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A Macrogenetic Analysis of Isolation Mechanisms Shaping Genetic Divergence in Mammals. 哺乳动物遗传分化形成机制的宏观遗传学分析。
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-21 DOI: 10.1093/jhered/esag003
Daniel Anthony Hancock, Patrick Meirmans

Understanding the processes that shape spatial genetic differentiation is essential for understanding how populations adapt to environmental change. By evaluating the influence of these processes, we can gain insights into evolutionary dynamics and the potential for species to respond to shifting landscapes. Three well-accepted processes that create spatial patterns in genetic variation are isolation-by-distance (IBD), where individuals are more genetically similar the closer they are geographically; isolation-by-environment (IBE), where gene flow is reduced due to selection against migrants in unsuitable ecological conditions; and isolation-by-resistance (IBR), where landscape features limit dispersal. We conducted a macrogenetic meta-analysis of single-nucleotide-polymorphism data to identify patterns shaping spatial genetic differentiation in 40 mammalian datasets globally. For each species, we built a species-distribution model and combined it with the global Human Footprint layer to create a composite resistance surface, revealing that habitat suitability and anthropogenic impact contribute roughly equally to resistance. Model selection tests found IBR was the mechanism most frequently retained in the best models and had the highest variable importance. IBD and IBE alone had little effect but were often selected alongside IBR, suggesting they may have secondary, context-dependent effects. However, the probability of finding IBD in the best model of divergence significantly increased as the number of populations sampled increased. Similarly, the probability of finding IBE increased with the spatial scale of the study. Our findings suggest that resistance is pervasive in shaping genetic variation in mammals worldwide, but that study design affects our ability to detect the presence of IBD and IBE.

了解形成空间遗传分化的过程对于理解种群如何适应环境变化至关重要。通过评估这些过程的影响,我们可以深入了解进化动力学和物种对不断变化的景观做出反应的潜力。形成遗传变异空间格局的三个广为接受的过程是:距离隔离(IBD),即地理位置越近的个体在遗传上越相似;环境隔离(IBE),由于在不适宜的生态条件下对移民的选择而减少基因流动;以及通过抵抗隔离(IBR),在那里,景观特征限制了扩散。我们对全球40个哺乳动物数据集的单核苷酸多态性数据进行了大遗传荟萃分析,以确定形成空间遗传分化的模式。对于每个物种,我们建立了物种分布模型,并将其与全球人类足迹层相结合,创建了一个复合阻力面,揭示了栖息地适宜性和人为影响对阻力的贡献大致相等。模型选择测试发现,IBR是最佳模型中最常保留的机制,具有最高的变量重要性。单独IBD和IBE几乎没有影响,但经常与IBR一起选择,这表明它们可能具有次要的,依赖于环境的影响。然而,随着样本数量的增加,在最佳分化模型中发现IBD的概率显著增加。同样,发现IBE的可能性随着研究的空间尺度而增加。我们的研究结果表明,耐药性在全世界哺乳动物的遗传变异中普遍存在,但这种研究设计影响了我们检测IBD和IBE存在的能力。
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引用次数: 0
Triploidy in a pair of hybridizing salamanders at the far end of the speciation continuum. 在物种形成连续体的远端一对杂交蝾螈的三倍体。
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-19 DOI: 10.1093/jhered/esag006
Jan W Arntzen, Evan McCartney-Melstad, Spartak N Litvinchuk, Ben Wielstra

Ecological and genetic interactions of species at the far end of the speciation continuum can often be studied in sympatry. Triturus cristatus (C) and T. marmoratus (M) are two deeply differentiated yet hybridizing salamander species that engage in a mosaic distribution over a wide zone of range overlap in the west of France. Interspecies hybrids are easy to distinguish from both parentals and occur at ca. 3% of the total breeding population. Most hybrids are thought to be F1 diploids (CM). We aim to identify triploid F1 hybrids with single nucleotide polymorphism (SNP) data and determine their frequency. Special attention to the genus Triturus is warranted because triploidy might in principle constitute an escape route to the enigmatic chromosome-1 syndrome that constitutes a long-term 50% genetic load. Species-specific signals for a panel of 30 SNPs, analysed with metric multidimensional scaling, suggest that triploid frequency is one out of 26 (3.8%), although a frequence of 18% was found in a larger sampling (N=100) that paid particular attention to aberrant hybrid phenotypes. Triploids with a CMM genetic configuration appear more frequent than the CCM counterpart. The triploid status could be confirmed for two CMM females, either by target capture or cellular morphometric data. One triploid individual relocated in the field showed a hybrid phenotype leaning towards T. marmoratus, an exceptional life span (17+ yrs), length (187 mm) and the frequent skipping of annual breeding opportunities. Future research on the T. cristatus - T. marmoratus system should consider the different classes of interspecies hybrids.

