Quantitative Trait, Heritable

定量特征 ,可遗传
  • 文章类型: Journal Article
    基因型与环境(GEI)之间的相互作用显着影响植物的性能,对于育种计划和最终提高作物生产力至关重要。在GEI旁边,育种者在寻求提高产量的过程中遇到了另一个障碍,关键性状之间的显著负相关和负相关。本研究探讨了白糖产量(WSY)的稳定性,根系产量(RY),含糖量(SC),糖提取系数(ECS),以及包括RY在内的基本特征之间的相互作用,SC,α氨基氮(N),钠(Na+),15个甜菜杂种和三个对照品种的钾(K)。调查连续两年(2022-2023年)跨越两个地点,采用随机完整的区组设计,重复四次,全面分析这些因素。方差分析强调了环境的显著影响,基因型,和GEI在1%的概率水平。值得注意的是,GEI的AMMI分析揭示了第一成分对WSY的重要性,RY,SC,前两个组件对ECS具有重要意义。在线性混合模型(LMM)中,WSY,RY,SC,ECS显示出基因型和GEI的显着影响。在WAASB双图中,基因型10、8、17、6、13、14、15、7、12和16在WSY中表现出稳定性,而基因型9、10、6、14、7、8、13、12、18和15在RY中表现出稳定性。此外,基因型10、15、12、13、16、17、6和14对于SC是稳定的,基因型8、10、7、6、13、12、16、17、15、14和18在ECS中显示出稳定性,拥有高于平均水平的产量值。在按产量×性状(GYT)双plot的基因型中,基因型15、18和16在结合RY和SC时表现最好,Na+,N,K+,表明它们有可能被纳入育种计划。
    The interaction between genotype and environment (GEI) significantly influences plant performance, crucial for breeding programs and ultimately boosting crop productivity. Alongside GEI, breeders encounter another hurdle in their quest for yield improvement, notably adverse and negative correlations among pivotal traits. This study delved into the stability of white sugar yield (WSY), root yield (RY), sugar content (SC), extraction coefficient of sugar (ECS), and the interplay among essential traits including RY, SC, alpha amino nitrogen (N), sodium (Na+), and potassium (K+) across 15 sugar beet hybrids and three control varieties. The investigation spanned two locations over two consecutive years (2022-2023), employing a randomized complete block design with four replications to comprehensively analyze these factors. The analysis of variance highlighted the significant effects of environment, genotype, and GEI at the 1% probability level. Notably, the AMMI analysis of GEI revealed the significance of the first component for WSY, RY, and SC, with the first two components proving significant for ECS. Within the linear mixed model (LMM), WSY, RY, SC, and ECS demonstrated significant effects from both genotype and GEI. In the WAASB biplot, genotypes 10, 8, 17, 6, 13, 14, 15, 7, 12, and 16 exhibited stability in WSY, while genotypes 9, 10, 6, 14, 7, 8, 13, 12, 18, and 15 displayed stability in RY. Additionally, genotypes 10, 15, 12, 13, 16, 17, 6, and 14 were stable for SC, and genotypes 8, 10, 7, 6, 13, 12, 16, 17, 15, 14, and 18 showcased stability in ECS, boasting above-average yield values. In the genotype by yield × trait (GYT) biplot, genotypes 15, 18, and 16 emerged as top performers when combining RY with SC, Na+, N, and K+, suggesting their potential for inclusion in breeding programs.
