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Toxin-Antitoxin Systems Reflect Community Interactions Through Horizontal Gene Transfer. 毒素-抗毒素系统通过水平基因转移反映了群落间的相互作用。
IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-04 DOI: 10.1093/molbev/msae206
Jonathan H Bethke, Jeffrey Kimbrel, Yongqin Jiao, Dante Ricci

Bacterial evolution through horizontal gene transfer (HGT) reflects their community interactions. In this way, HGT networks do well at mapping community interactions, but offer little toward controlling them-an important step in the translation of synthetic strains into natural contexts. Toxin-antitoxin (TA) systems serve as ubiquitous and diverse agents of selection; however, their utility is limited by their erratic distribution in hosts. Here we examine the heterogeneous distribution of TAs as a consequence of their mobility. By systematically mapping TA systems across a 10,000 plasmid network, we find HGT communities have unique and predictable TA signatures. We propose these TA signatures arise from plasmid competition and have further potential to signal the degree to which plasmids, hosts, and phage interact. To emphasize these relationships, we construct an HGT network based solely on TA similarity, framing specific selection markers in the broader context of bacterial communities. This work both clarifies the evolution of TA systems and unlocks a common framework for manipulating community interactions through TA compatibility.

细菌通过水平基因转移(HGT)实现的进化反映了其群落间的相互作用。因此,HGT 网络能很好地绘制群落相互作用的图谱,但在控制群落相互作用方面却无能为力--而这正是将合成菌株转化为自然菌株的重要一步。毒素-抗毒素(TA)系统是无处不在、多种多样的选择媒介;然而,由于它们在宿主体内的分布不稳定,它们的作用受到了限制。在这里,我们研究了TA的异质性分布是其流动性的结果。通过系统地绘制 10,000 个质粒网络中的 TA 系统图,我们发现 HGT 群体具有独特且可预测的 TA 特征。我们认为这些TA特征源于质粒竞争,并有可能进一步表明质粒、宿主和噬菌体之间的相互作用程度。为了强调这些关系,我们仅根据 TA 相似性构建了一个 HGT 网络,在细菌群落的大背景下构建了特定的选择标记。这项工作既阐明了TA系统的进化,又为通过TA兼容性操纵群落相互作用打开了一个共同的框架。
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引用次数: 0
Tracing the Evolutionary History of the Temperature-Sensing Prion-like Domain in EARLY FLOWERING 3 Highlights the Uniqueness of AtELF3. 追溯早花3号中温度感应朊病毒样结构域的进化历史,凸显了AtELF3的独特性。
IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-04 DOI: 10.1093/molbev/msae205
Zihao Zhu, Jana Trenner, Carolin Delker, Marcel Quint

Plants have evolved mechanisms to anticipate and adjust their growth and development in response to environmental changes. Understanding the key regulators of plant performance is crucial to mitigate the negative influence of global climate change on crop production. EARLY FLOWERING 3 (ELF3) is one such regulator playing a critical role in the circadian clock and thermomorphogenesis. In Arabidopsis thaliana, ELF3 contains a prion-like domain (PrLD) that acts as a thermosensor, facilitating liquid-liquid phase separation at high ambient temperatures. To assess the conservation of this function across the plant kingdom, we traced the evolutionary emergence of ELF3, with a focus on the presence of PrLDs. We found that the PrLD, primarily influenced by the length of polyglutamine (polyQ) repeats, is most prominent in Brassicales. Analyzing 319 natural A. thaliana accessions, we confirmed the previously described wide range of polyQ length variation in AtELF3, but found it to be only weakly associated with geographic origin, climate conditions, and classic temperature-responsive phenotypes. Interestingly, similar polyQ length variation was not observed in several other investigated Bassicaceae species. Based on these findings, available prediction tools and limited experimental evidence, we conclude that the emergence of PrLD, and particularly polyQ length variation, is unlikely to be a key driver of environmental adaptation. Instead, it likely adds an additional layer to ELF3's role in thermomorphogenesis in A. thaliana, with its relevance in other species yet to be confirmed.

