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Geographic Divergence and the Genomic Basis of Reproductive Diapause in Drosophila triauraria. 果蝇生殖滞育的地理差异及基因组基础。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-02-01 DOI: 10.1111/mec.70251
Takako Fujichika, Yuki Aoyama, Moe Onuma, Masafumi Nozawa, Aya Takahashi

Adjusting reproduction timing to environmental cues is essential for lifetime fitness. In many insects, reproductive diapause shows clinal variation along environmental gradients such as photoperiod and temperature. How such continuous trait variation may be encoded at the molecular level and maintained in the presence of gene flow remains largely elusive. The fruit fly Drosophila triauraria is distributed across a wide latitudinal range of the Japanese archipelago. Northern strains exhibit a strong photoperiodic reproductive diapause in females, whereas southern strains fail to arrest ovarian development even under short-day conditions at low temperatures. These distinct phenotypes and the presumable clinal variation in between provide an ideal opportunity to examine the molecular basis of latitudinal divergence. We first investigated diapause induction in both females and males from previously reported and newly tested strains collected from the regions spanning ~26° N-43° N along the Japanese archipelago. The assessment revealed continuous geographic variation in sensitivity to photoperiod and temperature. We then analysed the whole-genome sequences of 21 strains, including 14 newly sequenced, to identify genomic regions underlying this divergence. In addition to the conventional FST analysis, we applied a "monophyletic window" approach suitable for limited sample sizes. The analysis identified a candidate region containing putative E-box and TER-box sequence motifs of the timeless (tim) gene, which has been previously implicated in diapause regulation in multiple insect species. The quantitative PCR analysis further supported a partial association between the tim expression and the incidence of female diapause. These findings reinforce the growing evidence for a role of circadian clock genes in the adaptive regulation of reproductive diapause and demonstrate the utility of tree-based approaches for detecting genomic regions of geographic divergence.

根据环境因素调整繁殖时间对终生健康至关重要。在许多昆虫中,生殖滞育表现出沿环境梯度(如光周期和温度)的临床变化。这种连续的性状变异是如何在分子水平上被编码并在基因流的存在下维持的,这在很大程度上仍然是难以捉摸的。三auraria果蝇分布在日本群岛的广泛纬度范围内。北方菌株在雌性中表现出强烈的光周期生殖滞育,而南方菌株即使在低温的短日照条件下也不能阻止卵巢发育。这些不同的表型和可能的临床变异之间提供了一个理想的机会来检查分子基础的纬度差异。我们首先从日本列岛~26°N-43°N地区收集的先前报道和新检测的菌株中研究了雌性和雄性的滞育诱导。结果表明,植物对光周期和温度的敏感性存在连续的地理差异。然后,我们分析了21个菌株的全基因组序列,其中包括14个新测序的菌株,以确定这种差异背后的基因组区域。除了传统的FST分析外,我们还应用了适用于有限样本量的“单系窗”方法。该分析确定了一个候选区域,该区域包含永恒(tim)基因的假定E-box和TER-box序列基序,该基因先前与多种昆虫的滞育调节有关。定量PCR分析进一步支持了tim表达与雌性滞育发生率之间的部分关联。这些发现进一步证实了生物钟基因在生殖滞育适应性调节中的作用,并证明了基于树的方法在检测地理差异基因组区域方面的实用性。
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引用次数: 0
Genetic Diversity and Population Structure in Cities Is Not Consistent Among Cosmopolitan Plant Species. 世界性植物在城市的遗传多样性和种群结构不一致。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-02-01 DOI: 10.1111/mec.70261
Ava M Hoffman, Jennifer M Cocciardi, Prothama Manna, Diego F Alvarado-Serrano, Jeannine Cavender-Bares, Peter M Groffman, Sharon J Hall, Sarah E Hobbie, Susannah B Lerman, Josep Padullés Cubino, Diane E Pataki, Tara L E Trammell, Meghan L Avolio

