on ECA4 and 9 were located within the RELN and STAU2 genes, respectively, which have previously been associated with locomotor behavior in mice. Haplotypes were identified and the most frequent one for each of these two QTL had a large favorable effect on pace score. The second most frequent haplotype for the RELN gene was positively correlated with scores for tölt, trot, gallop, and canter. Similarly, the second most frequent haplotype for the STAU2 gene had favorable effects on scores for trot and gallop. Different genotype ratios of the haplotypes in the RELN and STAU2 genes were also observed in groups of horses with different levels of pacing ability. Furthermore, interactions (p < 0.05) were detected for the QTL in the RELN and STAU2 genes with the DMRT3 gene. The novel QTL on ECA4, 9, and 20, along with the effects of the DMRT3 variant, were estimated to account jointly for 27.4% of the phenotypic variance of the gait pace. Our findings provide valuable information about the genetic architecture of pace beyond the contribution of the DMRT3 gene and indicate genetic interactions that contribute to the complexity of this trait. Further investigation is needed to fully understand the underlying genetic factors and interactions.
在驯养的动物中,许多重要的性状都很复杂,受到大量基因、基因相互作用和环境影响的调控。冰岛马的步态 "步伐 "能力在很大程度上受 DMRT3 基因单一突变的影响,但也可能存在遗传修饰因子。本研究旨在通过全基因组关联研究(GWAS)确定影响步态能力和步态质量的新遗传因素,并将新发现与之前确定的数量性状位点(QTL)和突变相关联。利用 670 K+ Axiom 马基因分型阵列对 372 匹冰岛马进行了基因分型,其中 362 匹马的步态评分来自育种现场测试。一项基因组分析发现,Equus caballus 染色体(ECA)4、9 和 20 上的几个 SNP 与育种现场测试的步态评分相关(p < 1.0 × 10-5)。ECA4 和 9 上的两个新 QTL 分别位于 RELN 和 STAU2 基因内,这两个基因以前曾与小鼠的运动行为有关。这两个 QTL 上最常见的单倍型对步速评分有很大的有利影响。RELN基因的第二高频单倍型与tölt、toott、gallop和canter的得分呈正相关。同样,STAU2 基因的第二高频单倍型对小跑和奔跑的得分也有有利影响。在起搏能力不同的马匹组中,还观察到 RELN 和 STAU2 基因单倍型的不同基因型比例。此外,还检测到 RELN 和 STAU2 基因的 QTL 与 DMRT3 基因之间存在相互作用(p < 0.05)。据估计,ECA4、9和20上的新QTL以及DMRT3变异的影响共同占步态步伐表型变异的27.4%。除了 DMRT3 基因的贡献之外,我们的研究结果还提供了有关步速遗传结构的宝贵信息,并指出了导致这一性状复杂性的遗传相互作用。要全面了解潜在的遗传因素和相互作用,还需要进一步的研究。
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引用次数: 0
A meta-analysis of genetic and phenotypic diversity of European local pig breeds reveals genomic regions associated with breed differentiation for production traits 一项对欧洲地方猪品种遗传和表型多样性的荟萃分析揭示了与生产性状品种分化相关的基因组区域
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-12-07 DOI: 10.1186/s12711-023-00858-3
Klavdija Poklukar, Camille Mestre, Martin Škrlep, Marjeta Čandek-Potokar, Cristina Ovilo, Luca Fontanesi, Juliette Riquet, Samuele Bovo, Giuseppina Schiavo, Anisa Ribani, Maria Muñoz, Maurizio Gallo, Ricardo Bozzi, Rui Charneca, Raquel Quintanilla, Goran Kušec, Marie-José Mercat, Christoph Zimmer, Violeta Razmaite, Jose P. Araujo, Čedomir Radović, Radomir Savić, Danijel Karolyi, Bertrand Servin
Intense selection of modern pig breeds has resulted in genetic improvement of production traits while the performance of local pig breeds has remained lower. As local pig breeds have been bred in extensive systems, they have adapted to specific environmental conditions, resulting in a rich genotypic and phenotypic diversity. This study is based on European local pig breeds that have been genetically characterized using DNA-pool sequencing data and phenotypically characterized using breed level phenotypes related to stature, fatness, growth, and reproductive performance traits. These data were analyzed using a dedicated approach to detect signatures of selection linked to phenotypic traits in order to uncover potential candidate genes that may underlie adaptation to specific environments. Analysis of the genetic data of European pig breeds revealed four main axes of genetic variation represented by the Iberian and three modern breeds (i.e. Large White, Landrace, and Duroc). In addition, breeds clustered according to their geographical origin, for example French Gascon and Basque breeds, Italian Apulo Calabrese and Casertana breeds, Spanish Iberian, and Portuguese Alentejano breeds. Principal component analysis of the phenotypic data distinguished the larger and leaner breeds with better growth potential and reproductive performance from the smaller and fatter breeds with low growth and reproductive efficiency. Linking the signatures of selection with phenotype identified 16 significant genomic regions associated with stature, 24 with fatness, 2 with growth, and 192 with reproduction. Among them, several regions contained candidate genes with possible biological effects on stature, fatness, growth, and reproductive performance traits. For example, strong associations were found for stature in two regions containing, respectively, the ANXA4 and ANTXR1 genes, for fatness in a region containing the DNMT3A and POMC genes and for reproductive performance in a region containing the HSD17B7 gene. In this study on European local pig breeds, we used a dedicated approach for detecting signatures of selection that were supported by phenotypic data at the breed level to identify potential candidate genes that may have adapted to different living environments and production systems.
