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Correction: Identification of candidate regulatory genes for intramuscular fatty acid composition in pigs by transcriptome analysis 更正:通过转录组分析确定猪肌肉内脂肪酸组成的候选调控基因
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-02-26 DOI: 10.1186/s12711-024-00885-8
Jesús Valdés-Hernández, Josep M. Folch, Daniel Crespo-Piazuelo, Magí Passols, Cristina Sebastià, Lourdes Criado-Mesas, Anna Castelló, Armand Sánchez, Yuliaxis Ramayo-Caldas
<p><b>Correction: Genetics Selection Evolution (2024) 56:12</b><b>https://doi.org/10.1186/s12711-024-00882-x</b></p><p>After publication of original article [1], we noticed that two errors were introduced during production:</p><ol><li><span>(1)</span><p>In the <b>Bioinformatic and statistical analyses</b> section, the corresponding information on the <b>X</b> and <b>Y</b> matrices has been removed in three places:</p><p>The part “A regularized canonical correlation analysis (rCCA) was performed using the expression dataset of the 12,381 genes (matrix) and the 15 FA traits (matrix) measured on the 129 individuals. The rCCA multivariate approach is implemented in the mixOmics v6.14.1 package [12], which allows subsets of canonical variables that maximize the correlation between two datasets (“and”, respectively of sizes n × p and n × q) to be identified [22].”</p><p>Should be “A regularized canonical correlation analysis (rCCA) was performed using the expression dataset of the 12,381 genes (matrix <b>Y</b>) and the 15 FA traits (matrix <b>X</b>) measured on the 129 individuals. The rCCA multivariate approach is implemented in the mixOmics v6.14.1 package [10], which allows to identify the subsets of canonical variables that maximize the correlation between two datasets (“<b>X</b> and <b>Y</b>”, respectively of sizes n × p and n × q) [22].”</p></li><li><span>(2)</span><p>In the Funding section, the following term “https://doi.org/” has been automatically added to the funding source in three places. In fact, the correct funding source should be “MCIN/AEI/10.13039/501100011033” and not “MCIN/AEI/https://doi.org/10.13039/501100011033”.</p></li></ol><ol data-track-component="outbound reference"><li data-counter="1."><p>Valdés-Hernández J, Folch JM, Crespo-Piazuelo D, Passols M, Sebastià C, Criado-Mesas L, Castelló A, Sánchez A, Ramayo-Caldas Y. Identification of candidate regulatory genes for intramuscular fatty acid composition in pigs by transcriptome analysis. Genet Sel Evol. 2024;56:12. https://doi.org/10.1186/s12711-024-00882-x.</p><p>Article CAS PubMed PubMed Central Google Scholar </p></li></ol><p>Download references<svg aria-hidden="true" focusable="false" height="16" role="img" width="16"><use xlink:href="#icon-eds-i-download-medium" xmlns:xlink="http://www.w3.org/1999/xlink"></use></svg></p><h3>Authors and Affiliations</h3><ol><li><p>Plant and Animal Genomics, Centre for Research in Agricultural Genomics (CRAG), CSIC-IRTA-UAB-UB, Campus UAB, Bellaterra, Spain</p><p>Jesús Valdés-Hernández, Josep M. Folch, Magí Passols, Cristina Sebastià, Lourdes Criado-Mesas, Anna Castelló & Armand Sánchez</p></li><li><p>Departament de Ciència Animal i dels Aliments, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, Spain</p><p>Jesús Valdés-Hernández, Josep M. Folch, Cristina Sebastià, Anna Castelló & Armand Sánchez</p></li><li><p>Departament de Genètica i Millora Animal, Institut de Recerca y Tecnologia Agraroalimentàri
更正:Genetics Selection Evolution (2024) 56:12https://doi.org/10.1186/s12711-024-00882-xAfter 原文[1]发表后,我们发现在制作过程中出现了两处错误:(1)在生物信息和统计分析部分,有三处删除了X和Y矩阵的相应信息:"使用129个个体的12,381个基因的表达数据集(矩阵)和15个FA性状(矩阵)进行了正则化典型相关分析(rCCA)。rCCA多元方法在mixOmics v6.14.1软件包[12]中实现,该软件包可识别出使两个数据集("和",分别为n×p和n×q)之间的相关性最大化的典型变量子集[22]。"应为 "利用在129个个体上测量的12,381个基因的表达数据集(矩阵Y)和15个FA性状(矩阵X)进行了正则化典型相关分析(rCCA)。rCCA 多变量方法是在 mixOmics v6.14.1 软件包[10]中实现的,该软件包可以找出使两个数据集("X 和 Y",分别为 n×p 和 n×q)之间的相关性最大化的典型变量子集[22]。"(2)在 "经费来源 "部分,有三处自动添加了以下术语 "https://doi.org/"。事实上,正确的经费来源应该是 "MCIN/AEI/10.13039/501100011033",而不是 "MCIN/AEI/https://doi.org/10.13039/501100011033"。Valdés-Hernández J, Folch JM, Crespo-Piazuelo D, Passols M, Sebastià C, Criado-Mesas L, Castelló A, Sánchez A, Ramayo-Caldas Y. Identification of candidate regulatory genes for intramuscular fatty acid composition in pigs by transcriptome analysis.Genet Sel Evol. 2024;56:12. https://doi.org/10.1186/s12711-024-00882-x.Article CAS PubMed PubMed Central Google Scholar Download references作者和单位植物和动物基因组学、农业基因组学研究中心(CRAG)、CSIC-IRTA-UAB-UB、Campus UAB、Bellaterra、西班牙Jesús Valdés-Hernández, Josep M.Folch, Magí Passols, Cristina Sebastià, Lourdes Criado-Mesas, Anna Castelló &amp; Armand SánchezDepartament de Ciència Animal i dels Aliments, Facultat de Veterinària, Universitat Autònoma de Barcelona, Bellaterra, SpainJesús Valdés-Hernández, Josep M.Folch, Cristina Sebastià, Anna Castelló &amp; Armand SánchezDepartament de Genètica i Millora Animal, Institut de Recerca y Tecnologia Agraroalimentàries (IRTA), Caldes de Montbui, SpainDaniel Crespo-Piazuelo &amp; Yuliaxis Ramayo-Caldas作者Jesús Valdés-HernándezView author publications您还可以在PubMed Google ScholarJosep M.FolchView 作者发表作品您也可以在 PubMed Google ScholarDaniel Crespo-PiazueloView 作者发表作品您也可以在 PubMed Google ScholarMagí PassolsView 作者发表作品您也可以在 PubMed Google ScholarCristina SebastiàView 作者发表作品您也可以在 PubMed Google ScholarLourdes CriadoMesasView作者发表作品您也可以在PubMed Google Scholar中搜索该作者Anna CastellóView作者发表作品您也可以在PubMed Google Scholar中搜索该作者Armand SánchezView作者发表作品您也可以在PubMed Google Scholar中搜索该作者Yuliaxis Ramayo-CaldasView作者发表作品您也可以在PubMed Google Scholar中搜索该作者通信作者Jesús Valdés-Hernández或Yuliaxis Ramayo-Caldas。开放获取本文采用知识共享署名 4.0 国际许可协议进行许可,该协议允许以任何媒介或格式使用、共享、改编、分发和复制,只要您适当注明原作者和来源,提供知识共享许可协议的链接,并说明是否进行了修改。本文中的图片或其他第三方材料均包含在文章的知识共享许可协议中,除非在材料的署名栏中另有说明。如果材料未包含在文章的知识共享许可协议中,且您打算使用的材料不符合法律规定或超出许可使用范围,您需要直接从版权所有者处获得许可。如需查看该许可的副本,请访问 http://creativecommons.org/licenses/by/4.0/。除非在数据的贷方行另有说明,否则知识共享公共领域专用免责声明 (http://creativecommons.org/publicdomain/zero/1.0/) 适用于本文提供的数据。转载与许可引用本文Valdés-Hernández, J., Folch, J.M., Crespo-Piazuelo, D. et al. 更正:通过转录组分析鉴定猪肌肉内脂肪酸组成的候选调控基因。Genet Sel Evol 56, 14 (2024). https://doi.org/10.1186/s12711-024-00885-8Download citationPublished: 26 February 2024DOI: https://doi.org/10.1186/s12711-024-00885-8Share this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a shareable link is not currently available for this article.Copy to cl
