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Estimation of Jacquard's genetic identity coefficients with bi-allelic variants by constrained least-squares. 通过约束最小二乘法估算具有双等位基因变异的雅克遗传特征系数。
IF 3.1 2区 生物学 Q2 ECOLOGY Pub Date : 2024-11-07 DOI: 10.1038/s41437-024-00731-z
Jan Graffelman, Bruce S Weir, Jérôme Goudet

The Jacquard genetic identity coefficients are of fundamental importance in relatedness research. We address the estimation of these coefficients as well as other relationship parameters that derive from them such as kinship and inbreeding coefficients using a concise matrix framework. Estimation of the Jacquard coefficients via likelihood methods and the expectation-maximization algorithm is computationally very demanding for large numbers of polymorphisms. We propose a constrained least squares approach to estimate the Jacquard coefficients. A simulation study shows constrained least squares achieves root-mean-squared errors that are comparable with those of the maximum likelihood approach, in particular when founder allele frequencies are unknown, while obtaining enormous computational savings.

雅克遗传同一性系数在亲缘关系研究中至关重要。我们采用简明矩阵框架来估算这些系数以及由这些系数衍生出的其他关系参数,如亲缘关系系数和近交系数。通过似然法和期望最大化算法估算雅克系数,对大量多态性的计算要求非常高。我们提出了一种约束最小二乘法来估计提花系数。模拟研究表明,约束最小二乘法的均方根误差与最大似然法不相上下,尤其是在创始人等位基因频率未知的情况下,同时还节省了大量的计算量。
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引用次数: 0
Desert landscape features influencing the microgeographic genetic structure of Nelson's pocket mouse Chaetodipus nelsoni. 影响纳尔逊袋鼠(Chaetodipus nelsoni)微地理遗传结构的沙漠景观特征。
IF 3.1 2区 生物学 Q2 ECOLOGY Pub Date : 2024-11-02 DOI: 10.1038/s41437-024-00732-y
Gissella Pineda-Sánchez, Ella Vázquez-Domínguez

Elucidating the factors that drive the genetic patterns of natural populations is key in evolutionary biology, ecology and conservation. Hence, it is crucial to understand the role that environmental features play in species genetic diversity and structure. Landscape genetics measures functional connectivity and evaluates the effects of landscape composition, configuration, and heterogeneity on microevolutionary processes. Deserts constitute one of the world's most widespread biomes and exhibit a striking heterogeneity of microhabitats, yet few landscape genetics studies have been performed with rodents in deserts. We evaluated the relationship between landscape and functional connectivity, at a microgeographic scale, of the Nelson's pocket mouse Chaetodipus nelsoni in the Mapimí Biosphere Reserve (Chihuahuan desert). We used single-nucleotide polymorphisms and characterized the landscape based on on-site environmental data and from Landsat satellite images. We identified two distinct genetic clusters shaped by elevation, vegetation and soil. High elevation group showed higher connectivity in the elevated zones (1250-1350 m), with scarce vegetation and predominantly rocky soils; whereas that of Low elevation group was at <1200 m, with denser vegetation and sandy soils. These genetic patterns are likely associated with the species' locomotion type, feeding strategy and building of burrows. Interestingly, we also identified morphological differences, where hind foot size was significantly smaller in individuals from High elevation compared to Low elevation, suggesting the possibility of ecomorphs associated with habitat differences and potential local adaptation processes, which should be explored further. These findings improve our understanding of the genetics and ecology of C. nelsoni and other desert rodents.

