genome-wide association analysis

全基因组关联分析
  • 文章类型: Journal Article
    种子活力通过影响种子萌发和幼苗生长发育,显著影响花生育种和农业产量。传统的活力测试方法不足以用于现代高通量测定。尽管高光谱技术显示出监测各种作物性状的潜力,其在预测花生种子活力方面的应用还很有限。本研究开发并验证了一种将高光谱技术与全基因组关联研究(GWAS)相结合的方法,以实现对种子活力的高通量检测并鉴定相关功能基因。以不同花生种子群体的高光谱表型数据和生理指标为输入数据,利用机器学习回归算法构建模型,准确监测活力变化。将191个花生品种的模型预测表型数据用于GWAS,基于基因的关联研究,和单倍型分析来筛选功能基因。采用实时荧光定量PCR(qPCR)技术对3个高活力和3个低活力种质中功能基因的表达进行分析。结果表明,随机森林和支持向量机模型提供了有效的表型数据。我们确认了Arahy的身份.VMLN7L和Arahy.7XWF6F,和Arahy在一起.VMLN7L负调节种子活力,Arahy.7XWF6F正调节种子活力,提出了不同的监管机制。这项研究证实了基于高光谱表型的GWAS揭示了种子活力水平的遗传关系,为未来的花生育种提供新的见解和方向,加速基因改良,提高农业产量。这种方法可以扩展到监测和探索各种作物的种质和其他关键变量。
    Seed vigor significantly affects peanut breeding and agricultural yield by influencing seed germination and seedling growth and development. Traditional vigor testing methods are inadequate for modern high-throughput assays. Although hyperspectral technology shows potential for monitoring various crop traits, its application in predicting peanut seed vigor is still limited. This study developed and validated a method that combines hyperspectral technology with genome-wide association studies (GWAS) to achieve high-throughput detection of seed vigor and identify related functional genes. Hyperspectral phenotyping data and physiological indices from different peanut seed populations were used as input data to construct models using machine learning regression algorithms to accurately monitor changes in vigor. Model-predicted phenotypic data from 191 peanut varieties were used in GWAS, gene-based association studies, and haplotype analyses to screen for functional genes. Real-time fluorescence quantitative PCR (qPCR) was used to analyze the expression of functional genes in three high-vigor and three low-vigor germplasms. The results indicated that the random forest and support vector machine models provided effective phenotypic data. We identified Arahy.VMLN7L and Arahy.7XWF6F, with Arahy.VMLN7L negatively regulating seed vigor and Arahy.7XWF6F positively regulating it, suggesting distinct regulatory mechanisms. This study confirms that GWAS based on hyperspectral phenotyping reveals genetic relationships in seed vigor levels, offering novel insights and directions for future peanut breeding, accelerating genetic improvements, and boosting agricultural yields. This approach can be extended to monitor and explore germplasms and other key variables in various crops.
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  • 文章类型: Journal Article
    异黄酮是大豆苯丙生物合成途径的次生代谢产物,具有生理活性,对人体健康有益。在这项研究中,2020年3个地点的205份大豆种质资源异黄酮含量表现出广泛的表型变异。联合全基因组关联研究(GWAS)和加权基因共表达网络分析(WGCNA)确定了与大豆异黄酮含量相关的33个单核苷酸多态性和11个关键基因。基因本体论富集分析,基因共表达,和单倍型分析揭示了Glyma.12G109800(GmOMT7)基因和启动子区的天然变异,Hap1是精英单倍型。GmOMT7的瞬时过表达和敲除增加并降低了异黄酮含量,分别,在毛茸茸的根部。GWAS和WGCNA的结合有效揭示了大豆异黄酮的遗传基础,并确定了影响大豆异黄酮合成和积累的潜在基因。为大豆异黄酮的功能研究提供了有价值的依据。
    Isoflavone is a secondary metabolite of the soybean phenylpropyl biosynthesis pathway with physiological activity and is beneficial to human health. In this study, the isoflavone content of 205 soybean germplasm resources from 3 locations in 2020 showed wide phenotypic variation. A joint genome-wide association study (GWAS) and weighted gene coexpression network analysis (WGCNA) identified 33 single-nucleotide polymorphisms and 11 key genes associated with soybean isoflavone content. Gene ontology enrichment analysis, gene coexpression, and haplotype analysis revealed natural variations in the Glyma.12G109800 (GmOMT7) gene and promoter region, with Hap1 being the elite haplotype. Transient overexpression and knockout of GmOMT7 increased and decreased the isoflavone content, respectively, in hairy roots. The combination of GWAS and WGCNA effectively revealed the genetic basis of soybean isoflavone and identified potential genes affecting isoflavone synthesis and accumulation in soybean, providing a valuable basis for the functional study of soybean isoflavone.