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引用次数: 0
Genome-wide detection of positive and balancing signatures of selection shared by four domesticated rainbow trout populations (Oncorhynchus mykiss) 在全基因组范围内检测四个驯化虹鳟种群(Oncorhynchus mykiss)共有的正平衡选择特征
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-02-22 DOI: 10.1186/s12711-024-00884-9
Katy Paul, Gwendal Restoux, Florence Phocas
Evolutionary processes leave footprints along the genome over time. Highly homozygous regions may correspond to positive selection of favorable alleles, while maintenance of heterozygous regions may be due to balancing selection phenomena. We analyzed data from 176 fish from four disconnected domestic rainbow trout populations that were genotyped using a high-density Axiom Trout genotyping 665K single nucleotide polymorphism array, including 20 from the US and 156 from three French lines. Using methods based on runs of homozygosity and extended haplotype homozygosity, we detected signatures of selection in these four populations. Nine genomic regions that included 253 genes were identified as being under positive selection in all four populations Most were located on chromosome 2 but also on chromosomes 12, 15, 16, and 20. In addition, four heterozygous regions that contain 29 genes that are putatively under balancing selection were also shared by the four populations. These were located on chromosomes 10, 13, and 19. Regardless of the homozygous or heterozygous nature of the regions, in each region, we detected several genes that are highly conserved among vertebrates due to their critical roles in cellular and nuclear organization, embryonic development, or immunity. We identified new candidate genes involved in rainbow trout fitness, as well as 17 genes that were previously identified to be under positive selection, 10 of which in other fishes (auts2, atp1b3, zp4, znf135, igf-1α, brd2, col9a2, mrap2, pbx1, and emilin-3). Using material from disconnected populations of different origins allowed us to draw a genome-wide map of signatures of positive selection that are shared between these rainbow trout populations, and to identify several regions that are putatively under balancing selection. These results provide a valuable resource for future investigations of the dynamics of genetic diversity and genome evolution during domestication.
随着时间的推移,进化过程会在基因组上留下足迹。高同源区可能与有利等位基因的正向选择相对应,而杂合区的维持可能是由于平衡选择现象。我们分析了来自四个互不相连的国内虹鳟种群的 176 条鱼的数据,这些鱼是用高密度 Axiom Trout 基因分型 665K 单核苷酸多态性阵列进行基因分型的,其中 20 条来自美国,156 条来自三个法国品系。利用基于同源性和扩展单倍型同源性的方法,我们在这四个种群中检测到了选择的特征。在所有四个种群中,包括 253 个基因在内的九个基因组区域被确定为处于正选择状态,其中大部分位于 2 号染色体上,也有的位于 12、15、16 和 20 号染色体上。此外,四个种群还共有四个杂合区域,其中包含 29 个基因,这些基因可能处于平衡选择之下。它们分别位于 10、13 和 19 号染色体上。无论这些区域是同源还是异源,我们都在每个区域中检测到了几个在脊椎动物中高度保守的基因,这些基因在细胞和核组织、胚胎发育或免疫中起着关键作用。我们发现了与虹鳟健康有关的新候选基因,以及之前发现的17个正选择基因,其中10个在其他鱼类中(auts2、atp1b3、zp4、znf135、igf-1α、brd2、col9a2、mrap2、pbx1和emilin-3)。通过使用来自不同起源、互不相连的种群的材料,我们绘制出了这些虹鳟种群之间共享的正向选择特征的全基因组图谱,并确定了几个可能处于平衡选择下的区域。这些结果为今后研究驯化过程中遗传多样性和基因组进化的动态提供了宝贵的资源。
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引用次数: 0
Identification of candidate regulatory genes for intramuscular fatty acid composition in pigs by transcriptome analysis 通过转录组分析确定猪肌肉内脂肪酸组成的候选调控基因
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-02-12 DOI: 10.1186/s12711-024-00882-x
Jesús Valdés-Hernández, Josep M. Folch, Daniel Crespo-Piazuelo, Magí Passols, Cristina Sebastià, Lourdes Criado-Mesas, Anna Castelló, Armand Sánchez, Yuliaxis Ramayo-Caldas
Intramuscular fat (IMF) content and its fatty acid (FA) composition are typically controlled by several genes, each with a small effect. In the current study, to pinpoint candidate genes and putative regulators involved in FA composition, we performed a multivariate integrative analysis between intramuscular FA and transcriptome profiles of porcine longissimus dorsi (LD) muscle. We also carried out a combination of network, regulatory impact factor (RIF), in silico prediction of putative target genes, and functional analyses to better support the biological relevance of our findings. For this purpose, we used LD RNA-Seq and intramuscular FA composition profiles of 129 Iberian × Duroc backcrossed pigs. We identified 378 correlated variables (13 FA and 365 genes), including six FA (C20:4n-6, C18:2n-6, C20:3n-6, C18:1n-9, C18:0, and C16:1n-7) that were among the most interconnected variables in the predicted network. The detected FA-correlated genes include genes involved in lipid and/or carbohydrate metabolism or in regulation of IMF deposition (e.g., ADIPOQ, CHUK, CYCS, CYP4B1, DLD, ELOVL6, FBP1, G0S2, GCLC, HMGCR, IDH3A, LEP, LGALS12, LPIN1, PLIN1, PNPLA8, PPP1R1B, SDR16C5, SFRP5, SOD3, SNW1, and TFRC), meat quality (GALNT15, GOT1, MDH1, NEU3, PDHA1, SDHD, and UNC93A), and transport (e.g., EXOC7 and SLC44A2). Functional analysis highlighted 54 over-represented gene ontology terms, including well-known biological processes and pathways that regulate lipid and carbohydrate metabolism. RIF analysis suggested a pivotal role for six transcription factors (CARHSP1, LBX1, MAFA, PAX7, SIX5, and TADA2A) as putative regulators of gene expression and intramuscular FA composition. Based on in silico prediction, we identified putative target genes for these six regulators. Among these, TADA2A and CARHSP1 had extreme RIF scores and present novel regulators in pigs. In addition, the expression of TADA2A correlated (either positively or negatively) with C20:4n-6, C18:2n-6, C20:3n-6, C18:1n-9, and that of CARHSP1 correlated (positively) with the C16:1n-7 lipokine. We also found that these two transcription factors share target genes that are involved in lipid metabolism (e.g., GOT1, PLIN1, and TFRC). This integrative analysis of muscle transcriptome and intramuscular FA profile revealed valuable information about key candidate genes and potential regulators for FA and lipid metabolism in pigs, among which some transcription factors are proposed to control gene expression and modulate FA composition differences.
