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Genetic structure and landscape effects on gene flow in the Neotropical lizard Norops brasiliensis (Squamata: Dactyloidae) 新热带蜥蜴 Norops brasiliensis(Squamata: Dactyloidae)的基因结构和景观对基因流动的影响
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-04-04 DOI: 10.1038/s41437-024-00682-5
Emanuel M. Fonseca, Nathaniel S. Pope, William E. Peterman, Fernanda P. Werneck, Guarino R. Colli, Bryan C. Carstens
One key research goal of evolutionary biology is to understand the origin and maintenance of genetic variation. In the Cerrado, the South American savanna located primarily in the Central Brazilian Plateau, many hypotheses have been proposed to explain how landscape features (e.g., geographic distance, river barriers, topographic compartmentalization, and historical climatic fluctuations) have promoted genetic structure by mediating gene flow. Here, we asked whether these landscape features have influenced the genetic structure and differentiation in the lizard species Norops brasiliensis (Squamata: Dactyloidae). To achieve our goal, we used a genetic clustering analysis and estimate an effective migration surface to assess genetic structure in the focal species. Optimized isolation-by-resistance models and a simulation-based approach combined with machine learning (convolutional neural network; CNN) were then used to infer current and historical effects on population genetic structure through 12 unique landscape models. We recovered five geographically distributed populations that are separated by regions of lower-than-expected gene flow. The results of the CNN showed that geographic distance is the sole predictor of genetic variation in N. brasiliensis, and that slope, rivers, and historical climate had no discernible influence on gene flow. Our novel CNN approach was accurate (89.5%) in differentiating each landscape model. CNN and other machine learning approaches are still largely unexplored in landscape genetics studies, representing promising avenues for future research with increasingly accessible genomic datasets.
进化生物学的一个重要研究目标是了解遗传变异的起源和维持。在主要位于巴西中部高原的南美洲热带稀树草原塞拉多(Cerrado),人们提出了许多假设来解释地貌特征(如地理距离、河流障碍、地形分隔和历史气候波动)如何通过介导基因流动来促进遗传结构。在此,我们探讨了这些地貌特征是否影响了蜥蜴物种 Norops brasiliensis(有鳞目:Dactyloidae)的遗传结构和分化。为了实现我们的目标,我们使用了遗传聚类分析和有效迁移面估计来评估重点物种的遗传结构。然后,我们使用优化的阻力隔离模型和基于模拟的方法,结合机器学习(卷积神经网络;CNN),通过 12 个独特的景观模型来推断当前和历史对种群遗传结构的影响。我们恢复了五个地理分布的种群,它们被基因流动低于预期的区域分隔开来。CNN 的结果表明,地理距离是预测 N. brasiliensis 遗传变异的唯一因素,而坡度、河流和历史气候对基因流动没有明显影响。我们的新型 CNN 方法能准确(89.5%)地区分每种景观模型。在景观遗传学研究中,CNN 和其他机器学习方法在很大程度上仍未被探索,但随着基因组数据集的日益普及,它们将成为未来研究的重要途径。
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引用次数: 0
Plasticity of circadian and circatidal rhythms in activity and transcriptomic dynamics in a freshwater snail 淡水蜗牛活动和转录组动态的昼夜节律和潮汐节律的可塑性
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-03-27 DOI: 10.1038/s41437-024-00680-7
Takumi Yokomizo, Yuma Takahashi
Organisms have diverse biological clocks synchronised with environmental cycles depending on their habitats. Anticipation of tidal changes has driven the evolution of circatidal rhythms in some marine species. In the freshwater snail, Semisulcospira reiniana, individuals in nontidal areas exhibit circadian rhythms, whereas those in tidal areas exhibit both circadian and circatidal rhythms. We investigated whether the circatidal rhythms are genetically determined or induced by environmental cycles. The exposure to a simulated tidal cycle did not change the intensity of circatidal rhythm in individuals in the nontidal population. However, snails in the tidal population showed different activity rhythms depending on the presence or absence of the exposure. Transcriptome analysis revealed that genes with circatidal oscillation increased due to entrainment to the tidal cycle in both populations and dominant rhythmicity was consistent with the environmental cycle. These results suggest plasticity in the endogenous rhythm in the gene expression in both populations. Note that circatidal oscillating genes were more abundant in the tidal population than in the nontidal population, suggesting that a greater number of genes are associated with circatidal clocks in the tidal population compared to the nontidal population. This increase of circatidal clock–controlled genes in the tidal population could be caused by genetic changes in the biological clock or the experience of tidal cycle in the early life stage. Our findings suggest that the plasticity of biological rhythms may have contributed to the adaptation to the tidal environment in S. reiniana.