Urbanisation has led to increasing homogenization of plant communities across cities. However, it is unclear whether these patterns extend to cosmopolitan plant species at the genetic level. We examined genome-wide genetic patterns in six widespread plant species (three Poaceae and three Asteraceae) across five cities in the USA (Boston, Baltimore, Minneapolis-St. Paul, Phoenix, and Los Angeles) using reduced-representation sequencing. We assessed genetic structure, differentiation, and patterns of isolation by distance (IBD) and environment (IBE) to determine if species were genetically homogeneous or differentiated by city, percentage of impervious surface, or both. Most species exhibited limited population structure overall, with Poa annua (annual bluegrass), Taraxacum officinale (dandelion), and Cynodon dactylon (Bermuda grass) showing no significant genetic differentiation among cities, a pattern consistent with high gene flow mediated by human activity. Notable exceptions included city-level differences in Erigeron canadensis (horseweed) and Lactuca serriola (prickly lettuce), especially in Phoenix. We also observed low genetic diversity in Digitaria sanguinalis (crabgrass) from Phoenix, suggesting recent founder effects or selection via environmental filtering. Erigeron canadensis, the only native species studied, displayed stronger differentiation by city, along with significant isolation by temperature and distance. Among all species, we found no evidence for population structure by impervious surface. Our findings indicate that widespread population genetic structure patterns of cosmopolitan plants are likely to depend more on species attributes (e.g., self-compatibility) and human-mediated dispersal than on urbanisation per se.

城市化导致了城市植物群落的同质化。然而,目前尚不清楚这些模式是否在遗传水平上延伸到世界性的植物物种。我们研究了美国5个城市(波士顿、巴尔的摩、明尼阿波利斯-圣路易斯市)6种广泛分布的植物物种(3种禾本科和3种菊科)的全基因组遗传模式。Paul, Phoenix和Los Angeles)使用减少表示排序。我们评估了遗传结构、分化和距离隔离模式(IBD)和环境隔离模式(IBE),以确定物种是遗传同质还是城市、不透水表面百分比或两者兼有。大多数物种总体上表现出有限的种群结构,其中蓝草(Poa annua)、蒲公英(Taraxacum officinale)和百慕大草(Cynodon dactylon)在城市间没有明显的遗传分化,这与人类活动介导的高基因流动模式一致。值得注意的例外是,城市之间在Erigeron canadensis(马鞭草)和Lactuca serriola(多刺莴苣)上的差异,尤其是在凤凰城。我们还观察到凤凰地区的马地黄(Digitaria sanguinalis)遗传多样性较低,这可能是最近的创始人效应或通过环境过滤的选择。加拿大灯盏花(Erigeron canadensis)是唯一被研究的本地种,城市分化程度较强,温度和距离隔离程度显著。在所有物种中,我们没有发现不透水表面对种群结构的影响。我们的研究结果表明,世界性植物的广泛种群遗传结构模式可能更多地取决于物种属性(如自相容性)和人类介导的扩散,而不是城市化本身。
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引用次数: 0
Two Contrasting Demographic Processes Shape the Divergence and Evolution of the Widespread Arid Zone Specialist, Petrogale lateralis. 两种截然不同的人口统计过程塑造了广泛的干旱区专家Petrogale lateral的分化和进化。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-02-01 DOI: 10.1111/mec.70235
Sally Potter, Craig Moritz, Kym Ottewell, Emily Roycroft, Anna J MacDonald, Margaret Byrne, Steven J B Cooper, David J Pearson, Mark D B Eldridge

Organisms living in arid environments are predicted to be at increased risk of extinction under climatic and anthropogenic change. Response to past climate change can provide some insights into these risks; however, our understanding of the diversification and evolutionary history of many arid-adapted species is still limited, particularly in Australia. Here, we evaluate the demographic and evolutionary history of a widespread Australian marsupial, the black-footed rock-wallaby (Petrogale lateralis), with a highly fragmented contemporary distribution across Australia's arid biome and offshore islands. Combining genomic data from historical and modern samples, we evaluate the divergence history of the five P. lateralis subspecies. Our results show that the species has experienced a Pleistocene-age demographic expansion across the Australian arid biome, with subsequent geographic fragmentation of populations and subspecies. We find negligible gene flow between most extant populations/subspecies, yet low divergence between populations of P. l. lateralis and currently recognised subspecies. Individuals on islands have extremely low genetic diversity and high inbreeding coefficients, in contrast to naturally fragmented mainland populations, suggesting a stronger bottleneck experienced on islands. Our results indicate connectivity of populations within the past ~160-640 kya despite their current disjunct distributions, providing important context for conservation management and potential genetic rescue. However, given the large ecological gradient and chromosomal variation within this species, assessment of ecological differences and risks of outbreeding depression will be important before decisions to mix across geographically distant populations and/or subspecies. This study demonstrates how museum genomics improves our ability to resolve complex evolutionary histories and guide conservation.