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  • 文章类型: Journal Article
    饮食摄入与炎症性关节炎(IA)的风险和严重程度之间的因果关系目前尚不清楚。
    在这项研究中,我们旨在使用孟德尔随机化(MR)研究9种饮食类别(30种饮食)与IA之间的因果关系.
    我们在全基因组关联研究(GWAS)中分析了来自30种饮食和IA的数据。可影响MR分析结果的单核苷酸多态性(SNPs)通过孟德尔随机化PleiotropionSresidualSum和离群值(MR-PRESSO)检验进行筛选。SNP通过双样本双向MR使用逆方差加权进行分析,MR-Egger回归,和加权中位数法。使用MR-Egger截距项检验和Cochran'sQ检验评估SNP的多重性和异质性。使用FDR校正来校正p值。
    IVW结果表明,牛肉摄入量[赔率(OR)=2.862;95%置信区间(CI),1.360-6.021,p=0.006,p_fdr<0.05]与类风湿关节炎(RA)呈正相关;干果摄入量(OR=0.522;95%CI,0.349-0.781,p=0.002,p_fdr<0.05),铁摄入量(OR=0.864;95CI,0.777-0.960,p=0.007,p_fdr<0.05)与RA呈负相关,所有这些都是意义的证据。新鲜水果摄入量(OR=2.528。95%CI,1.063-6.011,p=0.036,p_fdr>0.05)与银屑病关节炎(PsA)呈正相关;奶酪摄入量(OR=0.579;95%CI,0.367-0.914,p=0.019,p_fdr>0.05)与PsA呈负相关;两者均为提示证据。加工肉类摄入量(OR=0.238;95%CI,0.100-0.565,p=0.001,p_fdr<0.05)与反应性关节炎(ReA)呈负相关,保护因素,和重要的证据。所有暴露数据均通过异质性检查(Cochrane的Q检验p>0.05),未检测到方向性多效性。留一法分析证明了积极结果中因果关系的稳健性。
    我们的研究提供了遗传证据支持饮食与IA风险增加之间的因果关系。它还确定了各种饮食方式和不同类型IA之间的因果关系。这些发现对通过饮食调整预防和管理IA具有重要意义。
    UNASSIGNED: The causal associations between dietary intake and the risk and severity of Inflammatory Arthritis (IA) are currently unknown.
    UNASSIGNED: In this study, we aimed to investigate the causal relationship between nine dietary categories (30 types of diet) and IA using Mendelian randomization (MR).
    UNASSIGNED: We analyzed data from 30 diets and IA in a genome-wide association study (GWAS). Single nucleotide polymorphisms (SNPs) that could influence the results of MR analyses were screened out through the Mendelian Randomization Pleiotropy RESidual Sum and Outlier (MR-PRESSO) test. SNPs were analyzed through two-sample bidirectional MR using inverse variance weighting, MR-Egger regression, and weighted median method. The multiplicity and heterogeneity of SNPs were assessed using MR-Egger intercept term tests and Cochran\'s Q tests. FDR correction was used to correct the p-values.
