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Higher Sex-Reversal Rate of Urban Frogs in a Common-Garden Experiment Suggests Adaptive Microevolution 在普通花园实验中,城市青蛙较高的性别反转率表明适应性微进化
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-04-07 DOI: 10.1111/eva.70093
Veronika Bókony, Emese Balogh, Zsanett Mikó, Andrea Kásler, Zoltán Örkényi, Nikolett Ujhegyi

Ectothermic vertebrates with genotypic sex determination may adjust their sexual phenotype to early-life environmental conditions by sex reversal, and theoretical models predict diverse consequences for population dynamics and microevolution under environmental change. Environments that frequently expose individuals to sex-reversing effects may select for or against the propensity to undergo sex reversal, depending on the relative fitness of sex-reversed individuals. Yet, empirical data on the adaptive value and evolutionary potential of sex reversal is scarce. Here we conducted a common-garden experiment with agile frogs (Rana dalmatina) that respond to larval heat stress by sex reversal, to test whether sex-reversal propensity has changed via microevolution in populations that live in anthropogenic habitats where potentially sex-reversing heat events are more frequent, compared to populations that live in cooler woodland habitats. Furthermore, to infer the adaptive value of sex reversal, we compared fitness-related traits between heat-exposed genotypic females that phenotypically developed into males (sex-reversed) or females (sex-concordant). We found that the frequency of sex reversal varied between sibgroups and was higher in the sibgroups originating from anthropogenic habitats, regardless of the thermal environment they had been exposed to during the larval sex-determination period. Among heat-exposed animals, time to metamorphosis was similar between sex-reversed individuals and sex-concordant females, but the former reached larger body mass by the end of the experiment than the latter, approaching the mass of sex-concordant males. These results suggest that sex-reversal propensity may have increased in anthropogenic environments by adaptive microevolution, potentially to minimize the fitness cost of reduced growth caused by heat events. Thus, environmental sex reversal has the potential to provide an adaptive strategy for ectothermic vertebrates to cope with challenges of the Anthropocene. Such knowledge on the causes and consequences of sex reversal will help pinpoint which populations are most threatened by extinction due to climatically influenced sex determination.

具有基因型性别决定的外温脊椎动物可能会通过性别逆转来调整其性表型以适应生命早期的环境条件,理论模型预测了环境变化对种群动态和微进化的不同影响。经常使个体暴露于性别逆转效应的环境可能会根据性别逆转个体的相对适合度,选择支持或反对性别逆转的倾向。然而,有关性别逆转的适应价值和进化潜力的经验数据却很少。在这里,我们用敏捷蛙(Rana dalmatina)进行了一个普通花园实验,这种蛙通过性别逆转来应对幼虫热应激,与生活在较凉爽的林地栖息地的种群相比,生活在可能导致性别逆转的热事件更频繁发生的人为栖息地的种群是否通过微进化改变了性别逆转倾向。此外,为了推断性别逆转的适应价值,我们比较了表型上发育成雄性(性别逆转)或雌性(性别一致)的受热基因型雌性动物之间的适应性相关特征。我们发现,性别逆转的频率在不同的同胞组之间存在差异,而在来自人为栖息地的同胞组中,性别逆转的频率较高,与它们在幼虫性别决定期所处的热环境无关。在暴露于热环境的动物中,性别逆转个体和性别一致的雌性个体的变态时间相似,但前者在实验结束时的体重大于后者,接近性别一致的雄性个体的体重。这些结果表明,在人类活动的环境中,性别逆转的倾向可能会通过适应性微进化而增加,这可能是为了最大限度地降低热事件导致的生长减少所带来的健康代价。因此,环境性别逆转有可能为外温脊椎动物提供一种适应策略,以应对人类世的挑战。了解性别逆转的原因和后果将有助于确定哪些种群因受气候影响的性别决定而面临最大的灭绝威胁。
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引用次数: 0
No Evidence for Distinct Transcriptomic Subgroups of Devil Facial Tumor Disease (DFTD) 没有证据表明魔鬼面部肿瘤病(DFTD)存在不同的转录组亚群
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-04-01 DOI: 10.1111/eva.70091
Cleopatra Petrohilos, Emma Peel, Kimberley C. Batley, Samantha Fox, Carolyn J. Hogg, Katherine Belov