据预测,在气候和人为变化的影响下,生活在干旱环境中的生物灭绝的风险将增加。对过去气候变化的反应可以对这些风险提供一些见解;然而,我们对许多适应干旱的物种的多样性和进化历史的了解仍然有限,特别是在澳大利亚。在这里,我们评估了一种广泛分布的澳大利亚有袋动物——黑足岩袋鼠(Petrogale lateralis)的人口统计学和进化史,它在澳大利亚干旱的生物群落和近海岛屿上的当代分布非常分散。结合历史和现代样本的基因组数据,我们评估了五个侧边种亚种的分化历史。我们的研究结果表明,该物种在澳大利亚干旱生物群系中经历了更新世时期的人口扩张,随后出现了种群和亚种的地理碎片化。我们发现大多数现存种群/亚种之间的基因流动可以忽略不计,但侧边扁扁树种群与目前公认的亚种之间的差异很低。与自然分裂的大陆种群相比,岛屿上的个体遗传多样性极低,近交系数高,表明岛屿上经历了更强的瓶颈。我们的研究结果表明,尽管种群分布不连贯,但过去160-640 kya的种群具有连通性,为保护管理和潜在的遗传救援提供了重要依据。然而,考虑到该物种内巨大的生态梯度和染色体变异,在决定跨地理上遥远的种群和/或亚种混合之前,评估生态差异和近亲繁殖衰退的风险将是重要的。这项研究展示了博物馆基因组学如何提高我们解决复杂进化历史和指导保护的能力。
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引用次数: 0
Glacial Legacies-How Refugial Dynamics Shaped the Evolution of the Alpine Endemic Bush-Cricket Anonconotus italoaustriacus. 冰川遗产-如何避难动力学塑造了高山特有灌木蟋蟀的进化。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-02-01 DOI: 10.1111/mec.70256
Philipp Kirschner, Petra Kranebitter

Mountain ranges like the European Alps harbour large endemic biodiversity shaped by Pleistocene climatic oscillations. The flightless bush-cricket Anonconotus italoaustriacus, endemic to the Southern Limestone Alps (SLA) and the eastern Central Alps (CA), provides an ideal model to study the evolutionary and refugial dynamics of endemic alpine arthropods. Using genomic SNP data, we employed phylogenetic analyses, Bayesian clustering, and demographic modelling to investigate the species' evolutionary history and its refugial dynamics. Our results support a scenario of survival in multiple peripheral refugia during the Last Glacial Period (LGP; 115-11.7 ka), with populations in the southern SLA and eastern CA exhibiting the highest private allelic richness. Postglacial recolonization of interior alpine regions occurred exclusively from refugia on the southeastern margin of the SLA, most likely facilitated by open habitat corridors along transversal valleys. In contrast, populations in the southern SLA exhibited long-term isolation and distributional stasis, emphasising the importance of small, stable refugia in preserving genetic diversity. These findings highlight the importance of integrating evolutionary history into conservation strategies, particularly for alpine endemics with fragmented distributions. Protecting both long-term stable refugia and dynamic evolutionary hotspots is critical for the conservation of A. italoaustriacus and other high-altitude arthropods in the face of ongoing environmental change.