肌内脂肪(IMF)含量及其脂肪酸(FA)组成通常由多个基因控制,每个基因的影响很小。在本研究中,为了确定参与脂肪酸组成的候选基因和潜在调控因子,我们对猪背阔肌(LD)肌肉的肌内脂肪酸和转录组图谱进行了多变量综合分析。我们还结合网络、调控影响因子(RIF)、假定靶基因的硅学预测和功能分析,以更好地支持我们研究结果的生物学相关性。为此,我们使用了 129 头伊比利亚×杜洛克回交猪的 LD RNA-Seq 和肌肉内 FA 组成图谱。我们发现了 378 个相关变量(13 个 FA 和 365 个基因),其中 6 个 FA(C20:4n-6、C18:2n-6、C20:3n-6、C18:1n-9、C18:0 和 C16:1n-7)是预测网络中相互关联度最高的变量。检测到的 FA 相关基因包括参与脂质和/或碳水化合物代谢或调控 IMF 沉积的基因(例如,adipoq、chukoq、chukoq、adipoq、adipoq、adipoq、adipoq)、adipoq, chuk, cycs, cyp4b1, dld, elovl6, fbp1, g0s2, gclc, hmgcr, idh3a, lep, lgals12, lpin1, plin1, pnpla8, ppp1r1b、SDR16C5、SFRP5、SOD3、SNW1 和 TFRC)、肉质(GALNT15、GOT1、MDH1、NEU3、PDHA1、SDHD 和 UNC93A)和运输(例如,GALNT15、GOT1、MDH1、NEU3、PDHA1、SDHD 和 UNC93A)。g.,EXOC7 和 SLC44A2)。功能分析突出显示了 54 个代表性过高的基因本体术语,包括众所周知的调控脂质和碳水化合物代谢的生物过程和途径。RIF分析表明,六种转录因子(CARHSP1、LBX1、MAFA、PAX7、SIX5和TADA2A)在基因表达和肌内FA组成中起着关键作用。根据硅学预测,我们确定了这六个调控因子的假定靶基因。其中,TADA2A 和 CARHSP1 的 RIF 评分极高,是猪体内的新型调控因子。此外,TADA2A 的表达与 C20:4n-6、C18:2n-6、C20:3n-6 和 C18:1n-9 相关(正相关或负相关),而 CARHSP1 的表达与 C16:1n-7 脂肪因子相关(正相关)。我们还发现,这两个转录因子共享参与脂质代谢的靶基因(如 GOT1、PLIN1 和 TFRC)。对肌肉转录组和肌肉内FA谱的综合分析揭示了猪体内FA和脂质代谢的关键候选基因和潜在调控因子的宝贵信息,其中一些转录因子被认为可控制基因表达并调节FA组成差异。
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引用次数: 0
Ancestral alleles defined for 70 million cattle variants using a population-based likelihood ratio test 利用基于群体的似然比检验为 7000 万个牛变体确定祖先等位基因
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-02-06 DOI: 10.1186/s12711-024-00879-6
Jigme Dorji, Antonio Reverter, Pamela A. Alexandre, Amanda J. Chamberlain, Christy J. Vander-Jagt, James Kijas, Laercio R. Porto-Neto
The study of ancestral alleles provides insights into the evolutionary history, selection, and genetic structures of a population. In cattle, ancestral alleles are widely used in genetic analyses, including the detection of signatures of selection, determination of breed ancestry, and identification of admixture. Having a comprehensive list of ancestral alleles is expected to improve the accuracy of these genetic analyses. However, the list of ancestral alleles in cattle, especially at the whole genome sequence level, is far from complete. In fact, the current largest list of ancestral alleles (~ 42 million) represents less than 28% of the total number of detected variants in cattle. To address this issue and develop a genomic resource for evolutionary studies, we determined ancestral alleles in cattle by comparing prior derived whole-genome sequence variants to an out-species group using a population-based likelihood ratio test. Our study determined and makes available the largest list of ancestral alleles in cattle to date (70.1 million) and includes 2.3 million on the X chromosome. There was high concordance (97.6%) of the determined ancestral alleles with those from previous studies when only high-probability ancestral alleles were considered (29.8 million positions) and another 23.5 million high-confidence ancestral alleles were novel, expanding the available reference list to improve the accuracies of genetic analyses involving ancestral alleles. The high concordance of the results with previous studies implies that our approach using genomic sequence variants and a likelihood ratio test to determine ancestral alleles is appropriate. Considering the high concordance of ancestral alleles across studies, the ancestral alleles determined in this study including those not previously listed, particularly those with high-probability estimates, may be used for further genetic analyses with reasonable accuracy. Our approach that used predetermined variants in species and the likelihood ratio test to determine ancestral alleles is applicable to other species for which sequence level genotypes are available.
