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Meta-analysis of six dairy cattle breeds reveals biologically relevant candidate genes for mastitis resistance 对六个奶牛品种的元分析揭示了抗乳腺炎的生物相关候选基因
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-07-15 DOI: 10.1186/s12711-024-00920-8
Zexi Cai, Terhi Iso-Touru, Marie-Pierre Sanchez, Naveen Kadri, Aniek C. Bouwman, Praveen Krishna Chitneedi, Iona M. MacLeod, Christy J. Vander Jagt, Amanda J. Chamberlain, Birgit Gredler-Grandl, Mirjam Spengeler, Mogens Sandø Lund, Didier Boichard, Christa Kühn, Hubert Pausch, Johanna Vilkki, Goutam Sahana
Mastitis is a disease that incurs significant costs in the dairy industry. A promising approach to mitigate its negative effects is to genetically improve the resistance of dairy cattle to mastitis. A meta-analysis of genome-wide association studies (GWAS) across multiple breeds for clinical mastitis (CM) and its indicator trait, somatic cell score (SCS), is a powerful method to identify functional genetic variants that impact mastitis resistance. We conducted meta-analyses of eight and fourteen GWAS on CM and SCS, respectively, using 30,689 and 119,438 animals from six dairy cattle breeds. Methods for the meta-analyses were selected to properly account for the multi-breed structure of the GWAS data. Our study revealed 58 lead markers that were associated with mastitis incidence, including 16 loci that did not overlap with previously identified quantitative trait loci (QTL), as curated at the Animal QTLdb. Post-GWAS analysis techniques such as gene-based analysis and genomic feature enrichment analysis enabled prioritization of 31 candidate genes and 14 credible candidate causal variants that affect mastitis. Our list of candidate genes can help to elucidate the genetic architecture underlying mastitis resistance and provide better tools for the prevention or treatment of mastitis, ultimately contributing to more sustainable animal production.
乳腺炎是一种给奶牛业带来巨大损失的疾病。从基因上提高奶牛对乳腺炎的抵抗力是减轻其负面影响的一种可行方法。对多个品种的临床乳腺炎(CM)及其指示性状体细胞评分(SCS)的全基因组关联研究(GWAS)进行荟萃分析,是确定影响乳腺炎抵抗力的功能性遗传变异的有力方法。我们利用来自六个奶牛品种的 30,689 头和 119,438 头动物,分别对八个和十四个有关 CM 和 SCS 的 GWAS 进行了荟萃分析。荟萃分析方法的选择适当考虑了 GWAS 数据的多品种结构。我们的研究揭示了与乳腺炎发病率相关的 58 个先导标记,其中包括 16 个与动物 QTLdb 上的先前确定的数量性状位点 (QTL) 不重叠的位点。基于基因的分析和基因组特征富集分析等 GWAS 后分析技术确定了影响乳腺炎的 31 个候选基因和 14 个可信的候选因果变异的优先次序。我们的候选基因列表有助于阐明乳腺炎抗性的遗传结构,并为乳腺炎的预防或治疗提供更好的工具,最终促进更可持续的动物生产。
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引用次数: 0
Using high-density SNP data to unravel the origin of the Franches-Montagnes horse breed 利用高密度 SNP 数据揭示 Franches-Montagnes 马品种的起源
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-07-10 DOI: 10.1186/s12711-024-00922-6
Annik Imogen Gmel, Sofia Mikko, Anne Ricard, Brandon D. Velie, Vinzenz Gerber, Natasha Anne Hamilton, Markus Neuditschko
The Franches-Montagnes (FM) is the last native horse breed of Switzerland, established at the end of the 19th century by cross-breeding local mares with Anglo-Norman stallions. We collected high-density SNP genotype data (Axiom™ 670 K Equine genotyping array) from 522 FM horses, including 44 old-type horses (OF), 514 European Warmblood horses (WB) from Sweden and Switzerland (including a stallion used for cross-breeding in 1990), 136 purebred Arabians (AR), 32 Shagya Arabians (SA), and 64 Thoroughbred (TB) horses, as introgressed WB stallions showed TB origin in their pedigrees. The aim of the study was to ascertain fine-scale population structures of the FM breed, including estimation of individual admixture levels and genomic inbreeding (FROH) by means of Runs of Homozygosity. To assess fine-scale population structures within the FM breed, we applied a three-step approach, which combined admixture, genetic contribution, and FROH of individuals into a high-resolution network visualization. Based on this approach, we were able to demonstrate that population substructures, as detected by model-based clustering, can be either associated with a different genetic origin or with the progeny of most influential sires. Within the FM breed, admixed horses explained most of the genetic variance of the current breeding population, while OF horses only accounted for a small proportion of the variance. Furthermore, we illustrated that FM horses showed high TB admixture levels and we identified inconsistencies in the origin of FM horses descending from the Arabian stallion Doktryner. With the exception of WB, FM horses were less inbred compared to the other breeds. However, the relatively few but long ROH segments suggested diversity loss in both FM subpopulations. Genes located in FM- and OF-specific ROH islands had known functions involved in conformation and behaviour, two traits that are highly valued by breeders. The FM remains the last native Swiss breed, clearly distinguishable from other historically introgressed breeds, but it suffered bottlenecks due to intensive selection of stallions, restrictive mating choices based on arbitrary definitions of pure breeding, and selection of rare coat colours. To preserve the genetic diversity of FM horses, future conservation managements strategies should involve a well-balanced selection of stallions (e.g., by integrating OF stallions in the FM breeding population) and avoid selection for rare coat colours.