现代猪品种的密集选择导致了生产性状的遗传改进,而地方猪品种的性能仍然较低。由于地方猪品种已经在广泛的系统中繁殖,它们已经适应了特定的环境条件,从而产生了丰富的基因型和表型多样性。本研究以欧洲地方猪品种为基础,利用dna库测序数据对其进行遗传表征,并利用与身高、肥胖、生长和繁殖性能性状相关的品种水平表型对其进行表型表征。这些数据使用专门的方法进行分析,以检测与表型性状相关的选择特征,以发现可能成为适应特定环境基础的潜在候选基因。对欧洲猪种遗传数据的分析揭示了以伊比利亚猪和三个现代猪种(即大白猪、长白猪和杜洛克猪)为代表的四条主要遗传变异轴。此外,品种根据其地理起源聚集在一起,例如法国加斯科尼和巴斯克品种,意大利Apulo Calabrese和Casertana品种,西班牙伊比利亚品种和葡萄牙阿连特哈诺品种。表型数据的主成分分析区分出生长潜力和繁殖性能较好的大瘦品种和生长和繁殖效率较低的小胖品种。将选择特征与表型联系起来,鉴定出16个与身高有关的显著基因组区域,24个与肥胖有关,2个与生长有关,192个与生殖有关。其中,一些区域含有可能对身高、肥胖、生长和繁殖性能性状产生生物学影响的候选基因。例如,在两个分别含有ANXA4和ANTXR1基因的区域,在含有DNMT3A和POMC基因的区域,在含有HSD17B7基因的区域,发现了身高与肥胖的强关联。在这项对欧洲地方猪品种的研究中,我们使用了一种专门的方法来检测由品种水平的表型数据支持的选择特征,以确定可能适应不同生活环境和生产系统的潜在候选基因。
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引用次数: 0
Genetic parameters, reciprocal cross differences, and age-related heterosis of egg-laying performance in chickens 鸡产蛋性能的遗传参数、互交差异和年龄相关的杂种优势
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-12-07 DOI: 10.1186/s12711-023-00862-7
Aixin Ni, Mario P. L. Calus, Henk Bovenhuis, Jingwei Yuan, Yuanmei Wang, Yanyan Sun, Jilan Chen
Egg-laying performance is economically important in poultry breeding programs. Crossbreeding between indigenous and elite commercial lines to exploit heterosis has been an upward trend in traditional layer breeding for niche markets. The objective of this study was to analyse the genetic background and to estimate the heterosis of longitudinal egg-laying traits in reciprocal crosses between an indigenous Beijing-You and an elite commercial White Leghorn layer line. Egg weights were measured for the first three eggs, monthly from 28 to 76 weeks of age, and at 86 and 100 weeks of age. Egg quality traits were measured at 32, 54, 72, 86, and 100 weeks of age. Egg production traits were measured from the start of lay until 43, 72, and 100 weeks of age. Heritabilities and phenotypic and genetic correlations were estimated. Heterosis was estimated as the percentage difference of performance of a crossbred from that of the parental average. Reciprocal cross differences were estimated as the difference between the reciprocal crossbreds as a percentage of the parental average. Estimates of heritability of egg weights ranged from 0.29 to 0.75. Estimates of genetic correlations between egg weights at different ages ranged from 0.72 to 1.00. Estimates of heritability for cumulative egg numbers until 43, 72, and 100 weeks of age were around 0.15. Estimates of heterosis for egg weight and cumulative egg number increased with age, ranging from 1.0 to 9.0% and from 1.4 to 11.6%, respectively. From 72 to 100 weeks of age, crossbreds produced more eggs per week than the superior parent White Leghorn (3.5 eggs for White Leghorn, 3.8 and 3.9 eggs for crossbreds). Heterosis for eggshell thickness ranged from 2.7 to 6.6% when using Beijing-You as the sire breed. No significant difference between reciprocal crosses was observed for the investigated traits, except for eggshell strength at 54 weeks of age. The heterosis was substantial for egg weight and cumulative egg number, and increased with age, suggesting that non-additive genetic effects are important in crossbreds between the indigenous and elite breeds. Generally, the crossbreds performed similar to or even outperformed the commercial White Leghorns for egg production persistency.