通过对祖先等位基因的研究,可以深入了解一个种群的进化历史、选择和遗传结构。在牛的遗传分析中,祖先等位基因被广泛应用,包括检测选择特征、确定品种祖先和识别混血。拥有一份全面的祖先等位基因列表有望提高这些遗传分析的准确性。然而,牛的祖先等位基因列表,尤其是在全基因组序列水平上,还远远不够完整。事实上,目前最大的祖先等位基因列表(约 4200 万)只占牛检测到的变异总数的不到 28%。为了解决这个问题并开发用于进化研究的基因组资源,我们利用基于种群的似然比检验,通过比较先验推导的全基因组序列变异与外种群,确定了牛的祖先等位基因。我们的研究确定并提供了迄今为止最大的牛祖先等位基因列表(7010 万个),其中包括 X 染色体上的 230 万个等位基因。在只考虑高概率祖先等位基因(2980 万个位置)和另外 2350 万个高置信度祖先等位基因的情况下,确定的祖先等位基因与之前研究的结果高度一致(97.6%),扩大了可用的参考列表,提高了涉及祖先等位基因的遗传分析的准确性。研究结果与之前的研究高度一致,这意味着我们使用基因组序列变异和似然比检验来确定祖先等位基因的方法是合适的。考虑到不同研究中祖先等位基因的高度一致性,本研究中确定的祖先等位基因,包括以前未列出的等位基因,尤其是那些估计概率较高的等位基因,可用于进一步的遗传分析,且准确性较高。我们利用物种中的预定变异和似然比检验来确定祖先等位基因的方法适用于可获得序列水平基因型的其他物种。
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引用次数: 0
Inbreeding depression is associated with recent homozygous-by-descent segments in Belgian Blue beef cattle. 近亲繁殖抑制与比利时蓝肉牛最近的同源后裔区段有关。
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-01-31 DOI: 10.1186/s12711-024-00878-7
Maulana Mughitz Naji, José Luis Gualdrón Duarte, Natalia Soledad Forneris, Tom Druet

Background: Cattle populations harbor generally high inbreeding levels that can lead to inbreeding depression (ID). Here, we study ID with different estimators of the inbreeding coefficient F, evaluate their sensitivity to used allele frequencies (founder versus sample allele frequencies), and compare effects from recent and ancient inbreeding.

Methods: We used data from 14,205 Belgian Blue beef cattle genotyped cows that were phenotyped for 11 linear classification traits. We computed estimators of F based on the pedigree information (FPED), on the correlation between uniting gametes (FUNI), on the genomic relationship matrix (FGRM), on excess homozygosity (FHET), or on homozygous-by-descent (HBD) segments (FHBD).

Results: FUNI and FGRM were sensitive to used allele frequencies, whereas FHET and FHBD were more robust. We detected significant ID for four traits related to height and length; FHBD and FUNI presenting the strongest associations. Then, we took advantage of the classification of HBD segments in different age-related classes (the length of an HBD segment being inversely related to the number of generations to the common ancestors) to determine that recent HBD classes (common ancestors present approximately up to 15 generations in the past) presented stronger ID than more ancient HBD classes. We performed additional analyses to check whether these observations could result from a lower level of variation in ancient HBD classes, or from a reduced precision to identify these shorter segments.

Conclusions: Overall, our results suggest that mutational load decreases with haplotype age, and that mating plans should consider mainly the levels of recent inbreeding.

背景:牛群的近亲繁殖水平普遍较高,可能导致近亲繁殖抑制(ID)。在此,我们用近交系数 F 的不同估计值来研究近交抑郁,评估它们对所用等位基因频率(始祖等位基因频率与样本等位基因频率)的敏感性,并比较近期近交和远期近交的影响:我们使用了 14205 头比利时蓝肉牛基因分型奶牛的数据,这些数据针对 11 个线性分类性状进行了表型分析。我们根据血统信息(FPED)、结合配子间的相关性(FUNI)、基因组关系矩阵(FGRM)、过高同源性(FHET)或后代同源性(HBD)片段(FHBD)计算了F的估计值:结果:FUNI 和 FGRM 对使用过的等位基因频率很敏感,而 FHET 和 FHBD 则更稳健。我们在与身高和体长相关的四个性状中检测到了明显的 ID,其中 FHBD 和 FUNI 的关联性最强。然后,我们利用 HBD 片段在不同年龄相关类别中的分类(HBD 片段的长度与共同祖先的世代数成反比),确定最近的 HBD 类别(共同祖先大约出现在 15 代之前)比更古老的 HBD 类别具有更强的 ID。我们还进行了其他分析,以检验这些观察结果是否可能是由于古代 HBD 类的变异水平较低,或者是由于识别这些较短片段的精确度较低:总之,我们的研究结果表明,突变负荷会随着单倍型年龄的增长而降低,交配计划应主要考虑近期近亲繁殖的水平。
{"title":"Inbreeding depression is associated with recent homozygous-by-descent segments in Belgian Blue beef cattle.","authors":"Maulana Mughitz Naji, José Luis Gualdrón Duarte, Natalia Soledad Forneris, Tom Druet","doi":"10.1186/s12711-024-00878-7","DOIUrl":"10.1186/s12711-024-00878-7","url":null,"abstract":"<p><strong>Background: </strong>Cattle populations harbor generally high inbreeding levels that can lead to inbreeding depression (ID). Here, we study ID with different estimators of the inbreeding coefficient F, evaluate their sensitivity to used allele frequencies (founder versus sample allele frequencies), and compare effects from recent and ancient inbreeding.</p><p><strong>Methods: </strong>We used data from 14,205 Belgian Blue beef cattle genotyped cows that were phenotyped for 11 linear classification traits. We computed estimators of F based on the pedigree information (F<sub>PED</sub>), on the correlation between uniting gametes (F<sub>UNI</sub>), on the genomic relationship matrix (F<sub>GRM</sub>), on excess homozygosity (F<sub>HET</sub>), or on homozygous-by-descent (HBD) segments (F<sub>HBD</sub>).</p><p><strong>Results: </strong>F<sub>UNI</sub> and F<sub>GRM</sub> were sensitive to used allele frequencies, whereas F<sub>HET</sub> and F<sub>HBD</sub> were more robust. We detected significant ID for four traits related to height and length; F<sub>HBD</sub> and F<sub>UNI</sub> presenting the strongest associations. Then, we took advantage of the classification of HBD segments in different age-related classes (the length of an HBD segment being inversely related to the number of generations to the common ancestors) to determine that recent HBD classes (common ancestors present approximately up to 15 generations in the past) presented stronger ID than more ancient HBD classes. We performed additional analyses to check whether these observations could result from a lower level of variation in ancient HBD classes, or from a reduced precision to identify these shorter segments.</p><p><strong>Conclusions: </strong>Overall, our results suggest that mutational load decreases with haplotype age, and that mating plans should consider mainly the levels of recent inbreeding.</p>","PeriodicalId":55120,"journal":{"name":"Genetics Selection Evolution","volume":"56 1","pages":"10"},"PeriodicalIF":4.1,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10832232/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139652237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction: Validation of reaction norm breeding values for robustness in Australian sheep 更正:验证澳大利亚绵羊健壮性的反应标准育种值