植物已经进化出能够预测和调整其生长发育以应对环境变化的机制。了解植物性能的关键调节因子对于减轻全球气候变化对作物生产的负面影响至关重要。早花 3(ELF3)就是这样一种调节因子,它在昼夜节律钟和热形态发生中发挥着关键作用。在拟南芥中,ELF3 含有一个朊病毒样结构域(PrLD),该结构域可充当热传感器,在高环境温度下促进液-液相分离。为了评估这一功能在整个植物界的保存情况,我们追踪了 ELF3 的进化过程,重点研究了 PrLD 的存在。我们发现,PrLD主要受多谷氨酰胺(polyQ)重复序列长度的影响,在十字花科植物中最为突出。我们分析了 319 个拟南芥天然登录品系,证实了之前描述的 ELF3 中广泛的 polyQ 长度变异,但发现它与地理起源、气候条件和典型的温度响应表型只有微弱的联系。有趣的是,在其他几个被研究的巴西科物种中没有观察到类似的 polyQ 长度变异。基于这些发现、现有的预测工具和有限的实验证据,我们得出结论:PrLD 的出现,尤其是 polyQ 长度变异,不太可能是环境适应的关键驱动因素。相反,它可能是拟南芥中ELF3在热形态发生中作用的又一层面,在其他物种中的相关性还有待证实。
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引用次数: 0
Maroon Rice Genomic Diversity Reflects 350 Years of Colonial History. 马龙水稻基因组多样性反映了 350 年的殖民历史。
IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-04 DOI: 10.1093/molbev/msae204
Marieke S van de Loosdrecht, Nicholaas M Pinas, Evanne Dongstra, Jerry R Tjoe Awie, Frank F M Becker, Harro Maat, Robin van Velzen, Tinde van Andel, Michael Eric Schranz

Maroons in Suriname and French Guiana descend from enslaved Africans who escaped the plantations during colonial times. Maroon farmers still cultivate a large diversity of rice, their oldest staple crop. The oral history and written records of Maroons by colonial authorities provide contrasting perspectives on the origins of Maroon rice. Here, we analyzed the genomic ancestry of 136 newly sequenced Maroon rice varieties and found seven genomic groups that differ in their geographical associations. We interpreted these findings in light of ethnobotanical and archival investigations to reconstruct the historical contexts associated with the introduction of rice varieties to the Guianas. We found that two rice groups trace to West Africa, which we propose are linked to the transatlantic slave trade (c. 1526 to 1825). We posit that the Maroon rice stock additionally contains varieties that derive from rice introduced by indentured laborers from Java (1890 onwards), USA rice breeders (1932 onwards), and Hmong refugees who fled the Vietnam War (1991). Furthermore, on the Maroon fields, we found rice types never documented before that were derived from crosses. Overall, our results demonstrate that the Maroon farmers prioritize maintenance of a high stock diversity, which we posit reflects the expertise they inherited from their (African) ancestors. Ignored by agricultural modernization initiatives, Maroon farmers today are custodians of a unique cultural heritage. Notably, the genomic findings underline many Maroon stories about their past. We anticipate that a similar study approach can be applied to other heirloom crops of (Indigenous) communities that may have preserved their history on their farms to reconstruct, acknowledge, and honor the past.

苏里南和法属圭亚那的马龙人是殖民时期逃离种植园的非洲奴隶的后裔。马龙人农民仍然种植种类繁多的水稻,这是他们最古老的主食作物。殖民当局对马龙人的口述历史和书面记录为马龙人水稻的起源提供了截然不同的视角。在这里,我们分析了 136 个新测序的马龙人水稻品种的基因组祖先,发现了七个基因组群体,它们在地理关联上存在差异。我们根据人种植物学和档案调查对这些发现进行了解释,以重建与水稻品种引入圭亚那相关的历史背景。我们发现有两个水稻群体可追溯到西非,我们认为这两个群体与跨大西洋奴隶贸易(约 1526 年至 1825 年)有关。我们认为,马龙人的水稻种群中还包含由爪哇契约劳工(1890 年以后)、美国水稻育种家(1932 年以后)和逃离越南战争的苗族难民(1991 年)引进的水稻品种。此外,在马龙田里,我们还发现了以前从未记载过的杂交水稻类型。总之,我们的研究结果表明,马龙族农民优先考虑保持高度的种群多样性,我们认为这反映了他们从(非洲)祖先那里继承的专业技术。如今,马龙农民被农业现代化倡议所忽视,他们是独特文化遗产的守护者。值得注意的是,基因组研究结果强调了许多关于马龙人过去的故事。我们预计,类似的研究方法可应用于(土著)社区的其他传家作物,这些作物可能在其农场中保存了自己的历史,以重建、承认和纪念过去。
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引用次数: 0
Chromatin Accessibility and Gene Expression Vary Between a New and Evolved Autopolyploid of Arabidopsis arenosa. 拟南芥新种和进化的自多倍体在染色质可及性和基因表达方面存在差异。
IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-04 DOI: 10.1093/molbev/msae213
Thanvi Srikant, Adrián Gonzalo, Kirsten Bomblies