产蛋性能在家禽育种计划中具有重要的经济意义。在传统蛋鸡育种中,利用本地优良品系与优质商品品系杂交利用杂种优势已成为一种上升趋势。本研究的目的是分析京优与利来霍恩白产蛋系正交纵向产卵性状的遗传背景和杂种优势。在28周龄至76周龄、86周龄和100周龄期间每月测量前三个蛋的蛋重。分别在32、54、72、86和100周龄测定鸡蛋品质性状。从产蛋开始至43、72和100周龄测量产蛋性状。对遗传力、表型和遗传相关性进行了估计。杂种优势估计为一个杂交品种的性能与亲本平均性能的百分比差异。互易杂交差的估计是互易杂交间的差占亲本平均值的百分比。估计蛋重遗传率在0.29到0.75之间。不同年龄的蛋重之间的遗传相关性估计在0.72到1.00之间。到43、72和100周龄的累积卵数的遗传率估计约为0.15。卵重和累积卵数的杂种优势估计值随年龄增长而增加,分别为1.0 ~ 9.0%和1.4 ~ 11.6%。从72周龄到100周龄,杂交品种每周产蛋量高于优良亲本白来客霍恩(白来客霍恩3.5个蛋,杂交品种3.8个蛋和3.9个蛋)。以京优为主种时,蛋壳厚度的杂种优势为2.7 ~ 6.6%。除54周龄蛋壳强度外,其他性状在正交间无显著差异。在蛋重和累积蛋数方面,杂种优势显著,且随年龄增长而增加,表明在地方品种和优良品种杂交中,非加性遗传效应很重要。一般来说,杂交品种在产蛋持续性方面的表现与商业白来角相似,甚至优于商业白来角。
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引用次数: 0
Impact of population structure in the estimation of recent historical effective population size by the software GONE 人口结构对用GONE软件估计近期历史有效人口规模的影响
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-12-04 DOI: 10.1186/s12711-023-00859-2
Irene Novo, Pilar Ordás, Natalia Moraga, Enrique Santiago, Humberto Quesada, Armando Caballero
Effective population size (Ne) is a crucial parameter in conservation genetics and animal breeding. A recent method, implemented by the software GONE, has been shown to be rather accurate in estimating recent historical changes in Ne from a single sample of individuals. However, GONE estimations assume that the population being studied has remained isolated for a period of time, that is, without migration or confluence of other populations. If this occurs, the estimates of Ne can be heavily biased. In this paper, we evaluate the impact of migration and admixture on the estimates of historical Ne provided by GONE through a series of computer simulations considering several scenarios: (a) the mixture of two or more ancestral populations; (b) subpopulations that continuously exchange individuals through migration; (c) populations receiving migrants from a large source; and (d) populations with balanced systems of chromosomal inversions, which also generate genetic structure. Our results indicate that the estimates of historical Ne provided by GONE may be substantially biased when there has been a recent mixture of populations that were previously separated for a long period of time. Similarly, biases may occur when the rate of continued migration between populations is low, or when chromosomal inversions are present at high frequencies. However, some biases due to population structuring can be eliminated by conducting population structure analyses and restricting the estimation to the differentiated groups. In addition, disregarding the genomic regions that are involved in inversions can also remove biases in the estimates of Ne. Different kinds of deviations from isolation and panmixia of the populations can generate biases in the recent historical estimates of Ne. Therefore, estimation of past demography could benefit from performing population structure analyses beforehand, by mitigating the impact of these biases on historical Ne estimates.