阐明驱动自然种群遗传模式的因素是进化生物学、生态学和自然保护的关键。因此,了解环境特征在物种遗传多样性和结构中所起的作用至关重要。景观遗传学测量功能连接性,评估景观组成、构造和异质性对微观进化过程的影响。沙漠是世界上分布最广的生物群落之一,其微生境具有显著的异质性,但很少有人对沙漠中的啮齿动物进行景观遗传学研究。我们评估了马皮米生物圈保护区(奇瓦瓦沙漠)纳尔逊袋鼠 Chaetodipus nelsoni 在微地理尺度上的景观与功能连通性之间的关系。我们使用了单核苷酸多态性,并根据现场环境数据和 Landsat 卫星图像确定了地貌特征。我们根据海拔、植被和土壤确定了两个不同的基因群。高海拔组在海拔较高(1250-1350 米)、植被稀少、以岩石土壤为主的区域表现出较高的连通性;而低海拔组在海拔较低(1250-1350 米)、植被稀少、以岩石土壤为主的区域表现出较高的连通性。
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引用次数: 0
Correction: Stem cell transcriptional profiles from mouse subspecies reveal cis-regulatory evolution at translation genes 更正:小鼠亚种的干细胞转录图谱揭示了翻译基因的顺式调控进化。
IF 3.1 2区 生物学 Q2 ECOLOGY Pub Date : 2024-10-24 DOI: 10.1038/s41437-024-00730-0
Noah M. Simon, Yujin Kim, Joost Gribnau, Diana M. Bautista, James R. Dutton, Rachel B. Brem
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引用次数: 0
The evolution and maintenance of trioecy with cytoplasmic male sterility. 具有细胞质雄性不育性的三雄性花的进化和维持。
IF 3.1 2区 生物学 Q2 ECOLOGY Pub Date : 2024-10-14 DOI: 10.1038/s41437-024-00729-7
M T Nguyen, J R Pannell

Trioecy, the co-existence of females, males and hermaphrodites, is a rare sexual system in plants that may be an intermediate state in transitions between hermaphroditism and dioecy. Previous models have identified pollen limitation as a necessary condition for the evolution of trioecy from hermaphroditism. In these models, the seed-production and pollen production of females and males relative to those of hermaphrodites, respectively, are compromised by self-fertilization by hermaphrodites under pollen- limitation. Here, we investigate the evolution of trioecy via the invasion of cytoplasmic male sterility (CMS) into androdioecious populations in which hermaphrodites co-occur with males and where the male determiner is linked to a (partial) fertility restorer. We show that the presence of males in a population renders invasion by CMS more difficult. However, the presence of males also facilitates the maintenance of trioecy even in the absence of pollen limitation by negative frequency-dependent selection, because males reduce the transmission of CMS by females by siring sons (which cannot transmit CMS). We discuss our results in light of empirical observations of trioecy in plants and its potential role in the evolution of dioecy.

雌雄同体是植物中一种罕见的有性系统,可能是雌雄同体和雌雄异体之间过渡的中间状态。以前的模型认为,花粉限制是由雌雄同体进化为雌雄同体的必要条件。在这些模型中,相对于雌雄同体,雌性和雄性的种子生产和花粉生产分别受到花粉限制下雌雄同体自花受精的影响。在这里,我们研究了通过细胞质雄性不育(CMS)侵入雌雄同株种群而导致的三雄同株进化,在这些种群中,雌雄同体与雄性共生,雄性决定因子与(部分)生育力恢复因子相关联。我们的研究表明,种群中雄性的存在会增加 CMS 入侵的难度。然而,雄性的存在也有利于维持三雌一雄(即使在没有花粉限制的情况下)的负频率选择,因为雄性通过生子(不能传播 CMS)减少了雌性对 CMS 的传播。我们将根据对植物三雄同株的经验观察及其在雌雄同株进化中的潜在作用来讨论我们的研究结果。
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引用次数: 0
Too big to purge: persistence of deleterious Mutations in Island populations of the European Barn Owl (Tyto alba). 大到无法清除:欧洲谷仓猫头鹰(Tyto alba)岛屿种群中持续存在的有害突变。
IF 3.1 2区 生物学 Q2 ECOLOGY Pub Date : 2024-10-13 DOI: 10.1038/s41437-024-00728-8
Eléonore Lavanchy, Tristan Cumer, Alexandros Topaloudis, Anne-Lyse Ducrest, Céline Simon, Alexandre Roulin, Jérôme Goudet