Contagious cancers represent one of the least understood types of infections in wildlife. Devil Facial Tumor Disease (comprised of two different contagious cancers, DFT1 and DFT2) has led to an 80% decline in the Tasmanian devil (Sarcophilus harrisii ) population at the regional level since it was first observed in 1996. There are currently no treatment options for the disease, and research efforts are focused on vaccine development. Although DFT1 is clonal, phylogenomic studies have identified different genetic variants of the pathogen. We postulated that different genetic strains may have different gene expression profiles and would therefore require different vaccine components. Here, we aimed to test this hypothesis by applying two types of unsupervised clustering (hierarchical and k-means) to 35 DFT1 transcriptomes selected from the disease's four major phylogenetic clades. The two algorithms produced conflicting results, and there was low support for either method individually. Validation metrics, such as the Gap statistic method, the Elbow method, and the Silhouette method, were ambiguous, contradictory, or indicated that our dataset only consisted of a single cluster. Collectively, our results show that the different phylogenetic clades of DFT1 all have similar gene expression profiles. Previous studies have suggested that transcriptomic differences exist between tumours from different locations. However, our study differs in that it considers both tumor purity and genotypic clade when analysing differences between DFTD biopsies. These results have important implications for therapeutic development, as they indicate that a single vaccine or treatment approach has the potential to be effective for a large cross-section of DFT1 tumors. As one of the largest studies to use transcriptomics to investigate phenotypic variation within a single contagious cancer, it also provides novel insight into this unique group of diseases.

传染性癌症是野生动物中最不为人所知的感染类型之一。魔鬼面部肿瘤病(由两种不同的传染性癌症,DFT1和DFT2组成)自1996年首次发现以来,已导致区域一级塔斯马尼亚魔鬼(Sarcophilus harrisii)种群减少80%。目前还没有针对这种疾病的治疗方案,研究工作集中在疫苗开发上。虽然DFT1是克隆的,但系统基因组学研究已经确定了该病原体的不同遗传变异。我们假设不同的遗传菌株可能具有不同的基因表达谱,因此需要不同的疫苗成分。在这里,我们旨在通过应用两种类型的无监督聚类(分层和k-means)对从该疾病的四个主要系统发育分支中选择的35个DFT1转录组进行检验。这两种算法产生了相互矛盾的结果,并且对任何一种方法单独的支持度都很低。验证指标,如Gap统计方法、肘部方法和廓形方法,是模糊的、矛盾的,或者表明我们的数据集仅由单个集群组成。总之,我们的研究结果表明,DFT1的不同进化枝都具有相似的基因表达谱。先前的研究表明,不同位置的肿瘤存在转录组学差异。然而,我们的研究的不同之处在于,在分析DFTD活检的差异时,它同时考虑了肿瘤纯度和基因型分支。这些结果对治疗发展具有重要意义,因为它们表明单一疫苗或治疗方法有可能对大断面DFT1肿瘤有效。作为使用转录组学研究单一传染性癌症表型变异的最大研究之一,它也为这一独特的疾病群体提供了新的见解。
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引用次数: 0
Hierarchical Neutral and Non-Neutral Spatial Genetic Structuring in the European Sardine (Sardina pilchardus) Revealed by Genomic Analysis: Implications for Management 基因组分析揭示了欧洲沙丁鱼(沙丁鱼pilchardus)的等级中性和非中性空间遗传结构:对管理的影响
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-04-01 DOI: 10.1111/eva.70080
Niall J. McKeown, Christophe Lebigre, Jeroen van der Kooij, Martin Huret