生物具有与环境周期同步的各种生物钟,这取决于它们的栖息地。对潮汐变化的预期推动了一些海洋物种昼夜节律的进化。在淡水蜗牛 Semisulcospira reiniana 中,非潮汐区的个体表现出昼夜节律,而潮汐区的个体则同时表现出昼夜节律和环潮节律。我们研究了昼夜节律是由基因决定的,还是由环境周期诱导的。模拟潮汐周期并没有改变非潮汐区个体的昼夜节律强度。然而,潮汐种群中的蜗牛却因是否暴露于潮汐而表现出不同的活动节律。转录组分析表明,在两个种群中,由于潮汐周期的夹带作用,具有环潮振荡的基因增加了,并且主导节律性与环境周期一致。这些结果表明,两个种群基因表达的内源节律具有可塑性。需要注意的是,潮汐种群中的环潮振荡基因比非潮汐种群中的更丰富,这表明与非潮汐种群相比,潮汐种群中有更多的基因与环潮钟有关。潮汐群体中循环时钟控制基因的增加可能是由于生物钟的遗传变化或生命早期经历潮汐周期造成的。我们的研究结果表明,生物节律的可塑性可能促进了S. reiniana对潮汐环境的适应。
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引用次数: 0
Complex parental effects impact variation in larval thermal tolerance in a vertically transmitting coral 复杂的亲本效应影响垂直传播珊瑚幼虫耐热性的变化。
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-03-27 DOI: 10.1038/s41437-024-00681-6
Erika C. Johnston, Carlo Caruso, Elena Mujica, Nia S. Walker, Crawford Drury
Coral populations must be able to adapt to changing environmental conditions for coral reefs to persist under climate change. The adaptive potential of these organisms is difficult to forecast due to complex interactions between the host animal, dinoflagellate symbionts and the environment. Here we created 26 larval families from six Montipora capitata colonies from a single reef, showing significant, heritable variation in thermal tolerance. Our results indicate that 9.1% of larvae are expected to exhibit four times the thermal tolerance of the general population. Differences in larval thermotolerance were driven mainly by maternal contributions, but we found no evidence that these effects were driven by symbiont identity despite vertical transmission from the dam. We also document no evidence of reproductive incompatibility attributable to symbiont identity. These data demonstrate significant genetic variation within this population which provides the raw material upon which natural selection can act.
珊瑚种群必须能够适应不断变化的环境条件,珊瑚礁才能在气候变化中持续存在。由于宿主动物、甲藻共生体和环境之间复杂的相互作用,这些生物的适应潜力很难预测。在这里,我们从来自一个珊瑚礁的 6 个 Montipora capitata 群体中创建了 26 个幼虫家族,这些幼虫家族在耐热性方面表现出显著的遗传变异。我们的研究结果表明,9.1%的幼虫的耐热性是普通幼虫的四倍。幼虫耐热性的差异主要是由母体造成的,但我们没有发现证据表明这些影响是由共生体特性造成的,尽管共生体特性是从坝体垂直传播的。我们也没有发现共生体特性导致生殖不相容的证据。这些数据表明,该种群的遗传变异很大,这为自然选择提供了原材料。
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引用次数: 0
Hybrids of two destructive subterranean termites established in the field, revealing a potential for gene flow between species 两种毁灭性地下白蚁在野外杂交,揭示物种间基因流动的潜力
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-03-20 DOI: 10.1038/s41437-024-00679-0
Guan-Yu Chen, Shih-Ying Huang, Ming-Der Lin, Thomas Chouvenc, Yung-Hao Ching, Hou-Feng Li
Hybridization between invasive pest species may lead to significant genetic and economic impacts that require close monitoring. The two most invasive and destructive termite species worldwide, Coptotermes formosanus Shiraki and Coptotermes gestroi (Wasmann), have the potential for hybridization in the field. A three-year field survey conducted during the dispersal flight season of Coptotermes in Taiwan identified alates with atypical morphology, which were confirmed as hybrids of the two Coptotermes species using microsatellite and mitochondrial analyses. Out of 27,601 alates collected over three years, 4.4% were confirmed as hybrid alates, and some advanced hybrids (>F1 generations) were identified. The hybrid alates had a dispersal flight season that overlapped with the two parental species 13 out of 15 times. Most of the hybrid alates were females, implying that mating opportunities beyond F1 may primarily be possible through female hybrids. However, the incipient colony growth results from all potential mating combinations suggest that only backcross colonies with hybrid males could sometimes lead to brood development. The observed asymmetrical viability and fertility of hybrid alates may critically reduce the probability of advanced-hybrid colonies being established in the field.
