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Mutation potentiates migration swamping in polygenic local adaptation. 突变会加剧多基因局部适应中的迁移沼泽化。
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-12 DOI: 10.1093/genetics/iyae165
Takahiro Sakamoto, James R Whiting, Samuel Yeaman

Locally adapted traits can exhibit a wide range of genetic architectures, from pronounced divergence at a few loci to small frequency divergence at many loci. The type of architecture that evolves depends strongly on the migration rate, as weakly selected loci experience swamping and do not make lasting contributions to divergence. Simulations from previous studies showed that even when mutations are strongly selected and should resist migration swamping, the architecture of adaptation can collapse and become transient at high mutation rates. Here, we use an analytical two-population model to study how this transition in genetic architecture depends upon population size, strength of selection, and parameters describing the mutation process. To do this, we develop a mathematical theory based on the diffusion approximation to predict the threshold mutation rate above which the transition occurs. We find that this performs well across a wide range of parameter space, based on comparisons with individual-based simulations. The threshold mutation rate depends most strongly on the average effect size of mutations, weakly on the strength of selection, and marginally on the population size. Across a wide range of the parameter space, we observe that the transition to a transient architecture occurs when the trait-wide mutation rate is 10-3-10-2, suggesting that this phenomenon is potentially relevant to complex traits with a large mutational target. On the other hand, based on the apparent stability of genetic architecture in many classic examples of local adaptation, our theory suggests that per-trait mutation rates are often relatively low.

适应当地的性状可以表现出广泛的遗传结构,从几个位点的明显分化到许多位点的小频率分化。遗传结构的演化类型在很大程度上取决于迁移率,因为弱选择位点会被淹没,不会对分化做出持久的贡献。以往研究的模拟结果表明,即使突变是强选择的,应该能抵御迁移沼泽化,但在高突变率下,适应结构也会崩溃并变得短暂。在这里,我们使用一个分析性双种群模型来研究遗传结构的这种转变如何取决于种群规模、选择强度和描述突变过程的参数。为此,我们开发了一种基于扩散近似的数学理论来预测突变率的阈值,当突变率超过该阈值时,就会发生转变。通过与基于个体的模拟进行比较,我们发现该理论在广泛的参数空间内表现良好。阈值突变率对突变平均效应大小的依赖性最强,对选择强度的依赖性较弱,对种群数量的依赖性较小。在广泛的参数空间范围内,我们观察到,当整个性状的突变率为 10-3-10-2 时,就会发生向瞬变结构的过渡,这表明这一现象可能与突变目标较大的复杂性状有关。另一方面,根据许多典型的局部适应实例中遗传结构的明显稳定性,我们的理论认为每个性状的突变率通常相对较低。
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引用次数: 0
A Dominance Hypothesis Argument for Historical Genetic Gains and the Fixation of Heterosis in Octoploid Strawberry. 八倍体草莓历史遗传增益和杂交固定的优势假说论证
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-10 DOI: 10.1093/genetics/iyae159
Mitchell J Feldmann, Dominique D A Pincot, Danelle K Seymour, Randi A Famula, Nicolás P Jiménez, Cindy M López, Glenn S Cole, Steven J Knapp

Heterosis was the catalyst for the domestication of cultivated strawberry (Fragaria × ananassa), an interspecific hybrid species that originated in the 1700s. The hybrid origin was discovered because the phenotypes of spontaneous hybrids transgressed those of their parent species. The transgressions included fruit yield increases and other genetic gains in the twentieth century that sparked the global expansion of strawberry production. The importance of heterosis to the agricultural success of the hybrid species, however, has remained a mystery. Here we show that heterosis has disappeared (become fixed) among improved hybrids within a population (the California population) that has been under long-term selection for increased fruit yield, weight, and firmness. We found that the highest yielding hybrids are among the most highly inbred (59-79%), which seems counterintuitive for a highly heterozygous, outbreeder carrying heavy genetic loads. Although faint remnants of heterosis were discovered, the between-parent allele frequency differences and dispersed favorable dominant alleles necessary for heterosis have decreased nearly genome-wide within the California population. Conversely, heterosis was prevalent and significant among wide hybrids, especially for fruit count, a significant driver of genetic gains for fruit yield. We attributed the disappearance (fixation) of heterosis within the California population to increased homozygosity of favorable dominant alleles and inbreeding associated with selection, random genetic drift, and selective sweeps. Despite historical inbreeding, the highest yielding hybrids reported to-date are estimated to be heterozygous for 20,370-44,280 of 97,000-108,000 genes in the octoploid genome, the equivalent of an entire diploid genome or more.