The European sardine (Sardina pilchardus) sustains some of the most important East Atlantic fisheries and is exhibiting pronounced phenotypic and distributional changes linked to environmental changes. The application of high-resolution genomic methods is recommended to provide insights into population demographics and patterns of ecological and evolutionary diversification. This study performed genome wide SNP analysis of samples collected across understudied NE Atlantic waters as well as geographical outgroup samples from Morocco and the Western Mediterranean. The data revealed pronounced differentiation of three regional groups (NE Atlantic, Morocco, and Western Mediterranean) that can be linked to glacial vicariance and contemporary dispersal limitations. Structuring was also apparent at outlier loci adding to evidence that genome architecture and non-neutral processes are influencing sardine populations at various spatial scales. The highly resolved Morocco group may be a previously undescribed and localized lineage and confirms complex stock structure along the North African coast. Among the NE Atlantic samples, genome wide patterns confirm restricted gene flow between Biscay and North Sea sardine with signatures of isolation by distance. FST, individual assignment, and introgression tail analyses of outlier loci revealed further structuring and identify a North Sea—Eastern Channel group distinct from a Bay of Biscay-Celtic Sea-Western Channel group. This pattern contradicts current management boundaries and indicates that increasing sardine numbers in the North Sea reflect an expansion of an eastern English Channel-North Sea fringe population. While this confirms the ability of the species' northern peripheral populations to expand in response to changing conditions, the genetically differentiated southern populations may differ in this regard. Overall, this study adds to a developing genetic framework for understanding sardine biocomplexity and provides resources for management.

欧洲沙丁鱼(沙丁鱼pilchardus)维持着一些最重要的东大西洋渔业,并表现出与环境变化有关的显著表型和分布变化。建议应用高分辨率基因组学方法来深入了解人口统计学以及生态和进化多样化的模式。本研究对未充分研究的东北大西洋水域以及摩洛哥和西地中海的地理外群样本进行了全基因组SNP分析。数据显示,三个区域群(东北大西洋、摩洛哥和西地中海)的明显分化可能与冰川迁移和当代扩散限制有关。在异常位点上,结构也很明显,这进一步证明了基因组结构和非中性过程正在影响不同空间尺度上的沙丁鱼种群。高度解析的摩洛哥类群可能是一个先前未被描述的局部谱系,并证实了沿北非海岸的复杂种群结构。在东北大西洋样本中,基因组宽模式证实了比斯开沙丁鱼和北海沙丁鱼之间有限的基因流动,具有距离隔离的特征。FST、个体分配和异常位点的渗透尾分析揭示了进一步的结构,并确定了北海-东海峡群体与比斯开湾-凯尔特海-西海峡群体不同。这种模式与目前的管理边界相矛盾,表明北海沙丁鱼数量的增加反映了东英吉利海峡-北海边缘人口的扩张。虽然这证实了该物种北部边缘种群在应对不断变化的条件下扩张的能力,但在这方面,遗传分化的南部种群可能有所不同。总的来说,这项研究为了解沙丁鱼的生物复杂性增加了一个正在发展的遗传框架,并为管理提供了资源。
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引用次数: 0
Genetic Basis of Reproductive Isolation in Torrey Pine (Pinus torreyana Parry): Insights From Hybridization and Adaptation Torrey Pine (Pinus torreyana Parry)生殖分离的遗传基础:来自杂交和适应的见解
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-03-31 DOI: 10.1111/eva.70094
Lionel N. Di Santo, Alayna Mead, Jessica W. Wright, Jill A. Hamilton