入侵害虫物种之间的杂交可能会导致重大的遗传和经济影响,需要密切监测。世界上两种最具入侵性和破坏性的白蚁--Coptotermes formosanus Shiraki 和 Coptotermes gestroi (Wasmann),在野外都有可能发生杂交。在台湾白蚁扩散飞行季节进行的为期三年的野外调查发现了形态不典型的白蚁,并通过微卫星和线粒体分析证实了它们是两个白蚁种的杂交种。在历时三年采集的27601只白头翁中,有4.4%被确认为杂交白头翁,并发现了一些高级杂交种(F1代)。在15次杂交中,有13次杂交鸥的扩散飞行季节与两个亲本重叠。大多数杂交杓鹬都是雌性,这意味着 F1 代以外的交配机会可能主要通过雌性杂交种来实现。然而,所有潜在交配组合的初生蚁群生长结果表明,只有与杂交雄蚁回交的蚁群有时才能育雏。观察到的杂交胭脂鱼不对称的生存力和繁殖力可能会严重降低在野外建立高级杂交群落的可能性。
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引用次数: 0
Genetic and geographic population structure in the malaria vector, Anopheles farauti, provides a candidate system for pioneering confinable gene-drive releases 疟疾病媒 Anopheles farauti 的遗传和地理种群结构为开创可封闭基因驱动释放提供了一个候选系统。
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-03-18 DOI: 10.1038/s41437-024-00677-2
Luke Ambrose, Scott L. Allen, Charlie Iro’ofa, Charles Butafa, Nigel W. Beebe
Indoor insecticide applications are the primary tool for reducing malaria transmission in the Solomon Archipelago, a region where Anopheles farauti is the only common malaria vector. Due to the evolution of behavioural resistance in some An. farauti populations, these applications have become less effective. New malaria control interventions are therefore needed in this region, and gene-drives provide a promising new technology. In considering developing a population-specific (local) gene-drive in An. farauti, we detail the species’ population genetic structure using microsatellites and whole mitogenomes, finding many spatially confined populations both within and between landmasses. This strong population structure suggests that An. farauti would be a useful system for developing a population-specific, confinable gene-drive for field release, where private alleles can be used as Cas9 targets. Previous work on Anopheles gambiae has used the Cardinal gene for the development of a global population replacement gene-drive. We therefore also analyse the Cardinal gene to assess whether it may be a suitable target to engineer a gene-drive for the modification of local An. farauti populations. Despite the extensive population structure observed in An. farauti for microsatellites, only one remote island population from Vanuatu contained fixed and private alleles at the Cardinal locus. Nonetheless, this study provides an initial framework for further population genomic investigations to discover high-frequency private allele targets in localized An. farauti populations. This would enable the development of gene-drive strains for modifying localised populations with minimal chance of escape and may provide a low-risk route to field trial evaluations.