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  • 文章类型: Journal Article
    热应力带来了重大的环境挑战,对小麦生产力产生了深远的影响。它会破坏重要的生理过程,如光合作用,通过阻碍光合装置的功能和损害质膜稳定性,从而不利地影响小麦的谷物发育。与耐热性相关的已识别标记性状关联的缺乏在针对热应激的标记辅助选择策略的开发中存在巨大障碍。为了解决这个问题,小麦种质系统地暴露在正常和热胁迫条件下,并收集了包括脯氨酸含量在内的生理性状的表型数据,冠层温度下降,细胞膜损伤,光合速率,蒸腾速率(在营养和生殖阶段和“保持绿色”。主成分分析阐明了最重要的贡献者是脯氨酸含量,蒸腾速率,和冠层温度下降,与籽粒产量呈协同关系。值得注意的是,聚类分析根据生理属性将小麦种质划分为四个离散组。此外,探讨生理性状与DNA标记的关系,用186个SSR对158个小麦种质进行了基因分型。发现等位基因频率和多态信息含量值在基因组A上最高(4.94和0.688),染色体1A(5.00和0.712),和标记Xgwm44(13.0和0.916)。人口结构,主坐标分析和聚类分析还根据基因型数据将小麦种质划分为四个亚群,强调它们的遗传同质性。种群多样性和连锁不平衡的存在确定了种群对关联映射的适用性。此外,连锁不平衡衰减在染色体1A的15-20cM区域内最为明显。关联图谱显示,在Bonferroni校正P<0.00027时,标记性状关联非常显著。标记Xwmc418(位于染色体3D)和Xgwm233(染色体7A)显示与蒸腾速率相关,而标记Xgwm494(染色体3A)在热胁迫条件下在营养和生殖阶段均表现出与光合速率的关联。此外,标记Xwmc201(染色体6A)和Xcfa2129(染色体1A)显示出与冠层温度降低的强关联,而标记物Xbarc163(染色体4B)和Xbarc49(染色体5A)在两个阶段都与细胞膜损伤密切相关。值得注意的是,标记Xbarc49(5A染色体)在热应激条件下与“保持绿色”性状显着相关。这些结果为标记辅助选择提供了潜在的效用,基因金字塔和基因组选择模型,以预测热胁迫条件下小麦的表现。
    Heat stress poses a significant environmental challenge that profoundly impacts wheat productivity. It disrupts vital physiological processes such as photosynthesis, by impeding the functionality of the photosynthetic apparatus and compromising plasma membrane stability, thereby detrimentally affecting grain development in wheat. The scarcity of identified marker trait associations pertinent to thermotolerance presents a formidable obstacle in the development of marker-assisted selection strategies against heat stress. To address this, wheat accessions were systematically exposed to both normal and heat stress conditions and phenotypic data were collected on physiological traits including proline content, canopy temperature depression, cell membrane injury, photosynthetic rate, transpiration rate (at vegetative and reproductive stage and \'stay-green\'. Principal component analysis elucidated the most significant contributors being proline content, transpiration rate, and canopy temperature depression, which exhibited a synergistic relationship with grain yield. Remarkably, cluster analysis delineated the wheat accessions into four discrete groups based on physiological attributes. Moreover, to explore the relationship between physiological traits and DNA markers, 158 wheat accessions were genotyped with 186 SSRs. Allelic frequency and polymorphic information content value were found to be highest on genome A (4.94 and 0.688), chromosome 1A (5.00 and 0.712), and marker Xgwm44 (13.0 and 0.916). Population structure, principal coordinate analysis and cluster analysis also partitioned the wheat accessions into four subpopulations based on genotypic data, highlighting their genetic homogeneity. Population diversity and presence of linkage disequilibrium established the suitability of population for association mapping. Additionally, linkage disequilibrium decay was most pronounced within a 15-20 cM region on chromosome 1A. Association mapping revealed highly significant marker trait associations at Bonferroni correction P < 0.00027. Markers Xwmc418 (located on chromosome 3D) and Xgwm233 (chromosome 7A) demonstrated associations with transpiration rate, while marker Xgwm494 (chromosome 3A) exhibited an association with photosynthetic rates at both vegetative and reproductive stages under heat stress conditions. Additionally, markers Xwmc201 (chromosome 6A) and Xcfa2129 (chromosome 1A) displayed robust associations with canopy temperature depression, while markers Xbarc163 (chromosome 4B) and Xbarc49 (chromosome 5A) were strongly associated with cell membrane injury at both stages. Notably, marker Xbarc49 (chromosome 5A) exhibited a significant association with the \'stay-green\' trait under heat stress conditions. These results offers the potential utility in marker-assisted selection, gene pyramiding and genomic selection models to predict performance of wheat accession under heat stress conditions.