A key aspect of assessing the risk of extinction/extirpation for a particular wild species or population is the status of inbreeding, but the origin of inbreeding and the current mutational load are also two crucial factors to consider when determining survival probability of a population. In this study, we used samples from 502 barn owls from continental and island populations across Europe, with the aim of quantifying and comparing the level of inbreeding between populations with differing demographic histories. In addition to comparing inbreeding status, we determined whether inbreeding is due to non-random mating or high co-ancestry within the population. We show that islands have higher levels of inbreeding than continental populations, and that this is mainly due to small effective population sizes rather than recent consanguineous mating. We assess the probability that a region is autozygous along the genome and show that this probability decreased as the number of genes present in that region increased. Finally, we looked for evidence of reduced selection efficiency and purging in island populations. Among island populations, we found an increase in numbers of both neutral and deleterious minor alleles, possibly as a result of drift and decreased selection efficiency but we found no evidence of purging.

评估特定野生物种或种群灭绝/淘汰风险的一个重要方面是近亲繁殖的状况,但近亲繁殖的起源和当前的变异负荷也是确定种群存活概率时需要考虑的两个关键因素。在这项研究中,我们使用了来自欧洲大陆和岛屿种群的502只仓鸮的样本,目的是量化和比较具有不同人口历史的种群之间的近亲繁殖水平。除了比较近亲繁殖状况外,我们还确定了近亲繁殖是由于非随机交配还是由于种群内的高度共存。我们的研究表明,岛屿的近亲繁殖水平高于大陆种群,而这主要是由于有效种群规模较小,而非最近的近亲交配造成的。我们评估了一个区域在基因组中的自交概率,结果表明,随着该区域中基因数量的增加,这种概率也在降低。最后,我们寻找了岛屿种群中选择效率降低和净化的证据。在岛屿种群中,我们发现中性小等位基因和有害小等位基因的数量都有所增加,这可能是漂移和选择效率降低的结果,但我们没有发现肃清的证据。
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引用次数: 0
Correction: Simulation of functional additive and non-additive genetic effects using statistical estimates from quantitative genetic models 更正:利用定量遗传模型的统计估算模拟功能性叠加和非叠加遗传效应。
IF 3.1 2区 生物学 Q2 ECOLOGY Pub Date : 2024-10-10 DOI: 10.1038/s41437-024-00725-x
Thinh Tuan Chu, Peter Skov Kristensen, Just Jensen
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引用次数: 0
Support for Y-compensation of mother's curse affecting lifespan in Drosophila melanogaster. 黑腹果蝇中影响寿命的母亲诅咒的 Y 补偿支持。
IF 3.1 2区 生物学 Q2 ECOLOGY Pub Date : 2024-10-05 DOI: 10.1038/s41437-024-00726-w
Tobias Møgelvang Nielsen, Jaden Baldwin, Megan Danis, Kenneth M Fedorka