杂交是栽培草莓(Fragaria × ananassa)驯化的催化剂,草莓是起源于 1700 年代的种间杂交品种。杂交起源之所以被发现,是因为自发杂交种的表型超越了其亲本物种的表型。这种杂交包括在二十世纪增加果实产量和其他遗传收益,从而引发了草莓生产的全球扩张。然而,杂交对杂交种在农业上取得成功的重要性一直是个谜。在这里,我们表明,在一个为提高果实产量、重量和硬度而进行长期选育的种群(加利福尼亚种群)中,改良杂交种的异质性已经消失(固定)。我们发现,产量最高的杂交种属于近交程度最高的杂交种(59-79%),这对于一个杂合度高、遗传负荷重的外交种来说似乎有悖常理。虽然发现了微弱的杂交残余,但在加利福尼亚种群中,杂交所需的亲本间等位基因频率差异和分散的有利显性等位基因几乎在全基因组范围内都有所减少。与此相反,在宽幅杂交种中,异交现象普遍且显著,尤其是在果实数量方面,这是果实产量遗传增益的重要驱动因素。我们认为,加利福尼亚种群中异质性的消失(固定化)是由于有利的显性等位基因的同源性增加,以及与选择、随机遗传漂移和选择性横扫相关的近亲繁殖造成的。尽管近亲繁殖历史悠久,但迄今报道的最高产量杂交种估计在八倍体基因组的 97,000-108,000 个基因中具有 20,370-44,280 个杂合基因,相当于整个二倍体基因组或更多。
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引用次数: 0
Location of polyadenylation sites within 3' untranslated regions is linked to biological function in yeast. 多腺苷酸化位点在 3' 非翻译区内的位置与酵母的生物功能有关。
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-09 DOI: 10.1093/genetics/iyae163
Joseph V Geisberg, Zarmik Moqtaderi, Kevin Struhl

Expression of a typical yeast gene results in ∼50 3' mRNA isoforms that are distinguished by the locations of poly(A) sites within the 3' untranslated regions (3' UTRs). The location of poly(A) sites with respect to the translational termination codon varies considerably among genes, but whether this has any functional significance is poorly understood. Using hierarchical clustering of 3' UTRs, we identify eight classes of S. cerevisiae genes based on their poly(A) site locations. Genes involved in related biological functions (GO categories) are uniquely over-represented in six of these classes. Similar analysis of S. pombe genes reveals three classes of 3' UTRs, all of which show over-representation of functionally related genes. Remarkably, S. cerevisiae and S. pombe homologs share related patterns of poly(A) site locations. These observations suggest that the location of poly(A) sites within 3' UTRs has biological significance.

一个典型的酵母基因表达后会产生 50 个 3' mRNA 异构体,这些异构体是根据 3' 非翻译区(3' UTR)中多聚(A)位点的位置来区分的。多聚(A)位点相对于翻译终止密码子的位置在不同基因之间有很大差异,但这是否具有任何功能意义却鲜为人知。通过对 3' UTR 进行分层聚类,我们根据多聚(A)位点的位置确定了八类 S. cerevisiae 基因。参与相关生物功能(GO 类别)的基因在其中六类基因中具有独特的高代表性。对 S. pombe 基因的类似分析显示,3' UTR 有三个类别,所有这些类别都显示出功能相关基因的过度代表性。值得注意的是,S. cerevisiae 和 S. pombe 同源物的 poly(A) 位点位置具有相关的模式。这些观察结果表明,3' UTR 中 poly(A) 位点的位置具有生物学意义。
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引用次数: 0
Comparative analysis of new mScarlet-based red fluorescent tags in Caenorhabditis elegans. 基于 mScarlet 的新型红色荧光标记在秀丽隐杆线虫中的比较分析。
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-07 DOI: 10.1093/genetics/iyae126
Wen Xi Cao, Daniel M Merritt, Karinna Pe, Michael Cesar, Oliver Hobert

One problem that has hampered the use of red fluorescent proteins in the fast-developing nematode Caenorhabditis elegans has been the substantial time delay in maturation of several generations of red fluorophores. The recently described mScarlet-I3 protein has properties that may overcome this limitation. We compare here the brightness and onset of expression of CRISPR/Cas9 genome-engineered mScarlet, mScarlet3, mScarlet-I3, and GFP reporter knock-ins. Comparing the onset and brightness of expression of reporter alleles of C. elegans golg-4, encoding a broadly expressed Golgi resident protein, we found that the onset of detection of mScarlet-I3 in the embryo is several hours earlier than older versions of mScarlet and comparable to GFP. These findings were further supported by comparing mScarlet-I3 and GFP reporter alleles for pks-1, a gene expressed in the CAN neuron and cells of the alimentary system, as well as reporter alleles for the pan-neuronal, nuclear marker unc-75. Hence, the relative properties of mScarlet-I3 and GFP do not depend on cellular or subcellular context. In all cases, mScarlet-I3 reporters also show improved signal-to-noise ratio compared to GFP.