在所罗门群岛,法罗帝疟蚊是唯一常见的疟疾病媒,而室内喷洒杀虫剂是减少疟疾传播的主要手段。由于一些法氏疟蚊种群产生了行为抗药性,室内杀虫剂的使用效果已大打折扣。因此,该地区需要新的疟疾控制干预措施,而基因驱动技术提供了一种前景广阔的新技术。在考虑开发法氏疟原虫种群特异性(本地)基因驱动时,我们使用微卫星和整个有丝分裂基因组详细研究了该物种的种群遗传结构,发现在陆地内部和陆地之间存在许多空间局限性种群。这种强大的种群结构表明,法氏疟蚊将是一个有用的系统,可用于开发种群特异性的、可限制的基因驱动,以进行野外释放,其中私有等位基因可用作 Cas9 靶标。此前有关冈比亚按蚊的研究利用卡迪纳尔基因开发了全球种群替代基因驱动。因此,我们也对卡迪纳尔基因进行了分析,以评估它是否适合作为改造当地法氏疟蚊种群的基因驱动的目标。尽管在法氏鳗的微卫星上观察到了广泛的种群结构,但只有一个来自瓦努阿图的偏远岛屿种群在Cardinal基因座上含有固定的等位基因。尽管如此,这项研究为进一步的种群基因组调查提供了一个初步框架,以发现法劳提蚁局部种群中的高频私人等位基因目标。这将使基因驱动品系的开发成为可能,从而以最小的逃逸几率改造局部种群,并为田间试验评估提供了一条低风险途径。
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引用次数: 0
Parental kinship coefficient but not paternal coloration predicts early offspring growth in lake char 亲缘关系系数而非父系肤色可预测湖泊红点鲑后代的早期生长。
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-03-13 DOI: 10.1038/s41437-024-00678-1
Laura Garaud, David Nusbaumer, Lucas Marques da Cunha, Christian de Guttry, Laurie Ançay, Audrey Atherton, Emilien Lasne, Claus Wedekind
The ‘good genes’ hypotheses of sexual selection predict that females prefer males with strong ornaments because they are in good health and vigor and can afford the costs of the ornaments. A key assumption of this concept is that male health and vigor are useful predictors of genetic quality and hence offspring performance. We tested this prediction in wild-caught lake char (Salvelinus umbla) whose breeding coloration is known to reveal aspects of male health. We first reanalyzed results from sperm competition trials in which embryos of known parenthood had been raised singly in either a stress- or non-stress environment. Paternal coloration did not correlate with any measures of offspring performance. However, offspring growth was reduced with higher kinship coefficients between the parents. To test the robustness of these first observations, we collected a new sample of wild males and females, used their gametes in a full-factorial in vitro breeding experiment, and singly raised about 3000 embryos in either a stress- or non-stress environment (stress induced by microbes). Again, paternal coloration did not predict offspring performance, while offspring growth was reduced with higher kinship between the parents. We conclude that, in lake char, the genetic benefits of mate choice would be strongest if females could recognize and avoid genetically related males, while male breeding colors may be more relevant in intra-sexual selection.
性选择的 "好基因 "假说认为,雌性更喜欢有强壮装饰物的雄性,因为它们健康和活力良好,而且能够负担装饰物的费用。这一概念的一个关键假设是,雄性的健康和活力可以有效预测遗传质量,从而预测后代的表现。我们在野生捕获的湖白鲑(Salvelinus umbla)身上测试了这一预测,众所周知,湖白鲑的繁殖着色可以揭示雄性健康的各个方面。我们首先重新分析了精子竞争试验的结果,在这些试验中,已知亲子关系的胚胎是在应激或非应激环境中单个养育的。父体肤色与后代表现的任何指标都不相关。然而,亲代之间的亲缘关系系数越高,后代的生长速度越慢。为了检验这些初步观察结果的稳健性,我们收集了新的野生雄性和雌性样本,将它们的配子用于全因子体外繁殖实验,并在应激或非应激环境(微生物诱导的应激)中单独培育了约 3000 个胚胎。同样,父亲的肤色并不能预测后代的表现,而亲缘关系越近,后代的生长速度越慢。我们的结论是,在湖泊焦炭中,如果雌性能识别并避开有遗传亲缘关系的雄性,择偶的遗传益处就会最大,而雄性的繁殖颜色可能与性内选择更相关。
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引用次数: 0
Relatedness-based mate choice and female philopatry: inbreeding trends of wolf packs in a human-dominated landscape 基于亲缘关系的择偶和雌性相亲:狼群在人类占主导地位的景观中的近亲繁殖趋势。
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-03-12 DOI: 10.1038/s41437-024-00676-3
Carolina Pacheco, Helena Rio-Maior, Mónia Nakamura, Francisco Álvares, Raquel Godinho
Inbreeding can reduce offspring fitness and has substantial implications for the genetic diversity and long-term viability of populations. In social cooperative canids, inbreeding is conditioned by the geographic proximity between opposite-sex kin outside natal groups and the presence of related individuals in neighbouring groups. Consequently, challenges in moving into other regions where the species is present can also affect inbreeding rates. These can be particularly problematic in areas of high human density, where movement can be restricted, even for highly vagile species. In this study, we investigate the socio-ecological dynamics of Iberian wolf packs in the human-dominated landscape of Alto Minho, in northwest Portugal, where wolves exhibit a high prevalence of short-distance dispersal and limited gene flow with neighbouring regions. We hypothesise that mating occurs regardless of relatedness, resulting in recurrent inbreeding due to high kin encounter rates. Using data from a 10-year non-invasive genetic monitoring programme and a combination of relatedness estimates and genealogical reconstructions, we describe genetic diversity, mate choice, and dispersal strategies among Alto Minho packs. In contrast with expectations, our findings reveal relatedness-based mate choice, low kin encounter rates, and a reduced number of inbreeding events. We observed a high prevalence of philopatry, particularly among female breeders, with the most common breeding strategy involving the pairing of a philopatric female with an unrelated immigrant male. Overall, wolves were not inbred, and temporal changes in genetic diversity were not significant. Our findings are discussed, considering the demographic trend of wolves in Alto Minho and its human-dominated landscape.