Mother's curse refers to male-biased deleterious mutations that may accumulate on mitochondria due to its strict maternal inheritance. If these mutations persist, males should ideally compensate through mutations on Y-chromosomes given its strict paternal inheritance. Previous work addressed this hypothesis by comparing coevolved and non-coevolved Y-mitochondria pairs placed alongside completely foreign autosomal backgrounds, expecting males with coevolved pairs to exhibit greater fitness due to Y-compensation. To date, no evidence for Y-compensation has been found. That experimental design assumes Y-chromosomes compensate via direct interaction with mitochondria and/or coevolved autosomes are unimportant in its function or elucidation. If Y-chromosomes instead compensate by modifying autosomal targets (or its elucidation requires coevolved autosomes), then this design could fail to detect Y-compensation. Here we address if Y-chromosomes ameliorate mitochondrial mutations affecting male lifespan in Drosophila melanogaster. Using three disparate populations we compared lifespan among males with coevolved and non-coevolved Y-mitochondria pairs placed alongside autosomal backgrounds coevolved with mitochondria. We found coevolved pairs exhibited lower mortality risk relative to non-coevolved pairs. In contrast, no such pattern was observed when coevolved and non-coevolved pairs were placed alongside non-coevolved autosomes, as with previous studies. These data are consistent with Y-compensation and highlight the importance of autosomes in this capacity. However, we cannot fully exclude the possibility that Y-autosomal coevolution independent of mitochondrial mutations contributed to our results. Regardless, modern practices in medicine, conservation, and agriculture that introduce foreign Y-chromosomes into non-coevolved backgrounds should be used with caution, as they may disrupt Y-autosome coadaptation and/or inadvertently unbridle mother's curse.

母亲的诅咒指的是由于线粒体严格的母系遗传而可能在线粒体上积累的偏向男性的有害突变。如果这些突变持续存在,鉴于Y染色体严格的父系遗传,男性最好通过Y染色体上的突变进行补偿。以前的研究通过比较共同进化和非共同进化的 Y 线粒体配对与完全外来的常染色体背景,预期共同进化配对的雄性个体会因 Y 补偿而表现出更强的适应性,从而解决了这一假设。迄今为止,尚未发现 Y 补偿的证据。这种实验设计假设 Y 染色体通过与线粒体和/或共同进化的常染色体的直接相互作用进行补偿,但这对其功能或阐明并不重要。如果 Y 染色体是通过改变常染色体靶标来进行补偿(或其阐明需要共同进化的常染色体),那么这种设计可能无法检测到 Y 补偿。在这里,我们探讨了 Y 染色体是否能改善影响黑腹果蝇雄性寿命的线粒体突变。我们利用三个不同的种群,比较了与线粒体共同进化的常染色体背景同时存在的Y-线粒体配对与非共同进化的Y-线粒体配对的雄性果蝇的寿命。我们发现,与非共同进化的配对相比,共同进化的配对表现出较低的死亡风险。相比之下,将共同进化和非共同进化的基因对与非共同进化的常染色体放在一起时,则没有观察到这种模式,这与之前的研究相同。这些数据与 Y 补偿一致,并突出了常染色体在这一能力中的重要性。但是,我们不能完全排除线粒体突变之外的 Y 常染色体共同进化对我们的研究结果产生影响的可能性。无论如何,将外来 Y 染色体引入非共同进化背景的现代医学、保护和农业实践应谨慎使用,因为它们可能会破坏 Y-常染色体共同适应和/或无意中解除母亲的诅咒。
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引用次数: 0
Chromosomal aberrations and early mortality in a non-mammalian vertebrate: example from pressure-induced triploid Atlantic salmon. 非哺乳类脊椎动物的染色体畸变和早期死亡:以压力诱导的三倍体大西洋鲑为例。
IF 3.1 2区 生物学 Q2 ECOLOGY Pub Date : 2024-10-05 DOI: 10.1038/s41437-024-00727-9
Aurélien Delaval, Kevin A Glover, Monica F Solberg, Per Gunnar Fjelldal, Tom Hansen, Alison C Harvey