Franches-Montagnes(FM)是瑞士最后一个本土马种,于 19 世纪末由当地母马与盎格鲁-诺曼公马杂交而成。我们收集了 522 匹 FM 马的高密度 SNP 基因型数据(Axiom™ 670 K 马基因分型阵列),其中包括 44 匹老式马 (OF)、514 匹来自瑞典和瑞士的欧洲温血马 (WB)(包括一匹 1990 年用于杂交的种公马)、136 匹纯种阿拉伯马 (AR)、32 匹沙加阿拉伯马 (SA) 和 64 匹纯血马 (TB),因为引入的 WB 种公马在其血统中显示为纯血马。该研究的目的是确定调频马品种的精细种群结构,包括通过同源杂合度(Runs of Homozygosity)估算个体混血水平和基因组近亲繁殖(FROH)。为了评估调频种群的精细种群结构,我们采用了一种三步法,将个体的掺杂、遗传贡献和FROH结合到一个高分辨率的可视化网络中。基于这种方法,我们能够证明,通过基于模型的聚类所发现的种群亚结构,要么与不同的遗传起源有关,要么与最有影响力的父亲的后代有关。在调频马品种中,掺杂马解释了当前育种群体的大部分遗传变异,而OF马只占变异的一小部分。此外,我们还发现调频马显示出较高的结核病掺杂水平,并发现阿拉伯种马Doktryner的后代在调频马的起源上存在不一致。与其他马种相比,除WB马外,调频马的近亲繁殖程度较低。然而,相对较少但较长的ROH片段表明两个调频马亚种群的多样性都有所丧失。位于FM和OF特异性ROH岛的基因具有与体形和行为有关的已知功能,而这两种性状是育种者非常看重的。FM仍是瑞士最后一个本土品种,与其他历史上引入的品种有明显区别,但由于对种马的密集选择、基于纯种定义的限制性交配选择以及对稀有毛色的选择,FM遭遇了瓶颈。为保护调频马的遗传多样性,未来的保护管理策略应包括对种马的均衡选择(例如,将 OF 种马纳入调频马繁殖种群),并避免选择稀有毛色。
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引用次数: 0
Genetic and genomic analysis of Belgian Blue's susceptibility for psoroptic mange. 比利时蓝犬对疥癣病易感性的遗传和基因组分析。
IF 3.6 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-07-05 DOI: 10.1186/s12711-024-00921-7
Roel Meyermans, Steven Janssens, Annelies Coussé, Susanne Tinel, Wim Gorssen, Fabrice Lepot, Xavier Hubin, Patrick Mayeres, Wim Veulemans, Nathalie De Wilde, Tom Druet, Michel Georges, Carole Charlier, Edwin Claerebout, Nadine Buys

Background: Psoroptic mange, caused by Psoroptes ovis mites, is affecting Belgian Blue cattle's welfare and production potential. The Belgian Blue cattle-known for its high degree of muscling, low feed conversion ratio and high beef quality-is highly susceptible for this disease.

Results: In this study, we phenotyped 1975 Belgian Blue cattle from more than 100 different groups on commercial beef farms for their psoroptic mange susceptibility. Substantial individual differences were observed within these management groups, with lesion extent differences up to ± 15%. Animal models showed that estimated heritabilities were low for lesion extent and severe lesion extent (0.07 and 0.09, respectively) and 0.12 for the number of mites. A genome wide association study for mange susceptibility revealed signals on BTA6, BTA11, BTA15 and BTA24. In these regions, candidate genes GBA3, RAG2, and TRAF6 were identified.

Conclusions: Despite the challenges in phenotyping for psoroptic mange due to the timing of screening, the continuous evolution of lesions and different management conditions, we successfully conducted a study on the genetic susceptibility to psoroptic mange in Belgian Blue cattle. Our results clearly indicate that psoroptic mange is under polygenic control and the underlying candidate genes should be studied more thoroughly. This is the first study providing candidate genes for this complex disease. These results are already valuable for Belgian Blue breeding, however, further research is needed to unravel the architecture of this disease and to identify causal mutations.