Tree species are often locally adapted to their environments, but the extent to which environmental adaptation contributes to incipient speciation is unclear. One of the rarest pines in the world, Torrey pine (Pinus torreyana Parry), persists naturally across one island and one mainland population in southern California. The two populations are morphologically and genetically differentiated but experience some connectivity, making it an ideal system for assessing the evolution of reproductive isolation. Previous work has found evidence of heterosis in F1 mainland-island hybrids, suggesting genetic rescue could be beneficial in the absence of reproductive barriers. Using ddRADseq and GWAS for a common garden experiment of island, mainland, and F1 individuals, we identified candidate loci for environmentally driven reproductive isolation, their function, and their relationship to fitness proxies. By simulating neutral evolution and admixture between the two populations, we identified loci that exhibited reduced heterozygosity in the F1s, evidence of selection against admixture. SNPs with reduced F1 heterozygosity were enriched for growth and pollination functions, suggesting genetic variants that could be involved in the evolution of reproductive barriers between populations. One locus with reduced F1 heterozygosity exhibited strong associations with growth and reproductive fitness proxies in the common garden, with the mainland allele conferring increased fitness. If this locus experiences divergent selection in the two natural populations, it could promote their reproductive isolation. Finally, although hybridization largely reduced allele fixation in the F1s initially, indicating heterosis is likely due to the masking of deleterious alleles, the emergence of reproductive isolation between populations may diminish the longer-term benefits of genetic rescue in F2 or advanced-generation hybrids. As Torrey pine is a candidate for interpopulation genetic rescue, caution is warranted where longer-term gene flow between diverged populations may result in reduced fitness if barriers have evolved.

树种通常在局部适应其环境,但环境适应对早期物种形成的贡献程度尚不清楚。世界上最稀有的松树之一,托利松(Pinus torreyana Parry),在南加州的一个岛屿和一个大陆种群中自然存在。这两个种群在形态和遗传上有差异,但也有一定的连通性,使其成为评估生殖隔离进化的理想系统。先前的研究已经发现了F1大陆-岛屿杂交品种杂种优势的证据,这表明在没有繁殖障碍的情况下,基因拯救可能是有益的。利用ddRADseq和GWAS对岛屿、大陆和F1个体进行了花园实验,我们确定了环境驱动生殖隔离的候选基因座、它们的功能以及它们与适合度代理的关系。通过模拟两个种群之间的中性进化和混合,我们确定了f15中表现出低杂合性的位点,这是选择对抗混合的证据。F1杂合性降低的snp在生长和授粉功能上富集,表明遗传变异可能参与种群间生殖障碍的进化。其中一个F1杂合性降低的基因座与普通花园的生长和繁殖适应度指标有很强的相关性,而大陆等位基因的适应度增加。如果这个基因座在两个自然种群中经历了不同的选择,可能会促进它们的生殖隔离。最后,尽管杂交最初在很大程度上减少了F1s的等位基因固定,表明杂种优势可能是由于有害等位基因的掩盖,但种群间生殖隔离的出现可能会削弱F2或高级杂交后代遗传拯救的长期效益。由于托利松是种群间遗传拯救的候选者,如果障碍进化,在不同种群之间的长期基因流动可能导致适应度降低,因此有必要谨慎。
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引用次数: 0
Fine Scale Patterns of Population Structure and Connectivity in Scandinavian Flat Oysters in Scandinavia (Ostrea edulis L.) 斯堪的纳维亚扁平牡蛎(Ostrea edulis L.)种群结构和连通性的精细尺度格局
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-03-31 DOI: 10.1111/eva.70096
Chloé Robert, Homère J. Alves Monteiro, Alan Le Moan, Arnaud Tanguy, Ane T. Laugen, Jakob Hemmer-Hansen, Åsa Strand, Pierre De Wit

Stocks of the European flat oyster, Ostrea edulis, have collapsed due to overfishing, habitat destruction, and pathogen outbreaks across most of their distribution range. Nonetheless, as a result of lower exploitation pressure and the absence of pathogens in the most northern part of the range, a large part of the remaining wild population can be found in relatively high densities in Scandinavia, a region in Northern Europe. However, despite recent studies focusing on flat oyster population structure along the European coast, little is known about the population structure of oysters in the Skagerrak marginal sea in Scandinavia, and how it is related to neighbouring regions. This study, therefore, aimed to investigate the population structure of flat oysters in Scandinavia, with a special emphasis on the Skagerrak. We gathered low-coverage whole-genome sequencing data from oysters in Sweden, Norway, and Denmark, the three countries that border the Skagerrak. Genetic diversity appeared to be homogeneously distributed over the sampled area in the Skagerrak, while samples collected from the east coast of Denmark and from a location with known historical farming activity on the Norwegian West Coast were genetically distinct from Skagerrak samples. A genetic barrier analysis indicated barriers to gene flow in the Baltic Sea transition zone and on the west coast of Norway. Overall, our results suggest that flat oysters from the Swedish Skagerrak coasts form a single panmictic population that is distinct from neighbouring seas, potentially allowing for regional management of stocks and restoration translocations in the area. However, the genetic composition of donor and recipient stocks should be assessed on a case-by-case basis, genetic diversity effects of hatchery practices should be monitored, and biosecurity measures need to be considered prior to any movement of stock.