有效种群大小(Ne)是保护遗传学和动物育种的重要参数。最近,一种由GONE软件实现的方法被证明在从单个个体样本中估计Ne的近期历史变化方面相当准确。然而,go的估计假设所研究的种群在一段时间内保持隔离,即没有迁移或与其他种群汇合。如果发生这种情况,对Ne的估计可能有严重偏差。在本文中,我们通过一系列的计算机模拟,考虑了以下几种情况,评估了迁移和混合对go提供的历史Ne估计的影响:(a)两个或多个祖先种群的混合;(b)通过迁徙不断交换个体的亚种群;(c)接收大量移民的人口;(d)具有平衡的染色体倒位系统的种群,这也会产生遗传结构。我们的研究结果表明,当以前分离了很长一段时间的人口最近混合在一起时,由go提供的历史Ne估计可能会有很大的偏差。同样,当种群间持续迁移率较低或染色体倒位出现频率较高时,偏差也可能发生。然而,通过进行人口结构分析和将估计限制在有差异的群体中,可以消除由于人口结构造成的一些偏差。此外,不考虑涉及倒位的基因组区域也可以消除Ne估计中的偏差。从种群的隔离和泛群中产生的不同类型的偏差可以在最近对Ne的历史估计中产生偏差。因此,通过减轻这些偏差对历史Ne估计的影响,预先进行人口结构分析可以使过去的人口统计估计受益。
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引用次数: 0
Genetic correlations of direct and indirect genetic components of social dominance with fitness and morphology traits in cattle 牛社会优势的直接和间接遗传成分与适合度和形态性状的遗传相关性
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-11-30 DOI: 10.1186/s12711-023-00845-8
Beniamino Tuliozi, Roberto Mantovani, Ivana Schoepf, Shogo Tsuruta, Enrico Mancin, Cristina Sartori
Within the same species, individuals show marked variation in their social dominance. Studies on a handful of populations have indicated heritable genetic variation for this trait, which is determined by both the genetic background of the individual (direct genetic effect) and of its opponent (indirect genetic effect). However, the evolutionary consequences of selection for this trait are largely speculative, as it is not a usual target of selection in livestock populations. Moreover, studying social dominance presents the challenge of working with a phenotype with a mean value that cannot change in the population, as for every winner of an agonistic interaction there will necessarily be a loser. Thus, to investigate what could be the evolutionary response to selection for social dominance, it is necessary to focus on traits that might be correlated with it. This study investigated the genetic correlations of social dominance, both direct and indirect, with several morphology and fitness traits. We used a dataset of agonistic contests involving cattle (Bos taurus): during these contests, pairs of cows compete in ritualized interactions to assess social dominance. The outcomes of 37,996 dominance interactions performed by 8789 cows over 20 years were combined with individual data for fertility, mammary health, milk yield and morphology and analysed using bivariate animal models including indirect genetic effects. We found that winning agonistic interactions has a positive genetic correlation with more developed frontal muscle mass, lower fertility, and poorer udder health. We also discovered that the trends of changes in the estimated breeding values of social dominance, udder health and more developed muscle mass were consistent with selection for social dominance in the population. We present evidence that social dominance is genetically correlated with fitness traits, as well as empirical evidence of the possible evolutionary trade-offs between these traits. We show that it is feasible to estimate genetic correlations involving dyadic social traits.
在同一物种中,个体在社会支配地位上表现出明显的差异。对少数种群的研究表明,这种性状具有可遗传的遗传变异,这是由个体的遗传背景(直接遗传效应)和其对手的遗传背景(间接遗传效应)共同决定的。然而,这一特征的选择的进化结果在很大程度上是推测性的,因为它不是牲畜种群选择的通常目标。此外,研究社会支配地位提出了一项挑战,即研究具有在种群中不能改变的平均值的表型,因为每一个竞争相互作用的赢家必然会有一个输家。因此,为了研究社会优势选择的进化反应,有必要关注可能与之相关的特征。本研究探讨了社会优势与若干形态和适合度性状的直接和间接遗传相关性。我们使用了一个涉及牛(Bos taurus)的竞争竞赛数据集:在这些竞赛中,成对的牛在仪式化的互动中竞争,以评估社会支配地位。研究人员将8789头奶牛在20年间进行的37,996次优势相互作用的结果与生育力、乳腺健康、产奶量和形态的个体数据相结合,并使用包括间接遗传效应在内的双变量动物模型进行分析。我们发现,获胜的激动相互作用与更发达的额肌质量、较低的生育能力和较差的乳房健康状况具有正相关的遗传关系。我们还发现,社会优势、乳房健康和更发达的肌肉质量的估计育种值的变化趋势与群体中社会优势的选择一致。我们提供的证据表明,社会优势与健康特征在遗传上相关,以及这些特征之间可能的进化权衡的经验证据。我们表明,估计涉及二元社会特征的遗传相关性是可行的。
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引用次数: 0
Micro-genetic environmental sensitivity across macro-environments of chickens reared in Burkina Faso and France 在布基纳法索和法国饲养的鸡在宏观环境中的微遗传环境敏感性
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-11-30 DOI: 10.1186/s12711-023-00854-7
Mette Dam Madsen, Naomi Duijvesteijn, Julius van der Werf, Sam Clark