在物种形成连续体的远端,物种之间的生态和遗传相互作用通常可以在同栖中进行研究。Triturus cristatus (C)和T. marmoratus (M)是两个高度分化但杂交的蝾螈物种,它们在法国西部广泛的范围重叠区域内从事马赛克分布。种间杂交种很容易从两个亲本中区分出来,约占繁殖种群总数的3%。大多数杂种被认为是F1二倍体(CM)。我们的目的是鉴定具有单核苷酸多态性(SNP)数据的三倍体F1杂种,并确定其频率。对三倍体的特别关注是有必要的,因为三倍体可能在原则上构成了一条逃避神秘的1号染色体综合征的途径,这种综合征构成了长期50%的遗传负荷。用度量多维尺度分析了30个snp的物种特异性信号,表明三倍体频率为26分之一(3.8%),尽管在更大的样本(N=100)中发现了18%的频率,这些样本特别关注异常杂交表型。具有CMM遗传构型的三倍体比具有CCM基因构型的三倍体出现的频率更高。通过靶捕获或细胞形态测量数据,证实了两只CMM雌性的三倍体状态。在野外重新安置的一个三倍体个体表现出倾向于marmoratus的杂交表型,异常的寿命(17+年),长度(187 mm),并且经常跳过每年的繁殖机会。今后的研究应考虑不同种类的种间杂种。
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引用次数: 0
'The genome assemblies of the Tui chub, Siphateles bicolor, and Arroyo Chub, Gila orcuttii'. “Tui鱼,Siphateles bicolor,和Arroyo鱼,Gila或cutii的基因组组装”。
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-16 DOI: 10.1093/jhered/esag002
H K Baker, C Y Payne, M Escalona, J Rodzen, S Parmenter, R M Barabe, C Ingel, M P A Marimuthu, O Nguyen, N Chumchim, E Beraut, S Sacco, W Seligmann, C W Fairbairn, R D Cooper, C Miller, E Toffelmier, J C Garza, H B Shaffer, D J Rennison, J B Shurin

We present genome assemblies for two cyprinoid fishes, the tui chub (Siphateles bicolor) and the arroyo chub (Gila orcuttii). These fishes are ecologically important representatives of native fish assemblages in the western United States and are both species of conservation concern. The two species hybridize where introductions bring them into contact, with potentially important ecological and evolutionary implications that have not yet been thoroughly examined from a genomic perspective. We present de novo assemblies for both species, representing the first scaffold-level genomes within their respective genera, which were developed as part of the California Conservation Genomics Project (CCGP) using Pacific Biosciences HiFi and Omni-C data. Our tui chub assembly consists of 258 scaffolds spanning 1 148 084 093 base pairs, has a scaffold N50 of 45.9 Mb, a contig N50 of 23.7 Mb, and a BUSCO completeness score of 98.1%. Our arroyo chub assembly consists of 179 scaffolds spanning 1 263 410 250 base pairs, has a scaffold N50 of 50.5 Mb, a contig N50 of 13.1 Mb, and a BUSCO completeness score of 97.8%. A comparative analysis of the two species revealed relatively conserved genomes, with the exception of two inversions at chromosome 20. We annotated a total of 34 090 genes with a BUSCO completeness score of 98.1% for the tui chub, and 28 193 genes with a score of 97.4% for the arroyo chub. These assemblies will be valuable resources for characterizing the species' phylogeographic histories and delineating the role of hybridization in their evolution.