背景:由猫鼬螨引起的疥癣病正在影响比利时蓝牛的福利和生产潜力。比利时蓝牛以肌肉发达、饲料转化率低和牛肉品质高而著称,极易感染这种疾病:在这项研究中,我们对来自商业化肉牛养殖场 100 多个不同群体的 1975 头比利时蓝牛进行了表型分析,以确定它们对疥癣病的易感性。在这些管理组中观察到了巨大的个体差异,病变程度差异高达 ± 15%。动物模型显示,皮损范围和严重皮损范围的估计遗传率较低(分别为 0.07 和 0.09),螨虫数量的估计遗传率为 0.12。一项关于疥癣易感性的全基因组关联研究发现了 BTA6、BTA11、BTA15 和 BTA24 上的信号。在这些区域,发现了候选基因 GBA3、RAG2 和 TRAF6:尽管由于筛查的时间、病变的持续演变和不同的管理条件等原因,在对牛疥癣进行表型分析时遇到了挑战,但我们还是成功地对比利时蓝牛的牛疥癣遗传易感性进行了研究。我们的研究结果清楚地表明,疥癣病是由多基因控制的,因此应该对潜在的候选基因进行更深入的研究。这是首次为这种复杂疾病提供候选基因的研究。这些结果对于比利时蓝牛的育种已经很有价值,但是还需要进一步的研究来揭示这种疾病的结构并确定致病突变。
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引用次数: 0
The black honey bee genome: insights on specific structural elements and a first step towards pangenomes 黑蜜蜂基因组:对特定结构元素的认识和向庞基因组迈出的第一步
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-06-28 DOI: 10.1186/s12711-024-00917-3
Sonia E. Eynard, Christophe Klopp, Kamila Canale-Tabet, William Marande, Céline Vandecasteele, Céline Roques, Cécile Donnadieu, Quentin Boone, Bertrand Servin, Alain Vignal
The honey bee reference genome, HAv3.1, was produced from a commercial line sample that was thought to have a largely dominant Apis mellifera ligustica genetic background. Apis mellifera mellifera, often referred to as the black bee, has a separate evolutionary history and is the original type in western and northern Europe. Growing interest in this subspecies for conservation and non-professional apicultural practices, together with the necessity of deciphering genome backgrounds in hybrids, triggered the necessity for a specific genome assembly. Moreover, having several high-quality genomes is becoming key for taking structural variations into account in pangenome analyses. Pacific Bioscience technology long reads were produced from a single haploid black bee drone. Scaffolding contigs into chromosomes was done using a high-density genetic map. This allowed for re-estimation of the recombination rate, which was over-estimated in some previous studies due to mis-assemblies, which resulted in spurious inversions in the older reference genomes. The sequence continuity obtained was very high and the only limit towards continuous chromosome-wide sequences seemed to be due to tandem repeat arrays that were usually longer than 10 kb and that belonged to two main families, the 371 and 91 bp repeats, causing problems in the assembly process due to high internal sequence similarity. Our assembly was used together with the reference genome to genotype two structural variants by a pangenome graph approach with Graphtyper2. Genotypes obtained were either correct or missing, when compared to an approach based on sequencing depth analysis, and genotyping rates were 89 and 76% for the two variants. Our new assembly for the Apis mellifera mellifera honey bee subspecies demonstrates the utility of multiple high-quality genomes for the genotyping of structural variants, with a test case on two insertions and deletions. It will therefore be an invaluable resource for future studies, for instance by including structural variants in GWAS. Having used a single haploid drone for sequencing allowed a refined analysis of very large tandem repeat arrays, raising the question of their function in the genome. High quality genome assemblies for multiple subspecies such as presented here, are crucial for emerging projects using pangenomes.
