Population genomics

人口基因组学
  • 文章类型: Journal Article
    Horseshoe bats (genus Rhinolophus, family Rhinolophidae) represent an important group within chiropteran phylogeny due to their distinctive traits, including constant high-frequency echolocation, rapid karyotype evolution, and unique immune system. Advances in evolutionary biology, supported by high-quality reference genomes and comprehensive whole-genome data, have significantly enhanced our understanding of species origins, speciation mechanisms, adaptive evolutionary processes, and phenotypic diversity. However, genomic research and understanding of the evolutionary patterns of Rhinolophus are severely constrained by limited data, with only a single published genome of R. ferrumequinum currently available. In this study, we constructed a high-quality chromosome-level reference genome for the intermediate horseshoe bat ( R. affinis). Comparative genomic analyses revealed potential genetic characteristics associated with virus tolerance in Rhinolophidae. Notably, we observed expansions in several immune-related gene families and identified various genes functionally associated with the SARS-CoV-2 signaling pathway, DNA repair, and apoptosis, which displayed signs of rapid evolution. In addition, we observed an expansion of the major histocompatibility complex class II (MHC-II) region and a higher copy number of the HLA- DQB2 gene in horseshoe bats compared to other chiropteran species. Based on whole-genome resequencing and population genomic analyses, we identified multiple candidate loci (e.g., GLI3) associated with variations in echolocation call frequency across R. affinis subspecies. This research not only expands our understanding of the genetic characteristics of the Rhinolophus genus but also establishes a valuable foundation for future research.
    菊头蝠物种(菊头蝠属,菊头蝠科)是蝙蝠众多科中的一个重要类群,它们具有多个显著区别于其他蝙蝠的特征,例如特化的高恒定频率回声定位信号、快速的核型进化以及独特的免疫系统。利用高质量参考基因组和全基因组数据进行的进化研究,使我们对物种起源、物种形成、适应性进化和表型变异有了更深入的见解。然而,目前有限的基因组数据(仅有一种菊头蝠物种(马铁菊头蝠, Rhinolophus ferrumequinum)的基因组已发表)限制了我们对菊头蝠进化模式的深入理解。在该研究中,我们构建了高质量染色体水平的中菊头蝠( R. affinis)参考基因组。通过比较基因组分析,我们揭示了与菊头蝠物种病毒耐受性相关的潜在遗传特征,包括多个与免疫反应相关的基因家族发生了显著扩张,以及多个与SARS-CoV-2信号通路、DNA修复和细胞凋亡功能相关的基因,发生了快速进化。此外,与其他蝙蝠相比,我们发现菊头蝠基因组中的MHC-2区域有所扩张,尤其是 HLA-DQB2基因呈现更高的拷贝数。最后,通过对中菊头蝠种群进行全基因组重测序分析,我们鉴定到了多个与中菊头蝠亚种回声定位频率变异相关的候选基因(例如基因 GLI3)。我们的工作不仅加深了对菊头蝠类群遗传特征的理解,还为将来蝙蝠比较基因组学研究提供了重要的数据基础。.
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  • 文章类型: Journal Article
    Understanding the proximate and ultimate causes of phenotypic variation is fundamental in evolutionary research, as such variation provides the substrate for selection to act upon. Although trait variation can arise due to selection, the importance of neutral processes is sometimes understudied. We presented the first reference-quality genome of the Red Diamond Rattlesnake (Crotalus ruber) and used range-wide \'omic data to estimate the degree to which neutral and adaptive evolutionary processes shaped venom evolution. We characterized population structure and found substantial genetic differentiation across two populations, each with distinct demographic histories. We identified significant differentiation in venom expression across age classes with substantially reduced but discernible differentiation across populations. We then used conditional redundancy analysis to test whether venom expression variation was best predicted by neutral divergence patterns or geographically-variable (a)biotic factors. Snake size was the most significant predictor of venom variation, with environment, prey availability, and neutral sequence variation also identified as significant factors, though to a lesser degree. By directly including neutrality in the model, our results confidently highlight the predominant, yet not singular, role of life history in shaping venom evolution.