我们介绍了两种鲤科鱼类的基因组组装,tui chub (Siphateles bicolor)和arroyo chub (Gila orcuttii)。这些鱼在生态学上是美国西部本地鱼类群落的重要代表,并且都是值得保护的物种。这两个物种在相互接触的地方进行杂交,这可能具有重要的生态和进化意义,但尚未从基因组的角度进行彻底的研究。我们展示了这两个物种的从头组装,代表了它们各自属中的第一个支架水平基因组,这些基因组是作为加州保护基因组计划(CCGP)的一部分开发的,使用太平洋生物科学公司的HiFi和Omni-C数据。我们的tui chub组件由258个支架组成,跨越1 148 084 093个碱基对,支架N50为45.9 Mb, contig N50为23.7 Mb, BUSCO完整性评分为98.1%。我们的arroyo chub组装由179个支架组成,跨越1 263 410 250个碱基对,支架N50为50.5 Mb, contig N50为13.1 Mb, BUSCO完整性评分为97.8%。对这两个物种的比较分析显示,除了20号染色体上的两个倒位外,它们的基因组相对保守。我们一共注释了34 090个基因,tui俱乐部的BUSCO完整性评分为98.1%,而arroyo俱乐部的28 193个基因的BUSCO完整性评分为97.4%。这些组合将是描述物种的系统地理历史和描述杂交在其进化中的作用的宝贵资源。
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引用次数: 0
Bycatch in a bottle: what taxa are recoverable from metabarcoding DNA in historical invertebrate collection preservative fluid? 瓶中副渔获物:从历史无脊椎动物收集保存液中的元条形码DNA中可恢复哪些分类群?
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-12 DOI: 10.1093/jhered/esag001
Ajith Seresinghe, David Herbst, Jen Quick-Cleveland, Severyn Korneyev, Benjamin K Maples, Eva Sofia Horna Lowell, Malia Mosser, Robert N Fisher, Eric Palkovacs, Daniel Gluesenkamp, Rachel S Meyer

Natural history museum collections are invaluable repositories of biodiversity, offering insights into life on Earth. Genomic approaches provide powerful tools to characterize biodiversity in these collections. However using these collections for genomics without damaging specimens is a challenge. Here, we develop and test non-destructive DNA metabarcoding methods to capture biodiversity from the preservative fluids of archived insect collections ('Bycatch'). We optimized workflows for extracting and amplifying the partial CO1 locus (CO1) and fungal ITS1 locus (FITS) from ethanol-based preservative fluids, validating ethanol preparation methods, comparing DNA extraction kits, and refining PCR protocols. Our results demonstrate that from museum collections with low DNA yields, CO1 and FITS loci can often be recovered from preservative fluids, and we present detailed methodology and workflows. We test metabarcoding success to recover taxa in several museum collections ranging in age and storage condition. This is to support the State of California's effort to catalog and sequence all insects and fungi, building baselines of California biodiversity with help from museum collections. And lastly we investigate the complementarity of metabarcoding water versus ethanol and morphological identifications aimed to capture benthic macroinvertebrate biodiversity in streams. Our findings highlight that DNA metabarcoding of the preservative fluid is a non-destructive tool for capturing biodiversity in historical specimens, but there are limitations on the overlaps between DNA results and physical contents, where morphological identification still reigns in taxon counts, but metabarcoding sometimes provides more taxonomic resolution, and can be used to track DNA from other organisms beyond the directly surveyed specimens.

自然历史博物馆的藏品是生物多样性的宝贵宝库,提供了对地球生命的见解。基因组学方法为描述这些标本的生物多样性提供了强有力的工具。然而,在不损坏标本的情况下,将这些标本用于基因组学是一个挑战。在这里,我们开发并测试了非破坏性DNA元条形码方法,以从存档昆虫收藏的保存液中捕获生物多样性(“副渔获物”)。我们优化了从乙醇基保存液中提取和扩增部分CO1位点(CO1)和真菌ITS1位点(FITS)的工作流程,验证了乙醇制备方法,比较了DNA提取试剂盒,并完善了PCR方案。我们的研究结果表明,从DNA产量低的博物馆藏品中,CO1和FITS基因座通常可以从防腐剂液中恢复,我们提出了详细的方法和工作流程。我们测试了元条形码成功地恢复了几个博物馆馆藏中不同年龄和储存条件的分类群。这是为了支持加利福尼亚州对所有昆虫和真菌进行编目和排序的努力,在博物馆藏品的帮助下建立加州生物多样性的基线。最后,我们研究了水与乙醇的元条形码的互补性和形态学鉴定,旨在捕捉溪流中底栖大型无脊椎动物的生物多样性。我们的研究结果强调,保存液的DNA元条形码是捕获历史标本中生物多样性的一种非破坏性工具,但DNA结果与物理内容之间的重叠存在局限性,在分类单元计数中形态学鉴定仍然占主导地位,但元条形码有时提供更多的分类分辨率,并可用于跟踪直接调查标本以外的其他生物的DNA。
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引用次数: 0
A chromosome-level genome of the lethal tapeworm Sparganum proliferum, with candidate genomic safe harbours for functional genetics. 致命绦虫增殖丝粒绦虫的染色体水平基因组,功能遗传学候选基因组安全港。
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-05 DOI: 10.1093/jhered/esaf104
Atsushi Hikima, Simo Sun, Tetsuya Okino, Kensei Kinoshita, Akemi Yoshida, Yasunobu Maeda, Kenji Ishiwata, Hirotaka Kanuka, Taisei Kikuchi