    UNASSIGNED: IVW results showed that Beef intake [Odds ratio (OR) = 2.862; 95% confidence interval (CI), 1.360-6.021, p = 0.006, p_fdr < 0.05] was positively associated with rheumatoid arthritis(RA); Dried fruit intake (OR = 0.522; 95% CI, 0.349-0.781, p = 0.002, p_fdr < 0.05), and Iron intake (OR = 0.864; 95%CI, 0.777-0.960, p = 0.007, p_fdr < 0.05) were negatively associated with RA, all of which were evidence of significance. Fresh fruit intake (OR = 2.528. 95% CI, 1.063-6.011, p = 0.036, p_fdr > 0.05) was positively associated with psoriatic arthritis (PsA); Cheese intake (OR = 0.579; 95% CI, 0.367-0.914, p = 0.019, p_fdr > 0.05) was negatively associated with PsA; both were suggestive evidence. Processed meat intake (OR = 0.238; 95% CI, 0.100-0.565, p = 0.001, p_fdr < 0.05) was negatively associated with reactive arthritis (ReA), a protective factor, and significant evidence. All exposure data passed the heterogeneity check (Cochrane\'s Q test p > 0.05) and no directional pleiotropy was detected. Leave-one-out analyses demonstrated the robustness of the causal relationship in the positive results.
    UNASSIGNED: Our study presents genetic evidence supporting a causal relationship between diet and an increased risk of IA. It also identifies a causal relationship between various dietary modalities and different types of IA. These findings have significant implications for the prevention and management of IA through dietary modifications.
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  • 文章类型: Journal Article
    结论:QTL定位结合全基因组关联研究,揭示了热带CATETO相关玉米品系YML226中抗北方叶枯病的潜在候选基因,为玉米品种的标记辅助选择提供了基础北方叶枯病(NLB)是一种叶面病害,可导致玉米严重的产量损失。识别和利用NLB抗性基因是预防和控制这种疾病的最有效方法。在这项研究中,以5个重要的玉米自交系为亲本,构建了一个多亲群体,用于鉴定NLB抗性基因座。QTL定位和GWAS分析显示QTLqtl_YML226_1具有最大的表型变异解释(PVE)9.28%,和SNP5-49,193,921共同位于CATO相关系YML226中。该基因座与候选基因Zm00001d014471相关,该基因编码五肽重复(PPR)蛋白。在Zm00001d014471的编码区中,YML226比其它亲本系具有更特异性的SNP。qRT-PCR显示Zm00001d014471在接种和未接种的YML226叶片中的相对表达量显著升高,表明候选基因的表达与NLB抗性相关。分析表明YML226中的较高表达水平可能是由SNP突变引起的。这项研究确定了来自CATETO种质的热带玉米自交系YML226中的NLB抗性候选基因座和基因,从而为利用现代标记辅助育种技术选育抗NLB遗传资源提供理论依据。
    CONCLUSIONS: QTL mapping combined with genome-wide association studies, revealed a potential candidate gene for  resistance to northern leaf blight in the tropical CATETO-related maize line YML226, providing a basis for marker-assisted selection of maize varieties Northern leaf blight (NLB) is a foliar disease that can cause severe yield losses in maize. Identifying and utilizing NLB-resistant genes is the most effective way to prevent and control this disease. In this study, five important inbred lines of maize were used as parental lines to construct a multi-parent population for the identification of NLB-resistant loci. QTL mapping and GWAS analysis revealed that QTL qtl_YML226_1, which had the largest phenotypic variance explanation (PVE) of 9.28%, and SNP 5-49,193,921 were co-located in the CATETO-related line YML226. This locus was associated with the candidate gene Zm00001d014471, which encodes a pentatricopeptide repeat (PPR) protein. In the coding region of Zm00001d014471, YML226 had more specific SNPs than the other parental lines. qRT-PCR showed that the relative expressions of Zm00001d014471 in inoculated and uninoculated leaves of YML226 were significantly higher, indicating that the expression of the candidate gene was correlated with NLB resistance. The analysis showed that the higher expression level in YML226 might be caused by SNP mutations. This study identified NLB resistance candidate loci and genes in the tropical maize inbred line YML226 derived from the CATETO germplasm, thereby providing a theoretical basis for using modern marker-assisted breeding techniques to select genetic resources resistant to NLB.
