Gene prediction

基因预测
  • 文章类型: Journal Article
    BACKGROUND: Observational studies have shown that individual sleep traits habits are potential risk factors for major depression. However, it is not known whether there is a causal relationship between individual sleep traits habits such as continuous sleep duration, short sleep duration, short sleep duration, insomnia, nap during the day, snoring, and major depression. In this study, Mendelian randomization (MR) was used to predict major depressive disorder (MDD) in individuals sleep traits habits.
    METHODS: Data were obtained from the genome-wide association study (GWAS). Nine MR analysis methods were used: Inverse Variance Weighted (IVW) [fixed effects/multiplicative random effects], simple mode, simple mode, weighted mode, simple median, weighted median, penalised weighted median, and MR-Egger, MR Egger (bootstrap). IVW was used as the main analysis method for the MR analysis of two samples, and the other methods were used as supplements.
    RESULTS: The results obtained through the IVW method supported a causal relationship between sleep duration and decreased risk of MDD (odds ratio, ORivw: 0.998; 95 % CI: 0.996-0.999, P<0.001). Two-Sample MR, results showed that short sleep duration has a causal effect on the increased risk of MDD (odds ratio, ORivw: 1.179; 95 % CI: 1.108-1.255, P<0.001). However, there were no sufficient evidence supported that long sleep duration has a causal effect on the decreased risk of MDD (odds ratio, ORivw: 0.991; 95 % CI: 0.924-1.062, P = 0.793). A significant causal relationship between insomnia and increased risk of MDD was observed (OR: 1.233; 95 % CI: 1.214-1.253, P<0.001). Interestingly, our study also found that daytime napping has a causal effect on the increased risk of MDD (odds ratio, ORivw: 1.519; 95 % CI: 1.376-1.678, P<0.001). The present results did not show a significant causal relationship between snoring and the risk of MDD (ORivw: 1.000; 95 % CI: 0.998-1.002, P = 0.906). Obstructive sleep apnea (odds ratio, ORivw: 1.021; 95 % CI: 0.972-1.072, P = 0.407) and morning person (odds ratio, ORivw: 1.021; 95 % CI: 0.972-1.072, P = 0.407) have no causal effect on the increased risk of MDD.
    CONCLUSIONS: The study could not ascertain whether there were genetic differences among different ethnicities, nations, and regions, as it only included participants of European ancestry.
    CONCLUSIONS: In summary, our research provides genetic evidence for the relationship between individual sleep traits (short sleep duration, insomnia, daytime napping) and the increased risk of MDD. Interventions targeting lifestyle factors may reduce the risk of MDD.
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  • 文章类型: Journal Article
    自从测序技术出现以来,由于它们的不断发展,获得任何生物体的完整基因组序列变得更容易和更便宜。然而,阐明控制生物体发育的所有生物过程,质量注释是必不可少的。在基因组注释中,预测基因结构是计算生物学最重要和最吸引人的挑战之一。注释的这一方面需要持续优化,特别是对于像微孢子虫这样不寻常的基因组。的确,这组真菌相关的寄生虫表现出特定的特征(高度减少的基因大小,具有高进化率的序列)与它们作为细胞内寄生虫的进化有关,需要实现特定的注释方法来考虑所有这些功能。这篇综述旨在概述这些特征,并评估提高微孢子虫基因预测准确性的日益有效的方法和工具。无论是敏感性还是特异性。随后,最后一部分将致力于旨在加强预测软件生成的注释数据的后基因组方法。这些方法包括表征其他未被研究的基因,例如那些编码调节性非编码RNA或非常小的蛋白质,在这些微生物的生命周期中也起着至关重要的作用。
    Since the advent of sequencing techniques and due to their continuous evolution, it has become easier and less expensive to obtain the complete genome sequence of any organism. Nevertheless, to elucidate all biological processes governing organism development, quality annotation is essential. In genome annotation, predicting gene structure is one of the most important and captivating challenges for computational biology. This aspect of annotation requires continual optimization, particularly for genomes as unusual as those of microsporidia. Indeed, this group of fungal-related parasites exhibits specific features (highly reduced gene sizes, sequences with high rate of evolution) linked to their evolution as intracellular parasites, requiring the implementation of specific annotation approaches to consider all these features. This review aimed to outline these characteristics and to assess the increasingly efficient approaches and tools that have enhanced the accuracy of gene prediction for microsporidia, both in terms of sensitivity and specificity. Subsequently, a final part will be dedicated to postgenomic approaches aimed at reinforcing the annotation data generated by prediction software. These approaches include the characterization of other understudied genes, such as those encoding regulatory noncoding RNAs or very small proteins, which also play crucial roles in the life cycle of these microorganisms.