阻碍红色荧光蛋白在快速发育的线虫秀丽隐杆线虫中使用的一个问题是,几代红色荧光团的成熟会有很大的时间延迟。最近描述的 mScarlet-I3 蛋白具有可能克服这一限制的特性。我们在此比较了 CRISPR/Cas9 基因组工程改造的 mScarlet、mScarlet3、mScarlet-I3 和 GFP 报告基因的亮度和表达起始时间。我们比较了编码一种广泛表达的高尔基体常驻蛋白的高尔基体-4(C. elegans golg-4)等位基因的表达起始时间和亮度,发现胚胎中 mScarlet-I3 的检测起始时间比老版本的 mScarlet 早几个小时,与 GFP 相当。通过比较 mScarlet-I3 和在 CAN 神经元和消化系统细胞中表达的 pks-1 基因的 GFP 报告等位基因,以及泛神经元核标记 unc-75 的报告等位基因,我们进一步证实了这些发现。因此,mScarlet-I3 和 GFP 的相对特性并不取决于细胞或亚细胞环境。在所有情况下,与 GFP 相比,mScarlet-I3 报告还显示出更高的信噪比。
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引用次数: 0
Adapting and optimizing GCaMP8f for use in Caenorhabditis elegans. 调整和优化 GCaMP8f,使其用于秀丽隐杆线虫。
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-07 DOI: 10.1093/genetics/iyae125
Jun Liu, Elsa Bonnard, Monika Scholz

Improved genetically encoded calcium indicators (GECIs) are essential for capturing intracellular dynamics of both muscle and neurons. A novel set of GECIs with ultrafast kinetics and high sensitivity was recently reported by Zhang et al. (2023). While these indicators, called jGCaMP8, were demonstrated to work in Drosophila and mice, data for Caenorhabditis elegans were not reported. Here, we present an optimized construct for C. elegans and use this to generate several strains expressing GCaMP8f (fast variant of the indicator). Utilizing the myo-2 promoter, we compare pharyngeal muscle activity measured with GCaMP7f and GCaMP8f and find that GCaMP8f is brighter upon binding to calcium, shows faster kinetics, and is not disruptive to the intrinsic contraction dynamics of the pharynx. Additionally, we validate its application for detecting neuronal activity in touch receptor neurons which reveals robust calcium transients even at small stimulus amplitudes. As such, we establish GCaMP8f as a potent tool for C. elegans research which is capable of extracting fast calcium dynamics at very low magnifications across multiple cell types.

改进的基因编码钙离子指示剂(GECIs)对于捕捉肌肉和神经元的细胞内动态至关重要。Zhang 等人最近报道了一组具有超快动力学和高灵敏度的新型 GECIs(《自然》,2023 年)。这些被称为 jGCaMP8 的指标已在果蝇和小鼠中证实有效,但在秀丽隐杆线虫中的数据却未见报道。在这里,我们提出了一种针对秀丽隐杆线虫的优化构建物,并利用它生成了几种表达 GCaMP8f(指示剂的快速变体)的品系。利用 myo-2 启动子,我们比较了用 GCaMP7f 和 GCaMP8f 测得的咽部肌肉活动,发现 GCaMP8f 在与钙结合时更亮,显示出更快的动力学,而且不会破坏咽部的内在收缩动力学。此外,我们还验证了 GCaMP8f 在检测触觉受体神经元活动中的应用,即使在刺激幅度较小的情况下也能显示出强大的钙瞬态。因此,我们将 GCaMP8f 确立为 elegans 研究的有效工具,它能够以极低的放大倍数提取多种细胞类型的快速钙动态。
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引用次数: 0
Neurogenesis in Caenorhabditis elegans. 秀丽隐杆线虫的神经发生
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-07 DOI: 10.1093/genetics/iyae116
Richard J Poole, Nuria Flames, Luisa Cochella