欧洲平牡蛎(Ostrea edulis)的种群数量由于过度捕捞、栖息地破坏和病原体在其大部分分布范围内的爆发而急剧下降。尽管如此,由于较低的开发压力和在范围的最北部地区没有病原体,在北欧的斯堪的纳维亚地区,可以在密度相对较高的地区找到大部分剩余的野生种群。然而,尽管最近的研究集中在欧洲沿岸的扁平牡蛎种群结构上,但人们对斯堪的纳维亚半岛Skagerrak边缘海的牡蛎种群结构以及它与邻近地区的关系知之甚少。因此,本研究旨在调查斯堪的纳维亚扁平牡蛎的种群结构,特别强调Skagerrak。我们从瑞典、挪威和丹麦这三个与斯卡格拉克河接壤的国家的牡蛎中收集了低覆盖率的全基因组测序数据。遗传多样性似乎均匀分布在Skagerrak的采样区域,而从丹麦东海岸和挪威西海岸已知的历史农业活动地点收集的样本在遗传上与Skagerrak样本不同。遗传屏障分析表明,在波罗的海过渡区和挪威西海岸存在基因流动障碍。总的来说,我们的研究结果表明,来自瑞典斯卡格拉克海岸的扁平牡蛎形成了一个单一的泛生种群,与邻近海域截然不同,这可能允许该地区的种群区域管理和恢复易位。但是,应逐案评估供体和受体种群的遗传组成,应监测孵化场做法的遗传多样性影响,并在种群的任何移动之前考虑生物安全措施。
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引用次数: 0
The Intertidal North-South Split: Oceanographic Features and Life History Shape the Phylogeography of Chiton Acanthochitona rubrolineata 潮间带南北分裂:海洋特征和生活史塑造了棘壳石的系统地理学
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-03-31 DOI: 10.1111/eva.70095
Shaobing Zong, Huijie Liu, Lingjing Xu, Dezhou Yang, Junlong Zhang

The genetic structure and demographic history of marine organisms are shaped by a variety of factors including biological and ecological characteristics, ocean currents, and the palaeogeological effects of sea-level fluctuations. Here we present a comprehensive method combining population genomics, laboratory experiments, and ocean modelling in 13 populations of the chiton Acanthochitona rubrolineata along the coast of China. Based on demographic and population genomic analyses, significant divergence was observed between the Northern and Southern population groups, which are separated by the Yangtze River Estuary. The numerical circulation model simulation showed that gene flow and population connectivity were strongly influenced by ocean currents and the larval dispersal ability of chiton A. rubrolineata. These data thus clearly revealed the presence of two separately evolving lineages in chiton—A. rubrolineata northern and A. rubrolineata southern. Our study highlights that a robust understanding of organisms in the intertidal zone requires a comprehensive consideration of factors that influence gene flow and genetic structure, including the life-history traits, coastal currents, geographic isolation, and habitat suitability. The life history of marine organisms, together with local oceanographic features, could ultimately drive the population divergence and lead to speciation. These findings provide a guideline for future analyses of non-model and potentially threatened species and will aid in the conservation of biodiversity.