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  • 文章类型: Journal Article
    植物基因组学通过提供创新的解决方案来提高作物产量,在增强全球粮食安全和可持续性方面发挥着关键作用。抗病性,和压力耐受性。随着测序基因组数量的增长以及基因组组装的准确性和连续性的提高,植物基因组的结构注释仍然是一个重大的挑战,由于它们的大尺寸,多倍体,和丰富的重复内容。在本文中,我们概述了作物基因组学研究的现状,突出了各种作物物种基因组特征的多样性。我们还评估了流行的基因预测工具在识别作物基因组中的基因的准确性,并检查了影响其性能的因素。我们的发现突出了BRAKER2和Helixer作为领先的结构基因组注释工具的优势和局限性,并强调了基因组复杂性的影响。碎片化,重复他们的表演内容。此外,我们使用质谱数据评估了预测蛋白质作为蛋白质组学研究中可靠搜索空间的适用性.我们的结果为今后完善和推进结构基因组注释领域提供了有价值的见解。
    Plant genomics plays a pivotal role in enhancing global food security and sustainability by offering innovative solutions for improving crop yield, disease resistance, and stress tolerance. As the number of sequenced genomes grows and the accuracy and contiguity of genome assemblies improve, structural annotation of plant genomes continues to be a significant challenge due to their large size, polyploidy, and rich repeat content. In this paper, we present an overview of the current landscape in crop genomics research, highlighting the diversity of genomic characteristics across various crop species. We also assessed the accuracy of popular gene prediction tools in identifying genes within crop genomes and examined the factors that impact their performance. Our findings highlight the strengths and limitations of BRAKER2 and Helixer as leading structural genome annotation tools and underscore the impact of genome complexity, fragmentation, and repeat content on their performance. Furthermore, we evaluated the suitability of the predicted proteins as a reliable search space in proteomics studies using mass spectrometry data. Our results provide valuable insights for future efforts to refine and advance the field of structural genome annotation.
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  • 文章类型: Journal Article
    新测序的基因组正以前所未有的快节奏被添加到生命树中。很大一部分这样的新基因组在系统发育上接近于先前测序和注释的基因组。在其他情况下,密切相关的物种或菌株的整个进化枝应该同时注释。通常,在随后的研究中,当共享基因结构占上风时,紧密相关的物种或菌株之间的差异是研究的重点。我们在这里回顾比较结构基因组注释的方法。所审查的方法包括经典方法,例如蛋白质序列或蛋白质谱与基因组的比对,以及利用基因组比对同时注释单个靶基因组或所有输入基因组的比较基因预测方法。我们讨论了这些方法如何依赖于基因组的系统发育位置,就方法的选择提出建议,并检查示例中基因结构注释之间的一致性。此外,我们提供了关于一般基因组注释的实用建议。
    Newly sequenced genomes are being added to the tree of life at an unprecedented fast pace. A large proportion of such new genomes are phylogenetically close to previously sequenced and annotated genomes. In other cases, whole clades of closely related species or strains ought to be annotated simultaneously. Often, in subsequent studies, differences between the closely related species or strains are in the focus of research when the shared gene structures prevail. We here review methods for comparative structural genome annotation. The reviewed methods include classical approaches such as the alignment of protein sequences or protein profiles against the genome and comparative gene prediction methods that exploit a genome alignment to annotate either a single target genome or all input genomes simultaneously. We discuss how the methods depend on the phylogenetic placement of genomes, give advice on the choice of methods, and examine the consistency between gene structure annotations in an example. Furthermore, we provide practical advice on genome annotation in general.