蜜蜂参考基因组HAv3.1是由一个商业品系样本产生的,该品系样本被认为主要具有Apis mellifera ligustica的显性遗传背景。Apis mellifera mellifera 通常被称为黑蜂,具有独立的进化历史,是西欧和北欧的原始蜂种。人们对这一亚种的保护和非专业养蜂实践的兴趣与日俱增,加上破译杂交种基因组背景的必要性,促使人们必须进行特定的基因组组装。此外,拥有多个高质量基因组已成为在庞基因组分析中考虑结构变异的关键。太平洋生物科学技术公司从单倍体黑蜂无人蜂中获得了长读数。利用高密度遗传图谱将等位基因拼接成染色体。这样就可以重新估计重组率,在以前的一些研究中,重组率被高估,原因是错误的组装导致了旧参考基因组中的假倒位。获得的序列连续性非常高,连续的全染色体序列的唯一限制似乎是串联重复序列,这些序列通常长于 10 kb,属于两个主要家族,即 371 和 91 bp 重复序列,由于内部序列高度相似,在组装过程中造成了问题。通过使用 Graphtyper2 的庞基因组图谱方法,我们将组装结果与参考基因组一起用于对两个结构变异体进行基因分型。与基于测序深度分析的方法相比,获得的基因型要么正确要么缺失,两个变体的基因分型率分别为 89% 和 76%。我们为蜜蜂亚种Apis mellifera mellifera所做的新组装证明了多个高质量基因组对结构变异基因分型的实用性,并对两个插入和缺失进行了测试。因此,它将成为未来研究的宝贵资源,例如将结构变异纳入全球基因组分析中。使用单倍体无人机进行测序后,可以对超大串联重复阵列进行精细分析,从而提出它们在基因组中的功能问题。高质量的多亚种基因组组装(如本文所展示的)对于使用鲮鱼基因组的新兴项目至关重要。
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引用次数: 0
Allele-specific binding variants causing ChIP-seq peak height of histone modification are not enriched in expression QTL annotations 导致组蛋白修饰 ChIP-seq 峰高的等位基因特异性结合变体在表达 QTL 注释中并不富集
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-06-27 DOI: 10.1186/s12711-024-00916-4
Mohammad Ghoreishifar, Amanda J. Chamberlain, Ruidong Xiang, Claire P. Prowse-Wilkins, Thomas J. Lopdell, Mathew D. Littlejohn, Jennie E. Pryce, Michael E. Goddard
Genome sequence variants affecting complex traits (quantitative trait loci, QTL) are enriched in functional regions of the genome, such as those marked by certain histone modifications. These variants are believed to influence gene expression. However, due to the linkage disequilibrium among nearby variants, pinpointing the precise location of QTL is challenging. We aimed to identify allele-specific binding (ASB) QTL (asbQTL) that cause variation in the level of histone modification, as measured by the height of peaks assayed by ChIP-seq (chromatin immunoprecipitation sequencing). We identified DNA sequences that predict the difference between alleles in ChIP-seq peak height in H3K4me3 and H3K27ac histone modifications in the mammary glands of cows. We used a gapped k-mer support vector machine, a novel best linear unbiased prediction model, and a multiple linear regression model that combines the other two approaches to predict variant impacts on peak height. For each method, a subset of 1000 sites with the highest magnitude of predicted ASB was considered as candidate asbQTL. The accuracy of this prediction was measured by the proportion where the predicted direction matched the observed direction. Prediction accuracy ranged between 0.59 and 0.74, suggesting that these 1000 sites are enriched for asbQTL. Using independent data, we investigated functional enrichment in the candidate asbQTL set and three control groups, including non-causal ASB sites, non-ASB variants under a peak, and SNPs (single nucleotide polymorphisms) not under a peak. For H3K4me3, a higher proportion of the candidate asbQTL were confirmed as ASB when compared to the non-causal ASB sites (P < 0.01). However, these candidate asbQTL did not enrich for the other annotations, including expression QTL (eQTL), allele-specific expression QTL (aseQTL) and sites conserved across mammals (P > 0.05). We identified putatively causal sites for asbQTL using the DNA sequence surrounding these sites. Our results suggest that many sites influencing histone modifications may not directly affect gene expression. However, it is important to acknowledge that distinguishing between putative causal ASB sites and other non-causal ASB sites in high linkage disequilibrium with the causal sites regarding their impact on gene expression may be challenging due to limitations in statistical power.
影响复杂性状(数量性状位点,QTL)的基因组序列变异富集在基因组的功能区域,如那些以某些组蛋白修饰为标志的区域。这些变异被认为会影响基因表达。然而,由于附近变体之间存在连锁不平衡,精确定位 QTL 具有挑战性。我们的目标是鉴定导致组蛋白修饰水平变异的等位基因特异性结合(ASB)QTL(asbQTL),组蛋白修饰水平是通过 ChIP-seq(染色质免疫沉淀测序)测定的峰高来衡量的。我们确定了能预测奶牛乳腺中 H3K4me3 和 H3K27ac 组蛋白修饰 ChIP-seq 峰高等位基因差异的 DNA 序列。我们使用了间隙 k-mer 支持向量机、新型最佳线性无偏预测模型以及结合了其他两种方法的多元线性回归模型来预测变异对峰高的影响。每种方法都将预测 ASB 值最高的 1000 个位点子集视为候选 asbQTL。这种预测的准确性是通过预测方向与观测方向相吻合的比例来衡量的。预测准确率介于 0.59 和 0.74 之间,表明这 1000 个位点富含 asbQTL。利用独立数据,我们调查了候选asbQTL集和三个对照组的功能富集情况,包括非因果关系的ASB位点、峰值下的非ASB变异和非峰值下的SNP(单核苷酸多态性)。就 H3K4me3 而言,与非因果关系的 ASB 位点相比,候选 asbQTL 被确认为 ASB 的比例更高(P 0.05)。我们利用这些位点周围的 DNA 序列确定了 asbQTL 的假定因果位点。我们的结果表明,许多影响组蛋白修饰的位点可能不会直接影响基因表达。然而,必须承认的是,由于统计能力的限制,区分假定的因果ASB位点和与因果位点高度连锁不平衡的其他非因果ASB位点对基因表达的影响可能具有挑战性。
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引用次数: 0