Sparganum proliferum is an enigmatic, highly proliferative cestode that causes fatal sparganosis. We present a 681 Mb chromosome-level genome assembled from Oxford Nanopore, PacBio HiFi, Illumina, and Hi-C data, yielding nine chromosome-length scaffolds consistent with 2n = 18. The assembly exhibits strong intra-chromosomal Hi-C contact signals and a repeat content of 55.8%, dominated by LINEs. We annotated 29 231 protein-coding genes, including 6316 transposable element-associated loci, with BUSCO completeness scores of 91% (eukaryote_odb10) and 73% (metazoa_odb10). Macrosynteny is well conserved with Echinococcus granulosus and Hymenolepis microstoma, moderately conserved with the trematode Schistosoma mansoni, but largely disrupted in the free-living flatworm Schmidtea mediterranea, revealing lineage-specific genome reorganization among flatworms. To enable functional genetics, we identified candidate genomic safe harbours (GSHs)-intergenic loci within transcriptionally active neighborhoods, separated from adjacent genes by 2-10 kb gene-free buffers, flanked by convergently oriented genes, and containing CRISPR/Cas9 PAM motifs (NGG)-and compiled housekeeping promoters for stable transgene expression. Together, these resources provide a reference framework for chromosome evolution and parasitic adaptation in Diphyllobothriidea and establish practical entry points for CRISPR-based functional studies in cestodes.

Sparganum proliferum是一种神秘的,高度增殖的寄生蜂,导致致命的Sparganum病。我们利用Oxford Nanopore、PacBio HiFi、Illumina和Hi-C数据组装了一个681mb的染色体水平基因组,得到了9个符合2n = 18的染色体长度支架。该组合具有强烈的染色体内Hi-C接触信号,重复序列含量为55.8%,以LINEs为主。我们注释了29231个蛋白质编码基因,包括6316个转座元件相关位点,BUSCO完整性评分为91% (eukaryote_odb10)和73% (metazoa_odb10)。细粒棘球绦虫和小口膜膜绦虫的大同步性保守得很好,曼氏血吸虫的大同步性保守得中等,但在自由生活的地中海扁虫中大部分被破坏,揭示了扁虫之间谱系特异性的基因组重组。为了实现功能遗传学,我们确定了候选基因组安全港(GSHs)——转录活性社区内的基因间位点,与邻近基因通过2-10 kb无基因缓冲区分开,两侧是趋同导向基因,含有CRISPR/Cas9 PAM基序(NGG)——并编译了稳定转基因表达的内源性启动子。总之,这些资源为Diphyllobothriidea的染色体进化和寄生适应提供了参考框架,并为基于crispr的cestodes功能研究建立了实用的切入点。
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引用次数: 0
Small snakes, big cities: Population genetics of urban Dekay's brown snake (Storeria dekayi) in New Jersey. 小蛇,大城市:新泽西州城市德凯褐蛇(Storeria dekayi)的种群遗传学。
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-05 DOI: 10.1093/jhered/esaf042
Tianqi Huang, Isaac Overcast, Arianna Kuhn, Peter J Morin, Sara Ruane

Despite the unprecedented rate of global urbanization, diverse array of taxa are supported in urban areas. However, the long-term persistence of urban wildlife cannot be guaranteed due to the various adverse effects that come with urbanization, such as resource depletion and reduced gene flow. Accordingly, it is imperative to evaluate the health and viability of urban wildlife, particularly of species that are underrepresented in the existing literature, like herpetofauna. Genomic techniques can provide critical insights into urban wildlife health and population viability. Here, we generated a ddRADseq dataset of 162 Dekay's brown snakes (Storeria dekayi) among 11 locations with different urbanization magnitudes across New Jersey, United States of America, and examined the population genetic patterns of this common urban reptile. While genetic diversity was not severely reduced within those populations, we uncovered the presence of genetic differentiation and structuring across them, especially for those from the most urbanized areas. Deviations of interpopulation structure from their geographic distributions might reflect either habitat alteration or human intervention in recent history. Landscape genetic analyses revealed the presence of an isolation-by-distance relationship that was only significant within a short spatial distance of 1,500 m. Most urban populations also displayed lower-than-expected historic migration and diversity rates, but some remained genetically connected and diverse. To conclude, our study can serve as a useful guide for population genomic studies on urban herpetofauna. Based on our results, urbanization is likely to impact interpopulation genetic connectivity, but to have limited effects on intrapopulation genetic diversity of small-bodied, terrestrial urban dwellers.