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  • 文章类型: Journal Article
    邻苯二甲酸二(2-乙基己基)酯(DEHP),一种有毒的邻苯二甲酸酯(PAE)增塑剂,经常在海洋沉积物和生物群中检测到。我们对DEHP降解海洋细菌和相关遗传机制的理解是有限的。本研究建立了由三种海洋细菌(OR05,OR16和OR21)组成的合成细菌联盟(A02)。财团A02在DEHP降解方面优于单个菌株。对DEHP中间体降解的调查表明,OR05和OR16可能有助于通过利用DEHP中间体,通过ConsortiumA02增强DEHP降解,如原儿茶酸和邻苯二甲酸单(乙基己基)酯,OR21作为关键DEHP降解器。基于基因组分析和实验降解,预测了ConsortiumA02降解DEHP的途径。使用ConsortiumA02进行生物强化在盐水沉积物(100mg/kg)中的26天内导致80%的DEHP降解,超过了土著微生物降解的53%,表明A02处理DEHP污染沉积物的潜力。同时,生物强化显著改变了细菌群落,在A02生物增强的微观世界中只存在某些细菌属,并预测会导致更动态和活跃的沉积物细菌群落。这项研究为海洋细菌及其相关基因降解DEHP的有限文献做出了贡献。
    Di (2-ethylhexyl) phthalate (DEHP), a toxic phthalate ester (PAE) plasticizer, is often detected in marine sediment and biota. Our understanding of DEHP-degrading marine bacteria and the associated genetic mechanisms is limited. This study established a synthetic bacterial consortium (A02) consisting of three marine bacteria (OR05, OR16, and OR21). Consortium A02 outperformed the individual strains in DEHP degradation. Investigations into the degradation of DEHP intermediates revealed that OR05 and OR16 likely contributed to enhanced DEHP degradation by Consortium A02 via the utilization of DEHP intermediates, such as protocatechuic acid and mono (ethylhexyl) phthalate, with OR21 as the key DEHP degrader. A pathway of DEHP degradation by Consortium A02 was predicted based on genome analysis and experimental degradation. Bioaugmentation with Consortium A02 led to 80% DEHP degradation in 26 days in saline sediment (100 mg/kg), surpassing the 53% degradation by indigenous microbes, indicating the potential of A02 for treating DEHP-contaminated sediments. Meanwhile, bioaugmentation notably changed the bacterial community, with the exclusive presence of certain bacterial genera in the A02 bioaugmented microcosms, and was predicted to result in a more dynamic and active sediment bacterial community. This study contributes to the limited literature on DEHP degradation by marine bacteria and their associated genes.
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  • 文章类型: Journal Article
    本研究研究了氮保留复合添加剂Ca(H2PO4)2和MgSO4对木质纤维素降解的影响,成熟,和堆肥中的真菌群落。研究包括对照(C,不含Ca(H2PO4)2和MgSO4),1%Ca(H2PO4)2+2%MgSO4(CaPM1),1.5%Ca(H2PO4)2+3%MgSO4(CaPM2)。结果表明,Ca(H2PO4)2和MgSO4增强了堆肥中总有机碳(TOC)的降解,促进了堆肥中木质纤维素的降解,CaPM2表现出最高的TOC和木质纤维素降解。堆肥中溶解有机物(DOM)组分的三维激发-发射基质荧光光谱(3D-EEM)变化表明,添加Ca(H2PO4)2和MgSO4的处理组促进了腐殖酸(HAs)的产生,增加了堆肥分解程度,CaPM2表现出最高的分解程度。Ca(H2PO4)2和MgSO4的添加改变了真菌群落的组成。Ca(H2PO4)2和MgSO4增加了子囊的相对丰度,减少未分类的真菌,和肾小球,并激活了真菌热霉菌属和曲霉属,在堆肥的高温阶段可以降解木质素和纤维素。Ca(H2PO4)2和MgSO4也增加了腐生的丰度,特别是未定义的Seprotrophh。总之,在堆肥中添加Ca(H2PO4)2和MgSO4激活的真菌群落参与木质纤维素降解,促进了木质纤维素的降解,提高了堆肥的成熟度。
    This study investigated the effects of the nitrogen retention composite additives Ca(H2PO4)2 and MgSO4 on lignocellulose degradation, maturation, and fungal communities in composts. The study included control (C, without Ca(H2PO4)2 and MgSO4), 1% Ca(H2PO4)2 + 2% MgSO4 (CaPM1), 1.5% Ca(H2PO4)2 + 3% MgSO4 (CaPM2). The results showed that Ca(H2PO4)2 and MgSO4 enhanced the degradation of total organic carbon (TOC) and promoted the degradation of lignocellulose in compost, with CaPM2 showing the highest TOC and lignocellulose degradation. Changes in the three-dimensional excitation-emission matrix fluorescence spectroscopy (3D-EEM) of dissolved organic matter (DOM) components in compost indicated that the treatment group with the addition of Ca(H2PO4)2 and MgSO4 promoted the production of humic acids (HAs) and increased the degree of compost decomposition, with CaPM2 demonstrating the highest degree of decomposition. The addition of Ca(H2PO4)2 and MgSO4 modified the composition of the fungal community. Ca(H2PO4)2 and MgSO4 increased the relative abundance of Ascomycota, decreased unclassified_Fungi, and Glomeromycota, and activated the fungal genera Thermomyces and Aspergillus, which can degrade lignin and cellulose during the thermophilic stage of composting. Ca(H2PO4)2 and MgSO4 also increased the abundance of Saprotroph, particularly undefined Saprotroph. In conclusion, the addition of Ca(H2PO4)2 and MgSO4 in composting activated fungal communities involved in lignocellulose degradation, promoted the degradation of lignocellulose, and enhanced the maturation degree of compost.