Commercial poultry production systems follow a pyramidal structure with a nucleus of purebred animals under controlled conditions at the top and crossbred animals under commercial production conditions at the bottom. Genetic correlations between the same phenotypes on nucleus and production animals can therefore be influenced by differences both in purebred-crossbred genotypes and in genotype-by-environment interactions across the two environments, known as macro-genetic environmental sensitivity (GES). Within each environment, genotype-by-environment interactions can also occur due to so-called micro-GES. Micro-GES causes heritable variation in phenotypes and decreases uniformity. In this study, genetic variances of body weight (BW) and of micro-GES of BW and the impacts of purebred-crossbred differences and macro-environmental differences on micro-GES of BW were estimated. The dataset contained three subpopulations of slow-growing broiler chickens: purebred chickens (PB) reared in France, and crossbred chickens reared in France (FR) under the same conditions as PB or reared in Burkina Faso (BF) under local conditions. The crossbred chickens were offspring of the same dam line and had PB as their sire line. Estimates of heritability of BW and micro-GES of BW were 0.54 (SE of 0.02) and 0.06 (0.01), 0.67 (0.03) and 0.03 (0.01), and 0.68 (0.04) and 0.02 (0.01) for the BF, FR, and PB subpopulations, respectively. Estimates of the genetic correlations for BW between the three subpopulations were moderately positive (0.37 to 0.53) and those for micro-GES were weakly to moderately positive (0.01 to 0.44). The results show that the heritability of the micro-GES of BW varies with macro-environment, which indicates that responses to selection are expected to differ between macro-environments. The weak to moderate positive genetic correlations between subpopulations indicate that both macro-environmental differences and purebred-crossbred differences can cause re-ranking of sires based on their estimated breeding values for micro-GES of BW. Thus, the sire that produces the most variable progeny in one macro-environment may not be the one that produces the most variable offspring in another. Similarly, the sire that produces the most variable purebred progeny may not produce the most variable crossbred progeny. The results highlight the need for investigating micro-GES for all subpopulations included in the selection scheme, to ensure optimal genetic gain in all subpopulations.
商业家禽生产系统遵循金字塔结构,上层是控制条件下的纯种动物,下层是商业生产条件下的杂交动物。因此,核动物和生产动物上相同表型之间的遗传相关性可能受到纯种杂交基因型差异和两种环境中基因型与环境相互作用差异的影响,即宏观遗传环境敏感性(GES)。在每个环境中,基因型与环境的相互作用也可能由于所谓的微ges而发生。微ges引起表型遗传变异,降低均匀性。本研究估计了体重和体重微ges的遗传变异,以及纯种杂交差异和宏观环境差异对体重微ges的影响。该数据集包含生长缓慢的肉鸡的三个亚群:在法国饲养的纯种鸡(PB),以及在与PB相同条件下在法国饲养的杂交鸡(FR)或在当地条件下在布基纳法索饲养的杂交鸡(BF)。杂交鸡是同一母系的后代,其父系为PB。BF、FR和PB亚群的体重和微体重遗传力分别为0.54 (SE为0.02)和0.06(0.01),0.67(0.03)和0.03(0.01),0.68(0.04)和0.02(0.01)。3个亚群体重的遗传相关性为中正相关(0.37 ~ 0.53),微体重的遗传相关性为中正相关(0.01 ~ 0.44)。结果表明,不同宏观环境下,BW的微观遗传力存在差异,表明不同宏观环境下对选择的响应存在差异。亚群体间的弱至中度正遗传相关表明,宏观环境差异和纯种杂交差异都可能导致种群根据其估计的体重微ges繁殖值重新排序。因此,在一种宏观环境中产生最多变异后代的父系,在另一种宏观环境中产生最多变异后代的父系,可能就不是这样了。同样,产生最多变异的纯种后代的父系可能不会产生最多变异的杂交后代。研究结果表明,有必要对纳入选择方案的所有亚群进行微观遗传变异研究,以确保在所有亚群中获得最佳遗传增益。
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引用次数: 0
Sequenced-based GWAS for linear classification traits in Belgian Blue beef cattle reveals new coding variants in genes regulating body size in mammals 基于序列的比利时蓝肉牛线性分类性状GWAS揭示了哺乳动物调节体型基因的新编码变异
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-11-28 DOI: 10.1186/s12711-023-00857-4
José Luis Gualdrón Duarte, Can Yuan, Ann-Stephan Gori, Gabriel C. M. Moreira, Haruko Takeda, Wouter Coppieters, Carole Charlier, Michel Georges, Tom Druet
Cohorts of individuals that have been genotyped and phenotyped for genomic selection programs offer the opportunity to better understand genetic variation associated with complex traits. Here, we performed an association study for traits related to body size and muscular development in intensively selected beef cattle. We leveraged multiple trait information to refine and interpret the significant associations. After a multiple-step genotype imputation to the sequence-level for 14,762 Belgian Blue beef (BBB) cows, we performed a genome-wide association study (GWAS) for 11 traits related to muscular development and body size. The 37 identified genome-wide significant quantitative trait loci (QTL) could be condensed in 11 unique QTL regions based on their position. Evidence for pleiotropic