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  • 文章类型: Journal Article
    在农业可持续发展领域,利用植物遗传资源(PGRs)增强抗病性至关重要。基因库中的保存工作因其对未来作物改良的潜在贡献而合理。为了利用PGR的潜力,我们关注的是来自德国异位基因库的大麦核心收藏,并将其与欧洲精英系列形成对比。表型评估包括812个PGRs和298个精英,特别强调四个疾病特征(Pucciniahordei,Blumeriagraminishordei,海象,和Rhynchosporium公社)。整合的全基因组关联研究,同时采用贝叶斯信息和联动不平衡迭代嵌套键槽(BLINK)和线性混合模型,是为了解开抗病性的遗传基础。总共鉴定了932个标记-性状关联,并分配给49个数量性状基因座。新的和稀有的抗性等位基因的积累显着增强了PGRs的整体抗性水平。鉴定出三个具有高数量新/稀有等位基因并表现出对叶锈病和白粉病的优异抗性的PGR供体。为即将到来的品种提供有针对性的预育种目标和增强的抵御能力的承诺。我们的发现强调了PGRs对加强作物抵御能力和推进可持续农业实践的重要贡献。
    In the realm of agricultural sustainability, the utilization of plant genetic resources (PGRs) for enhanced disease resistance is paramount. Preservation efforts in genebanks are justified by their potential contributions to future crop improvement. To capitalize on the potential of PGRs, we focused on a barley core collection from the German ex situ genebank, and contrasted it with a European elite collection. The phenotypic assessment included 812 PGRs and 298 elites with a particular emphasis on four disease traits (Puccinia hordei, Blumeria graminis hordei, Ramularia collo-cygni, and Rhynchosporium commune). An integrated genome-wide association study, employing both Bayesian-information and Linkage-disequilibrium Iteratively Nested Keyway (BLINK) and a linear mixed model, was performed to unravel the genetic underpinnings of disease resistance. A total of 932 marker-trait associations were identified and assigned to 49 quantitative trait loci. The accumulation of novel and rare resistance alleles significantly bolstered the overall resistance level in PGRs. Three PGR donors with high counts of novel/rare alleles and exhibited exceptional resistance to leaf rust and powdery mildew were identified, offering promise for targeted pre-breeding goals and enhanced resilience in forthcoming varieties. Our findings underscore the critical contribution of PGRs to strengthening crop resilience and advancing sustainable agricultural practices.