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  • 文章类型: Journal Article
    神经肽和肽激素是通过称为激素原的前体蛋白的复杂翻译后修饰产生的信号分子。神经肽激活特定受体,并与生理系统和行为的调节有关。从基因组组装体中鉴定激素原和由这些激素原产生的神经肽对于支持快速增加数量的测序基因组的注释和使用已变得至关重要。在这里,我们描述了一种经过充分验证的方法,用于从基因组装配中识别激素原补体,该方法采用了广泛可用的公共工具集和数据库。然后可以针对推定的神经肽筛选未发现的激素原序列,以实现准确的蛋白质组学发现和验证。
    Neuropeptides and peptide hormones are signaling molecules produced via complex posttranslational modifications of precursor proteins known as prohormones. Neuropeptides activate specific receptors and are associated with the regulation of physiological systems and behaviors. The identification of prohormones-and the neuropeptides created by these prohormones-from genomic assemblies has become essential to support the annotation and use of the rapidly growing number of sequenced genomes. Here we describe a well-validated methodology for identifying the prohormone complement from genomic assemblies that employs widely available public toolsets and databases. The uncovered prohormone sequences can then be screened for putative neuropeptides to enable accurate proteomic discovery and validation.
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  • 文章类型: Meta-Analysis
    在疾病关联研究中,尽管X染色体包含数千个基因,这些基因可以提供对阿尔茨海默病(AD)风险中众所周知的性别差异的见解。
    对X染色体基因的表达进行建模,并以性别分层的方式评估其对AD风险的影响。
    使用弹性网,我们在一组175个全血样本和126个大脑皮层样本中评估了多种建模策略,全基因组测序和RNA-seq数据。顺式调节窗内的SNP(MAF>0.05)用于训练每个基因的组织特异性模型。我们将两种组织中的最佳模型应用于阿尔茨海默病遗传学联盟(ADGC)研究的荟萃分析中的性别分层汇总统计,以鉴定X染色体上的AD相关基因。
    跨不同的模型参数,样本性别,和组织类型,我们模拟了217个基因的表达(95个基因在血液中,135个基因在大脑皮层中)。平均模型R2为0.12(范围从0.03到0.34)。我们还比较了X染色体上的性别分层和性别组合模型。我们进一步研究了逃避X染色体失活(XCI)的基因,以确定它们的遗传调控模式是否不同。我们发现了10个与AD相关的基因,p<0.05,只有女性大脑皮层中的ARMCX6(p=0.008)在调整多次测试后接近显着性阈值(α=0.002)。
    我们优化了X染色体基因的表达预测,将这些模型应用于性别分层ADGWAS汇总统计,并确定了一个推定的AD风险基因,ARMCX6.
    UNASSIGNED: The X chromosome is often omitted in disease association studies despite containing thousands of genes that may provide insight into well-known sex differences in the risk of Alzheimer\'s disease (AD).
    UNASSIGNED: To model the expression of X chromosome genes and evaluate their impact on AD risk in a sex-stratified manner.
    UNASSIGNED: Using elastic net, we evaluated multiple modeling strategies in a set of 175 whole blood samples and 126 brain cortex samples, with whole genome sequencing and RNA-seq data. SNPs (MAF > 0.05) within the cis-regulatory window were used to train tissue-specific models of each gene. We apply the best models in both tissues to sex-stratified summary statistics from a meta-analysis of Alzheimer\'s Disease Genetics Consortium (ADGC) studies to identify AD-related genes on the X chromosome.
    UNASSIGNED: Across different model parameters, sample sex, and tissue types, we modeled the expression of 217 genes (95 genes in blood and 135 genes in brain cortex). The average model R2 was 0.12 (range from 0.03 to 0.34). We also compared sex-stratified and sex-combined models on the X chromosome. We further investigated genes that escaped X chromosome inactivation (XCI) to determine if their genetic regulation patterns were distinct. We found ten genes associated with AD at p < 0.05, with only ARMCX6 in female brain cortex (p = 0.008) nearing the significance threshold after adjusting for multiple testing (α = 0.002).