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  • 文章类型: Journal Article
    玉米(玉米ssp。Mays)与它的一个野生亲戚不同,TeosinteZeaMaysssp.parvigluis,大约9000年前在墨西哥西南部的低地。在这种分歧之后,玉米在整个美洲迅速扩张,成为主食。这种分散伴随着重大的人口统计学和选择性变化,导致了许多具有复杂进化史的当地品种的发展,但仍未完全理解。近年来,基因组的进步挑战了传统的玉米驯化模型,并传播到南美。已经描述了至少三种与不同迁徙波相关的不同遗传谱系:祖先安第斯,低地祖先,和泛美。此外,玉米提辛的重要作用。墨西哥,最近发现了现代玉米的进化。基因组研究揭示了高原适应过程,揭示了中美洲和南美洲大部分独立的适应事件。随着新证据的出现,玉米多样性背后的区域复杂性和对全面的需求,多尺度方法变得显而易见。面对气候变化和不断发展的农业景观,南美本地玉米的保护越来越受到人们的关注,基因组学是鉴定和保存本地适应种质遗传变异性的宝贵工具。
    Maize (Zea mays ssp. mays) diverged from one of its wild relatives, the teosinte Zea mays ssp. parviglumis, in the lowlands of southwest Mexico approximately 9000 years ago. Following this divergence, maize rapidly expanded throughout the Americas, becoming a staple food. This dispersal was accompanied by significant demographic and selective changes, leading to the development of numerous local varieties with a complex evolutionary history that remains incompletely understood. In recent years, genomic advances have challenged traditional models of maize domestication and spread to South America. At least three distinct genetic lineages associated with different migratory waves have been described: ancestral Andean, ancestral Lowland, and Pan-American. Additionally, the significant role of the teosinte Zea mays ssp. mexicana, in the evolution of modern maize has been recently uncovered. Genomic studies have shed light into highland adaptation processes, revealing largely independent adaptation events in Meso- and South America. As new evidence emerges, the regional complexity underlying maize diversity and the need for comprehensive, multi-scale approaches become evident. In the face of climate change and evolving agricultural landscapes, the conservation of native maize in South America is of growing interest, with genomics serving as an invaluable tool for identifying and preserving the genetic variability of locally adapted germplasm.
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  • 文章类型: Journal Article
    南美考古记录充分证明了过去人类的社会文化活力。这也得到了古代基因组分析的支持,通过显示基因在整个区域流动的证据。虽然这些信号的程度尚待测试,越来越多的古代基因组允许更精细的假设被评估。在这项研究中,我们评估了与Inka仪式相关的个体的遗传多样性,Qhapaqhucha.作为仪式的一部分,一个或多个人被安葬在安第斯山脉的山顶上,埋葬着英卡和当地风格的祭品,留下了非常独特的记录。使用古基因组学工具,我们分析了三个个体:来自ElPlomo山(智利)和ElToro山(阿根廷)的两个新生成的基因组,和先前发表的来自阿根廷(阿空加瓜山)的基因组。我们的结果揭示了一个复杂的人口统计学情景,每个个体表现出不同的遗传亲和力。此外,虽然两个个体与印加帝国南部地区的现今和古代种群表现出遗传相似性,第三个人可能已经进行了长途运动。我们观察到的来自相似文化背景的个体之间的遗传多样性支持Inka在合并新领土时实施的高度多样化的策略。更广泛地说,通过讨论该地区人口流动的影响和时间性,这项研究有助于我们对安第斯山脉人口动态的日益理解。
    The South American archaeological record has ample evidence of the socio-cultural dynamism of human populations in the past. This has also been supported through the analysis of ancient genomes, by showing evidence of gene flow across the region. While the extent of these signals is yet to be tested, the growing number of ancient genomes allows for more fine-scaled hypotheses to be evaluated. In this study, we assessed the genetic diversity of individuals associated with the Inka ritual, Qhapaq hucha. As part of this ceremony, one or more individuals were buried with Inka and local-style offerings on mountain summits along the Andes, leaving a very distinctive record. Using paleogenomic tools, we analyzed three individuals: two newly-generated genomes from El Plomo Mountain (Chile) and El Toro Mountain (Argentina), and a previously published genome from Argentina (Aconcagua Mountain). Our results reveal a complex demographic scenario with each of the individuals showing different genetic affinities. Furthermore, while two individuals showed genetic similarities with present-day and ancient populations from the southern region of the Inka empire, the third individual may have undertaken long-distance movement. The genetic diversity we observed between individuals from similar cultural contexts supports the highly diverse strategies the Inka implemented while incorporating new territories. More broadly, this research contributes to our growing understanding of the population dynamics in the Andes by discussing the implications and temporality of population movements in the region.