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  • 文章类型: Journal Article
    适当的开花期是玉米育种的重要选择标准。它对玉米品种的生态适应性起着至关重要的作用。探讨开花时间的遗传基础,使用由379个多亲本DH系组成的关联组进行GWAS和GS分析。DH群体进行了几天的表型分析,以进行抽穗(DTT),花粉脱落天数(DTP),以及在不同环境中的天数(DTS)。遗传力为82.75%,86.09%,DTT为85.26%,DTP,和DTS,分别。使用FarmCPU模型的GWAS分析确定了分布在3、8、9和10号染色体上的10个单核苷酸多态性(SNP),这些多态性与开花时间相关的性状显着相关。BLINK模型的GWAS分析鉴定了分布在染色体1、3、8、9和10上的7个SNP,这些SNP与开花时间相关的性状显着相关。三个SNPs3_198946071、9_146646966和9_152140631显示多效效应,表明DTT之间存在显著的遗传相关性,DTP,和DTS。共检测到24个候选基因。从GWAS检测到100个显著相关的SNP,实现了相对较高的预测精度,最佳培训人口规模为70%。这项研究为更好地理解开花时间相关性状的遗传结构,并为GS提供了最佳策略。
    An appropriate flowering period is an important selection criterion in maize breeding. It plays a crucial role in the ecological adaptability of maize varieties. To explore the genetic basis of flowering time, GWAS and GS analyses were conducted using an associating panel consisting of 379 multi-parent DH lines. The DH population was phenotyped for days to tasseling (DTT), days to pollen-shedding (DTP), and days to silking (DTS) in different environments. The heritability was 82.75%, 86.09%, and 85.26% for DTT, DTP, and DTS, respectively. The GWAS analysis with the FarmCPU model identified 10 single-nucleotide polymorphisms (SNPs) distributed on chromosomes 3, 8, 9, and 10 that were significantly associated with flowering time-related traits. The GWAS analysis with the BLINK model identified seven SNPs distributed on chromosomes 1, 3, 8, 9, and 10 that were significantly associated with flowering time-related traits. Three SNPs 3_198946071, 9_146646966, and 9_152140631 showed a pleiotropic effect, indicating a significant genetic correlation between DTT, DTP, and DTS. A total of 24 candidate genes were detected. A relatively high prediction accuracy was achieved with 100 significantly associated SNPs detected from GWAS, and the optimal training population size was 70%. This study provides a better understanding of the genetic architecture of flowering time-related traits and provides an optimal strategy for GS.
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  • 文章类型: Journal Article
    全基因组关联研究(GWAS)通过考虑宿主基因组,显着增强了我们识别性状相关基因组变异的能力。此外,全基因组是指宿主生物的集体遗传物质及其相关的微生物组。在这项研究中,我们利用了全基因组框架,称为全基因组关联研究(HWAS),解剖复杂特征的建筑,包括牛奶产量,甲烷排放,牛的瘤胃生理学,和猪的肠道微生物组成。我们采用了四种统计模型:(1)GWAS,(2)微生物GWAS(M-GWAS),(3)HWAS-CG(使用基于基因组的限制性最大似然(CORE-GREML)的随机效应之间的协方差估计的全基因组相互作用),和(4)HWAS-H(使用Hadamard乘积法估计的全基因组相互作用)。我们应用Bonferroni校正来解释复杂性状中的显著关联。GWAS和M-GWAS检测到1个和16个显著的产奶性状SNPs,分别,而HWAS-CG和HWAS-H分别鉴定了8个SNP。此外,HWAS-CG揭示了四个,其余的模型分别确定了三个甲烷排放性状的SNP。GWAS和HWAS-CG检测到1个和3个瘤胃生理性状SNPs,分别。对于猪的肠道微生物组成特征,GWAS,M-GWAS,HWAS-CG,HWAS-H确定了14、16、13和12个SNP,分别。我们通过SNP注释和分析生物过程和功能途径进一步探索了这些关联。此外,我们使用全转录组关联研究(TWAS)和基于摘要的孟德尔随机化(SMR)方法,将GWA结果与表达数量性状基因座(eQTL)数据进行整合,以更全面地了解SNP-性状关联.我们的研究揭示了农业重要性状的全基因组变异性,增强我们对宿主-微生物组相互作用的理解。
    Genome-wide association studies (GWAS) significantly enhance our ability to identify trait-associated genomic variants by considering the host genome. Moreover, the hologenome refers to the host organism\'s collective genetic material and its associated microbiome. In this study, we utilized the hologenome framework, called Hologenome-wide association studies (HWAS), to dissect the architecture of complex traits, including milk yield, methane emissions, rumen physiology in cattle, and gut microbial composition in pigs. We employed four statistical models: (1) GWAS, (2) Microbial GWAS (M-GWAS), (3) HWAS-CG (hologenome interaction estimated using COvariance between Random Effects Genome-based restricted maximum likelihood (CORE-GREML)), and (4) HWAS-H (hologenome interaction estimated using the Hadamard product method). We applied Bonferroni correction to interpret the significant associations in the complex traits. The GWAS and M-GWAS detected one and sixteen significant SNPs for milk yield traits, respectively, whereas the HWAS-CG and HWAS-H each identified eight SNPs. Moreover, HWAS-CG revealed four, and the remaining models identified three SNPs each for methane emissions traits. The GWAS and HWAS-CG detected one and three SNPs for rumen physiology traits, respectively. For the pigs\' gut microbial composition traits, the GWAS, M-GWAS, HWAS-CG, and HWAS-H identified 14, 16, 13, and 12 SNPs, respectively. We further explored these associations through SNP annotation and by analyzing biological processes and functional pathways. Additionally, we integrated our GWA results with expression quantitative trait locus (eQTL) data using transcriptome-wide association studies (TWAS) and summary-based Mendelian randomization (SMR) methods for a more comprehensive understanding of SNP-trait associations. Our study revealed hologenomic variability in agriculturally important traits, enhancing our understanding of host-microbiome interactions.