近亲繁殖会降低后代的体质,对种群的遗传多样性和长期生存能力有很大影响。在社会合作性犬科动物中,近亲繁殖受出生地群体外异性亲属之间的地理距离以及邻近群体中相关个体的存在的制约。因此,迁徙到该物种所在的其他地区所面临的挑战也会影响近亲繁殖率。在人类高度密集的地区,这些问题尤为严重,因为在这些地区,即使是高度雌雄同体的物种,行动也会受到限制。在这项研究中,我们调查了葡萄牙西北部上米尼奥地区人类占主导地位的伊比利亚狼群的社会生态动态,该地区的狼群表现出较高的短距离散布率,与邻近地区的基因流动有限。我们假设,交配的发生与亲缘关系无关,这就导致了高亲缘相遇率下的近亲繁殖。利用一项为期 10 年的非侵入性遗传监测项目的数据,并结合亲缘关系估计和系谱重建,我们描述了上米尼奥狼群的遗传多样性、配偶选择和散布策略。与预期不同的是,我们的发现揭示了基于亲缘关系的配偶选择、较低的亲属相遇率和较少的近亲繁殖事件。我们观察到,雌性狼群中,尤其是雌性繁殖狼群中,恋亲现象非常普遍,最常见的繁殖策略是将恋亲的雌性狼群与无血缘关系的外来雄性狼群配对。总体而言,狼没有近亲繁殖,遗传多样性的时间变化也不显著。考虑到上米尼奥狼的人口趋势及其以人类为主的地貌,我们对研究结果进行了讨论。
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引用次数: 0
Genetic and behavioral differences between above and below ground Culex pipiens bioforms 地上和地下库蚊生物形态的遗传和行为差异。
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-02-29 DOI: 10.1038/s41437-024-00675-4
Katherine L. Bell, Anna Noreuil, Erin K. Molloy, Megan L. Fritz
Efficiency of mosquito-borne disease transmission is dependent upon both the preference and fidelity of mosquitoes as they seek the blood of vertebrate hosts. While mosquitoes select their blood hosts through multi-modal integration of sensory cues, host-seeking is primarily an odor-guided behavior. Differences in mosquito responses to hosts and their odors have been demonstrated to have a genetic component, but the underlying genomic architecture of these responses has yet to be fully resolved. Here, we provide the first characterization of the genomic architecture of host preference in the polymorphic mosquito species, Culex pipiens. The species exists as two morphologically identical bioforms, each with distinct avian and mammalian host preferences. Cx. pipiens females with empirically measured host responses were prepared into reduced representation DNA libraries and sequenced to identify genomic regions associated with host preference. Multiple genomic regions associated with host preference were identified on all 3 Culex chromosomes, and these genomic regions contained clusters of chemosensory genes, as expected based on work in Anopheles gambiae complex mosquitoes and in Aedes aegypti. One odorant receptor and one odorant binding protein gene showed one-to-one orthologous relationships to differentially expressed genes in A. gambiae complex members with divergent host preferences. Overall, our work identifies a distinct set of odorant receptors and odorant binding proteins that may enable Cx. pipiens females to distinguish between their vertebrate blood host species, and opens avenues for future functional studies that could measure the unique contributions of each gene to host preference phenotypes.