Predictive ability of multi-population genomic prediction methods of phenotypes for reproduction traits in Chinese and Austrian pigs 中国猪和奥地利猪繁殖性状表型的多群体基因组预测方法的预测能力
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-06-26 DOI: 10.1186/s12711-024-00915-5
Xue Wang, Zipeng Zhang, Hehe Du, Christina Pfeiffer, Gábor Mészáros, Xiangdong Ding
Multi-population genomic prediction can rapidly expand the size of the reference population and improve genomic prediction ability. Machine learning (ML) algorithms have shown advantages in single-population genomic prediction of phenotypes. However, few studies have explored the effectiveness of ML methods for multi-population genomic prediction. In this study, 3720 Yorkshire pigs from Austria and four breeding farms in China were used, and single-trait genomic best linear unbiased prediction (ST-GBLUP), multitrait GBLUP (MT-GBLUP), Bayesian Horseshoe (BayesHE), and three ML methods (support vector regression (SVR), kernel ridge regression (KRR) and AdaBoost.R2) were compared to explore the optimal method for joint genomic prediction of phenotypes of Chinese and Austrian pigs through 10 replicates of fivefold cross-validation. In this study, we tested the performance of different methods in two scenarios: (i) including only one Austrian population and one Chinese pig population that were genetically linked based on principal component analysis (PCA) (designated as the “two-population scenario”) and (ii) adding reference populations that are unrelated based on PCA to the above two populations (designated as the “multi-population scenario”). Our results show that, the use of MT-GBLUP in the two-population scenario resulted in an improvement of 7.1% in predictive ability compared to ST-GBLUP, while the use of SVR and KKR yielded improvements in predictive ability of 4.5 and 5.3%, respectively, compared to MT-GBLUP. SVR and KRR also yielded lower mean square errors (MSE) in most population and trait combinations. In the multi-population scenario, improvements in predictive ability of 29.7, 24.4 and 11.1% were obtained compared to ST-GBLUP when using, respectively, SVR, KRR, and AdaBoost.R2. However, compared to MT-GBLUP, the potential of ML methods to improve predictive ability was not demonstrated. Our study demonstrates that ML algorithms can achieve better prediction performance than multitrait GBLUP models in multi-population genomic prediction of phenotypes when the populations have similar genetic backgrounds; however, when reference populations that are unrelated based on PCA are added, the ML methods did not show a benefit. When the number of populations increased, only MT-GBLUP improved predictive ability in both validation populations, while the other methods showed improvement in only one population.
多群体基因组预测可以迅速扩大参考群体的规模,提高基因组预测能力。机器学习(ML)算法在表型的单种群基因组预测中已显示出优势。然而,很少有研究探讨 ML 方法在多种群基因组预测中的有效性。本研究以奥地利和中国四个种猪场的 3720 头约克夏猪为研究对象,采用单性状基因组最佳线性无偏预测法(ST-GBLUP)、多性状 GBLUP 法(MT-GBLUP)、贝叶斯马蹄法(BayesHE)和三种 ML 方法(支持向量回归法(SVR)、核岭回归法(KRR)和 AdaBoost.R2)进行了比较,通过 10 个重复的五重交叉验证,探索出了中国猪和奥地利猪表型联合基因组预测的最佳方法。在这项研究中,我们在两种情况下测试了不同方法的性能:(i) 仅包括一个奥地利种群和一个中国猪种群,根据主成分分析(PCA),这两个种群在基因上有联系(称为 "双种群情景");(ii) 在上述两个种群的基础上增加根据 PCA 分析不相关的参考种群(称为 "多种群情景")。我们的结果表明,与 ST-GBLUP 相比,在双种群方案中使用 MT-GBLUP 可使预测能力提高 7.1%,而与 MT-GBLUP 相比,使用 SVR 和 KKR 可使预测能力分别提高 4.5% 和 5.3%。在大多数种群和性状组合中,SVR 和 KRR 的均方误差(MSE)也较低。在多种群情况下,使用 SVR、KRR 和 AdaBoost.R2 与 ST-GBLUP 相比,预测能力分别提高了 29.7%、24.4% 和 11.1%。不过,与 MT-GBLUP 相比,ML 方法在提高预测能力方面的潜力并未得到证实。我们的研究表明,在多种群基因组表型预测中,当种群具有相似的遗传背景时,ML 算法能比多特征 GBLUP 模型获得更好的预测性能;但是,当根据 PCA 加入不相关的参考种群时,ML 方法并没有显示出优势。当种群数量增加时,只有 MT-GBLUP 提高了两个验证种群的预测能力,而其他方法只提高了一个种群的预测能力。
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引用次数: 0
Breeding for resilience in finishing pigs can decrease tail biting, lameness and mortality 培育育成猪的抗逆性可减少咬尾、跛足和死亡率
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-06-20 DOI: 10.1186/s12711-024-00919-1
Wim Gorssen, Carmen Winters, Roel Meyermans, Léa Chapard, Katrijn Hooyberghs, Jürgen Depuydt, Steven Janssens, Han Mulder, Nadine Buys