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  • 文章类型: Journal Article
    西藏西北白绒山羊(NXWCG)是西藏自治区第一个绒山羊新品种。它具有极高细度的显著特点,光泽,和柔软。全基因组关联分析是一种有效的生物学方法,用于测量基因组中两个分子标记之间基因型变化的一致性和相关性。此外,它可以筛选出影响生物个体复杂性状的关键基因。本研究旨在分析NXWCG中羊绒性状变异的遗传机制,发现与超细羊绒等性状密切相关的SNP位点和关键基因。此外,通过基因功能注释和生物学功能挖掘对获得的显著SNPs附近的关键基因进行分析。在这项研究中,四个性状的表型数据(羊绒长度,纤维长度,羊绒直径,和羊绒生产)被收集。采用GGP_Goat_70KSNP芯片对实验组的耳组织DNA进行基因分型。随后,表型数据和基因型数据的关联使用Gemma-0.98.1软件.线性混合模型用于关联研究。结果表明,4个羊毛性状在基因组水平上与18个显著SNPs相关,在染色体水平上与232个SNPs相关,通过使用组装ARS1从Caprahircus基因组中注释的基因。共获得107个与羊毛性状有关的候选基因。结合基因本体论和京都百科全书的基因和基因组富集分析,我们可以找到CLNS1A,CCSER1,RPS6KC1,PRLR,KCNRG,KCNK9和CLYBL可作为NXWCG羊毛性状的重要候选基因。我们使用Sanger测序和适宜性卡方检验进一步验证GWAS筛选的显著位点和候选基因。结果表明,五个候选基因上的碱基突变位点,CCSER1(snp12579,34,449,796,A→G),RPS6KC1(snp41503,69,173,527,A→G),KCNRG(snp41082,67,134,820,G→A),KCNK9(14:78472665,78,472,665,G→A),和CLYBL(12:9705753,9,705,753,C→T),显著影响NXWCG的羊毛性状。该结果为今后的研究提供了有价值的依据,有助于更好地理解山羊的遗传结构变异。
    Northwest Xizang White Cashmere Goat (NXWCG) is the first new breed of cashmere goat in the Xizang Autonomous Region. It has significant characteristics of extremely high fineness, gloss, and softness. Genome-wide association analysis is an effective biological method used to measure the consistency and correlation of genotype changes between two molecular markers in the genome. In addition, it can screen out the key genes affecting the complex traits of biological individuals. The aim of this study was to analyze the genetic mechanism of cashmere trait variation in NXWCG and to discover SNP locus and key genes closely related to traits such as superfine cashmere. Additionally, the key genes near the obtained significant SNPs were analyzed by gene function annotation and biological function mining. In this study, the phenotype data of the four traits (cashmere length, fiber length, cashmere diameter, and cashmere production) were collected. GGP_Goat_70K SNP chip was used for genotyping the ear tissue DNA of the experimental group. Subsequently, the association of phenotype data and genotype data was performed using Gemma-0.98.1 software. A linear mixed model was used for the association study. The results showed that four fleece traits were associated with 18 significant SNPs at the genome level and 232 SNPs at the chromosome level, through gene annotated from Capra hircus genome using assembly ARS1. A total of 107 candidate genes related to fleece traits were obtained. Combined with Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analysis, we can find that CLNS1A, CCSER1, RPS6KC1, PRLR, KCNRG, KCNK9, and CLYBL can be used as important candidate genes for fleece traits of NXWCG. We used Sanger sequencing and suitability chi-square test to further verify the significant loci and candidate genes screened by GWAS, and the results show that the base mutations loci on the five candidate genes, CCSER1 (snp12579, 34,449,796, A → G), RPS6KC1 (snp41503, 69,173,527, A → G), KCNRG (snp41082, 67,134,820, G → A), KCNK9 (14:78472665, 78,472,665, G → A), and CLYBL (12: 9705753, 9,705,753, C → T), significantly affect the fleece traits of NXWCG. The results provide a valuable basis for future research and contribute to a better understanding of the genetic structure variation of the goat.