Polyploids arise from whole-genome duplication (WGD) events, which have played important roles in genome evolution across eukaryotes. WGD can increase genome complexity, yield phenotypic novelty, and influence adaptation. Neo-polyploids have been reported to often show seemingly stochastic epigenetic and transcriptional changes, but this leaves open the question whether these changes persist in evolved polyploids. A powerful approach to address this is to compare diploids, neo-polyploids, and evolved polyploids of the same species. Arabidopsis arenosa is a species that allows us to do this-natural diploid and autotetraploid populations exist, while neo-tetraploids can be artificially generated. Here, we use ATAC-seq to assay local chromatin accessibility, and RNA-seq to study gene expression on matched leaf and petal samples from diploid, neo-tetraploid and evolved tetraploid A. arenosa. We found over 8,000 differentially accessible chromatin regions across all samples. These are largely tissue specific and show distinct trends across cytotypes, with roughly 70% arising upon WGD. Interestingly, only a small proportion is associated with expression changes in nearby genes. However, accessibility variation across cytotypes associates strongly with the number of nearby transposable elements. Relatively few genes were differentially expressed upon genome duplication, and ∼60% of these reverted to near-diploid levels in the evolved tetraploid, suggesting that most initial perturbations do not last. Our results provide new insights into how epigenomic and transcriptional mechanisms jointly respond to genome duplication and subsequent evolution of autopolyploids, and importantly, show that one cannot be directly predicted from the other.

多倍体产生于全基因组复制(WGD)事件,它在真核生物的基因组进化中发挥了重要作用。WGD可以增加基因组的复杂性,产生表型新颖性并影响适应性。据报道,新多倍体常常表现出看似随机的表观遗传和转录变化,但这就留下了一个问题,即这些变化是否会在进化多倍体中持续存在。解决这个问题的一个有效方法是比较同一物种的二倍体、新多倍体和进化多倍体。拟南芥是一个可以让我们做到这一点的物种--存在天然二倍体和自交四倍体种群,而新四倍体可以人工生成。在这里,我们使用 ATAC-seq 来检测局部染色质的可及性,并使用 RNA-seq 来研究二倍体、新四倍体和进化四倍体 A. arenosa 的匹配叶片和花瓣样本的基因表达。我们在所有样本中发现了 8000 多个不同的染色质区域。这些区域在很大程度上具有组织特异性,并在不同细胞型中呈现出不同的趋势,其中约 70% 是在 WGD 时出现的。有趣的是,只有一小部分与附近基因的表达变化有关。然而,不同细胞型的可及性变化与附近转座元件(TE)的数量密切相关。在基因组复制时出现差异表达的基因相对较少,其中约 60% 的基因在进化的四倍体中恢复到接近二倍体的水平,这表明大多数初始扰动不会持续。我们的研究结果为表观基因组和转录机制如何共同应对基因组复制以及自多倍体的后续进化提供了新的视角,而且重要的是,研究结果表明,二者之间无法直接预测。
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引用次数: 0
Predicting Phylogenetic Bootstrap Values via Machine Learning. 通过机器学习预测系统发育引导值
IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-04 DOI: 10.1093/molbev/msae215
Julius Wiegert, Dimitri Höhler, Julia Haag, Alexandros Stamatakis