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-01-25 DOI: 10.1186/s12711-024-00877-8
Dominic L. Waters, Sam A. Clark, Daniel J. Brown, Samuel F. Walkom, Julius H. J. van der Werf
<p><b>Correction: Genetics Selection Evolution (2024) 56:4 </b><b>https://doi.org/10.1186/s12711-023-00872-5</b></p><p>After publication of this original article [1], we noticed that an error was introduced in Eq. (2) page 3 which should be:</p><span>$$mathbf{y}=mathbf{X}mathbf{b}+{mathbf{Z}}_{1}{mathbf{a}}_{mathbf{0}}+{mathbf{Z}}_{mathbf{2}}{mathbf{a}}_{mathbf{1}}+{mathbf{Z}}_{mathbf{3}}mathbf{c}+mathbf{Q}mathbf{g}+{mathbf{e}},$$</span>(2)<p>instead of :</p><span>$$mathbf{y}=mathbf{X}mathbf{b}+{Pmathbf{Z}}_{mathbf{1}}{mathbf{a}}_{mathbf{0}}+{mathbf{Z}}_{mathbf{2}}{mathbf{a}}_{mathbf{1}}+{mathbf{Z}}_{mathbf{3}}mathbf{c}+mathbf{Q}mathbf{g}+{mathbf{e}}.$$</span><ol data-track-component="outbound reference"><li data-counter="1."><p>Waters DL, Clark SA, Brown DJ, Walkom SF, van der Werf HJ. Validation of reaction norm breeding values for robustness in Australian sheep. Genet Sel Evol. 2024;56:4. https://doi.org/10.1186/s12711-023-00872-5.</p><p>Article PubMed PubMed Central Google Scholar </p></li></ol><p>Download references<svg aria-hidden="true" focusable="false" height="16" role="img" width="16"><use xlink:href="#icon-eds-i-download-medium" xmlns:xlink="http://www.w3.org/1999/xlink"></use></svg></p><h3>Authors and Affiliations</h3><ol><li><p>School of Environmental and Rural Science, University of New England, Armidale, NSW, 2351, Australia</p><p>Dominic L. Waters, Sam A. Clark & Julius H. J. van der Werf</p></li><li><p>Animal Genetics and Breeding Unit, University of New England, Armidale, NSW, 2351, Australia</p><p>Dominic L. Waters, Daniel J. Brown & Samuel F. Walkom</p></li></ol><span>Authors</span><ol><li><span>Dominic L. Waters</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Sam A. Clark</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Daniel J. Brown</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Samuel F. Walkom</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Julius H. J. van der Werf</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li></ol><h3>Corresponding author</h3><p>Correspondence to Dominic L. Waters.</p><h3>Publisher’s Note</h3><p>Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.</p><p>The online version of the original article can be found at https://doi.org/10.1186/s12711-023-00872-5.</p><p><b>Open Access</b> This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate cred
更正:Genetics Selection Evolution (2024) 56:4 https://doi.org/10.1186/s12711-023-00872-5After 在发表这篇原文[1]时,我们注意到公式(2)第 3 页中有一处错误,应为:"...(2) 第 3 页中引入了一个错误,它应该是$$mathbf{y}=mathbf{X}mathbf{b}+{mathbf{Z}}_{1}{mathbf{a}}_{mathbf{0}}+{mathbf{Z}}_{mathbf{2}}{mathbf{a}}_{mathbf{1}}+{mathbf{Z}}_{mathbf{3}}mathbf{c}+mathbf{Q}mathbf{g}+{mathbf{e}},$$(2)instead of :$$mathbf{y}=mathbf{X}mathbf{b}+{Pmathbf{Z}}_{mathbf{1}}{mathbf{a}}_{mathbf{0}}+{mathbf{Z}}_{mathbf{2}}{mathbf{a}}_{mathbf{1}}+{mathbf{Z}}_{mathbf{3}}mathbf{c}+mathbf{Q}mathbf{g}+{mathbf{e}}.$$Waters DL, Clark SA, Brown DJ, Walkom SF, van der Werf HJ.澳大利亚绵羊健壮性反应标准育种值的验证。Genet Sel Evol. 2024;56:4. https://doi.org/10.1186/s12711-023-00872-5.Article PubMed PubMed Central Google Scholar Download references作者及工作单位澳大利亚新英格兰大学环境与农村科学学院(University of New England, Armidale, NSW, 2351, Australia)Dominic L. Waters, Sam A. Clark & Julius H. J. van der Werf澳大利亚新英格兰大学动物遗传学与育种部(University of New England, Armidale, NSW, 2351, Australia)Dominic L. Waters, Daniel J. Brown & Julius H. J. van der Werf.Waters, Daniel J. Brown & Samuel F. Walkom作者Dominic L. Waters查看作者发表的论文您也可以在PubMed Google ScholarSam A. Clark查看作者发表的论文您也可以在PubMed Google ScholarDaniel J. Brown查看作者发表的论文您也可以在PubMed Google ScholarSamuel F. Walkom查看作者发表的论文WalkomView author publications您也可以在PubMed Google Scholar中搜索该作者Julius H. J. van der WerfView author publications您也可以在PubMed Google Scholar中搜索该作者Corresponding authorCorrespondence to Dominic L. Waters.Publisher's Note施普林格-自然对出版地图和机构隶属关系中的管辖权主张保持中立。本文采用知识共享署名 4.0 国际许可协议(Creative Commons Attribution 4.0 International License)进行许可,允许以任何媒介或格式使用、共享、改编、分发和复制,但需注明原作者和来源,提供知识共享许可协议的链接,并说明是否进行了修改。本文中的图片或其他第三方材料均包含在文章的知识共享许可协议中,除非在材料的署名栏中另有说明。如果材料未包含在文章的知识共享许可协议中,且您打算使用的材料不符合法律规定或超出许可使用范围,则您需要直接从版权所有者处获得许可。要查看该许可的副本,请访问 http://creativecommons.org/licenses/by/4.0/。除非在数据的信用行中另有说明,否则知识共享公共领域专用豁免 (http://creativecommons.org/publicdomain/zero/1.0/) 适用于本文提供的数据。转载与许可引用本文Waters, D.L., Clark, S.A., Brown, D.J. et al. Correction:澳大利亚绵羊健壮性反应标准育种值的验证。Genet Sel Evol 56, 9 (2024). https://doi.org/10.1186/s12711-024-00877-8Download citationPublished: 25 January 2024DOI: https://doi.org/10.1186/s12711-024-00877-8Share this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a shareable link is not currently available for this article.Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative
{"title":"Correction: Validation of reaction norm breeding values for robustness in Australian sheep","authors":"Dominic L. Waters, Sam A. Clark, Daniel J. Brown, Samuel F. Walkom, Julius H. J. van der Werf","doi":"10.1186/s12711-024-00877-8","DOIUrl":"https://doi.org/10.1186/s12711-024-00877-8","url":null,"abstract":"&lt;p&gt;\u0000&lt;b&gt;Correction: Genetics Selection Evolution (2024) 56:4 &lt;/b&gt;&lt;b&gt;https://doi.org/10.1186/s12711-023-00872-5&lt;/b&gt;&lt;/p&gt;&lt;p&gt;After publication of this original article [1], we noticed that an error was introduced in Eq. (2) page 3 which should be:&lt;/p&gt;&lt;span&gt;$$mathbf{y}=mathbf{X}mathbf{b}+{mathbf{Z}}_{1}{mathbf{a}}_{mathbf{0}}+{mathbf{Z}}_{mathbf{2}}{mathbf{a}}_{mathbf{1}}+{mathbf{Z}}_{mathbf{3}}mathbf{c}+mathbf{Q}mathbf{g}+{mathbf{e}},$$&lt;/span&gt;(2)&lt;p&gt;instead of :&lt;/p&gt;&lt;span&gt;$$mathbf{y}=mathbf{X}mathbf{b}+{Pmathbf{Z}}_{mathbf{1}}{mathbf{a}}_{mathbf{0}}+{mathbf{Z}}_{mathbf{2}}{mathbf{a}}_{mathbf{1}}+{mathbf{Z}}_{mathbf{3}}mathbf{c}+mathbf{Q}mathbf{g}+{mathbf{e}}.$$&lt;/span&gt;&lt;ol data-track-component=\"outbound reference\"&gt;&lt;li data-counter=\"1.\"&gt;&lt;p&gt;Waters DL, Clark SA, Brown DJ, Walkom SF, van der Werf HJ. Validation of reaction norm breeding values for robustness in Australian sheep. Genet Sel Evol. 2024;56:4. https://doi.org/10.1186/s12711-023-00872-5.&lt;/p&gt;&lt;p&gt;Article PubMed PubMed Central Google Scholar &lt;/p&gt;&lt;/li&gt;&lt;/ol&gt;&lt;p&gt;Download references&lt;svg aria-hidden=\"true\" focusable=\"false\" height=\"16\" role=\"img\" width=\"16\"&gt;&lt;use xlink:href=\"#icon-eds-i-download-medium\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"&gt;&lt;/use&gt;&lt;/svg&gt;&lt;/p&gt;&lt;h3&gt;Authors and Affiliations&lt;/h3&gt;&lt;ol&gt;&lt;li&gt;&lt;p&gt;School of Environmental and Rural Science, University of New England, Armidale, NSW, 2351, Australia&lt;/p&gt;&lt;p&gt;Dominic L. Waters, Sam A. Clark &amp; Julius H. J. van der Werf&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;p&gt;Animal Genetics and Breeding Unit, University of New England, Armidale, NSW, 2351, Australia&lt;/p&gt;&lt;p&gt;Dominic L. Waters, Daniel J. Brown &amp; Samuel F. Walkom&lt;/p&gt;&lt;/li&gt;&lt;/ol&gt;&lt;span&gt;Authors&lt;/span&gt;&lt;ol&gt;&lt;li&gt;&lt;span&gt;Dominic L. Waters&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Sam A. Clark&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Daniel J. Brown&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Samuel F. Walkom&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Julius H. J. van der Werf&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;/ol&gt;&lt;h3&gt;Corresponding author&lt;/h3&gt;&lt;p&gt;Correspondence to Dominic L. Waters.&lt;/p&gt;&lt;h3&gt;Publisher’s Note&lt;/h3&gt;&lt;p&gt;Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.&lt;/p&gt;&lt;p&gt;The online version of the original article can be found at https://doi.org/10.1186/s12711-023-00872-5.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Open Access&lt;/b&gt; This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate cred","PeriodicalId":55120,"journal":{"name":"Genetics Selection Evolution","volume":"5 1","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139551074","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
The potential of microbiota information to better predict efficiency traits in growing pigs fed a conventional and a high-fiber diet 微生物群信息在更好地预测饲喂常规日粮和高纤维日粮的生长猪的效率特征方面的潜力
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-01-19 DOI: 10.1186/s12711-023-00865-4
Vanille Déru, Francesco Tiezzi, Céline Carillier-Jacquin, Benoit Blanchet, Laurent Cauquil, Olivier Zemb, Alban Bouquet, Christian Maltecca, Hélène Gilbert
Improving pigs’ ability to digest diets with an increased dietary fiber content is a lever to improve feed efficiency and limit feed costs in pig production. The aim of this study was to determine whether information on the gut microbiota and host genetics can contribute to predict digestive efficiency (DE, i.e. digestibility coefficients of energy, organic matter, and nitrogen), feed efficiency (FE, i.e. feed conversion ratio and residual feed intake), average daily gain, and daily feed intake phenotypes. Data were available for 1082 pigs fed a conventional or high-fiber diet. Fecal samples were collected at 16 weeks, and DE was estimated using near‑infrared spectrometry. A cross-validation approach was used to predict traits within the same diet, for the opposite diet, and for a combination of both diets, by implementing three models, i.e. with only genomic (Gen), only microbiota (Micro), and both genomic and microbiota information (Micro+Gen). The predictive ability with and without sharing common sires and breeding environment was also evaluated. Prediction accuracy of the phenotypes was calculated as the correlation between model prediction and phenotype adjusted for fixed effects. Prediction accuracies of the three models were low to moderate (< 0.47) for growth and FE traits and not significantly different between models. In contrast, for DE traits, prediction accuracies of model Gen were low (< 0.30) and those of models Micro and Micro+Gen were moderate to high (> 0.52). Prediction accuracies were not affected by the stratification of diets in the reference and validation sets and were in the same order of magnitude within the same diet, for the opposite diet, and for the combination of both diets. Prediction accuracies of the three models were significantly higher when pigs in the reference and validation populations shared common sires and breeding environment than when they did not (P < 0.001). The microbiota is a relevant source of information to predict DE regardless of the diet, but not to predict growth and FE traits for which prediction accuracies were similar to those obtained with genomic information only. Further analyses on larger datasets and more diverse diets should be carried out to complement and consolidate these results.