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  • 文章类型: Journal Article
    进化生物学的中心目标是了解不同的进化过程如何导致野生种群的性状变化。然而,量化野外的进化变化需要将性状变化与因果位点等位基因频率的变化联系起来。然而,允许进行此类测试的数据集极为罕见,现有的理论方法很难解释在生态环境中可能发生的进化动力学。在野生三叶蛇棘鱼(Gasterosteusaculeatus)上使用长达十年的整合物组到基因组时间序列数据集,我们确定了不同的选择模式(定向,情节,和平衡)驱动相关性状随时间的微观进化变化。最引人注目的是,我们表明,摄食性状在10代中发生了25%的变化,这是由遗传结构的变化驱动的(即,在基因组育种值和遗传位点上用于摄食性状的等位基因频率中)。重要的是,与摄食性状相关的遗传基因座的等位基因频率以大于漂移下预期的速率变化,表明观察到的变化是方向选择的结果。在该系统的周期性种群崩溃中,与游泳性状相关的基因座的等位基因频率动力学似乎处于波动选择之下。我们的结果表明,野生种群的微观进化变化的特征是不同的选择模式同时作用于不同的性状,这可能对相关性状的进化产生重要影响。我们的研究提供了迄今为止最彻底的描述之一,说明了微观进化过程如何导致自然种群的性状变化。
    A central goal in evolutionary biology is to understand how different evolutionary processes cause trait change in wild populations. However, quantifying evolutionary change in the wild requires linking trait change to shifts in allele frequencies at causal loci. Nevertheless, datasets that allow for such tests are extremely rare and existing theoretical approaches poorly account for the evolutionary dynamics that likely occur in ecological settings. Using a decade-long integrative phenome-to-genome time-series dataset on wild threespine stickleback (Gasterosteus aculeatus), we identified how different modes of selection (directional, episodic, and balancing) drive microevolutionary change in correlated traits over time. Most strikingly, we show that feeding traits changed by as much 25% across 10 generations which was driven by changes in the genetic architecture (i.e., in both genomic breeding values and allele frequencies at genetic loci for feeding traits). Importantly, allele frequencies at genetic loci related to feeding traits changed at a rate greater than expected under drift, suggesting that the observed change was a result of directional selection. Allele frequency dynamics of loci related to swimming traits appeared to be under fluctuating selection evident in periodic population crashes in this system. Our results show that microevolutionary change in a wild population is characterized by different modes of selection acting simultaneously on different traits, which likely has important consequences for the evolution of correlated traits. Our study provides one of the most thorough descriptions to date of how microevolutionary processes result in trait change in a natural population.