Estimating the statistical robustness of the inferred tree(s) constitutes an integral part of most phylogenetic analyses. Commonly, one computes and assigns a branch support value to each inner branch of the inferred phylogeny. The still most widely used method for calculating branch support on trees inferred under maximum likelihood (ML) is the Standard, nonparametric Felsenstein bootstrap support (SBS). Due to the high computational cost of the SBS, a plethora of methods has been developed to approximate it, for instance, via the rapid bootstrap (RB) algorithm. There have also been attempts to devise faster, alternative support measures, such as the SH-aLRT (Shimodaira-Hasegawa-like approximate likelihood ratio test) or the UltraFast bootstrap 2 (UFBoot2) method. Those faster alternatives exhibit some limitations, such as the need to assess model violations (UFBoot2) or unstable behavior in the low support interval range (SH-aLRT). Here, we present the educated bootstrap guesser (EBG), a machine learning-based tool that predicts SBS branch support values for a given input phylogeny. EBG is on average 9.4 (σ=5.5) times faster than UFBoot2. EBG-based SBS estimates exhibit a median absolute error of 5 when predicting SBS values between 0 and 100. Furthermore, EBG also provides uncertainty measures for all per-branch SBS predictions and thereby allows for a more rigorous and careful interpretation. EBG can, for instance, predict SBS support values on a phylogeny comprising 1,654 SARS-CoV2 genome sequences within 3 h on a mid-class laptop. EBG is available under GNU GPL3.

估计推断树的统计稳健性是大多数系统发生学分析不可或缺的一部分。通常,我们会计算并给推断出的系统发生的每个内部分支分配一个分支支持度值。在最大似然法(ML)下计算推断树的分支支持度时,目前最广泛使用的方法是标准非参数费尔森斯坦引导支持法(SBS)。由于 SBS 的计算成本较高,人们开发了大量方法来近似 SBS,例如通过快速引导(RB)算法。此外,还有人尝试设计更快的替代支持度量,如 SH-aLRT(下平-长谷川类近似似然比检验)或超快速引导 2(UFBoot2)方法。这些更快的替代方法有一些局限性,比如需要评估模型违反情况(UFBoot2)或在低支持区间范围内的不稳定行为(SH-aLRT)。在此,我们介绍了教育引导猜测器(EBG),这是一种基于机器学习的工具,可预测给定输入系统发生的 SBS 分支支持值。EBG 比 UFBoot2 平均快 9.4 (σ = 5.5) 倍。在预测 0 到 100 之间的 SBS 值时,基于 EBG 的 SBS 估计值的中位绝对误差为 5。此外,EBG 还为所有每个分支的 SBS 预测提供了不确定性度量,因此可以进行更严格、更仔细的解释。例如,EBG 可以在一台中档笔记本电脑上,在 3 小时内预测由 1654 美元 SARS-CoV2 基因组序列组成的系统发生的 SBS 支持值。EBG 在 GNU GPL3 下提供。
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引用次数: 0
VirID: Beyond Virus Discovery-An Integrated Platform for Comprehensive RNA Virus Characterization. VirID:超越病毒发现--RNA 病毒综合特征描述集成平台。
IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-04 DOI: 10.1093/molbev/msae202
Ziyue Yang, Yongtao Shan, Xue Liu, Guowei Chen, Yuanfei Pan, Qinyu Gou, Jie Zou, Zilong Chang, Qiang Zeng, Chunhui Yang, Jianbin Kong, Yanni Sun, Shaochuan Li, Xu Zhang, Wei-Chen Wu, Chunmei Li, Hong Peng, Edward C Holmes, Deyin Guo, Mang Shi

RNA viruses exhibit vast phylogenetic diversity and can significantly impact public health and agriculture. However, current bioinformatics tools for viral discovery from metagenomic data frequently generate false positive virus results, overestimate viral diversity, and misclassify virus sequences. Additionally, current tools often fail to determine virus-host associations, which hampers investigation of the potential threat posed by a newly detected virus. To address these issues we developed VirID, a software tool specifically designed for the discovery and characterization of RNA viruses from metagenomic data. The basis of VirID is a comprehensive RNA-dependent RNA polymerase database to enhance a workflow that includes RNA virus discovery, phylogenetic analysis, and phylogeny-based virus characterization. Benchmark tests on a simulated data set demonstrated that VirID had high accuracy in profiling viruses and estimating viral richness. In evaluations with real-world samples, VirID was able to identify RNA viruses of all types, but also provided accurate estimations of viral genetic diversity and virus classification, as well as comprehensive insights into virus associations with humans, animals, and plants. VirID therefore offers a robust tool for virus discovery and serves as a valuable resource in basic virological studies, pathogen surveillance, and early warning systems for infectious disease outbreaks.