In commercial aquaculture, the production of triploid fish is currently the most practical approach to prevent maturation and farm-to-wild introgression following escapes. However, triploids often exhibit poor welfare, and the underlying mechanisms remain unclear. Inheritance issues associated with sub-optimal hydrostatic pressure treatments used to induce triploidy, or the genetic background of parental fish, have been speculated to contribute. We tested this by quantifying the frequency and type of chromosomal aberrations in Atlantic salmon subjected to a gradient of sub-optimal pressure treatments (Experiment 1) and from multiple mothers (Experiment 2). From these experiments, we genotyped a subsample of ~900 eyed eggs and all ~3300 surviving parr across ~20 microsatellites. In contrast to the low frequency of chromosomal aberrations in the diploid (no hydrostatic pressure) and triploid (full 9500 PSI treatment) controls, eyed eggs subjected to sub-optimal pressure treatments (6500-8500 PSI) had a higher incidence of chromosomal aberrations such as aneuploidy and uniparental disomy, corresponding to lower triploidization success and higher egg mortality rates. We also observed maternal effects on triploidization success and incidence of chromosomal aberrations, with certain half-sibling families exhibiting more aberrations than others. Chromosomal aberrations were rare among surviving parr, suggesting a purge of maladapted individuals during early development. This study demonstrates that sub-optimal hydrostatic pressure treatments and maternal effects not only influence the success of triploidization treatments, but may also affect the incidence of chromosomal aberrations and early mortality. The results have important implications for aquaculture breeding programs and their efforts to prevent farm-to-wild introgression.

在商业水产养殖中,生产三倍体鱼是目前最实用的方法,可防止鱼类成熟和逃逸后从养殖场向野外引种。然而,三倍体鱼的福利往往很差,其根本机制仍不清楚。据推测,与诱导三倍体的次优静水压处理相关的遗传问题或亲鱼的遗传背景都是原因之一。我们通过量化经过梯度次优压力处理(实验 1)和来自多个母本(实验 2)的大西洋鲑染色体畸变的频率和类型来验证这一推测。在这些实验中,我们对约 900 个有眼卵的子样本和所有约 3300 个存活的小鲤鱼进行了约 20 个微卫星的基因分型。与二倍体(无静水压)和三倍体(9500 PSI 处理)对照组染色体畸变频率较低形成对比的是,接受次优压力处理(6500-8500 PSI)的有眼卵染色体畸变(如非整倍体和单亲裂殖)发生率较高,这与较低的三倍体化成功率和较高的卵死亡率相对应。我们还观察到母本对三倍体化成功率和染色体畸变发生率的影响,某些半同胞家庭比其他家庭表现出更多的畸变。染色体畸变在存活的小鱼中很少见,这表明在早期发育过程中,适应不良的个体被清除了。这项研究表明,次优静水压处理和母体效应不仅会影响三倍体化处理的成功率,还可能影响染色体畸变的发生率和早期死亡率。这些结果对水产养殖育种计划及其防止从养殖到野外引种的努力具有重要意义。
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引用次数: 0
Analysing the pedigree to identify undesirable losses of genetic diversity and to prioritize management decisions in captive breeding: a case study 在人工繁殖中分析血统以确定遗传多样性的不良损失和管理决策的优先次序:案例研究
IF 3.8 2区 生物学 Q2 ECOLOGY Pub Date : 2024-09-17 DOI: 10.1038/s41437-024-00723-z
Eulalia Moreno, Isabel Cervantes, Juan Pablo Gutiérrez, Iván Fernández, Félix Goyache

When prevention of species extinction is the priority, captive breeding is a key component in conservation programmes, allowing the recording of pedigree information in studbooks. The genealogical information registered in Cuvier’s gazelle studbook between 1975 and 2023 was analysed to (a) assess if the implemented mating policy was successful in preserving the genetic background of the founders (1 male:3 females) in the present population, and b) improve future management and breeding decisions. Although the maternal contribution of one founder female was lost and the mean inbreeding of the total live population was high (0.305 ± 0.095), the breeding policy applied produced better results than expected from a population starting from four founders. It was successful in keeping the individual increase in inbreeding low (0.047 ± 0.021), and, notably, the inbreeding tended to decrease during the last three decades of the breeding programme, ensuring the viability of this highly inbred population. Historical dissemination of individuals among the zoos of Europe and North America caused population structuring and genetic differentiation of the live North American population. However, it did not risk the viability of the captive population. The average relatedness coefficients allowed the identification of individuals with underrepresented genotypes, which is relevant to plan future mating guidelines to keep the founders’ representation balanced in the next generations. This study highlights the importance of keeping long-term pedigree information to monitor changes in the genetic diversity of captive populations, which is crucial to implement optimal mating decisions and assuring their long-term viability within an ex situ conservation programme.