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  • 文章类型: Journal Article
    背景:内渗反复被证明在物种适应极端环境中起重要作用,然而,渗入如何使具有特殊地下生活方式的啮齿动物适应高海拔尚不清楚。Myospalacinae是一组地下啮齿动物,其中高海拔高原zokors(Eospalaxbaleyi)和低海拔甘肃zokors(E.cansus)在青藏高原(QTP)的草地生态系统中共生分布。一起,它们为研究渗入在低海拔地下啮齿动物适应高海拔中的作用提供了模型。
    结果:应用低覆盖率全基因组重测序和群体遗传学分析,我们发现了从高原zokors到甘肃zokors的适应性渗入的证据,这可能有助于后者适应QTP的高海拔环境。我们确定了具有与能量代谢相关功能的阳性选择基因,心血管系统发育,钙离子运输,和对缺氧的反应可能对高原zokors和甘肃zokors高海拔人群适应高原环境做出了重要贡献。
    结论:高原杂种低氧适应相关基因的渗入可能在甘肃杂种对高原环境的适应中起作用。我们的研究为了解QTP上物种的适应性进化以及物种渗入在适应高海拔环境中的重要性提供了新的见解。
    BACKGROUND: Introgression has repeatedly been shown to play an important role in the adaptation of species to extreme environments, yet how introgression enables rodents with specialized subterranean lifestyle to acclimatize to high altitudes is still unclear. Myospalacinae is a group of subterranean rodents, among which the high-altitude plateau zokors (Eospalax baileyi) and the low-altitude Gansu zokors (E. cansus) are sympatrically distributed in the grassland ecosystems of the Qinghai-Tibet Plateau (QTP). Together, they provide a model for the study of the role of introgression in the adaptation of low-altitude subterranean rodents to high altitudes.
    RESULTS: Applying low-coverage whole-genome resequencing and population genetics analyses, we identified evidence of adaptive introgression from plateau zokors into Gansu zokors, which likely facilitated the adaptation of the latter to the high-altitude environment of the QTP. We identified positively selected genes with functions related to energy metabolism, cardiovascular system development, calcium ion transport, and response to hypoxia which likely made critical contributions to adaptation to the plateau environment in both plateau zokors and high-altitude populations of Gansu zokors.
    CONCLUSIONS: Introgression of genes associated with hypoxia adaptation from plateau zokors may have played a role in the adaptation of Gansu zokors to the plateau environment. Our study provides new insights into the understanding of adaptive evolution of species on the QTP and the importance of introgression in the adaptation of species to high-altitude environments.
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  • 文章类型: Journal Article
    基因组区域有时显示出与全基因组种群结构不同的遗传变异模式。这种偏差通常被解释为代表选择的影响。然而,系统调查非选择性因素是否以及如何,例如重组率,可以影响不同的模式是有限的。这里,我们将不同的遗传变异模式与鸣鸟的重组率降低联系起来,欧亚黑帽(Sylviaatricapilla),使用新的参考基因组组装,全基因组重测序数据和重组图。我们发现,遗传变异的不同模式反映了基因组区域的单倍型结构,在人群中重组率降低的患病率不同。在大多数人口共有的低重组地区,不同的模式反映出明显的单倍型在多个种群中分离。在仅在少数人群中发现的低重组区域,不同的模式代表低重组群体中隐蔽单倍型之间的差异。有了模拟,我们证实,这些不同的模式是通过降低重组率而中性进化的,可以覆盖选择的效果。我们的结果强调,通过进化降低局部重组率可以出现不同的遗传变异模式。因此,作为可进化性状的重组景观在决定遗传变异沿基因组的异质性分布方面起着重要作用。
    Genomic regions sometimes show patterns of genetic variation distinct from the genome-wide population structure. Such deviations have often been interpreted to represent effects of selection. However, systematic investigation of whether and how non-selective factors, such as recombination rates, can affect distinct patterns has been limited. Here, we associate distinct patterns of genetic variation with reduced recombination rates in a songbird, the Eurasian blackcap (Sylvia atricapilla), using a new reference genome assembly, whole-genome resequenc- ing data and recombination maps. We find that distinct patterns of genetic variation reflect haplotype structure at genomic regions with different prevalence of reduced recombination rate across populations. At low-recombining regions shared in most populations, distinct patterns reflect conspicuous haplotypes segregating in multiple populations. At low-recombining regions found only in a few populations, distinct patterns represent variance among cryptic haplotypes within the low-recombining populations. With simulations, we confirm that these distinct patterns evolve neutrally by reduced recombination rate, on which the effects of selection can be overlaid. Our results highlight that distinct patterns of genetic variation can emerge through evolutionary reduction of local recombination rate. The recombination landscape as an evolvable trait therefore plays an important role determining the heterogeneous distribution of genetic variation along the genome.