像欧洲阿尔卑斯山这样的山脉拥有由更新世气候振荡形成的大量地方性生物多样性。南石灰岩阿尔卑斯山脉(SLA)和中东部阿尔卑斯山脉(CA)特有的无飞灌木蟋蟀Anonconotus italoaustracus为研究高山特有节肢动物的进化和避难动力学提供了理想的模型。利用基因组SNP数据,我们采用系统发育分析、贝叶斯聚类和人口统计学模型来研究该物种的进化史及其避难动态。我们的研究结果支持了末次冰期(LGP; 115-11.7 ka)多个外围避难所的生存情景,其中南部和东部的种群表现出最高的私人等位基因丰富度。冰期后,内陆高寒地区的再定居只发生在西南缘的避难所,最有可能是由沿着横向山谷的开放栖息地走廊促进的。相比之下,南苏丹的种群表现出长期的隔离和分布停滞,强调了小而稳定的避难所在保护遗传多样性方面的重要性。这些发现强调了将进化历史纳入保护策略的重要性,特别是对于分布分散的高山特有物种。同时保护长期稳定的栖息地和动态进化热点,对于意大利拟南蝽和其他高海拔节肢动物在面对持续的环境变化时的保护至关重要。
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引用次数: 0
Correction to "Comparative Genomic Analysis of Co-Occurring Hybrid Zones of House Mouse Parasites Pneumocystis murina and Syphacia obvelata Using Genome Polarisation". 更正“利用基因组极化对家鼠寄生虫鼠肺囊虫和扁梅毒共发生杂交区进行比较基因组分析”。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-02-01 DOI: 10.1111/mec.70258
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引用次数: 0
The Impact of Pleistocene Glacial Cycles on the Evolutionary Diversification of the Arctic-Alpine Silene acaulis Species Complex 更新世冰期旋回对北极-高寒冰原物种复合体进化多样化的影响。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-01-23 DOI: 10.1111/mec.70254
Oliver Reutimann, Gwyneth Halstead-Nussloch, Andreas Tribsch, Pablo Tejero Ibarra, Niklaus Zemp, Alex Widmer, Martin C. Fischer

Arctic-alpine species are highly sensitive to long-term temperature changes and associated glacial cycles due to their occurrence in cold environments to which they are adapted and spatially restricted. Unravelling their evolutionary responses to past climatic fluctuations can provide new insights into their diversification. In this study, we investigated the evolutionary history of the Silene acaulis species complex and how it was shaped by past glacial cycles. We assembled the first high-quality reference genome for S. acaulis and analysed reduced representation sequencing data from 955 individuals spanning 132 populations across the Holarctic distribution range of these arctic-alpine cushion plants. We identified five evolutionary lineages and assessed their phylogeographical structure in relation to current subspecies classifications, refugia, and historic migration patterns. Phylogenetic dating revealed that lineage divergence largely coincided with repeated phases of glacial cooling over the last two million years and was driven by isolation in glacial refugia. Secondary contact in glacial refugia or during interglacial expansions promoted hybridization and further shaped the distribution of genetic diversity across the species complex. Adaptive divergence amongst sympatric genetic groups in the European Alps highlights the contribution of niche specialisation to intraspecific divergence, with evidence for ecotype differentiation in response to a combination of edaphic and climatic factors. The S. acaulis species complex has an intricate evolutionary history, shaped by glacial cycles in the Late Pleistocene that have driven lineage diversification, secondary contact and ecotype formation. Our study underscores the significance of glacial cycles in shaping genetic diversity in arctic-alpine plant species and improves our understanding of how arctic-alpine species have responded to past climate fluctuations.

北极-高寒物种对长期温度变化和相关的冰期循环高度敏感,因为它们生活在寒冷的环境中,适应这些环境并受到空间限制。解开它们对过去气候波动的进化反应可以为它们的多样化提供新的见解。在这项研究中,我们研究了青莲物种复合体的进化史,以及它是如何被过去的冰川旋回塑造的。我们组装了第一个高质量的参考基因组,并分析了这些北极-高山缓冲植物在全北极分布范围内132个种群的955个个体的减少代表性测序数据。我们确定了五个进化谱系,并评估了它们与当前亚种分类、避难所和历史迁移模式相关的系统地理结构。系统发育年代测定显示,谱系分化在很大程度上与过去200万年冰川冷却的重复阶段相吻合,并且是由冰川避难所的隔离所驱动的。在冰期避难所或间冰期扩张期间的二次接触促进了杂交,并进一步塑造了物种复合体的遗传多样性分布。欧洲阿尔卑斯同域遗传群体的适应性分化突出了生态位特化对种内分化的贡献,并提供了生态型分化响应于土壤和气候因素组合的证据。在晚更新世冰川旋回的作用下,该物种群形成了复杂的进化史,推动了谱系多样化、二次接触和生态型的形成。我们的研究强调了冰川循环在形成北极高山植物物种遗传多样性方面的重要性,并提高了我们对北极高山物种如何响应过去气候波动的理解。
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引用次数: 0
Demographic History Inferred From an Inversion-Rich Spruce Bark Beetle Genome 从富反转的云杉树皮甲虫基因组推断的人口历史。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-01-22 DOI: 10.1111/mec.70250
Piotr Zieliński, Julia Morales-García, Martin Schebeck, Mihai Leonard Duduman, Krystyna Nadachowska-Brzyska