当防止物种灭绝成为首要任务时,人工繁殖是保护计划的关键组成部分,可以将血统信息记录在种马手册中。我们分析了 1975 年至 2023 年期间库维尔瞪羚种马手册中登记的系谱信息,以(a)评估所实施的交配政策是否成功地保留了当前种群中创始者(1 雄 3 雌)的遗传背景,以及(b)改进未来的管理和育种决策。虽然失去了一个创始雌性的母性贡献,而且整个活种群的平均近亲繁殖率较高(0.305 ± 0.095),但从四个创始雌性开始的种群来看,所采用的育种政策取得了比预期更好的结果。该育种政策成功地将近亲繁殖的个体增长率保持在较低水平(0.047 ± 0.021),而且值得注意的是,在育种计划的最后三十年中,近亲繁殖呈下降趋势,确保了这一高度近亲繁殖种群的生存能力。欧洲和北美动物园之间的个体传播历史造成了北美活体种群的结构和遗传分化。不过,这并没有危及圈养种群的生存能力。通过平均亲缘关系系数,可以识别出基因型代表性不足的个体,这对于规划未来的交配准则,以保持始祖鸟在下一代中的代表性平衡具有重要意义。这项研究强调了保存长期血统信息以监测人工饲养种群遗传多样性变化的重要性,这对于在异地保护计划中实施最佳交配决策和确保其长期生存能力至关重要。
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引用次数: 0
The genome sequence of the Violet Carpenter Bee, Xylocopa violacea (Linnaeus, 1785): a hymenopteran species undergoing range expansion 紫木匠蜂(Xylocopa violacea,林尼厄斯,1785 年)的基因组序列:一个正在扩大范围的膜翅目物种
IF 3.8 2区 生物学 Q2 ECOLOGY Pub Date : 2024-09-16 DOI: 10.1038/s41437-024-00720-2
Will J. Nash, Angela Man, Seanna McTaggart, Kendall Baker, Tom Barker, Leah Catchpole, Alex Durrant, Karim Gharbi, Naomi Irish, Gemy Kaithakottil, Debby Ku, Aaliyah Providence, Felix Shaw, David Swarbreck, Chris Watkins, Ann M. McCartney, Giulio Formenti, Alice Mouton, Noel Vella, Björn M. von Reumont, Adriana Vella, Wilfried Haerty

We present a reference genome assembly from an individual male Violet Carpenter Bee (Xylocopa violacea, Linnaeus 1758). The assembly is 1.02 gigabases in span. 48% of the assembly is scaffolded into 17 pseudo-chromosomal units. The mitochondrial genome has also been assembled and is 21.8 kilobases in length. The genome is highly repetitive, likely representing a highly heterochromatic architecture expected of bees from the genus Xylocopa. We also use an evidence-based methodology to annotate 10,152 high confidence coding genes. This genome was sequenced as part of the pilot project of the European Reference Genome Atlas (ERGA) and represents an important addition to the genomic resources available for Hymenoptera.

我们展示了一个来自雄性紫木匠蜂(Xylocopa violacea, Linnaeus 1758)个体的参考基因组组装。该基因组的跨度为 1.02 千亿字节。48%的基因组组装为 17 个假染色体单元。线粒体基因组也已组装完成,长度为 21.8 千碱基。该基因组具有高度重复性,可能代表了 Xylocopa 属蜜蜂的高度异染色体结构。我们还使用基于证据的方法注释了 10,152 个高置信度编码基因。该基因组的测序是欧洲参考基因组图谱(ERGA)试点项目的一部分,是对膜翅目昆虫基因组资源的重要补充。
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引用次数: 0
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