effects was found in most of these regions (e.g., correlated association signals, overlap between credible sets (CS) of candidate variants). Thus, we applied a multiple-trait approach to combine information from different traits to refine the CS. In several QTL regions, we identified strong candidate genes known to be related to growth and height in other species such as LCORL-NCAPG or CCND2. For some of these genes, relevant candidate variants were identified in the CS, including three new missense variants in EZH2, PAPPA2 and ADAM12, possibly two additional coding variants in LCORL, and candidate regulatory variants linked to CCND2 and ARMC12. Strikingly, four other QTL regions associated with dimension or muscular development traits were related to five (recessive) deleterious coding variants previously identified. Our study further supports that a set of common genes controls body size across mammalian species. In particular, we added new genes to the list of those associated with height in both humans and cattle. We also identified new strong candidate causal variants in some of these genes, strengthening the evidence of their causality. Several breed-specific recessive deleterious variants were identified in our QTL regions, probably as a result of the extreme selection for muscular development in BBB cattle.
为基因组选择程序进行基因分型和表型分型的个体队列为更好地理解与复杂性状相关的遗传变异提供了机会。在这里,我们对精选肉牛的体型和肌肉发育相关性状进行了关联研究。我们利用多个性状信息来提炼和解释显著的关联。在对14,762头比利时蓝牛肉(BBB)奶牛进行多步基因型插入到序列水平后,我们对与肌肉发育和体型相关的11个性状进行了全基因组关联研究(GWAS)。经鉴定的37个全基因组显著数量性状位点(QTL)根据其位置可浓缩为11个独特的QTL区域。在大多数这些区域发现了多效效应的证据(例如,相关关联信号,候选变异可信集(CS)之间的重叠)。因此,我们采用多性状方法结合不同性状的信息来完善CS。在几个QTL区域,我们发现了与其他物种的生长和身高相关的强候选基因,如LCORL-NCAPG或CCND2。对于其中一些基因,在CS中发现了相关的候选变异,包括EZH2、PAPPA2和ADAM12中三个新的错义变异,LCORL中可能还有两个额外的编码变异,以及与CCND2和ARMC12相关的候选调节变异。引人注目的是,与尺寸或肌肉发育特征相关的其他四个QTL区域与先前发现的五种(隐性)有害编码变体相关。我们的研究进一步支持了一组共同的基因控制着哺乳动物物种的体型。特别是,我们在人类和牛的身高相关基因列表中添加了新的基因。我们还在其中一些基因中发现了新的强有力的候选因果变异,加强了它们因果关系的证据。在我们的QTL区域发现了几个品种特异性的隐性有害变异,这可能是BBB牛肌肉发育的极端选择的结果。
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引用次数: 0
Heterogeneity in convergence behaviour of the single-step SNP-BLUP model across different effects and animal groups 单步SNP-BLUP模型在不同效应和动物组间收敛行为的异质性
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-11-23 DOI: 10.1186/s12711-023-00856-5
Dawid Słomian, Kacper Żukowski, Joanna Szyda
The single-step model is becoming increasingly popular for national genetic evaluations of dairy cattle due to the benefits that it offers such as joint breeding value estimation for genotyped and ungenotyped animals. However, the complexity of the model due to a large number of correlated effects can lead to significant computational challenges, especially in terms of accuracy and efficiency of the preconditioned conjugate gradient method used for the estimation. The aim of this study was to investigate the effect of pedigree depth on the model's overall convergence rate as well as on the convergence of different components of the model, in the context of the single-step single nucleotide polymorphism best linear unbiased prediction (SNP-BLUP) model. The results demonstrate that the dataset with a truncated pedigree converged twice as fast as the full dataset. Still, both datasets showed very high Pearson correlations between predicted breeding values. In addition, by comparing the top 50 bulls between the two datasets we found a high correlation between their rankings. We also analysed the specific convergence patterns underlying different animal groups and model effects, which revealed heterogeneity in convergence behaviour. Effects of SNPs converged the fastest while those of genetic groups converged the slowest, which reflects the difference in information content available in the dataset for those effects. Pre-selection criteria for the SNP set based on minor allele frequency had no impact on either the rate or pattern of their convergence. Among different groups of individuals, genotyped animals with phenotype data converged the fastest, while non-genotyped animals without own records required the largest number of iterations. We conclude that pedigree structure markedly impacts the convergence rate of the optimisation which is more efficient for the truncated than for the full dataset.