The demographic history of species inferred from whole-genome data provides quantitative insights into key biological parameters such as population size changes and divergence times. Reliable estimates often require data that have not been affected by selection. Extensive research, however, indicates that many species harbor multiple polymorphic chromosomal inversions, which often evolve under different selective pressures. Consequently, inversions can influence genome-wide patterns of variation and subsequent evolutionary inferences. In this study, we used genome-wide data from over 300 spruce bark beetle (Ips typographus) individuals from 23 populations across Europe to reconstruct their demographic history and to investigate the impact of a complex polymorphic inversion landscape (covering approximately 28% of the beetle genome) on demographic inference. We used two complementary methods, Pairwise Sequential Markovian Coalescent (PSMC) and Site Frequency Spectrum (SFS)-based modelling, and revealed a Late Pleistocene divergence (~79 kya) between populations from the southern and northern parts of the species' European range, and a long-term effective population size of ~250,000. The southern group underwent significant population expansion after this divergence event, whereas the northern group expanded during the Holocene (~7 kya). Recent population size estimates suggest that the southern group is twice as large as the northern group. Neglecting the presence of chromosomal inversions did not significantly affect the model selection procedure and resulted in relatively small biases in the estimated demographic parameters. This study provides information on the historical population dynamics of the spruce bark beetle and improves our understanding of the influence of a complex genomic architecture on the inference of evolutionary history.

从全基因组数据推断的物种的人口统计学历史提供了对关键生物学参数(如种群规模变化和分化时间)的定量见解。可靠的估计通常需要不受选择影响的数据。然而,广泛的研究表明,许多物种具有多个多态染色体倒位,这些染色体倒位通常在不同的选择压力下进化。因此,倒置可以影响全基因组的变异模式和随后的进化推断。在这项研究中,我们使用了来自欧洲23个种群的300多个云杉树皮甲虫(Ips typographus)个体的全基因组数据来重建它们的人口统计历史,并研究了一个复杂的多态性反转景观(覆盖了大约28%的甲虫基因组)对人口统计推断的影响。利用PSMC和SFS两种互补的建模方法,揭示了该物种在欧洲分布范围南北部种群之间的晚更新世差异(~79 kya),长期有效种群规模约为25万。南方类群在这次分化事件后经历了显著的种群扩张,而北方类群则在全新世(~ 7kya)进行了种群扩张。最近的人口规模估计表明,南部种群是北部种群的两倍。忽略染色体倒位的存在并没有显著影响模型选择过程,并且在估计的人口统计学参数中导致相对较小的偏差。本研究提供了云杉树皮甲虫历史种群动态的信息,提高了我们对复杂基因组结构对进化史推断的影响的理解。
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引用次数: 0
Shared and Unique Patterns of Genomic Differentiation and Introgression Between Japanese Stickleback Species Across Three Sympatric Sites 日本棘鱼物种在三个同域点间的基因组分化和渐渗模式的共享和独特。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-01-21 DOI: 10.1111/mec.70249
Genta Okude, Yo Y. Yamasaki, Takuya K. Hosoki, Hiyu Kanbe, Ryo Kakioka, Atsushi J. Nagano, Manabu Kume, Jun Kitano