Animals rely on their nervous systems to process sensory inputs, integrate these with internal signals, and produce behavioral outputs. This is enabled by the highly specialized morphologies and functions of neurons. Neuronal cells share multiple structural and physiological features, but they also come in a large diversity of types or classes that give the nervous system its broad range of functions and plasticity. This diversity, first recognized over a century ago, spurred classification efforts based on morphology, function, and molecular criteria. Caenorhabditis elegans, with its precisely mapped nervous system at the anatomical level, an extensive molecular description of most of its neurons, and its genetic amenability, has been a prime model for understanding how neurons develop and diversify at a mechanistic level. Here, we review the gene regulatory mechanisms driving neurogenesis and the diversification of neuron classes and subclasses in C. elegans. We discuss our current understanding of the specification of neuronal progenitors and their differentiation in terms of the transcription factors involved and ensuing changes in gene expression and chromatin landscape. The central theme that has emerged is that the identity of a neuron is defined by modules of gene batteries that are under control of parallel yet interconnected regulatory mechanisms. We focus on how, to achieve these terminal identities, cells integrate information along their developmental lineages. Moreover, we discuss how neurons are diversified postembryonically in a time-, genetic sex-, and activity-dependent manner. Finally, we discuss how the understanding of neuronal development can provide insights into the evolution of neuronal diversity.

动物依靠神经系统处理感官输入,将其与内部信号整合,并产生行为输出。神经元高度特化的形态和功能使其得以实现。神经元细胞具有多种结构和生理特征,但它们的类型或类别也多种多样,从而赋予了神经系统广泛的功能和可塑性。这种多样性在一个多世纪前首次被认识到,并激发了基于形态、功能和分子标准的分类工作。秀丽隐杆线虫在解剖学水平上精确地描绘了神经系统,对其大部分神经元进行了广泛的分子描述,并且具有遗传适应性,因此一直是在机理水平上了解神经元如何发育和多样化的主要模型。在这里,我们回顾了驱动神经发生的基因调控机制,以及秀丽隐杆线虫神经元类别和亚类的多样化。我们从所涉及的转录因子以及随之而来的基因表达和染色质景观变化的角度,讨论了我们目前对神经元祖细胞的规格化及其分化的理解。已经出现的中心主题是,神经元的特征是由基因组模块定义的,这些模块受到平行但相互关联的调控机制的控制。我们将重点放在细胞如何沿着其发育路线整合信息,以实现这些终端特性。此外,我们还讨论了神经元如何在胚后以时间、遗传性别和活动依赖的方式实现多样化。最后,我们将讨论对神经元发育的了解如何为神经元多样性的进化提供启示。
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引用次数: 0
Tdh3 and Rom2 are functional modulators of a conserved condensate-resident RNA-binding protein, Scd6, in Saccharomyces cerevisiae. Tdh3和Rom2是酿酒酵母中一种保守的凝结常驻RNA结合蛋白Scd6的功能调节剂。
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-07 DOI: 10.1093/genetics/iyae127
Chitra Togra, Riya Dhage, Purusharth I Rajyaguru

Arginine-glycine-glycine motif proteins play a crucial role in determining mRNA fate. Suppressor of clathrin deficiency 6 (Scd6) is a conserved arginine-glycine-glycine motif containing ribonucleoprotein (RNP) condensate-resident, translation repressor, and decapping activator protein in Saccharomyces cerevisiae. Identifying protein factors that can modulate Scd6 function is critical to understanding the regulation of mRNA fate by Scd6. In this study, using an approach that combined mRNA tethering assay with flow cytometry, we screened 50 genes for their role in modulating the translation repression activity of Scd6. We identified 8 conserved modulators with human homologs. Of these, we further characterized in detail guanine nucleotide exchange factor Rho1 multicopy suppressor 2 (Rom2) and glycolytic enzyme triose phosphate dehydrogenase 3 (Tdh3), which, respectively, impede and promote translation repression activity of Scd6. Our study reveals that Rom2 negatively regulates the arginine methylation of Scd6 and antagonizes its localization to P-bodies. Tdh3, on the other hand, promotes Scd6 interaction with Hmt1, thereby promoting the arginine methylation of Scd6 and enhanced eIF4G1 interaction, which is known to promote its repression activity. Identifying these novel modulators provides exciting new insights into the role of a metabolic enzyme of the glycolytic pathway and guanine nucleotide exchange factor implicated in the cell wall integrity pathway in regulating Scd6 function and, thereby, cytoplasmic mRNA fate.