海洋生物的遗传结构和人口历史受到多种因素的影响,包括生物和生态特征、洋流和海平面波动的古地质影响。本文采用种群基因组学、实验室实验和海洋模型相结合的方法,对中国沿海的13个石壳种群进行了研究。人口统计学和种群基因组学分析表明,长江口地区的南北方种群存在显著差异。数值环流模式模拟结果表明,海流对石鳖基因流动和种群连通性有较强的影响,并对其幼虫扩散能力有较强的影响。因此,这些数据清楚地揭示了石壳a中存在两个独立进化的谱系。北部的麻麻和南部的麻麻。我们的研究强调,对潮间带生物的全面了解需要综合考虑影响基因流动和遗传结构的因素,包括生活史特征、沿海洋流、地理隔离和栖息地适宜性。海洋生物的生活史,加上当地的海洋学特征,可能最终推动种群分化并导致物种形成。这些发现为今后非模式和潜在濒危物种的分析提供了指导,并有助于生物多样性的保护。
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引用次数: 0
Meeting Report on the Symposium “Evolutionary Applications” at the 3rd Joint Congress on Evolutionary Biology 第三届进化生物学联合代表大会“进化应用”专题讨论会报告
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-03-25 DOI: 10.1111/eva.70082
Hildegard Uecker

The symposium “Evolutionary Applications” took place on June 28, 2024 in the virtual part of the 3rd Joint Congress on Evolutionary Biology. It was contributed to the conference by the European Society for Evolutionary Biology (ESEB). The symposium highlighted research on evolutionary biology applied to address questions and contemporary problems in medicine and public health, conservation biology, and food production and agriculture. Each of the six talks covered a different application and a different organism: domestication of cheese-making fungi, restoration of long-lived bird populations, evolution of herbicide resistance, coral reef conservation, gene drive systems targeting Malaria vectors, and antibiotic resistance evolution in bacteria. By including speakers who are active in a consortium or work in an NGO, the symposium also showed how to make the step from scientific findings to practical application. The symposium furthermore featured a range of scientific methods, ranging from genomic analyses and mathematical modeling to laboratory evolution and field experiments. Speakers from across 15 time zones highlighted the potential of virtual symposia to foster global collaboration in evolutionary biology.

“进化应用”研讨会于2024年6月28日在第三届进化生物学联合大会的虚拟部分举行。它是由欧洲进化生物学学会(ESEB)向会议贡献的。专题讨论会强调了应用于解决医学和公共卫生、保护生物学以及粮食生产和农业方面的问题和当代问题的进化生物学研究。六场演讲中的每一场都涵盖了不同的应用和不同的生物:奶酪制作真菌的驯化,长寿鸟类种群的恢复,除草剂抗性的进化,珊瑚礁保护,针对疟疾载体的基因驱动系统,以及细菌的抗生素抗性进化。通过邀请活跃在财团或在非政府组织工作的发言者,研讨会还展示了如何将科学发现转化为实际应用。此外,研讨会还介绍了一系列科学方法,从基因组分析和数学建模到实验室进化和实地实验。来自15个时区的发言者强调了虚拟专题讨论会在促进进化生物学全球合作方面的潜力。
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引用次数: 0
Balancing Inbreeding and Outbreeding Risks to Inform Translocations Throughout the Range of an Imperiled Darter 平衡近交和远交风险,通知易位在整个范围内的危险飞禽
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-03-23 DOI: 10.1111/eva.70088
Brendan N. Reid, Jordan Hofmeier, Harry Crockett, Ryan Fitzpatrick, Ryan Waters, Sarah W. Fitzpatrick

Restoring connectivity via assisted migration is a useful but currently underused approach for maintaining genetic diversity and preventing extirpations of threatened species. The use of assisted migration as a conservation strategy may be limited by the difficulty of balancing the benefits of reconnecting populations (including reduced inbreeding depression and increased adaptive capacity) with the perceived risk of outbreeding depression, which requires comprehensive knowledge of the landscape of adaptive, neutral, deleterious, and structural variation across a species' range. Using a combination of reduced-representation and whole-genome sequencing, we characterized genomic diversity and differentiation for the Arkansas Darter (Etheostoma cragini) across its range in the Midwestern US. We found strong population structure and large differences in genetic diversity and effective population sizes across drainages. The strength of genetic isolation by river distance differed among drainages, with landscape type surrounding streams and impoundments also contributing to genetic isolation. Despite low effective population sizes in some populations, there was surprisingly little evidence for recent inbreeding (based on the absence of long runs of homozygosity) or for elevated levels of deleterious variation in smaller populations. Considering neutral, adaptive, deleterious, and structural variation allowed us to identify several potential recipient populations that may benefit from translocations and potential donor sites throughout the range. Planning translocation strategies intended for restored connectivity and possible genetic rescue at earlier stages in species decline will likely increase the probability of retaining genetic diversity and population persistence over the long term while minimizing risks associated with translocation.