Hybridization and introgression frequently occur even between distantly related species. A central question in speciation research is which genomic regions act as barriers to gene flow and how genome-wide differentiation persists despite hybridization between species. Ecological divergence is well known to promote genomic differentiation, especially during the early stages of speciation. However, the extent to which ecological divergence contributes to genomic divergence and the restriction of gene flow between more strongly isolated species, such as those exhibiting intrinsic hybrid incompatibilities, remains relatively unclear. One promising approach is to compare genomic differentiation and introgression patterns between sympatric sites of ecologically divergent distantly related species and those of ecologically similar species. Here, we identified a new sympatric site of threespine stickleback (Gasterosteus aculeatus) and Japan Sea stickleback (G. nipponicus) in the Okinebe River, Hokkaido, Japan. In this habitat, these two species differ in migratory life histories: G. nipponicus is anadromous (sea-run migratory), whereas G. aculeatus is resident. This contrasts with the other two previously studied sympatric sites, where both species are anadromous. We found that genomic differentiation in the Okinebe pair is maintained at high levels despite limited spatial isolation. Furthermore, the Okinebe pair had more genomic regions with high differentiation and fewer regions of introgression than the other sympatric pairs. These findings suggest that migratory differences may be able to contribute to the restriction of gene flow even between species with strong reproductive isolation. To better understand the role of ecological divergence in speciation, broader comparative studies across multiple sympatric species pairs with varying degrees of ecological differentiation and reproductive isolation are needed.

甚至在亲缘关系较远的物种之间也经常发生杂交和渐渗。物种形成研究的一个核心问题是,哪些基因组区域是基因流动的障碍,以及尽管物种之间存在杂交,全基因组的分化如何持续存在。众所周知,生态分化促进基因组分化,特别是在物种形成的早期阶段。然而,生态差异在多大程度上促进了基因组差异,以及在更强的隔离物种(如那些表现出内在杂交不相容的物种)之间基因流动的限制,仍然相对不清楚。一种很有前景的方法是比较生态上不同的远亲物种和生态上相似的物种的同域位置之间的基因组分化和基因渗入模式。在日本北海道的Okinebe河,我们发现了一个新的三刺棘鱼(Gasterosteus aculeatus)和日本海棘鱼(G. nipponicus)的共栖点。在这一生境中,这两种物种的迁徙生活史不同:nipponicus是溯河迁徙(海上迁徙),而acleatus是常驻。这与之前研究的另外两个同域地点形成对比,这两个物种都是溯河产卵的。我们发现,尽管空间隔离有限,但Okinebe对的基因组分化保持在高水平。此外,Okinebe对具有更多的高分化区域和更少的基因渗进区域。这些发现表明,迁徙差异可能有助于限制基因流动,甚至在具有强烈生殖隔离的物种之间。为了更好地理解生态分化在物种形成中的作用,需要对具有不同程度生态分化和生殖隔离的多个同域物种对进行更广泛的比较研究。
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引用次数: 0
Genomic Architecture of Inbreeding Depression Associated With Hatching Failure in an Endangered Parrot 濒危鹦鹉近亲繁殖抑制与孵化失败相关的基因组结构。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-01-21 DOI: 10.1111/mec.70252
Yasmin Foster, Stefanie Grosser, Brodie J. Foster, Nicolas Dussex, Aimee Stubbs, Ludovic Dutoit, Theo Atkinson, Fiona Robertson, Ken G. Dodds, Rudiger Brauning, Jeanne M. E. Jacobs, John C. McEwan, Bruce C. Robertson

Conservation management of endangered species increasingly relies on genomic approaches to understand how long-term small population sizes affect the fitness of extant individuals. However, despite the growing investment in genomic resources by conservation programmes, the impact that sequencing methods have on the ability to detect inbreeding-related phenomena has been largely overlooked. Here, we compare the use of whole-genome and reduced-representation sequencing approaches in 148 individuals of the critically endangered parrot, the kākāpō (Strigops habroptilus), to assess inbreeding and its effects on female reproductive success. We explore how sequencing choice influences the identification of long stretches of homozygosity across the genome (runs of homozygosity, ROH), and compare the conservation implications of the results produced by each method. Both whole-genome and reduced-representation sequencing approaches provided comparable estimates of genome-wide inbreeding (FROH) and revealed consistent effects on egg hatching success, suggesting that reduced-representation sequencing is capable of detecting inbreeding depression in wild populations under certain conditions. Whole-genome sequencing enabled chromosome-level inbreeding analyses, which revealed no strong evidence of chromosome-specific effects beyond the genome-wide signal. These results suggest that inbreeding depression in kākāpō reflects small effects across many chromosomes rather than strong effects on only a few, and that the primary benefit of whole-genome sequencing lies in improving the precision of genome-wide inbreeding estimates rather than identifying chromosome-specific effects. Our findings highlight the distinct benefits of each sequencing approach in conservation, particularly within the context of resource limitations.