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  • 文章类型: Journal Article
    我们介绍了用于预测拟南芥四个数量性状的机器学习方法的比较。在1001个拟南芥基因组项目的标准化实验室条件下生长的个体上实现了高预测精度。现有的证据表明,线性模型可能会因无法利用非加性效应来解释人口水平的表型变异而受到阻碍。此处提供的结果使用嵌套交叉验证方法来确认某些机器学习方法具有统计上优于线性预测模型的能力,最佳模型取决于训练数据的可用性和所讨论特征的遗传结构。根据以前的工作,线性模型在性能上具有竞争力,尽管观察到神经网络类的预测因子对于具有高遗传力的性状是最准确和最稳健的。非线性模型利用相互作用效应的程度将需要进一步研究其预测背后的因果途径。未来的工作利用更多的特征和更大的样本量,结合对各自遗传结构的更好理解,可能会导致预测准确性的提高。
    We present a comparison of machine learning methods for the prediction of four quantitative traits in Arabidopsis thaliana. High prediction accuracies were achieved on individuals grown under standardized laboratory conditions from the 1001 Arabidopsis Genomes Project. An existing body of evidence suggests that linear models may be impeded by their inability to make use of non-additive effects to explain phenotypic variation at the population level. The results presented here use a nested cross-validation approach to confirm that some machine learning methods have the ability to statistically outperform linear prediction models, with the optimal model dependent on availability of training data and genetic architecture of the trait in question. Linear models were competitive in their performance as per previous work, though the neural network class of predictors was observed to be the most accurate and robust for traits with high heritability. The extent to which non-linear models exploit interaction effects will require further investigation of the causal pathways that lay behind their predictions. Future work utilizing more traits and larger sample sizes, combined with an improved understanding of their respective genetic architectures, may lead to improvements in prediction accuracy.
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  • 文章类型: Journal Article
    本研究旨在揭示花椒穗部性状的多样性和变异,阐明其对花椒系统分类的影响,为花椒种质资源的高效利用和育种提供理论依据和技术支持。2021-2022年从35份花椒种质资源中鉴定出16个穗部性状。利用方差研究了这些穗部性状的多样性及其在植物系统分类中的作用,相关性,群集,和主成分分析。聚类分析表明,35份花椒种质资源可分为两组,欧氏距离为25。进一步分析表明,穗长等产量性状,圆锥花序宽度,初级分支,每穗粒数,每穗粒重与籽粒叶绿素含量呈极显著正相关,而籽粒花色苷含量与双穗呈负相关(穗长,圆锥花序宽度,圆锥花序长宽比,初级分支,每穗粒数,和每穗粒重)和粒重(单粒重,千粒重,粒长,粒宽和果形指数)。总之,花椒种质具有多样化的穗部性状。Z.Armatum有深绿色的颗粒,又长又宽的圆锥花序,长圆锥形,许多主要分支,高粒重,每穗粒数高。相比之下,Z.bungeanum有鲜红色的种子,圆锥花序的宽度大于其长度,短而锥形的圆锥花序,少量的主要分支机构,每穗粒重低,每穗粒数低。总的来说,与Z.bungeanum相比,Z.Armatum具有显着的产量优势。
    This study aimed to reveal the diversity and variation in panicle traits of the Chinese prickly ash and clarify their influence on the its systematic classification to provide a theoretical basis and technical support for the efficient utilization of Chinese prickly ash germplasm resources and breeding. Sixteen panicle traits were identified from 35 Chinese prickly ash germplasm resources from 2021 to 2022. The diversity of these panicle traits and their role in the plant\'s systematic classification were studied using variance, correlation, cluster, and principal component analyses. Cluster analysis showed that the 35 Chinese prickly ash germplasm resources could be divided into two groups with Euclidean distances of 25. Further analysis showed that yield traits such as panicle length, panicle width, primary branching, grain number per panicle, and grain weight per panicle were significantly positively correlated with grain chlorophyll content, while grain anthocyanin content was negatively correlated with both panicle (panicle length, panicle width, panicle length to width ratio, primary branching, grain number per panicle, and grain weight per panicle) and grain characteristics (single grain weight, thousand-grain weight, grain length, grain width and fruit shape index). In conclusion, Chinese prickly ash germplasms have diverse panicle traits. Z. armatum has dark green grains, long and wide panicles, a long conical shape, many primary branches, high grain weight, and high grain number per panicle. In contrast, Z. bungeanum has bright red seeds, a panicle width larger than its length, short and conical panicles, a small number of primary branches, and low grain weight per panicle and number of grains per panicle. Overall, Z. armatum had a significant yield advantage over Z. bungeanum.