单步模型在奶牛的国家遗传评估中越来越受欢迎,因为它提供了诸如基因型和非基因型动物的联合育种价值估计等好处。然而,由于大量的相关效应,模型的复杂性会导致显著的计算挑战,特别是在用于估计的预条件共轭梯度方法的准确性和效率方面。本研究的目的是在单步单核苷酸多态性最佳线性无偏预测(SNP-BLUP)模型的背景下,研究谱系深度对模型总体收敛速度的影响,以及对模型不同组成部分收敛速度的影响。结果表明,截断谱系的数据集收敛速度是完整数据集的两倍。尽管如此,两个数据集都显示了预测育种值之间非常高的Pearson相关性。此外,通过比较两个数据集之间的前50名公牛,我们发现它们的排名之间存在高度相关性。我们还分析了不同动物群体的特定趋同模式和模型效应,揭示了趋同行为的异质性。snp的效应收敛最快,而遗传群体的效应收敛最慢,这反映了这些效应在数据集中可用的信息内容的差异。基于小等位基因频率的SNP集的预选标准对其趋同的速率或模式没有影响。在不同的个体群体中,具有表型数据的基因型动物收敛速度最快,而没有自己记录的非基因型动物迭代次数最多。我们得出结论,谱系结构显著影响优化的收敛速度,对于截断的数据集比完整的数据集更有效。
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引用次数: 0
Defining valid breeding goals for animal breeds. 确定动物品种的有效繁殖目标。
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-11-21 DOI: 10.1186/s12711-023-00855-6
Robin Wellmann, Nicolas Gengler, Jörn Bennewitz, Jens Tetens

Background: The objective of any valid breeding program is to increase the suitability of a breed for its future purposes. The approach most often followed in animal breeding for optimizing breeding goals assumes that the sole desire of the owners is profit maximization. As this assumption is often violated, a generalized approach is needed that does not rely on this assumption.

Results: The generalized approach is based on the niche concept. The niche of a breed is a set of environments in which a small population of the breed would have a positive population growth rate. Its growth rate depends on demand from prospective consumers and supply from producers. The approach involves defining the niche that is envisaged for the breed and identifying the trait optima that maximize the breed's adaptation to its envisaged niche within the set of permissible breeding goals. The set of permissible breeding goals is the set of all potential breeding goals that are compatible with animal welfare and could be reached within the planning horizon of the breeding program. In general, the breed's adaptation depends on the satisfaction of the producers with the animals and on the satisfaction of the consumers with the products produced by the animals. When consumers buy live animals, then the breed needs to adapt to both the environments provided by the producers, and the environments provided by the consumers. The profit function is replaced by a more general adaptedness function that measures the breed's adaptation to its envisaged niche.

Conclusions: The proposed approach coincides with the traditional approach if the producers have the sole desire to maximize their income, and if consumer preferences are well reflected by the product prices. If these assumptions are not met, then the traditional approach to breeding goal optimization is unlikely to result in a valid breeding goal. Using the example of companion breeds, this paper shows that the proposed approach has the potential to fill the gap.