RNA 病毒具有巨大的系统发育多样性,可对公共卫生和农业产生重大影响。然而,目前用于从元基因组数据中发现病毒的生物信息学工具经常会产生假阳性病毒结果,高估病毒多样性,并对病毒序列进行错误分类。此外,目前的工具往往无法确定病毒与宿主的关联,这就阻碍了对新发现病毒所构成潜在威胁的调查。为了解决这些问题,我们开发了 VirID,这是一款专门用于从元基因组数据中发现和鉴定 RNA 病毒的软件工具。VirID 的基础是一个全面的 RNA 依赖性 RNA 聚合酶 (RdRP) 数据库,以加强包括 RNA 病毒发现、系统发育分析和基于系统发育的病毒特征描述在内的工作流程。在模拟数据集上进行的基准测试表明,VirID 在剖析病毒和估计病毒丰富度方面具有很高的准确性。在对真实世界样本的评估中,VirID 不仅能识别所有类型的 RNA 病毒,还能准确估计病毒的遗传多样性和病毒分类,并能全面了解病毒与人类、动物和植物的关联。因此,VirID 为病毒发现提供了强大的工具,是基础病毒学研究、病原体监测和传染病爆发预警系统的宝贵资源。
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引用次数: 0
Functional Optimization in Distinct Tissues and Conditions Constrains the Rate of Protein Evolution. 在不同组织和条件下的功能优化限制了蛋白质的进化速度。
IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-04 DOI: 10.1093/molbev/msae200
Dinara R Usmanova, Germán Plata, Dennis Vitkup

Understanding the main determinants of protein evolution is a fundamental challenge in biology. Despite many decades of active research, the molecular and cellular mechanisms underlying the substantial variability of evolutionary rates across cellular proteins are not currently well understood. It also remains unclear how protein molecular function is optimized in the context of multicellular species and why many proteins, such as enzymes, are only moderately efficient on average. Our analysis of genomics and functional datasets reveals in multiple organisms a strong inverse relationship between the optimality of protein molecular function and the rate of protein evolution. Furthermore, we find that highly expressed proteins tend to be substantially more functionally optimized. These results suggest that cellular expression costs lead to more pronounced functional optimization of abundant proteins and that the purifying selection to maintain high levels of functional optimality significantly slows protein evolution. We observe that in multicellular species both the rate of protein evolution and the degree of protein functional efficiency are primarily affected by expression in several distinct cell types and tissues, specifically, in developed neurons with upregulated synaptic processes in animals and in young and fast-growing tissues in plants. Overall, our analysis reveals how various constraints from the molecular, cellular, and species' levels of biological organization jointly affect the rate of protein evolution and the level of protein functional adaptation.