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  • 文章类型: Journal Article
    蛋壳颜色是影响消费者对鸡蛋偏好的重要视觉特征。蛋壳颜色,具有中等到高的遗传力,可以通过分子标记选择得到有效的增强。已经在特定时间点对蛋壳颜色进行了各种研究。然而,关于蛋壳颜色的纵向数据很少。因此,这项研究的目的是使用国际委员会deL\'EclairageL*a*b*系统,在不同年龄(第一个鸡蛋的年龄和32、36、40、44、48、52、56、60、66和72周)对同一个体的蛋壳颜色进行调查。使用Affymetrix600单核苷酸多态性(SNP)阵列,我们估计了蛋壳颜色性状的遗传参数,进行全基因组关联研究(GWAS),并筛选潜在的候选基因。结果表明,粉壳蛋的L*值与a*和b*值之间呈显着负相关。基于SNP的遗传遗传力表明,L*的遗传力,a*,粉壳蛋的b*值范围为0.32至0.82,表明中等到高水平的遗传控制。各时间点的遗传相关性大多在0.5以上。在Gallusgallus20染色体的10.3-13.0Mb间隔中鉴定了影响粉红色蛋壳颜色的主要效应区域,并选择了候选基因,包括SLC35C2、PCIF1和SLC12A5。在染色体1、6、9、12和15上鉴定出影响较小的多基因区域,揭示了11个候选基因,包括MTMR3和SLC35E4。溶质载体家族的成员在影响蛋壳颜色方面起着重要作用。总的来说,我们的发现为蛋壳颜色变异的表型和遗传方面提供了有价值的见解。使用GWAS分析,我们确定了粉红色蛋壳颜色的多个数量性状位点(QTL),在20号染色体上包括一个主要的QTL。与蛋壳颜色相关的遗传变异可用于基因组育种程序。
    Eggshell color is an important visual characteristic that affects consumer preferences for eggs. Eggshell color, which has moderate to high heritability, can be effectively enhanced through molecular marker selection. Various studies have been conducted on eggshell color at specific time points. However, few longitudinal data are available on eggshell color. Therefore, the objective of this study was to investigate eggshell color using the Commission International de L\'Eclairage L*a*b* system with multiple measurements at different ages (age at the first egg and at 32, 36, 40, 44, 48, 52, 56, 60, 66, and 72 weeks) within the same individuals from an F2 resource population produced by crossing White Leghorn and Dongxiang Blue chicken. Using an Affymetrix 600 single nucleotide polymorphism (SNP) array, we estimated the genetic parameters of the eggshell color trait, performed genome-wide association studies (GWASs), and screened for the potential candidate genes. The results showed that pink-shelled eggs displayed a significant negative correlation between L* values and both a* and b* values. Genetic heritability based on SNPs showed that the heritability of L*, a*, and b* values ranged from 0.32 to 0.82 for pink-shelled eggs, indicating a moderate to high level of genetic control. The genetic correlations at each time point were mostly above 0.5. The major-effect regions affecting the pink eggshell color were identified in the 10.3-13.0 Mb interval on Gallus gallus chromosome 20, and candidate genes were selected, including SLC35C2, PCIF1, and SLC12A5. Minor effect polygenic regions were identified on chromosomes 1, 6, 9, 12, and 15, revealing 11 candidate genes, including MTMR3 and SLC35E4. Members of the solute carrier family play an important role in influencing eggshell color. Overall, our findings provide valuable insights into the phenotypic and genetic aspects underlying the variation in eggshell color. Using GWAS analysis, we identified multiple quantitative trait loci (QTLs) for pink eggshell color, including a major QTL on chromosome 20. Genetic variants associated with eggshell color may be used in genomic breeding programs.