Previous research showed that deviations in longitudinal data are heritable and can be used as a proxy for pigs’ general resilience. However, only a few studies investigated the relationship between these resilience traits and other traits related to resilience and welfare. Therefore, this study investigated the relationship between resilience traits derived from deviations in longitudinal data and traits related to animal resilience, health and welfare, such as tail and ear biting wounds, lameness and mortality. In our experiment, 1919 finishing pigs with known pedigree (133 Piétrain sires and 266 crossbred dams) were weighed every 2 weeks and scored for physical abnormalities, such as lameness and ear and tail biting wounds (17,066 records). Resilience was assessed via deviations in body weight, deviations in weighing order and deviations in observed activity during weighing. The association between these resilience traits and physical abnormality traits was investigated and genetic parameters were estimated. Deviations in body weight had moderate heritability estimates (h2 = 25.2 to 36.3%), whereas deviations in weighing order (h2 = 4.2%) and deviations in activity during weighing (h2 = 12.0%) had low heritability estimates. Moreover, deviations in body weight were positively associated and genetically correlated with tail biting wounds (rg = 0.22 to 0.30), lameness (rg = 0.15 to 0.31) and mortality (rg = 0.19 to 0.33). These results indicate that events of tail biting, lameness and mortality are associated with deviations in pigs’ body weight evolution. This relationship was not found for deviations in weighing order and activity during weighing. Furthermore, individual body weight deviations were positively correlated with uniformity at the pen level, providing evidence that breeding for these resilience traits might increase both pigs’ resilience and within-family uniformity. In summary, our findings show that breeding for resilience traits based on deviations in longitudinal weight data can decrease pigs’ tail biting wounds, lameness and mortality while improving uniformity at the pen level. These findings are valuable for pig breeders, as they offer evidence that these resilience traits are an indication of animals’ general health, welfare and resilience. Moreover, these results will stimulate the quantification of resilience via longitudinal body weights in other species.
以往的研究表明,纵向数据中的偏差具有遗传性,可作为猪的一般抗逆性的代表。然而,只有少数研究调查了这些恢复力特征与其他与恢复力和福利相关的特征之间的关系。因此,本研究调查了从纵向数据偏差中得出的恢复力性状与动物恢复力、健康和福利相关性状(如咬尾和咬耳伤、跛足和死亡率)之间的关系。在我们的实验中,我们每两周对 1919 头已知血统的育成猪(133 头皮耶特兰公猪和 266 头杂交母猪)进行称重,并对跛行、咬耳和咬尾伤口等身体异常情况进行评分(17066 条记录)。通过体重偏差、称重顺序偏差和称重时观察到的活动偏差来评估抗逆性。研究了这些恢复力特征与身体异常特征之间的关联,并估算了遗传参数。体重偏差的遗传率估计值为中等(h2 = 25.2% 至 36.3%),而称重顺序偏差(h2 = 4.2%)和称重时活动偏差(h2 = 12.0%)的遗传率估计值较低。此外,体重偏差与咬尾伤(rg = 0.22 至 0.30)、跛足(rg = 0.15 至 0.31)和死亡率(rg = 0.19 至 0.33)呈正相关,并与遗传相关。这些结果表明,咬尾、跛足和死亡事件与猪的体重变化偏差有关。而称重顺序和称重过程中的活动偏差则不存在这种关系。此外,个体体重偏差与栏内均匀度呈正相关,这证明了针对这些抗逆性特质进行育种可能会提高猪的抗逆性和户内均匀度。总之,我们的研究结果表明,根据纵向体重数据的偏差进行抗逆性育种,可以减少猪的咬尾伤、跛足和死亡率,同时提高栏内的均匀度。这些发现对养猪业者很有价值,因为它们提供了证据,证明这些恢复力特征是动物总体健康、福利和恢复力的指标。此外,这些结果将促进通过纵向体重对其他物种的恢复力进行量化。
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引用次数: 0
The RHCE gene encodes the chicken blood system I RHCE 基因编码鸡血液系统 I
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-06-19 DOI: 10.1186/s12711-024-00911-9
Janet E. Fulton, Amy M. McCarron, Ashlee R. Lund, Wioleta Drobik-Czwarno, Abigail Mullen, Anna Wolc, Joanna Szadkowska, Carl J. Schmidt, Robert L. Taylor
There are 13 known chicken blood systems, which were originally detected by agglutination of red blood cells by specific alloantisera. The genomic region or specific gene responsible has been identified for four of these systems (A, B, D and E). We determined the identity of the gene responsible for the chicken blood system I, using DNA from multiple birds with known chicken I blood system serology, 600K and 54K single nucleotide polymorphism (SNP) data, and lowpass sequence information. The gene responsible for the chicken I blood system was identified as RHCE, which is also one of the genes responsible for the highly polymorphic human Rh blood group locus, for which maternal/fetal antigenic differences can result in fetal hemolytic anemia with fetal mortality. We identified 17 unique RHCE haplotypes in the chicken, with six haplotypes corresponding to known I system serological alleles. We also detected deletions in the RHCE gene that encompass more than 6000 bp and that are predicted to remove its last seven exons. RHCE is the gene responsible for the chicken I blood system. This is the fifth chicken blood system for which the responsible gene and gene variants are known. With rapid DNA-based testing now available, the impact of I blood system variation on response against disease, general immune function, and animal production can be investigated in greater detail.