了解蛋白质进化的主要决定因素是生物学的一项基本挑战。尽管经过数十年的积极研究,但目前人们对细胞蛋白质进化率存在巨大差异的分子和细胞机制仍不甚了解。此外,蛋白质的分子功能如何在多细胞物种的背景下得到优化,以及为什么许多蛋白质(如酶)的平均效率只有中等水平,这些问题也仍不清楚。我们对基因组学和功能数据集的分析表明,在多种生物中,蛋白质分子功能的优化与蛋白质的进化速度之间存在很强的反比关系。此外,我们还发现,高表达的蛋白质往往在功能上更加优化。这些结果表明,细胞表达成本导致丰富蛋白质的功能优化更加明显,而为维持高水平的功能优化而进行的纯化选择大大减缓了蛋白质的进化速度。我们观察到,在多细胞物种中,蛋白质进化的速度和蛋白质功能效率的程度主要受几种不同细胞类型和组织中表达量的影响。具体来说,在动物中,表达在具有上调突触过程的发达神经元中;在植物中,表达在幼嫩和快速生长的组织中。总之,我们的分析揭示了来自分子、细胞和物种生物组织水平的各种制约因素是如何共同影响蛋白质进化速度和蛋白质功能适应水平的。
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引用次数: 0
Functional characterization supports multiple evolutionary origins of pheromone receptors in bark beetles 功能表征支持树皮甲虫信息素受体的多重进化起源
IF 10.7 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-09-17 DOI: 10.1093/molbev/msae196
Twinkle Biswas, Cassie Sims, Jothi Kumar Yuvaraj, Rebecca E Roberts, Christer Löfstedt, Martin N Andersson
Chemical communication using pheromones is thought to have contributed to the diversification and speciation of insects. The species-specific pheromones are detected by specialized pheromone receptors. Whereas the evolution and function of pheromone receptors have been extensively studied in Lepidoptera, only a few pheromone receptors have been identified in beetles, which limits our understanding of their evolutionary histories and physiological functions. To shed light on these questions, we aimed to functionally characterize potential pheromone receptors in the spruce bark beetle Ips typographus (‘Ityp’) and explore their evolutionary origins and molecular interactions with ligands. Males of this species release an aggregation pheromone comprising 2-methyl-3-buten-2-ol and (4S)-cis-verbenol, which attracts both sexes to attacked trees. Using two systems for functional characterization, we show that the highly expressed odorant receptor (OR) ItypOR41 responds specifically to (4S)-cis-verbenol, with structurally similar compounds eliciting minor responses. We next targeted the closely related ItypOR40 and ItypOR45. Whereas ItypOR40 was unresponsive, ItypOR45 showed an overlapping response profile with ItypOR41, but a broader tuning. Our phylogenetic analysis shows that these ORs are present in a different OR clade as compared to all other known beetle pheromone receptors, suggesting multiple evolutionary origins of pheromone receptors in bark beetles. Next, using computational analyses and experimental validation, we reveal two amino acid residues (Gln179 and Trp310) that are important for ligand binding and pheromone specificity of ItypOR41 for (4S)-cis-verbenol, possibly via hydrogen bonding to Gln179. Collectively, our results shed new light on the origins, specificity, and ligand binding mechanisms of pheromone receptors in beetles.
人们认为,利用信息素进行化学交流有助于昆虫的多样化和物种分化。物种特有的信息素由特化的信息素受体检测。鳞翅目昆虫对信息素受体的进化和功能进行了广泛的研究,而甲虫中只有少数信息素受体被鉴定出来,这限制了我们对其进化历史和生理功能的了解。为了揭示这些问题,我们旨在从功能上描述云杉树皮甲虫 Ips typographus("Ityp")的潜在信息素受体,并探索它们的进化起源以及与配体的分子相互作用。该物种的雄性释放一种由2-甲基-3-丁烯-2-醇和(4S)-顺式-verbenol组成的聚集信息素,可吸引雌雄两性到被攻击的树木上。我们利用两个系统进行了功能表征,结果表明高表达的气味受体(OR)ItypOR41对(4S)-顺式-verbenol有特异性反应,结构类似的化合物引起的反应较小。我们接下来的研究对象是与之密切相关的 ItypOR40 和 ItypOR45。ItypOR40 没有反应,而 ItypOR45 的反应曲线与 ItypOR41 重叠,但调谐范围更广。我们的系统进化分析表明,与所有其他已知的甲虫信息素受体相比,这些OR存在于不同的OR支系中,这表明树皮甲虫信息素受体有多种进化起源。接下来,通过计算分析和实验验证,我们揭示了两个氨基酸残基(Gln179 和 Trp310),这两个氨基酸残基可能通过与 Gln179 的氢键结合,对 ItypOR41 与 (4S)-cis-verbenol 的配体结合和信息素特异性具有重要作用。总之,我们的研究结果为甲虫信息素受体的起源、特异性和配体结合机制提供了新的线索。
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引用次数: 0
HaploSweep: detecting and distinguishing recent soft and hard selective sweeps through haplotype structure HaploSweep:通过单倍型结构检测和区分近期的软选择性扫描和硬选择性扫描
IF 10.7 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-09-17 DOI: 10.1093/molbev/msae192
Shilei Zhao, Lianjiang Chi, Mincong Fu, Hua Chen