背景:任何有效的育种计划的目标都是增加品种对其未来用途的适用性。在动物育种中,最常采用的优化育种目标的方法是假设所有者的唯一愿望是利润最大化。由于这一假设经常被违反,因此需要一种不依赖于这一假设的通用方法。结果:基于生态位概念的广义方法。一个品种的生态位是一组环境,在这些环境中,该品种的一小部分种群会有正的种群增长率。其增长率取决于潜在消费者的需求和生产商的供应。该方法包括确定品种设想的生态位,并确定在允许的育种目标范围内最大限度地提高品种适应其设想生态位的最佳性状。允许的繁殖目标集是所有潜在的繁殖目标的集合,这些目标与动物福利相容,并且可以在繁殖计划的规划范围内达到。一般来说,品种的适应性取决于生产者对动物的满意程度和消费者对动物生产的产品的满意程度。当消费者购买活体动物时,这个品种需要适应生产者提供的环境,也需要适应消费者提供的环境。利润函数被更普遍的适应性函数所取代,该函数衡量品种对其设想的生态位的适应性。结论:如果生产者唯一的愿望是最大化他们的收入,如果消费者的偏好很好地反映在产品价格上,那么所提出的方法与传统方法是一致的。如果这些假设不满足,那么传统的育种目标优化方法就不太可能产生有效的育种目标。以伴侣品种为例,本文表明所提出的方法有可能填补这一空白。
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引用次数: 0
Unravelling the genetic variability of host resilience to endo- and ectoparasites in Nellore commercial herds. 揭示内洛尔商业畜群中宿主对内寄生虫和外寄生虫恢复力的遗传变异。
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2023-11-21 DOI: 10.1186/s12711-023-00844-9
Gabriela Canabrava Gouveia, Virgínia Mara Pereira Ribeiro, Marina Rufino Salinas Fortes, Fernanda Santos Silva Raidan, Antonio Reverter, Laercio Ribeiro Porto-Neto, Mariana Mamedes de Moraes, Daniel Resende Gonçalves, Marcos Vinicius Gualberto Barbosa da Silva, Fabio Luiz Buranelo Toral

Background: Host resilience (HR) to parasites can affect the performance of animals. Therefore, the aim of this study was to present a detailed investigation of the genetic mechanisms of HR to ticks (TICK), gastrointestinal nematodes (GIN), and Eimeria spp. (EIM) in Nellore cattle that were raised under natural infestation and a prophylactic parasite control strategy. In our study, HR was defined as the slope coefficient of body weight (BW) when TICK, GIN, and EIM burdens were used as environmental gradients in random regression models. In total, 1712 animals were evaluated at five measurement events (ME) at an average age of 331, 385, 443, 498, and 555 days, which generated 7307 body weight (BW) records. Of the 1712 animals, 1075 genotyped animals were used in genome-wide association studies to identify genomic regions associated with HR.

Results: Posterior means of the heritability estimates for BW ranged from 0.09 to 0.54 across parasites and ME. The single nucleotide polymorphism (SNP)-derived heritability for BW at each ME ranged from a low (0.09 at ME.331) to a moderate value (0.23 at ME.555). Those estimates show that genetic progress can be achieved for BW through selection. Both genetic and genomic associations between BW and HR to TICK, GIN, and EIM confirmed that parasite infestation impacted the performance of animals. Selection for BW under an environment with a controlled parasite burden is an alternative to improve both, BW and HR. There was no impact of age of measurement on the estimates of genetic variance for HR. Five quantitative trait loci (QTL) were associated with HR to EIM but none with HR to TICK and to GIN. These QTL contain genes that were previously shown to be associated with the production of antibody modulators and chemokines that are released in the intestinal epithelium.

Conclusions: Selection for BW under natural infestation and controlled parasite burden, via prophylactic parasite control, contributes to the identification of animals that are resilient to nematodes and Eimeria ssp. Although we verified that sufficient genetic variation existed for HR, we did not find any genes associated with mechanisms that could justify the expression of HR to TICK and GIN.

背景:寄主对寄生虫的抵抗力会影响动物的生产性能。因此,本研究的目的是详细研究在自然侵染和寄生虫预防控制策略下饲养的Nellore牛的HR对蜱虫(TICK)、胃肠道线虫(GIN)和艾美耳虫(EIM)的遗传机制。在我们的研究中,HR被定义为在随机回归模型中以TICK、GIN和EIM负荷作为环境梯度时体重(BW)的斜率系数。共有1712只动物在平均年龄为331、385、443、498和555日龄的5个测量事件(ME)中进行了评估,共产生了7307个体重(BW)记录。在这1712只动物中,1075只基因分型动物被用于全基因组关联研究,以确定与HR相关的基因组区域。结果:寄生虫和ME体重遗传力估计的后验均值在0.09 ~ 0.54之间。单核苷酸多态性(SNP)衍生的遗传力在不同代谢能下从低(0.09,ME.331)到中等(0.23,ME.555)不等。这些估计表明,体重的遗传进展可以通过选择来实现。体重和HR与TICK、GIN和EIM之间的遗传和基因组关联证实,寄生虫侵染会影响动物的生产性能。在寄生虫负担得到控制的环境下选择体重是提高体重和心率的另一种选择。测量年龄对HR遗传方差的估计没有影响。有5个数量性状位点(QTL)与HR - EIM相关,但与HR - TICK和GIN无关。这些QTL包含的基因先前被证明与在肠上皮中释放的抗体调节剂和趋化因子的产生有关。结论:通过预防性寄生虫控制,选择自然侵染条件下的BW,有助于鉴定对线虫和艾美耳球虫具有抗性的动物。虽然我们证实了HR存在足够的遗传变异,但我们没有发现任何与机制相关的基因可以证明HR对TICK和GIN的表达。
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引用次数: 0
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Genetics Selection Evolution
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