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  • 文章类型: Journal Article
    羽毛颜色是鸭子的特征,源于自然和人工选择的结果。作为一个明显的表型特征,这是一个品种特征。先前的研究已经确定了一些与鸭子中黑白羽毛形成相关的基因。然而,关于鸭子红色羽毛表型的遗传基础的研究有限。这里,全基因组关联分析(GWAS)和选择信号检测(Fst,θπ比,和跨种群复合似然比[XP-CLR])进行了鉴定,以确定鸭羽毛颜色表型的候选区域和基因。选择信号检测显示,吉安红鸭中29个重叠基因(包括ENPP1和ULK1)与红色羽毛颜色显着相关。ENSAPLG00000012679,ESRRG,使用GWAS将SPATA5和SPATA5鉴定为与红色羽毛相关的候选基因。选择信号检测显示19个重叠基因(包括GMDS,PDIA6和ODC1)与棕色泽雅鸭的浅棕色羽毛显着相关。GWAS缩小显著区域进一步揭示了9个候选基因(AKT1、ATP6V1C2、GMDS、LRP4,MAML3,PDIA6,PLD5,TMEM63B,和TSPAN8)。值得注意的是,在棕色的泽雅鸭子中,GMDS,ODC1和PDIA6在其他羽毛色鸭子中表现出显着差异的等位基因频率,在吉安红鸭,与其他羽毛色鸭子相比,ENSAPLG00000012679具有不同的等位基因频率分布。这项研究提供了使用GWAS和选择性信号对红色羽毛表型的变化和选择的新见解。
    Plumage color is a characteristic trait of ducks that originates as a result of natural and artificial selection. As a conspicuous phenotypic feature, it is a breed characteristic. Previous studies have identified some genes associated with the formation of black and white plumage in ducks. However, studies on the genetic basis underlying the red plumage phenotype in ducks are limited. Here, genome-wide association analysis (GWAS) and selection signal detection (Fst, θπ ratio, and cross-population composite likelihood ratio [XP-CLR]) were conducted to identify candidate regions and genes underlying duck plumage color phenotype. Selection signal detection revealed 29 overlapping genes (including ENPP1 and ULK1) significantly associated with red plumage color in Ji\'an Red ducks. ENSAPLG00000012679, ESRRG, and SPATA5 were identified as candidate genes associated with red plumage using GWAS. Selection signal detection revealed that 19 overlapping genes (including GMDS, PDIA6, and ODC1) significantly correlated with light brown plumage in Brown Tsaiya ducks. GWAS to narrow down the significant regions further revealed nine candidate genes (AKT1, ATP6V1C2, GMDS, LRP4, MAML3, PDIA6, PLD5, TMEM63B, and TSPAN8). Notably, in Brown Tsaiya ducks, GMDS, ODC1, and PDIA6 exhibit significantly differentiated allele frequencies among other feather-colored ducks, while in Ji\'an Red ducks, ENSAPLG00000012679 has different allele frequency distributions compared with that in other feather-colored ducks. This study offers new insights into the variation and selection of the red plumage phenotype using GWAS and selective signals.
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