尽管全球城市化的速度前所未有,但城市地区仍支持着各种各样的类群。然而,由于城市化带来的各种不利影响,如资源枯竭和基因流动减少,城市野生动物的长期持久性无法得到保证。因此,有必要评估城市野生动物的健康和生存能力,特别是那些在现有文献中代表性不足的物种,如爬行动物。基因组技术可以提供对城市野生动物健康和种群生存能力的重要见解。在此,我们在美国新泽西州11个不同城市化程度的地点生成了162条德凯褐蛇(Storeria dekayi)的ddRADseq数据集,并研究了这种常见的城市爬行动物的种群遗传模式。虽然遗传多样性在这些人群中没有严重减少,但我们发现了遗传分化和结构的存在,特别是在那些来自最城市化地区的人群中。种群间结构与其地理分布的偏离可能反映了近代史上生境的改变或人类的干预。景观遗传分析显示,仅在1500 m的短空间距离内存在距离隔离关系。大多数城市人口也显示出低于预期的历史迁移和多样性率,但一些城市人口仍保持遗传联系和多样性。本研究可为城市爬行动物种群基因组研究提供有益的指导。基于我们的研究结果,城市化可能会影响种群间的遗传连通性,但对小体陆地城市居民种群内遗传多样性的影响有限。
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引用次数: 0
A genome assembly for a textbook mammalian study species, the California ground squirrel (Otospermophilus beecheyi). 一个教科书哺乳动物研究物种的基因组组装,加利福尼亚地松鼠(otospermoophilus beecheyi)。
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-05 DOI: 10.1093/jhered/esaf045
Matthew L Holding, Sree Rohit Raj Kolora, Jennifer E Smith, Shana L McDevitt, Peter H Sudmant, Rebecca D Tarvin

Squirrels (Rodentia; Sciuridae) are a well-known and diverse group of rodents, including the charismatic ground-dwelling members of the Tribe Marmotini. In particular, the California ground squirrel (Otospermophilus beecheyi) is an emerging model system for the study of social and risk-sensitive behaviors in a rapidly changing world, as well as the physiology of resistance to snake venoms. To complement extensive natural history information for O. beecheyi, we provide a chromosome-scale genome to facilitate molecular studies focused on the genetic basis of ecologically important traits, population genetics, comparative genomics, and social evolution. The final scaffolded genome was 2.27 Gb contained in 9,960 contigs and placed into 1,383 scaffolds. The scaffold N50 was just more than 125 Mb. We used the presence of 10,248 complete genes detected by BUSCO v5 specifically to compare broad patterns of chromosomal synteny between chromosomal scaffolds for O. beecheyi and two other sciurid rodents. The recovered pattern of synteny suggests several fusion and fission events for O. beecheyi in relation to the other two species. Taken together, this new information should advance our understanding of O. beecheyi and comparative studies of mammalian genomic biology and evolution.

松鼠(啮齿目;猴科(Sciuridae)是一种众所周知的啮齿类动物,种类繁多,包括有魅力的地栖动物Marmotini部落。特别是,加州地松鼠(otospermoophilus beecheyi)是一个新兴的模型系统,用于研究快速变化的世界中的社会和风险敏感行为,以及对蛇毒的抗性生理。为了补充广泛的自然历史信息,我们提供了一个染色体尺度的基因组,以促进分子研究的重点是生态重要性状的遗传基础,群体遗传学,比较基因组学和社会进化。最终的支架基因组为2.27 Gb,包含在9960个contigs中,放置在1383个支架中。我们利用BUSCO v5特异性检测到的10 248个完整基因,比较了山毛榉鼠和其他两种鼠类染色体支架之间的染色体合群的广泛模式。发现的合群模式表明,与其他两个物种相比,山毛榉有几次融合和裂变事件。综上所述,这些新信息将促进我们对毛毛犀的理解以及哺乳动物基因组生物学和进化的比较研究。
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引用次数: 0
A reference genome assembly for the pink volcano barnacle, Tetraclita rubescens, Nilsson-Cantell, 1931. 粉红色火山藤壶的参考基因组组装,Rubescens, Nilsson-Cantell, 1931。
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-05 DOI: 10.1093/jhered/esaf052
Bailey J Carlson, Melissa B DeBiasse, Carmen Del R Pedraza-Marrón, Merly Escalona, Noravit Chumchim, Mohan P A Marimuthu, Courtney Miller, Oanh Nguyen, William E Seligmann, Michael N Dawson