通过辅助迁移恢复连通性是一种有用的方法,但目前尚未充分利用,以保持遗传多样性和防止濒危物种灭绝。将辅助迁徙作为一种保护策略可能会受到限制,因为很难平衡重新连接种群的好处(包括减少近交抑制和增加适应能力)与远交抑制的感知风险,这需要对物种范围内的适应性、中性、有害和结构变异的景观有全面的了解。使用减少代表性和全基因组测序的组合,我们在美国中西部的阿肯色沙鼠(Etheostoma cragini)的范围内表征了基因组多样性和分化。我们发现不同流域的种群结构较强,遗传多样性和有效种群规模差异较大。不同流域间河流距离对遗传隔离的影响程度不同,河流和水库周围的景观类型对遗传隔离也有影响。尽管一些种群的有效种群规模较小,但令人惊讶的是,几乎没有证据表明最近的近亲繁殖(基于缺乏长期的纯合性)或较小种群中有害变异的水平升高。考虑到中性、适应性、有害和结构变异,我们确定了几个可能受益于易位的潜在受体群体和整个范围内的潜在供体位点。在物种衰退的早期阶段,为恢复连通性和可能的遗传拯救而规划易位策略可能会增加长期保持遗传多样性和种群持久性的可能性,同时将易位相关的风险降至最低。
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引用次数: 0
Genomic Insights Into Inbreeding and Adaptive Divergence of Trout Populations to Inform Genetic Rescue 基因组洞察近交和适应性分化的鳟鱼种群通知遗传救援。
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-03-20 DOI: 10.1111/eva.70090
Donovan A. Bell, Kellie J. Carim, Ryan Kovach, Lisa A. Eby, Craig Barfoot, Sally Painter, Angela Lodmell, Stephen J. Amish, Seth Smith, Leo Rosenthal, Beau Larkin, Philip Ramsey, Andrew R. Whiteley

Genetic rescue, specifically translocation to facilitate gene flow among populations and reduce the effects of inbreeding, is an increasingly used approach in conservation. However, this approach comes with trade-offs, wherein gene flow may reduce fitness when populations have adaptive differentiation (i.e., outbreeding depression). A better understanding of the interaction between isolation, inbreeding, and adaptive divergence in key traits, such as life history traits, will help to inform genetic rescue efforts. Stream-dwelling salmonids, such as the westslope cutthroat trout (Oncorhynchus lewisi; WCT), are well-suited for examining these trade-offs because they are increasingly isolated by habitat degradation, exhibit substantial variation in life history traits among populations, and include many species of conservation concern. However, few genomic studies have examined the potential trade-offs in inbreeding versus outbreeding depression in salmonids. We used > 150,000 SNPs to examine genomic variation and inbreeding coefficients in 565 individuals across 25 WCT populations that differed in their isolation status and demographic histories. Analyses of runs of homozygosity revealed that several isolated WCT populations had “flatlined” having extremely low genetic variation and high inbreeding coefficients. Additionally, we conducted genome scans to identify potential outlier loci that could explain life history differences among 10 isolated populations. Genome scans identified one candidate genomic region that influenced maximum length and age-1 to age-2 growth. However, the limited number of candidate loci suggests that the life history traits examined may be driven by many genes of small effect or phenotypic plasticity. Although adaptive differentiation should be considered, the high inbreeding coefficients in several populations suggest that genetic rescue may benefit the most genetically depauperate WCT populations.