Identifying soft selective sweeps using genomic data is a challenging yet crucial task in population genetics. In this study, we present HaploSweep, a novel method for detecting and categorizing soft and hard selective sweeps based on haplotype structure. Through simulations spanning a broad range of selection intensities, softness levels, and demographic histories, we demonstrate that HaploSweep outperforms iHS, nSL, and H12 in detecting soft sweeps. HaploSweep achieves high classification accuracy—0.9247 for CHB, 0.9484 for CEU, and 0.9829 YRI—when applied to simulations in line with the human Out-of-Africa demographic model. We also observe that the classification accuracy remains consistently robust across different demographic models. Additionally, we introduce a refined method to accurately distinguish soft shoulders adjacent to hard sweeps from soft sweeps. Application of HaploSweep to genomic data of CHB, CEU, and YRI populations from the 1000 genomes project has led to the discovery of several new genes that bear strong evidence of population-specific soft sweeps (HRNR, AMBRA1, BFA2T2, DYNC2H1, and RANBP2 etc), with prevalent associations to immune functions and metabolic processes. The validated performance of HaploSweep, demonstrated through both simulated and real data, underscores its potential as a valuable tool for detecting and comprehending the role of soft sweeps in adaptive evolution.
利用基因组数据识别软选择性横扫是群体遗传学中一项极具挑战性但又至关重要的任务。在本研究中,我们提出了一种基于单倍型结构检测和分类软选择性和硬选择性横扫的新方法--HaploSweep。通过对广泛的选择强度、软度水平和人口历史进行模拟,我们证明 HaploSweep 在检测软扫描方面优于 iHS、nSL 和 H12。当把 HaploSweep 应用于符合人类非洲以外人口模型的模拟时,它的分类准确率很高--CHB 为 0.9247,CEU 为 0.9484,YRI 为 0.9829。我们还观察到,在不同的人口模型中,分类准确率始终保持稳健。此外,我们还介绍了一种经过改进的方法,用于准确区分与硬横扫相邻的软肩和软横扫。将 HaploSweep 应用于来自 1000 基因组计划的 CHB、CEU 和 YRI 群体的基因组数据,发现了几个新基因(HRNR、AMBRA1、BFA2T2、DYNC2H1 和 RANBP2 等),这些基因与免疫功能和新陈代谢过程密切相关,是群体特异性软扫描的有力证据。HaploSweep 的性能通过模拟和真实数据得到了验证,这突显了它作为检测和理解软扫描在适应性进化中的作用的宝贵工具的潜力。
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引用次数: 0
Whole genomes inform genetic rescue strategy for montane red foxes in North America 全基因组为北美山地红狐的基因拯救战略提供信息
IF 10.7 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-09-17 DOI: 10.1093/molbev/msae193
Cate B Quinn, Sophie Preckler-Quisquater, Michael R Buchalski, Benjamin N Sacks
A few iconic examples have proven the value of facilitated gene flow for counteracting inbreeding depression and staving off extinction, yet the practice is often not implemented for fear of causing outbreeding depression. Using genomic sequencing, climatic niche modeling, and demographic reconstruction, we sought to assess the risks and benefits of using translocations as a tool for recovery of endangered montane red fox (Vulpes vulpes) populations in the western United States. We demonstrated elevated inbreeding and homozygosity of deleterious alleles across all populations, but especially those isolated in the Cascade and Sierra Nevada ranges. Consequently, translocations would be expected to increase population growth by masking deleterious recessive alleles. Demographic reconstructions further indicated shallow divergences of less than a few thousand years among montane populations, suggesting low risk of outbreeding depression. These genomic-guided findings set the stage for future management, the documentation of which will provide a roadmap for recovery of other data-deficient taxa.
一些标志性的例子已经证明了促进基因流动对于抵消近亲繁殖抑制和避免物种灭绝的价值,但这种做法往往因为担心造成近亲繁殖抑制而没有实施。利用基因组测序、气候生态位建模和人口重建,我们试图评估使用迁移作为恢复美国西部濒危山地红狐(Vulpes vulpes)种群的工具的风险和益处。我们发现,所有种群的近亲繁殖率和有害等位基因的同源性都很高,尤其是那些孤立于喀斯喀特山脉和内华达山脉的种群。因此,易位有望通过掩盖有害的隐性等位基因来增加种群增长。人口重建进一步表明,山地种群之间的浅分化少于几千年,这表明出现繁殖抑制的风险很低。这些以基因组学为指导的研究结果为未来的管理奠定了基础,其记录将为其他缺乏数据的类群的恢复提供路线图。
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引用次数: 0
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Molecular biology and evolution
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