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  • 文章类型: Journal Article
    盖拉达,该属最后幸存的物种,在埃塞俄比亚高地占据独特且高度专业化的生态位。细分为三个地理定义的种群(北方,中部和南部)已根据遗传分析为该物种初步提出,但基因组数据仅针对其中两个组(北部和中部)进行了研究。在这里,我们将从东非大裂谷南部的种群中采样的新生成的个体全基因组序列与其他两个gelada种群的可用数据相结合,以重建该物种的进化史。整合基因组和古气候数据,我们发现跨种群和Papio物种的基因流跟踪了过去的气候变化。全新世期间南部麦拉达经历的隔离和气候条件塑造了当地的多样性,并产生了与饮食相关的基因组特征。
    Theropithecus gelada, the last surviving species of this genus, occupy a unique and highly specialised ecological niche in the Ethiopian highlands. A subdivision into three geographically defined populations (Northern, Central and Southern) has been tentatively proposed for this species on the basis of genetic analyses, but genomic data have been investigated only for two of these groups (Northern and Central). Here we combined newly generated whole genome sequences of individuals sampled from the population living south of the East Africa Great Rift Valley with available data from the other two gelada populations to reconstruct the evolutionary history of the species. Integrating genomic and paleoclimatic data we found that gene-flow across populations and with Papio species tracked past climate changes. The isolation and climatic conditions experienced by Southern geladas during the Holocene shaped local diversity and generated diet-related genomic signatures.
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  • 文章类型: Journal Article
    在国际自然保护联盟红色名录上,大熊猫的灭绝风险已从“濒危”降级为“脆弱”,但是它的栖息地比以往任何时候都更加分散,根据中国政府发布的第四次全国调查,有33只孤立的大熊猫种群。对遗传背景的进一步全面调查和对野生种群保护状况的深入评估仍然是必要的,也是迫切需要的。这里,我们对612只大熊猫的基因组进行了测序,平均深度约为26倍,并生成了高分辨率的基因组变异图,其中包含超过2000万个变体,涵盖了来自中国六个山脉和圈养代表的野生个体。通过进行细粒度的遗传结构,我们确定了闽山种群中不同的遗传簇。与历史种群动态相关的近亲繁殖和遗传负荷的估计表明,未来的保护工作应特别关注秦岭和凉山种群。释放具有与受体种群相似遗传背景的圈养个体似乎是恢复野生大熊猫种群的有利遗传拯救策略,因为这种方法在野生种群中引入的有害突变比与分化谱系交配少。这些发现强调了大规模种群基因组学的优越性,为未来大熊猫的保护提供了精确的指导。
    The extinction risk of the giant panda has been demoted from \"endangered\" to \"vulnerable\" on the International Union for Conservation of Nature Red List, but its habitat is more fragmented than ever before, resulting in 33 isolated giant panda populations according to the fourth national survey released by the Chinese government. Further comprehensive investigations of the genetic background and in-depth assessments of the conservation status of wild populations are still necessary and urgently needed. Here, we sequenced the genomes of 612 giant pandas with an average depth of ~26× and generated a high-resolution map of genomic variation with more than 20 million variants covering wild individuals from six mountain ranges and captive representatives in China. We identified distinct genetic clusters within the Minshan population by performing a fine-grained genetic structure. The estimation of inbreeding and genetic load associated with historical population dynamics suggested that future conservation efforts should pay special attention to the Qinling and Liangshan populations. Releasing captive individuals with a genetic background similar to the recipient population appears to be an advantageous genetic rescue strategy for recovering the wild giant panda populations, as this approach introduces fewer deleterious mutations into the wild population than mating with differentiated lineages. These findings emphasize the superiority of large-scale population genomics to provide precise guidelines for future conservation of the giant panda.
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  • 文章类型: Journal Article
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