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  • 文章类型: Journal Article
    Betong鸡肉(KU系列)是一种生长缓慢的泰国本地鸡肉,用于肉类生产。这项研究的目的是确定calpain1(CAPN1)和calpain3(CAPN3)基因的多态性,并研究它们对生长的影响。屠体,Betong鸡(KU系)的肉质性状。对252只Betong鸡(KU系)的样本进行了CAPN1和CAPN3多态性筛选。采用凝胶电泳和DNA测序法检测CAPN1基因多态性,而CAPN3的多态性是使用限制性片段长度多态性鉴定的。在两个CAPN1(AA,AB,和BB基因型)和CAPN3(CC,CT,和TT基因型)。CAPN1中B等位基因的频率高于A等位基因(分别为0.78和0.22),而CAPN3中C等位基因的频率高于T等位基因(分别为0.54和0.46)。CAPN1基因型以及CAPN1和CAPN3基因型的组合可以用作肉亮度的遗传标记。CAPN3可能有助于增加体重,活重,Betong鸡的胸肉重量(KU线)。
    Betong chicken (KU line) is a slow-growing Thai native chicken used for meat production. The objectives of this study were to identify polymorphisms of the calpain1 (CAPN1) and calpain3 (CAPN3) genes and to investigate their effects on growth, carcass, and meat quality traits in Betong chickens (KU line). A sample of 252 Betong chickens (KU line) was screened for CAPN1 and CAPN3 polymorphisms. The polymorphisms of CAPN1 were detected using gel electrophoresis and DNA sequencing, whereas the polymorphisms of CAPN3 were identified using restriction fragment length polymorphism. Polymorphisms were detected in both CAPN1 (AA, AB, and BB genotypes) and CAPN3 (CC, CT, and TT genotypes). The frequency of the B allele was higher than for the A allele (0.78 and 0.22, respectively) in CAPN1, while the C allelic frequency was higher than for the T allele (0.54 and 0.46, respectively) in CAPN3. The CAPN1 genotype and the combination of the CAPN1 and CAPN3 genotypes could be used as genetic markers for meat lightness. The CAPN3 could be useful for increasing body weight, live weight, and breast meat weight in Betong chickens (KU line).
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  • 文章类型: Journal Article
    牛的遗传改良能够提供最高的经济效率。具有最佳外部特征的动物通常具有最高的生产力和非特异性抗性指标。为了鉴定单核苷酸多态性(SNP)标记和基因,可能对艾尔郡牛的构象性状负责,我们进行了一项全基因组关联研究(GWAS).从495只小牛艾尔郡小母牛中收集了血液样本。对于所有的动物来说,进行了线性评估,由17个构象性状和13个外部缺陷组成。我们的研究揭示了BTA1、2、3、4、5、6、7、8、9、11、12、14、16、18、19、22、25、27和29号染色体上共有43个SNP与构象相关性状,其中四个达到了重要门槛。在这四个重要的SNP中,确定了与外部缺陷相关的基因,例如倾斜的乳房地板和弱腰部以及与弱背部相关的SNP。在相应的基因组区域中鉴定的标记和基因是进一步研究涉及奶牛外部形成和功能的生物学过程的有希望的候选者。获得的结果,包括与弱腰相关的MYO1B基因,与倾斜乳房地板相关的PEPD和ZFC3H1基因,与弱背相关的EDNRB基因可以有效地用作基因组选择程序中的分子标记。
    The genetic improvement of cattle is able to provide the highest economic efficiency. Animals with best external features often have the highest indicators of productivity and nonspecific resistance. In order to identify single nucleotide polymorphism (SNP) markers and genes, potentially responsible for conformation traits of Ayrshire cattle, we conducted a genome-wide association study (GWAS). Blood samples were collected from 495 first-calf Ayrshire heifers. For all animals, a linear assessment was carried out, which consisted of 17 conformation traits and 13 exterior flaws. Our study revealed a total of 43 SNPs on chromosomes BTA1, 2, 3, 4, 5, 6, 7, 8, 9, 11, 12, 14, 16, 18, 19, 22, 25, 27, and 29 associated with conformation traits, four of which have met the significance threshold. Among these four significant SNPs, genes associated with exterior flaws such as tilted udder floor and weak loin and SNPs associated with weak back were identified. The markers and genes identified in the corresponding genomic regions are promising candidates for further investigation of the biological processes involved in cow exterior formation and function. The results obtained, including the MYO1B gene associated with weak loin, PEPD and ZFC3H1 genes related to tilted udder floor, and EDNRB gene associated with weak back can be effectively used as molecular markers in genomic selection programs.