    UNASSIGNED: We optimized the expression prediction of X chromosome genes, applied these models to sex-stratified AD GWAS summary statistics, and identified one putative AD risk gene, ARMCX6.
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  • 文章类型: Journal Article
    目的:Brasenia是Cabombaceae家族中的单型属。唯一的物种,B.schreberi,是分布在世界各地的大型植物。因为它需要良好的水质,由于水生栖息地的恶化,它在中国和其他国家濒临灭绝。B.schreberi的幼叶和茎被厚厚的粘液覆盖,具有很高的医疗价值。作为一种化感水生植物,它也可以用于水生杂草的管理。这里,我们展示了其组装和注释的基因组,以帮助阐明中间和化感底物并促进其保守性。
    方法:使用Nanopore和/或MGI测序仪,将从施氏芽孢杆菌叶组织提取的基因组DNA和RNA用于全基因组和RNA测序。组装长度为1,055,148,839bp,具有92个重叠群,N50为22,379,495bp。组装中的重复元件为555,442,205bp。使用BUSCO和compleasm对装配的完整性评估表明,Eudicots数据库中的完整性为88.4%和90.9%,而Embryphyta数据库中的完整性为95.4%和96.6%。基因注释揭示了67,747个基因,编码了73,344个蛋白质。
    OBJECTIVE: Brasenia is a monotypic genus in the family of Cabombaceae. The only species, B. schreberi, is a macrophyte distributed worldwide. Because it requires good water quality, it is endangered in China and other countries due to the deterioration of aquatic habitats. The young leaves and stems of B. schreberi are covered by thick mucilage, which has high medical value. As an allelopathic aquatic plant, it can also be used in the management of aquatic weeds. Here, we present its assembled and annotated genome to help shed light on medial and allelopathic substrates and facilitate their conservation.
    METHODS: Genomic DNA and RNA extracted from B. schreberi leaf tissues were used for whole genome and RNA sequencing using a Nanopore and/or MGI sequencer. The assembly was 1,055,148,839 bp in length, with 92 contigs and an N50 of 22,379,495 bp. The repetitive elements in the assembly were 555,442,205 bp. A completeness assessment of the assembly with BUSCO and compleasm indicated 88.4 and 90.9% completeness in the Eudicots database and 95.4 and 96.6% completeness in the Embryphyta database. Gene annotation revealed 67,747 genes that coded for 73,344 proteins.
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  • 文章类型: Journal Article
    镉(Cd)污染土壤对作物生产和人类健康构成严重威胁,同时也造成了土地资源的浪费。在这项研究中,将两种有机肥(ZCK:低含量有效铁;Z2:高含量有效铁)施用于Cd污染土壤用于水稻种植,并结合土壤微生物分析研究了肥料对水稻生长和Cd钝化的影响。结果表明,Z2可以改变成分,结构,和微生物群落的多样性,以及增强微生物网络的复杂性和稳定性。2%和5%Z2均显着增加了水稻植株的鲜重和干重,同时抑制了Cd的吸收。2%的Z2表现出最好的Cd钝化效果。基因预测表明,Z2可能通过调节微生物溶解磷和钾的有机酸的产生来促进植物生长。此外,认为Z2可能通过调节微生物镉的外排和吸收系统来促进土壤镉的吸收和固定。以及通过细胞外多糖的分泌。总之,Z2能促进水稻生长,抑制水稻对Cd的吸收,通过调节土壤微生物群落来钝化土壤Cd。
    Cadmium (Cd)-contaminated soil poses a severe threat to crop production and human health, while also resulting in a waste of land resources. In this study, two types of organic fertilizer (ZCK: Low-content available iron; Z2: High-content available iron) were applied to Cd-contaminated soil for rice cultivation, and the effects of the fertilizer on rice growth and Cd passivation were investigated in conjunction with soil microbial analysis. Results showed that Z2 could alter the composition, structure, and diversity of microbial communities, as well as enhance the complexity and stability of the microbial network. Both 2% and 5% Z2 significantly increased the fresh weight and dry weight of rice plants while suppressing Cd absorption. The 2% Z2 exhibited the best Cd passivation effect. Gene predictions suggested that Z2 may promote plant growth by regulating microbial production of organic acids that dissolve phosphorus and potassium. Furthermore, it is suggested that Z2 may facilitate the absorption and immobilization of soil cadmium through the regulation of microbial cadmium efflux and uptake systems, as well as via the secretion of extracellular polysaccharides. In summary, Z2 can promote rice growth, suppress Cd absorption by rice, and passivate soil Cd by regulating soil microbial communities.
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