濒危物种的保护管理越来越依赖于基因组方法来了解长期的小种群规模如何影响现存个体的适应性。然而,尽管保护计划对基因组资源的投资不断增加,但测序方法对检测近亲繁殖相关现象的能力的影响在很大程度上被忽视了。在这里,我们比较了148只极度濒危鹦鹉kākāpō (Strigops habroptilus)的全基因组测序和减少代表性测序方法的使用,以评估近亲繁殖及其对雌性繁殖成功的影响。我们探讨了测序选择如何影响整个基因组长段纯合子的鉴定(纯合子序列,ROH),并比较了每种方法产生的结果的保护意义。全基因组测序和减少代表性测序方法都提供了可比较的全基因组近交(FROH)估计,并揭示了对蛋孵化成功的一致影响,这表明减少代表性测序能够在特定条件下检测野生种群的近交抑制。全基因组测序实现了染色体水平的近交分析,结果显示,除了全基因组信号之外,没有强有力的证据表明存在染色体特异性效应。这些结果表明,kākāpō的近交抑制反映了对许多染色体的小影响,而不是对少数染色体的强烈影响,并且全基因组测序的主要好处在于提高全基因组近交估计的精度,而不是识别染色体特异性影响。我们的研究结果强调了每种测序方法在保护方面的独特优势,特别是在资源有限的情况下。
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引用次数: 0
A Beginner's Guide to Structural Variants in Eco-Evolutionary Population Genomics 生态进化种群基因组学结构变异入门指南。
IF 3.9 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2026-01-21 DOI: 10.1111/mec.70216
Katarina C. Stuart, Rebekah A. Oomen, Anna Tigano, Maren Wellenreuther, Jana Wold, David L. Field, Claire Mérot

Whole-genome sequencing (WGS) has greatly expanded researchers' ability to study structural variants (SVs), that is, the variation in the presence, number, orientation or position of a DNA sequence. This has paved the way to study the eco-evolutionary dynamics of SVs across the tree of life and within a population genomics framework. In this review, we provide the necessary fundamentals to help researchers generate and analyse population-level SV data. We discuss the unique properties of different SV groups and how these fundamental differences interact with important biological and evolutionary processes using both empirical results and theory. This includes discussion of unresolved issues around SVs, such as technical difficulties in identification, accounting for diversity and evaluating functional effects. We explicitly integrate into this discussion transposable elements, which are an important component of SVs often identified in population-level variant data. Finally, we focus on the practical side of SV analysis, offering a framework for SV identification and data analysis. In particular, we examine the heterogeneous nature of SV properties (type, length, sequence identity) that should be considered when studying them in ecology and evolution. This review aims to provide resources and guidelines to help researchers navigate the complexities of a relatively new field of eco-evolutionary genomics research.

全基因组测序(WGS)极大地扩展了研究人员研究结构变异(SVs)的能力,即DNA序列的存在、数量、取向或位置的变化。这为研究sv在整个生命树和种群基因组学框架内的生态进化动力学铺平了道路。在这篇综述中,我们提供了必要的基础,以帮助研究人员生成和分析人口水平的SV数据。我们讨论了不同SV群体的独特属性,以及这些基本差异如何与重要的生物和进化过程相互作用,使用经验结果和理论。这包括围绕SVs尚未解决的问题的讨论,例如识别、解释多样性和评估功能影响方面的技术困难。我们明确地将转座元素整合到这个讨论中,这是sv的一个重要组成部分,通常在种群水平的变异数据中被识别出来。最后,我们将重点放在SV分析的实践方面,为SV识别和数据分析提供了一个框架。特别是,我们研究了在生态学和进化中研究SV属性时应考虑的异质性(类型,长度,序列同一性)。这篇综述的目的是提供资源和指导,以帮助研究人员导航生态进化基因组学研究的一个相对较新的领域的复杂性。
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Molecular Ecology
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