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  • 文章类型: Journal Article
    背景:全基因组标记数据的区域可能对评估的性状具有不同的影响。这可以通过为标记分配不同的权重来反映在基因组模型中,这可以提高基因组预测的准确性。然而,当允许性状具有不同的标记权重时,标准的多性状单步基因组评估模型在计算上是不可行的。
    结果:在这项研究中,我们开发并实施了用于大型基因组数据评估的多性状单步单核苷酸多态性最佳线性无偏预测(SNPBLUP)模型,该模型允许使用预先计算的性状特异性标记权重.对标准单步SNPBLUP模型的修改很小,并且没有显着增加预处理工作量。使用模拟数据和使用BayesA预先计算的标记权重对模型进行了测试。根据结果,与没有权重的标准单步模型相比,每次迭代的内存需求和计算时间略有增加。此外,当使用标记权重时,模型的收敛速度较慢,这导致了更长的总计算时间。使用标记权重,然而,提高预测精度。
    结论:我们研究了可用于适应性状特异性标记权重的单步SNPBLUP模型。标记加权单步模型提高了预测精度。该方法可用于使用预先计算的标记权重的大型基因组数据评估。
    BACKGROUND: Regions of genome-wide marker data may have differing influences on the evaluated traits. This can be reflected in the genomic models by assigning different weights to the markers, which can enhance the accuracy of genomic prediction. However, the standard multi-trait single-step genomic evaluation model can be computationally infeasible when the traits are allowed to have different marker weights.
    RESULTS: In this study, we developed and implemented a multi-trait single-step single nucleotide polymorphism best linear unbiased prediction (SNPBLUP) model for large genomic data evaluations that allows for the use of precomputed trait-specific marker weights. The modifications to the standard single-step SNPBLUP model were minor and did not significantly increase the preprocessing workload. The model was tested using simulated data and marker weights precomputed using BayesA. Based on the results, memory requirements and computing time per iteration slightly increased compared to the standard single-step model without weights. Moreover, convergence of the model was slower when using marker weights, which resulted in longer total computing time. The use of marker weights, however, improved prediction accuracy.
    CONCLUSIONS: We investigated a single-step SNPBLUP model that can be used to accommodate trait-specific marker weights. The marker-weighted single-step model improved prediction accuracy. The approach can be used for large genomic data evaluations using precomputed marker weights.
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  • 文章类型: Journal Article
    豌豆(PisumsativumL.)由于其高昂的价格和需求,需要改进以提高生产率。然而,白粉病(PM)的发病率限制了其生产。本研究旨在通过聚类分析和主成分分析来探索抗白粉病的定性和定量性状的多样性,以探索抗PM高产潜力的田间豌豆。Shannon-Weaver的多样性指数(H')在定量和定性方面都显示出很高的基因型内多样性。已鉴定出异质性对白粉病感染的抗性。使用Mohalanobis广义距离(D2)统计将85个基因型分为五组。在簇2和3之间观察到最高的簇间D2值(11.89),而在簇3和4之间发现最低值(2.06)。大多数基因型都有明显的差异,所以这些可以在交叉计划中使用。十二种基因型具有极强的抗性,29个基因型具有抗性,25个基因型中度耐药,18种基因型相当易感,1基因型易感白粉病。在29种抗性基因型中,BFP77,BFP74,BFP63,BFP62,BFP43和BFP80是高yelders,可以直接使用和/或通过杂交转移到高产的疾病易感基因型。在25种中度耐药基因型中,BFP78,BFP45,BFP79和BFP48被发现是高产量的。在主成分分析(PCA)中,Eigen值>1的前四个PC的数量性状变异性为88.4%。将基因型聚类分为五组,其中第1至5组组装了37、28、1、8和11个基因型,分别。簇4的基因型被鉴定为具有其属性的高产量者。除PM外,所有性状的Pearson相关性均显着且呈正相关。这种变异表明,有一种机制可以为豌豆育种选择有前途的基因型。考虑到所有功能,BFP78,BFP77,BFP74,BFP63,BFP62,BFP45,BFP79和BFP80可能是由于较长的豆荚长度而优选的高屈服和抗PM性,每株豆荚种子和每株豆荚。
    Field pea (Pisum sativum L.) needs improvement to increase productivity due to its high price and demand. However, the incidence of powdery mildew (PM) disease limits its production. This study aimed to analyze the diversity of qualitative and quantitative traits against powdery mildew resistance by utilizing cluster and principal component analysis to explore PM resistance high-yield potential field peas. Shannon-Weaver\'s diversity index (H\') displayed high intra-genotype diversity for quantitative and qualitative aspects. Heterogeneity was identified for resistance against powdery mildew infections. Eighty-five genotypes were divided into five groups using Mohalanobis generalized distance (D2) statistics. The highest inter-cluster D2 value was observed between