The pink volcano barnacle, Tetraclita rubescens, has experienced a poleward range expansion along the eastern Pacific coastline amidst recent climate changes, likely facilitated by high gene flow and high genetic diversity in a large population. A high-quality reference genome provides the next step to investigate these patterns in more detail. We present a highly contiguous, chromosome-level genome assembly for T. rubescens using long-read sequencing and short-read proximity ligation data. The genome assembly is 2.44 Gb, contains 92.5% complete ortholog genes based on the known Arthropoda gene list, the largest N50 compared with other high-quality barnacle genomes (~107 Mb), and a low L50 score (10 scaffolds). With this chromosome-level assembly, we will be better able to contrast the roles of drift, migration, and selection in population and spatial expansion dynamics and the roles of dispersal and adaptation within the range and to investigate the genomic diversity of the species, including the roles of transposable elements in the genome. T. rubescens is an iconic barnacle on central and southern Californian rocky intertidal shores, and understanding its dynamics can help inform and support the conservation of intertidal communities along the northeastern Pacific coastline.

在最近的气候变化中,粉红色的火山藤壶(Tetraclita rubescens)沿着东太平洋海岸线向极地地区扩张,这可能是由于大量种群的高基因流动和高遗传多样性所促进的。高质量的参考基因组为更详细地研究这些模式提供了下一步。我们提出了一个高度连续的,染色体水平的基因组组装的T. rubescens使用长读测序和短读接近连接数据。该基因组总装量为2.44 Gb,在节肢动物已知基因表中包含92.5%的同源基因完整度,是其他高质量藤壶基因组中N50最大的(~107 Mb), L50评分最低(10个支架)。利用这种染色体水平的组装,我们将能够更好地对比漂移、迁移和选择在种群和空间扩张动力学中的作用,范围内的扩散和适应的作用,并研究物种的基因组多样性,包括转座因子在基因组中的作用。T. rubescens是加利福尼亚中部和南部岩石潮间带海岸的标志性藤壶,了解其动态可以帮助了解和支持东北太平洋海岸线潮间带群落的保护。
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引用次数: 0
A chromosome-level reference genome assembly for Gilbert's skink Plestiodon gilberti. 吉尔伯特氏石龙Plestiodon gilberti的染色体水平参考基因组组装。
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-05 DOI: 10.1093/jhered/esaf040
Jonathan Q Richmond, Merly Escalona, Mohan P A Marimuthu, Oanh Nguyen, Samuel Sacco, Eric Beraut, Erin Toffelmier, Benjamin R Karin, Robert D Cooper, Robert N Fisher, Ian J Wang, H Bradley Shaffer

Advances in genomic studies are revealing that gene flow between species is more frequent than previously understood, although the ways in which hybridization can bias gene flow across species boundaries or the extent to which introgression might be adaptive remain unexplored in most systems. We report on an annotated chromosome-level genome assembly for the Gilbert's skink, Plestiodon gilberti, one of 18 clades of reptiles and amphibians selected for reference genome sequencing in the California Conservation Genomics Project. This assembly was produced using Pacific Biosciences HiFi long reads and Omni-C proximity ligation data. Although members of the Scincidae comprise nearly one-quarter of all lizard species (1785 described species), this de novo assembly represents one of only 10 skink species globally and the first North American skink with a reference genome. The assembly has a total length of ~ 1.57 Gb, a scaffold N50 length of ~ 231.32 Mb, read coverage of ~56X, and BUSCO completeness score of 97.2% based on the Tetrapoda ortholog database. Plestiodon gilberti is a member of the Plestiodon skiltonianus species complex, a group with many of the characteristics of ecological speciation but where ancient hybridization and biased introgression present challenges to retracing the initial patterns of lineage divergence. Combined with dense sampling of resequenced genomes in the California Conservation Genomics Project, including other members of the P. skiltonianus complex, this reference genome will enable future analyses of the links between divergent selection and the genes underlying speciation, as well as the potential for introgression to enable adaptation to new or changing environments.