蚊子传播疾病的效率取决于蚊子在寻找脊椎动物宿主血液时的偏好和忠诚度。蚊子通过对感觉线索的多模式整合来选择血液宿主,而寻找宿主主要是一种气味引导的行为。蚊子对宿主及其气味的反应差异已被证明有遗传因素,但这些反应的潜在基因组结构尚未完全确定。在这里,我们首次描述了多态蚊子库蚊对宿主偏好的基因组结构。该物种有两种形态完全相同的生物形式,每种都有不同的禽类和哺乳动物宿主偏好。根据经验测得的宿主反应,将雌性喙库蚊制备成缩小代表 DNA 文库并进行测序,以确定与宿主偏好相关的基因组区域。在库蚊的所有 3 条染色体上都发现了与宿主偏好相关的多个基因组区域,这些基因组区域包含化学感觉基因簇,这与在冈比亚按蚊复合体和埃及伊蚊中的研究结果是一致的。一个气味受体基因和一个气味结合蛋白基因与具有不同宿主偏好的冈比亚按蚊复合体成员中的不同表达基因显示出一对一的同源关系。总之,我们的研究发现了一组不同的气味受体和气味结合蛋白,它们可能使蝰蛇雌虫能够区分其脊椎动物血液宿主的种类,并为未来的功能研究开辟了途径,可以测量每个基因对宿主偏好表型的独特贡献。
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引用次数: 0
The evolutionary significance of post-transcriptional gene regulation 转录后基因调控的进化意义。
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-02-16 DOI: 10.1038/s41437-024-00674-5
Jukka-Pekka Verta, Arne Jacobs
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引用次数: 0
Investigating pedigree- and SNP-associated components of heritability in a wild population of Soay sheep 调查索伊羊野生种群遗传率中与血统和 SNP 相关的成分。
IF 3.8 2区 生物学 Q2 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-02-10 DOI: 10.1038/s41437-024-00673-6
Caelinn James, Josephine M. Pemberton, Pau Navarro, Sara Knott
Estimates of narrow sense heritability derived from genomic data that contain related individuals may be biased due to the within-family effects such as dominance, epistasis and common environmental factors. However, for many wild populations, removal of related individuals from the data would result in small sample sizes. In 2013, Zaitlen et al. proposed a method to estimate heritability in populations that include close relatives by simultaneously fitting an identity-by-state (IBS) genomic relatedness matrix (GRM) and an identity-by-descent (IBD) GRM. The IBD GRM is identical to the IBS GRM, except relatedness estimates below a specified threshold are set to 0. We applied this method to a sample of 8557 wild Soay sheep from St. Kilda, with genotypic information for 419,281 single nucleotide polymorphisms. We aimed to see how this method would partition heritability into population-level (IBS) and family-associated (IBD) variance for a range of genetic architectures, and so we focused on a mixture of polygenic and monogenic traits. We also implemented a variant of the model in which the IBD GRM was replaced by a GRM constructed from SNPs with low minor allele frequency to examine whether any additive genetic variance is captured by rare alleles. Whilst the inclusion of the IBD GRM did not significantly improve the fit of the model for the monogenic traits, it improved the fit for some of the polygenic traits, suggesting that dominance, epistasis and/or common environment not already captured by the non-genetic random effects fitted in our models may influence these traits.
从包含亲缘个体的基因组数据中得出的狭义遗传率估计值,可能会因显性、外显和共同环境因素等族内效应而产生偏差。然而,对于许多野生种群来说,从数据中剔除亲缘个体会导致样本量较小。2013 年,Zaitlen 等人提出了一种方法,通过同时拟合按状态(IBS)的基因组亲缘关系矩阵(GRM)和按世系(IBD)的基因组亲缘关系矩阵(GRM)来估计包括近亲在内的种群的遗传率。IBD GRM 与 IBS GRM 相同,只是低于特定阈值的亲缘关系估计值被设为 0。我们将这种方法应用于来自圣基尔达的 8557 只野生索伊羊样本,其中包含 419,281 个单核苷酸多态性的基因型信息。我们的目标是了解这种方法如何将遗传率划分为一系列遗传结构的群体水平(IBS)和家族相关(IBD)方差,因此我们重点研究了多基因和单基因性状的混合。我们还对模型进行了变异,用小等位基因频率较低的 SNPs 构建的 GRM 取代了 IBD GRM,以检验稀有等位基因是否捕获了任何附加遗传变异。虽然加入 IBD GRM 并没有显著改善单基因性状模型的拟合度,但却改善了一些多基因性状的拟合度,这表明我们模型中拟合的非遗传随机效应尚未捕捉到的显性、外显和/或共同环境可能会影响这些性状。
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