遗传救援,特别是通过易位促进种群间的基因流动和减少近亲繁殖的影响,是一种越来越多地用于保护的方法。然而,这种方法是有代价的,当种群具有适应性分化(即远交抑制)时,基因流动可能会降低适应度。更好地了解隔离、近亲繁殖和关键性状(如生活史性状)的适应性分化之间的相互作用,将有助于为遗传救援工作提供信息。溪栖鲑科,如西坡切喉鳟鱼;WCT)非常适合研究这些权衡,因为它们因栖息地退化而日益孤立,在种群之间表现出生活史特征的巨大差异,并且包括许多受保护的物种。然而,很少有基因组研究检查了鲑鱼近亲繁殖与近亲繁殖抑制之间的潜在权衡。我们使用了150000个snp来检测25个不同隔离状态和人口统计学历史的WCT群体中的565个个体的基因组变异和近交系数。纯合子分析表明,一些分离的WCT群体具有极低的遗传变异和高近交系数的“平坦”。此外,我们进行了基因组扫描,以确定可能解释10个孤立种群之间生活史差异的潜在异常位点。基因组扫描确定了一个候选基因组区域,影响最大长度和年龄1至2岁的生长。然而,候选基因座数量有限,表明所检测的生活史性状可能是由许多影响较小或表型可塑性的基因驱动的。尽管应该考虑适应性分化,但一些种群的高近交系数表明,遗传拯救可能有利于大多数遗传缺失的WCT种群。
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引用次数: 0
Estimation of Inbreeding Depression From Overdominant Loci Using Molecular Markers 利用分子标记估计过显性基因座近交抑制
IF 3.5 2区 生物学 Q1 EVOLUTIONARY BIOLOGY Pub Date : 2025-03-13 DOI: 10.1111/eva.70085
Inés González-Castellano, Pilar Ordás, Armando Caballero

Inbreeding depression is a highly relevant universal phenomenon in population and conservation genetics since it leads to a decline in the fitness of individuals. This phenomenon is due to the homozygous expression of alleles whose effects are hidden in heterozygotes (inbreeding load). The rate of inbreeding depression for quantitative traits can be quantified if the coefficient of inbreeding (F) of individuals is known. This coefficient can be estimated from pedigrees or from the information of molecular markers, such as SNPs, using measures of homozygosity of individual markers or runs of homozygosity (ROH) across the genome. Several studies have investigated the accuracy of different F measures to estimate inbreeding depression, but always assuming that this is only due to recessive or partially recessive deleterious mutations. It is possible, though, that part of the inbreeding depression is due to variants with overdominant gene action (heterozygote advantage). In this study, we carried out computer simulations to assess the impact of overdominance on the estimation of inbreeding depression based on different measures of F. The results indicate that the estimators based on ROH provide the most robust estimates of inbreeding depression when this is due to overdominant loci. The estimators that use measures of homozygosity from individual markers may provide estimates with substantial biases, depending on whether or not low-frequency alleles are discarded in the analyses; but among these SNP-by-SNP measures, those based on the correlation between uniting gametes are generally the most reliable.

近交抑制是种群和保护遗传学中一个高度相关的普遍现象,因为它会导致个体适应性的下降。这种现象是由于等位基因的纯合子表达,其作用隐藏在杂合子(近交负荷)中。如果个体的近交系数(F)已知,就可以量化数量性状的近交抑制率。该系数可以通过谱系或分子标记(如snp)的信息来估计,使用个体标记的纯合性测量或整个基因组的纯合性(ROH)。一些研究调查了不同的F测量来估计近交抑制的准确性,但总是假设这只是由于隐性或部分隐性有害突变。尽管如此,近亲繁殖抑制的部分原因可能是由于具有显性基因作用的变异(杂合子优势)。在本研究中,我们进行了计算机模拟,以评估基于不同f值的超显性对近交衰退估计的影响。结果表明,当这是由于过显性位点时,基于ROH的估计提供了最可靠的近交衰退估计。根据低频等位基因是否在分析中被丢弃,使用单个标记纯合性测量的估计器可能会提供具有重大偏差的估计;但在这些逐个snp的测量中,那些基于统一配子之间相关性的测量通常是最可靠的。
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Evolutionary Applications
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