基因组研究的进展表明,物种之间的基因流动比以前所了解的更为频繁,尽管在大多数系统中,杂交可以使基因流动偏向物种边界的方式或基因渗入可能具有适应性的程度仍未被探索。在加州保护基因组计划(CCGP)中,gilberti Plestiodon是18个爬行动物和两栖动物分支之一,我们报道了Gilbert’s skink的染色体水平的注释基因组组装。该组件使用Pacific Biosciences的HiFi长读数和Omni-C近距离连接数据制作。尽管蜥蜴科的成员占所有蜥蜴物种的近四分之一(1785种已被描述的物种),但这一新组合代表了全球仅有的10种蜥蜴物种之一,也是第一个具有参考基因组的北美蜥蜴。该组装体全长约1.57 Gb,支架N50长度约231.32 Mb,读取覆盖率约56X,基于Tetrapoda ortholog数据库的BUSCO完整性评分为97.2%。gilberti Plestiodon是skiltonianus Plestiodon物种群的一员,该物种群具有许多生态物种形成的特征,但古代杂交事件对解开谱系分化的初始模式提出了挑战。结合CCGP中重测序基因组的密集采样,包括P. skiltonianus复合体的其他成员,该参考基因组将使未来分析分歧选择与物种形成基础基因之间的联系,以及使适应新的或不断变化的环境的渗入潜力成为可能。
{"title":"A chromosome-level reference genome assembly for Gilbert's skink Plestiodon gilberti.","authors":"Jonathan Q Richmond, Merly Escalona, Mohan P A Marimuthu, Oanh Nguyen, Samuel Sacco, Eric Beraut, Erin Toffelmier, Benjamin R Karin, Robert D Cooper, Robert N Fisher, Ian J Wang, H Bradley Shaffer","doi":"10.1093/jhered/esaf040","DOIUrl":"10.1093/jhered/esaf040","url":null,"abstract":"<p><p>Advances in genomic studies are revealing that gene flow between species is more frequent than previously understood, although the ways in which hybridization can bias gene flow across species boundaries or the extent to which introgression might be adaptive remain unexplored in most systems. We report on an annotated chromosome-level genome assembly for the Gilbert's skink, Plestiodon gilberti, one of 18 clades of reptiles and amphibians selected for reference genome sequencing in the California Conservation Genomics Project. This assembly was produced using Pacific Biosciences HiFi long reads and Omni-C proximity ligation data. Although members of the Scincidae comprise nearly one-quarter of all lizard species (1785 described species), this de novo assembly represents one of only 10 skink species globally and the first North American skink with a reference genome. The assembly has a total length of ~ 1.57 Gb, a scaffold N50 length of ~ 231.32 Mb, read coverage of ~56X, and BUSCO completeness score of 97.2% based on the Tetrapoda ortholog database. Plestiodon gilberti is a member of the Plestiodon skiltonianus species complex, a group with many of the characteristics of ecological speciation but where ancient hybridization and biased introgression present challenges to retracing the initial patterns of lineage divergence. Combined with dense sampling of resequenced genomes in the California Conservation Genomics Project, including other members of the P. skiltonianus complex, this reference genome will enable future analyses of the links between divergent selection and the genes underlying speciation, as well as the potential for introgression to enable adaptation to new or changing environments.</p>","PeriodicalId":54811,"journal":{"name":"Journal of Heredity","volume":" ","pages":"115-125"},"PeriodicalIF":2.5,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12767197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144531180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of whole-genome assemblies of European river lamprey (Lampetra fluviatilis) and brook lamprey (Lampetra planeri). 欧洲河七鳃鳗(Lampetra fluviatilis)和溪七鳃鳗(Lampetra planeri)全基因组组合的比较。
IF 2.5 2区 生物学 Q2 EVOLUTIONARY BIOLOGY Pub Date : 2026-01-05 DOI: 10.1093/jhered/esaf036
Ole K Tørresen, Benedicte Garmann-Aarhus, Siv Nam Khang Hoff, Sissel Jentoft, Mikael Svensson, Eivind Schartum, Ave Tooming-Klunderud, Morten Skage, Anders Krabberød, Leif Asbjørn Vøllestad, Kjetill S Jakobsen