在养猪生产中,提高猪对膳食纤维含量增加的日粮的消化能力是提高饲料效率和限制饲料成本的一个杠杆。本研究旨在确定肠道微生物群和宿主遗传学方面的信息是否有助于预测消化效率(DE,即能量、有机物和氮的消化系数)、饲料效率(FE,即饲料转化率和剩余饲料摄入量)、平均日增重和日采食量表型。1082 头饲喂常规或高纤维日粮的猪的数据可用。在 16 周时收集粪便样本,并使用近红外光谱法估算 DE。采用交叉验证的方法,通过实施三种模型,即只有基因组信息(Gen)、只有微生物群信息(Micro)以及基因组和微生物群信息(Micro+Gen)的模型,预测相同日粮、相反日粮以及两种日粮组合的性状。同时还评估了有无共享共同父本和育种环境的预测能力。表型的预测准确度是根据固定效应调整后的模型预测与表型之间的相关性计算得出的。三个模型的预测准确率均为中低水平(0.52)。预测准确度不受参考集和验证集中日粮分层的影响,在相同日粮、相反日粮和两种日粮组合中,预测准确度的数量级相同。当参考群和验证群中的猪具有共同的父系和繁殖环境时,三种模型的预测准确率明显高于不具有共同父系和繁殖环境时(P < 0.001)。无论日粮如何,微生物群都是预测仔猪死亡率的相关信息来源,但在预测生长和FE性状方面却不是,其预测准确率与仅用基因组信息获得的预测准确率相似。应该对更大的数据集和更多样化的日粮进行进一步分析,以补充和巩固这些结果。
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引用次数: 0
Simulation of dual-purpose chicken breeding programs implementing gene editing. 模拟实施基因编辑的两用鸡育种计划。
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-01-17 DOI: 10.1186/s12711-023-00874-3
Edward Y S Chuang, Robin Wellmann, Franck L B Meijboom, Jens Tetens, Jörn Bennewitz

Background: In spite of being controversial and raising ethical concerns, the application of gene editing is more likely to be accepted when it contributes to improving animal welfare. One of the animal welfare and ethical issues in chicken breeding is chick culling, the killing of the male layer chicks after hatching due to the poor fattening performance. Although establishing dual-purpose chicken lines could solve this problem, unfavorable genetic correlations between egg and meat production traits hindered their competitiveness. Although it is also controversial in ethical terms, gene editing may accelerate genetic progress in dual-purpose chicken and alleviate the ethical concerns from chick culling.

Results: The simulation compared the utility improvement in dual-purpose use under two breeding schemes: one consisting in the improvement of the laying hens, and the second in the improvement of a synthetic line obtained from a layer broiler cross. In each breeding scheme, the breeding programs were simulated with and without gene editing. Polygenic breeding values and 500 simulated quantitative trait loci (QTL) with different levels of pleiotropy caused negative correlations between egg production, meat production, and overall health. The results of the simulation demonstrated that genetic gain could be accelerated by at most 81% for several generations if gene editing was used. The actual increase in genetic gain depended on the number of single nucleotide polymorphisms (SNPs) being edited per animal. The rate of genetic improvement became equal in scenarios with and without gene editing after 20 generations. This is because the remaining segregating QTL had small effects and their edition would have negative overall health effects from potential off-target edits. Although gene editing can improve genetic gain in quantitative traits, it can only be recommended as long as QTL with reasonable effect sizes are segregating and detectable.

Conclusions: This simulation demonstrates the potential of gene editing to accelerate the simultaneous improvement of negatively correlated traits. When the risk of negative consequences from gene editing persists, the number of SNPs to be edited should be chosen carefully to obtain the optimal genetic gain.

背景:基因编辑的应用尽管存在争议并引发伦理问题,但如果它有助于改善动物福利,则更有可能被接受。鸡育种中的一个动物福利和伦理问题是剔除雏鸡,即孵化后因育肥性能差而杀死雄性蛋鸡。虽然建立两用鸡品系可以解决这一问题,但产蛋和产肉性状之间不利的遗传相关性阻碍了它们的竞争力。虽然在伦理方面也存在争议,但基因编辑可能会加快两用鸡的遗传进展,并减轻剔除雏鸡带来的伦理问题:模拟比较了两种育种方案下两用鸡效用的提高:一种是蛋鸡的改良,另一种是蛋鸡肉鸡杂交合成品系的改良。在每种育种方案中,都模拟了有基因编辑和无基因编辑的育种计划。多基因育种值和 500 个具有不同褶积水平的模拟数量性状位点(QTL)造成了产蛋量、产肉量和整体健康之间的负相关。模拟结果表明,如果使用基因编辑技术,遗传增益最多可在数代内提高 81%。基因增殖的实际增幅取决于每只动物被编辑的单核苷酸多态性(SNP)的数量。经过 20 代后,使用基因编辑和不使用基因编辑的情况下,遗传改良率相同。这是因为剩余的分离 QTL 影响较小,其编辑会因潜在的脱靶编辑而对整体健康产生负面影响。虽然基因编辑可以提高数量性状的遗传增益,但只有在具有合理效应大小的 QTL 能够分离和检测的情况下,才能推荐使用基因编辑:这一模拟证明了基因编辑在加速同时改良负相关性状方面的潜力。当基因编辑的负面影响风险持续存在时,应谨慎选择要编辑的 SNPs 数量,以获得最佳遗传增益。
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引用次数: 0
A cautionary tale of low-pass sequencing and imputation with respect to haplotype accuracy 低通滤波测序和估算单倍型准确性的警示故事
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-01-12 DOI: 10.1186/s12711-024-00875-w
David Wragg, Wengang Zhang, Sarah Peterson, Murthy Yerramilli, Richard Mellanby, Jeffrey J. Schoenebeck, Dylan N. Clements
Low-pass whole-genome sequencing and imputation offer significant cost savings, enabling substantial increases in sample size and statistical power. This approach is particularly promising in livestock breeding, providing an affordable means of screening individuals for deleterious alleles or calculating genomic breeding values. Consequently, it may also be of value in companion animal genomics to support pedigree breeding. We sought to evaluate in dogs the impact of low coverage sequencing and reference-guided imputation on genotype concordance and association analyses. DNA isolated from saliva of 30 Labrador retrievers was sequenced at low (0.9X and 3.8X) and high (43.5X) coverage, and down-sampled from 43.5X to 9.6X and 17.4X. Genotype imputation was performed using a diverse reference panel (1021 dogs), and two subsets of the former panel (256 dogs each) where one had an excess of Labrador retrievers relative to other breeds. We observed little difference in imputed genotype concordance between reference panels. Association analyses for a locus acting as a disease proxy were performed using single-marker (GEMMA) and haplotype-based (XP-EHH) tests. GEMMA results were highly correlated (r ≥ 0.97) between 43.5X and ≥ 3.8X depths of coverage, while for 0.9X the correlation was lower (r ≤ 0.8). XP-EHH results were less well correlated, with r ranging from 0.58 (0.9X) to 0.88 (17.4X). Across a random sample of 10,000 genomic regions averaging 17 kb in size, we observed a median of three haplotypes per dog across the sequencing depths, with 5% of the regions returning more than eight haplotypes. Inspection of one such region revealed genotype and phasing inconsistencies across sequencing depths. We demonstrate that saliva-derived canine DNA is suitable for whole-genome sequencing, highlighting the feasibility of client-based sampling. Low-pass sequencing and imputation require caution as incorrect allele assignments result when the subject possesses alleles that are absent in the reference panel. Larger panels have the capacity for greater allelic diversity, which should reduce the potential for imputation error. Although low-pass sequencing can accurately impute allele dosage, we highlight issues with phasing accuracy that impact haplotype-based analyses. Consequently, if accurately phased genotypes are required for analyses, we advocate sequencing at high depth (> 20X).