clusters 2 and 3 (11.89) while the lowest value was found between clusters 3 and 4 (2.06). Most of the genotypes had noticeable differences, so these could be employed in a crossing scheme. Twelve genotypes were extremely resistant, 29 genotypes were resistant, 25 genotypes were moderately resistant, 18 genotypes were fairly susceptible, and 1 genotype was susceptible to powdery mildew disease. Among 29 resistant genotypes, BFP77, BFP74, BFP63, BFP62, BFP43, and BFP80 were high yielders and, could be used directly and/or transferred through hybridization to high-yielding disease-susceptible genotypes. Among the 25 moderately resistant genotypes, BFP78, BFP45, BFP79, and BFP48 were found to be high yielders. In principal component analysis (PCA), the first four PCs with Eigen values > 1 accounted for 88.4% variability for quantitative traits. Clustering sorted genotypes into five groups, where groups 1 to 5 assembled 37, 28, 1, 8, and 11 genotypes, respectively. Genotypes of cluster 4 were identified as high yielders with its attributes. Pearson correlation significantly and positively correlated across all traits except for PM. This variation suggested that there is a mechanism to select promising genotypes for field pea breeding. Considering all features, BFP78, BFP77, BFP74, BFP63, BFP62, BFP45, BFP79, and BFP80 could be preferred as high yielders and PM resistance owing to longer pod lengths, seeds per pod and pods per plant.
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  • 文章类型: Journal Article
    我们提出了一种新的方法,通过利用非结构化的全基因组关联研究(GWAS),口头表型描述,以确定与玉米性状相关的基因组区域。利用威斯康星州多样性小组,我们收集了ZeaMaysssp的口头描述。Mays特征,将这些定性观察结果转换为适合GWAS分析的定量数据。首先,我们确定可以从非结构化的口语表型描述中检测到视觉上醒目的表型.接下来,我们开发了两种方法来处理相同的描述以得出性状植物高度,玉米中具有良好特征的表型特征:(1)语义相似性度量,根据每个观察值与\'高度\'概念的相似性分配分数;(2)手动评分系统,对与植物高度相关的短语进行分类和分配值。我们的分析成功地证实了已知的基因组关联,并发现了可能与植物高度相关的新候选基因。这些基因中的一些与基因本体论术语相关,这表明可能参与确定植物的身材。这个概念证明证明了口语表型描述在GWAS中的可行性,并引入了一个可扩展的框架,用于将非结构化语言数据纳入遗传关联研究。这种方法不仅有可能丰富GWAS中使用的表型数据,并增强与复杂性状相关的遗传元件的发现,而且还可以扩展可用于田间环境的表型数据收集方法。
    We present a novel approach to genome-wide association studies (GWAS) by leveraging unstructured, spoken phenotypic descriptions to identify genomic regions associated with maize traits. Utilizing the Wisconsin Diversity panel, we collected spoken descriptions of Zea mays ssp. mays traits, converting these qualitative observations into quantitative data amenable to GWAS analysis. First, we determined that visually striking phenotypes could be detected from unstructured spoken phenotypic descriptions. Next, we developed two methods to process the same descriptions to derive the trait plant height, a well-characterized phenotypic feature in maize: (1) a semantic similarity metric that assigns a score based on the resemblance of each observation to the concept of \'tallness\' and (2) a manual scoring system that categorizes and assigns values to phrases related to plant height. Our analysis successfully corroborated known genomic associations and uncovered novel candidate genes potentially linked to plant height. Some of these genes are associated with gene ontology terms that suggest a plausible involvement in determining plant stature. This proof-of-concept demonstrates the viability of spoken phenotypic descriptions in GWAS and introduces a scalable framework for incorporating unstructured language data into genetic association studies. This methodology has the potential not only to enrich the phenotypic data used in GWAS and to enhance the discovery of genetic elements linked to complex traits but also to expand the repertoire of phenotype data collection methods available for use in the field environment.