We present haplotype-resolved whole-genome assemblies from one individual European river lamprey (Lampetra fluviatilis) and one individual brook lamprey (Lampetra planeri), usually regarded as sister species. The genome assembly of L. fluviatilis consists of pseudo-haplotype one, spanning 1073 Mb and pseudo-haplotype two, spanning 963 Mb. Likewise for the L. planeri specimen, the genome assembly spans 1049 Mb and 960 Mb for pseudo-haplotypes one and two, respectively. Both the L. fluviatilis pseudo-haplotypes have been scaffolded into 82 pseudo-chromosomes, with the same number for the L. planeri pseudo-haplotypes. All four pseudo-haplotype assemblies were annotated, identifying 21,479 and 16,973 genes in pseudo-haplotypes one and two for L. fluviatilis, and 24,961 and 21,668 genes in pseudo-haplotypes one and two for L. planeri. A comparison of the genomes of L. fluviatilis and L. planeri, alongside a separate chromosome level assembly of L. fluviatilis from the UK, indicates that they form a species complex, potentially representing distinct ecotypes. This is further supported by phylogenetic analyses of the three reference Lampetra genomes in addition to sea lamprey (Petromyzon marinus).

我们展示了一只欧洲河七鳃鳗(Lampetra fluviatilis)和一只通常被视为姐妹物种的溪七鳃鳗(Lampetra planeri)的单倍型解析全基因组组装。L. fluviatilis的基因组组装由伪单倍型1 (1073 Mb)和伪单倍型2 (963 Mb)组成。同样,L. planeri标本的伪单倍型1和伪单倍型2的基因组组装分别为1049 Mb和960 Mb。两种假单倍型的假染色体数目相同,河流乳杆菌和平原乳杆菌的假单倍型的假染色体数目相同。对所有4个伪单倍型组合进行了注释,鉴定出河流乳杆菌1和2伪单倍型基因分别为21,479和16,973个,平面乳杆菌1和2伪单倍型基因分别为24,961和21,668个。比较了L. fluviatilis和L. planeri的基因组,以及来自英国的L. fluviatilis的单独染色体水平组装,表明它们形成了一个物种复合体,可能代表不同的生态型。这一结论进一步得到了三种参考七鳃鳗基因组和海七鳃鳗(Petromyzon marinus)基因组系统发育分析的支持。
{"title":"Comparison of whole-genome assemblies of European river lamprey (Lampetra fluviatilis) and brook lamprey (Lampetra planeri).","authors":"Ole K Tørresen, Benedicte Garmann-Aarhus, Siv Nam Khang Hoff, Sissel Jentoft, Mikael Svensson, Eivind Schartum, Ave Tooming-Klunderud, Morten Skage, Anders Krabberød, Leif Asbjørn Vøllestad, Kjetill S Jakobsen","doi":"10.1093/jhered/esaf036","DOIUrl":"10.1093/jhered/esaf036","url":null,"abstract":"<p><p>We present haplotype-resolved whole-genome assemblies from one individual European river lamprey (Lampetra fluviatilis) and one individual brook lamprey (Lampetra planeri), usually regarded as sister species. The genome assembly of L. fluviatilis consists of pseudo-haplotype one, spanning 1073 Mb and pseudo-haplotype two, spanning 963 Mb. Likewise for the L. planeri specimen, the genome assembly spans 1049 Mb and 960 Mb for pseudo-haplotypes one and two, respectively. Both the L. fluviatilis pseudo-haplotypes have been scaffolded into 82 pseudo-chromosomes, with the same number for the L. planeri pseudo-haplotypes. All four pseudo-haplotype assemblies were annotated, identifying 21,479 and 16,973 genes in pseudo-haplotypes one and two for L. fluviatilis, and 24,961 and 21,668 genes in pseudo-haplotypes one and two for L. planeri. A comparison of the genomes of L. fluviatilis and L. planeri, alongside a separate chromosome level assembly of L. fluviatilis from the UK, indicates that they form a species complex, potentially representing distinct ecotypes. This is further supported by phylogenetic analyses of the three reference Lampetra genomes in addition to sea lamprey (Petromyzon marinus).</p>","PeriodicalId":54811,"journal":{"name":"Journal of Heredity","volume":" ","pages":"96-106"},"PeriodicalIF":2.5,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12767195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144287135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Journal of Heredity
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