已知的鸡血系统有 13 种,最初是通过红细胞与特异性异抗原的凝集作用来检测的。其中四个系统(A、B、D 和 E)的基因组区域或特定基因已经确定。我们利用多只已知鸡 I 型血液系统血清学特征的鸟类的 DNA、600K 和 54K 单核苷酸多态性(SNP)数据以及低通序列信息,确定了鸡 I 型血液系统的基因身份。负责鸡 I 型血液系统的基因被鉴定为 RHCE,它也是负责高度多态的人类 Rh 血型位点的基因之一,母体/胎儿抗原差异可导致胎儿溶血性贫血和胎儿死亡。我们在鸡体内发现了 17 个独特的 RHCE 单倍型,其中 6 个单倍型与已知的 I 系统血清等位基因相对应。我们还在 RHCE 基因中检测到了超过 6000 bp 的缺失,据预测,这些缺失将删除其最后 7 个外显子。RHCE 是负责鸡 I 型血液系统的基因。这已经是第五种已知致病基因和基因变异体的鸡血系统。现在有了基于 DNA 的快速检测方法,可以更详细地研究 I 型血液系统变异对疾病反应、一般免疫功能和动物生产的影响。
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引用次数: 0
Investigating the impact of paternal age, paternal heat stress, and estimation of non-genetic paternal variance on dairy cow phenotype 调查父系年龄、父系热应激和父系非遗传变异对奶牛表型的影响
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-06-18 DOI: 10.1186/s12711-024-00918-2
Corentin Fouéré, Chris Hozé, Florian Besnard, Mekki Boussaha, Didier Boichard, Marie-Pierre Sanchez
Linear models that are commonly used to predict breeding values in livestock species consider paternal influence solely as a genetic effect. However, emerging evidence in several species suggests the potential effect of non-genetic semen-mediated paternal effects on offspring phenotype. This study contributes to such research by analyzing the extent of non-genetic paternal effects on the performance of Holstein, Montbéliarde, and Normande dairy cows. Insemination data, including semen Batch Identifier (BI, a combination of bull identification and collection date), was associated with various traits measured in cows born from the insemination. These traits encompassed stature, milk production (milk, fat, and protein yields), udder health (somatic cell score and clinical mastitis), and female fertility (conception rates of heifers and cows). We estimated (1) the effects of age at collection and heat stress during spermatogenesis, and (2) the variance components associated with BI or Weekly aggregated BI (WBI). Overall, the non-genetic paternal effect estimates were small and of limited biological importance. However, while heat stress during spermatogenesis did not show significant associations with any of the traits studied in daughters, we observed significant effects of bull age at semen collection on the udder health of daughters. Indeed, cows born from bulls collected after 1500 days of age had higher somatic cell scores compared to those born from bulls collected at a younger age (less than 400 days old) in both Holstein and Normande breeds (+ 3% and + 5% of the phenotypic mean, respectively). In addition, across all breeds and traits analyzed, the estimates of non-genetic paternal variance were consistently low, representing on average 0.13% and 0.09% of the phenotypic variance for BI and WBI, respectively (ranging from 0 to 0.7%). These estimates did not significantly differ from zero, except for milk production traits (milk, fat, and protein yields) in the Holstein breed and protein yield in the Montbéliarde breed when WBI was considered. Our findings indicate that non-genetic paternal information transmitted through semen does not substantially influence the offspring phenotype in dairy cattle breeds for routinely measured traits. This lack of substantial impact may be attributed to limited transmission or minimal exposure of elite bulls to adverse conditions.