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  • 文章类型: Journal Article
    背景:基于其预测的育种值和相关个体的交配来选择个体,可以增加按血统相同的等位基因的比例。在这种情况下,这项研究的目的是根据替代指标和数据来源,如谱系(FPED),估计近交系数。混合基因组关系矩阵H(FH),和不同长度的ROH(FROH);并计算选择体重调整为378日龄(W378)的封闭Nellore牛种群中不同指标之间的Pearson相关性。除了总FROH(所有类别)系数外,还根据ROH段的大小类别进行了估算:FROH1(1-2Mb),FROH2(2-4Mb),FROH3(4-8Mb),FROH4(8-16Mb),和FROH5(>16Mb),和每个染色体(FROH_CHR)。此外,我们评估了每种近亲繁殖指标对出生体重(BW)的影响,体重调整为210(W210)和W378,阴囊周长(SC),和剩余饲料摄入量(RFI)。我们还评估了近交对生长性状的染色体特异性影响。
    结果:FPED与FROH的相关性为0.60,FH与FROH的相关性为0.69和0.61。FPED的近亲繁殖年比率为0.16%,FH为0.02%,FROH为0.16%。FROH5的1%增加导致W210和W378的减少高达-1.327±0.495kg。四个近交系数(FPED,FH,FROH2和FROH5)对W378有显著影响,FROH2每增加1%,减少量高达-3.810±1.753kg。FPED对RFI(0.01±0.0002kg干物质/天)和FROH对SC(-0.056±0.022cm)有不利影响。计算的BTA3,BTA5和BTA8的FROH_CHR系数显着影响生长性状。
    结论:所有评价性状均观察到近交抑郁。然而,对于用于选择动物的标准,这些影响更大(即,W378).与基于系谱的近交相比,基因组近交的增加与所评估性状的近交抑制更高相关。在交配过程中,基因组信息应用作优化近亲繁殖控制的工具,因此,最大限度地减少内洛尔牛的近亲繁殖抑郁症。
    BACKGROUND: The selection of individuals based on their predicted breeding values and mating of related individuals can increase the proportion of identical-by-descent alleles. In this context, the objectives of this study were to estimate inbreeding coefficients based on alternative metrics and data sources such as pedigree (FPED), hybrid genomic relationship matrix H (FH), and ROH of different length (FROH); and calculate Pearson correlations between the different metrics in a closed Nellore cattle population selected for body weight adjusted to 378 days of age (W378). In addition to total FROH (all classes) coefficients were also estimated based on the size class of the ROH segments: FROH1 (1-2 Mb), FROH2 (2-4 Mb), FROH3 (4-8 Mb), FROH4 (8-16 Mb), and FROH5 (> 16 Mb), and for each chromosome (FROH_CHR). Furthermore, we assessed the effect of each inbreeding metric on birth weight (BW), body weights adjusted to 210 (W210) and W378, scrotal circumference (SC), and residual feed intake (RFI). We also evaluated the chromosome-specific effects of inbreeding on growth traits.
    RESULTS: The correlation between FPED and FROH was 0.60 while between FH and FROH and FH and FPED were 0.69 and 0.61, respectively. The annual rate of inbreeding was 0.16% for FPED, 0.02% for FH, and 0.16% for FROH. A 1% increase in FROH5 resulted in a reduction of up to -1.327 ± 0.495 kg in W210 and W378. Four inbreeding coefficients (FPED, FH, FROH2, and FROH5) had a significant effect on W378, with reductions of up to -3.810 ± 1.753 kg per 1% increase in FROH2. There was an unfavorable effect of FPED on RFI (0.01 ± 0.0002 kg dry matter/day) and of FROH on SC (-0.056 ± 0.022 cm). The FROH_CHR coefficients calculated for BTA3, BTA5, and BTA8 significantly affected the growth traits.
    CONCLUSIONS: Inbreeding depression was observed for all traits evaluated. However, these effects were greater for the criterion used for selection of the animals (i.e., W378). The increase in the genomic inbreeding was associated with a higher inbreeding depression on the traits evaluated when compared to pedigree-based inbreeding. Genomic information should be used as a tool during mating to optimize control of inbreeding and, consequently, minimize inbreeding depression in Nellore cattle.
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