低通滤波全基因组测序和估算可大大节省成本,使样本量和统计能力大幅提高。这种方法在家畜育种方面尤其具有前景,它为筛选个体的有害等位基因或计算基因组育种值提供了一种经济实惠的方法。因此,它在伴侣动物基因组学中也可能具有支持血统育种的价值。我们试图在狗身上评估低覆盖率测序和参考指导归因对基因型一致性和关联分析的影响。我们对从 30 只拉布拉多猎犬唾液中分离出来的 DNA 进行了低覆盖率(0.9 倍和 3.8 倍)和高覆盖率(43.5 倍)测序,并从 43.5 倍向下取样至 9.6 倍和 17.4 倍。基因型推算使用了一个多样化的参考样本(1021 只狗)和前一个样本的两个子集(各 256 只狗),其中一个子集中拉布拉多猎犬的数量多于其他品种。我们观察到,参照组之间的推算基因型一致性差别不大。我们使用单标记(GEMMA)和基于单倍型(XP-EHH)的检验对作为疾病代理的基因座进行了关联分析。在 43.5 倍和≥ 3.8 倍的覆盖深度之间,GEMMA 结果高度相关(r ≥ 0.97),而在 0.9 倍的覆盖深度之间,相关性较低(r ≤ 0.8)。XP-EHH 结果的相关性较低,r 值从 0.58(0.9X)到 0.88(17.4X)不等。在平均大小为 17 kb 的 10,000 个基因组区域的随机样本中,我们观察到每只狗在不同测序深度下的单倍型中位数为 3 个,其中 5%的区域有 8 个以上的单倍型。对其中一个区域的检查发现,不同测序深度的基因型和相位不一致。我们证明了从唾液中提取的犬 DNA 适用于全基因组测序,突出了基于客户采样的可行性。低通测序和估算需要谨慎,因为当受试者拥有的等位基因在参照组中不存在时,就会导致不正确的等位基因分配。较大的参照组有能力获得更多的等位基因多样性,这应能减少等位基因归因错误的可能性。虽然低通测序能准确估算等位基因剂量,但我们强调了相位准确性的问题,这影响了基于单倍型的分析。因此,如果分析需要精确分期的基因型,我们主张进行高深度测序(> 20 倍)。
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引用次数: 0
Advances in understanding the genetic architecture of antibody response to paratuberculosis in sheep by heritability estimate and LDLA mapping analyses and investigation of candidate regions using sequence-based data 通过遗传率估算和 LDLA 图谱分析以及利用基于序列的数据对候选区域进行调查,在了解绵羊对副结核病抗体反应的遗传结构方面取得进展
IF 4.1 1区 农林科学 Q1 AGRICULTURE, DAIRY & ANIMAL SCIENCE Pub Date : 2024-01-10 DOI: 10.1186/s12711-023-00873-4
Mario Graziano Usai, Sara Casu, Tiziana Sechi, Sotero L. Salaris, Sabrina Miari, Giuliana Mulas, Maria Giovanna Cancedda, Ciriaco Ligios, Antonello Carta
Paratuberculosis is a contagious and incurable disease that is caused by Mycobacterium avium subsp. paratuberculosis (MAP) with significant negative effects on animal welfare and farm profitability. Based on a large naturally infected flock over 12 years, we analyzed repeated enzyme-linked immunosorbent assay tests (ELISA), OvineSNP50 BeadChip genotypes and whole-genome sequences imputed from 56 influential animals. The main goals were to estimate the genetic parameters of proxy traits for resistance to MAP, identify genomic regions associated with the host’s immune response against MAP and search for candidate genes and causative mutations through association and functional annotation analyses of polymorphisms identified by sequencing. Two variables were derived from ELISA tests. The first, a binary variable, assessed the infection status of each animal over the entire productive life, while the second considered the level of antibody recorded over time. Very similar results were obtained for both variables. Heritability estimates of about 0.20 were found and a significant region capturing 18% and 13% of the genetic variance was detected on ovine chromosome 20 by linkage disequilibrium and linkage analysis on OvineSNP50 positions. Functional annotation and association analyses on the imputed sequence polymorphisms that were identified in this region were carried out. No significant variants showed a functional effect on the genes that mapped to this region, most of which belong to the major histocompatibility complex class II (MHC II). However, the conditional analysis led to the identification of two significant polymorphisms that can explain the genetic variance associated with the investigated genomic region. Our results confirm the involvement of the host’s genetics in susceptibility to MAP in sheep and suggest that selective breeding may be an option to limit the infection. The estimated heritability is moderate with a relevant portion being due to a highly significant region on ovine chromosome 20. The results of the combined use of sequence-based data and functional analyses suggest several genes belonging to the MHC II as the most likely candidates, although no mutations in their coding regions showed a significant association. Nevertheless, information from genotypes of two highly significant polymorphisms in the region can enhance the efficiency of selective breeding programs.
副结核病是一种由副结核分枝杆菌(MAP)引起的传染性不治之症,对动物福利和农场收益有重大负面影响。我们以 12 年来受自然感染的大群为基础,分析了重复酶联免疫吸附试验 (ELISA)、OvineSNP50 BeadChip 基因分型和 56 只受影响动物的全基因组序列。主要目的是估算抗MAP替代性状的遗传参数,确定与宿主对MAP的免疫反应相关的基因组区域,并通过对测序确定的多态性进行关联和功能注释分析,寻找候选基因和致病突变。从 ELISA 检测中得出了两个变量。第一个变量是二进制变量,评估每只动物在整个生产过程中的感染状况,第二个变量则考虑了一段时间内记录的抗体水平。两个变量的结果非常相似。遗传率估计值约为 0.20,通过对 OvineSNP50 位置的连锁不平衡和连锁分析,在绵羊 20 号染色体上发现了一个重要区域,分别占遗传变异的 18% 和 13%。对在该区域发现的估算序列多态性进行了功能注释和关联分析。没有发现明显的变异对映射到该区域的基因有功能性影响,这些基因大多属于主要组织相容性复合体 II 类(MHC II)。不过,通过条件分析发现了两个重要的多态性,它们可以解释与所调查基因组区域相关的遗传变异。我们的研究结果证实,宿主的遗传参与了绵羊对 MAP 的易感性,并表明选择性育种可能是限制感染的一种选择。估计的遗传率是中等的,其中相关部分是由于绵羊 20 号染色体上的一个高度显著的区域造成的。综合利用序列数据和功能分析的结果表明,属于 MHC II 的几个基因最有可能是候选基因,尽管其编码区的突变没有显示出显著的关联性。不过,从该区域两个高度显著的多态性基因型中获得的信息可以提高选择性育种计划的效率。
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Genetics Selection Evolution
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