通常用于预测家畜育种价值的线性模型仅将父亲的影响视为遗传效应。然而,一些物种中新出现的证据表明,非遗传的精液介导的父本效应对后代表型有潜在影响。本研究通过分析非遗传的父本效应对荷斯坦、蒙贝利亚德和诺曼底奶牛生产性能的影响程度,为此类研究做出了贡献。人工授精数据(包括精液批次标识符(BI,公牛标识和采集日期的组合))与人工授精所产奶牛的各种性状相关联。这些性状包括身材、产奶量(牛奶、脂肪和蛋白质产量)、乳房健康(体细胞评分和临床乳腺炎)和雌性繁殖力(小母牛和母牛的受孕率)。我们估算了(1)采精年龄和精子发生过程中热应激的影响,以及(2)与BI或每周综合BI(WBI)相关的变异成分。总体而言,非遗传父系效应估计值较小,生物学重要性有限。然而,虽然精子发生过程中的热应激与所研究的女儿的任何性状都没有显著关联,但我们观察到公牛采精年龄对女儿乳房健康的显著影响。事实上,在荷斯坦和诺曼底两个品种中,从 1500 日龄后采集精液的公牛所产的母牛,体细胞得分要高于从较年轻(不足 400 日龄)的公牛所产的母牛(分别为表型平均值的 + 3% 和 + 5%)。此外,在分析的所有品种和性状中,非遗传父系变异的估计值一直较低,平均分别占 BI 和 WBI 表型变异的 0.13% 和 0.09%(从 0 到 0.7% 不等)。除了荷斯坦品种的产奶性状(牛奶、脂肪和蛋白质产量)和蒙贝利亚德品种的蛋白质产量(考虑 WBI 时)外,这些估计值与零没有明显差异。我们的研究结果表明,就常规测定的性状而言,通过精液传播的非遗传父系信息不会对奶牛品种的后代表型产生实质性影响。缺乏实质性影响的原因可能是传播有限或精英公牛极少暴露于不利条件下。
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引用次数: 0
Genomic analyses of withers height and linear conformation traits in German Warmblood horses using imputed sequence-level genotypes 利用推算的序列级基因型对德国温血马的腰高和线性体形特征进行基因组分析
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-06-13 DOI: 10.1186/s12711-024-00914-6
Paula Reich, Sandra Möller, Kathrin F. Stock, Wietje Nolte, Mario von Depka Prondzinski, Reinhard Reents, Ernst Kalm, Christa Kühn, Georg Thaller, Clemens Falker-Gieske, Jens Tetens
Body conformation, including withers height, is a major selection criterion in horse breeding and is associated with other important traits, such as health and performance. However, little is known about the genomic background of equine conformation. Therefore, the aim of this study was to use imputed sequence-level genotypes from up to 4891 German Warmblood horses to identify genomic regions associated with withers height and linear conformation traits. Furthermore, the traits were genetically characterised and putative causal variants for withers height were detected. A genome-wide association study (GWAS) for withers height confirmed the presence of a previously known quantitative trait locus (QTL) on Equus caballus (ECA) chromosome 3 close to the LCORL/NCAPG locus, which explained 16% of the phenotypic variance for withers height. An additional significant association signal was detected on ECA1. Further investigations of the region on ECA3 identified a few promising candidate causal variants for withers height, including a nonsense mutation in the coding sequence of the LCORL gene. The estimated heritability for withers height was 0.53 and ranged from 0 to 0.34 for the conformation traits. GWAS identified significantly associated variants for more than half of the investigated conformation traits, among which 13 showed a peak on ECA3 in the same region as withers height. Genetic parameter estimation revealed high genetic correlations between these traits and withers height for the QTL on ECA3. The use of imputed sequence-level genotypes from a large study cohort led to the discovery of novel QTL associated with conformation traits in German Warmblood horses. The results indicate the high relevance of the QTL on ECA3 for various conformation traits, including withers height, and contribute to deciphering causal mutations for body size in horses.
体型(包括肩高)是马匹育种的一个主要选择标准,并与其他重要性状(如健康和性能)相关。然而,人们对马体型的基因组背景知之甚少。因此,本研究的目的是利用来自多达 4891 匹德国温血马的估算序列级基因型来确定与马背高和线性构象性状相关的基因组区域。此外,该研究还对这些性状进行了遗传特征分析,并检测出了与背高有关的潜在因果变异。针对马背高的全基因组关联研究(GWAS)证实,在靠近LCORL/NCAPG基因座的Equus caballus(ECA)3号染色体上存在一个先前已知的数量性状基因座(QTL),该基因座解释了16%的马背高表型变异。在 ECA1 上还发现了一个重要的关联信号。对 ECA3 上区域的进一步研究发现了一些有希望的候选因果变异,包括 LCORL 基因编码序列中的一个无义突变。估计腰高的遗传率为 0.53,体型性状的遗传率在 0 至 0.34 之间。全球遗传变异分析发现了半数以上被调查的构象性状的明显相关变异,其中有 13 个变异在 ECA3 上出现峰值,与腰围相同。遗传参数估计显示,这些性状与 ECA3 上 QTL 的肩高之间存在很高的遗传相关性。通过使用来自大型研究队列的估算序列级基因型,发现了与德国温血马体形特征相关的新型 QTL。研究结果表明,ECA3上的QTL与包括肩高在内的各种构象性状高度相关,有助于破译马匹体型的因果突变。
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引用次数: 0
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Genetics Selection Evolution
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