RGG-motif 蛋白在决定 mRNA 的命运方面起着至关重要的作用。抑制凝集素缺乏症 6(Scd6)是一种保守的 RGG-motif,在酿酒酵母中含有 RNP 冷凝驻留蛋白、翻译抑制蛋白和脱帽激活蛋白。鉴定能调节 Scd6 功能的蛋白因子对于了解 Scd6 对 mRNA 转归的调控至关重要。在这项研究中,我们采用了一种结合 mRNA 拴系测定和流式细胞术的方法,筛选了 50 个基因,以确定它们在调节 Scd6 翻译抑制活性中的作用。我们发现了 8 个与人类同源的保守调节因子。其中,我们进一步详细分析了鸟嘌呤核苷酸交换因子(GEF)Rom2(Rho1多拷贝抑制因子)和糖酵解酶Tdh3(磷酸三糖脱氢酶3),它们分别阻碍和促进了Scd6的翻译抑制活性。我们的研究发现,Rom2 负向调节 Scd6 的精氨酸甲基化,并拮抗其在 P 体内的定位。另一方面,Tdh3 可促进 Scd6 与 Hmt1 的相互作用,从而促进 Scd6 的精氨酸甲基化并增强 eIF4G1 的相互作用,众所周知,eIF4G1 可促进 Scd6 的翻译抑制活性。这些新型调节因子的发现为我们提供了令人兴奋的新见解,让我们了解糖酵解途径中的一种代谢酶和细胞壁完整性途径中的鸟嘌呤核苷酸交换因子在调节 Scd6 功能以及细胞质 mRNA 命运中的作用。
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引用次数: 0
Direct inference of the distribution of fitness effects of spontaneous mutations from recombinant inbred Caenorhabditis elegans mutation accumulation lines. 从重组近交系秀丽隐杆线虫突变积累品系中直接推断自发突变的适应效应分布。
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-07 DOI: 10.1093/genetics/iyae136
Timothy A Crombie, Moein Rajaei, Ayush Shekhar Saxena, Lindsay M Johnson, Sayran Saber, Robyn E Tanny, José Miguel Ponciano, Erik C Andersen, Juannan Zhou, Charles F Baer

The distribution of fitness effects of new mutations plays a central role in evolutionary biology. Estimates of the distribution of fitness effect from experimental mutation accumulation lines are compromised by the complete linkage disequilibrium between mutations in different lines. To reduce the linkage disequilibrium, we constructed 2 sets of recombinant inbred lines from a cross of 2 Caenorhabditis elegans mutation accumulation lines. One set of lines ("RIAILs") was intercrossed for 10 generations prior to 10 generations of selfing; the second set of lines ("RILs") omitted the intercrossing. Residual linkage disequilibrium in the RIAILs is much less than in the RILs, which affects the inferred distribution of fitness effect when the sets of lines are analyzed separately. The best-fit model estimated from all lines (RIAILs + RILs) infers a large fraction of mutations with positive effects (∼40%); models that constrain mutations to have negative effects fit much worse. The conclusion is the same using only the RILs. For the RIAILs, however, models that constrain mutations to have negative effects fit nearly as well as models that allow positive effects. When mutations in high linkage disequilibrium are pooled into haplotypes, the inferred distribution of fitness effect becomes increasingly negative-skewed and leptokurtic. We conclude that the conventional wisdom-most mutations have effects near 0, a handful of mutations have effects that are substantially negative, and mutations with positive effects are very rare-is likely correct, and that unless it can be shown otherwise, estimates of the distribution of fitness effect that infer a substantial fraction of mutations with positive effects are likely confounded by linkage disequilibrium.

新突变的适应性效应分布(DFE)在生物进化中起着核心作用。由于不同品系的突变之间存在完全的连锁不平衡(LD),因此实验性突变累积(MA)品系对适存效应分布的估计受到了影响。为了降低 LD,我们从两个秀丽隐杆线虫 MA 株系杂交构建了两组重组近交系。其中一组品系("RIAILs")在自交十代之前进行了十代杂交;第二组品系("RILs")则省略了杂交。RIAILs 中的残余 LD 远远小于 RILs 中的残余 LD,这影响了分别分析这两组品系时推断的 DFE。根据所有品系(RIAILs + RILs)估计的最佳拟合模型推断出了很大一部分具有正效应的突变(∼40%);限制突变具有负效应的模型的拟合效果要差得多。仅用 RILs 得出的结论是一样的。然而,对于 RIAILs,限制突变具有负效应的模型的拟合效果几乎与允许正效应的模型一样好。当高LD突变被汇集到单倍型中时,推断出的DFE变得越来越负偏和左旋。我们的结论是,传统的观点--大多数突变的效应接近于零,少数突变的效应基本上是负的,而具有正效应的突变非常罕见--很可能是正确的,除非能够证明不是这样,否则推断出相当一部分突变具有正效应的 DFE 估计值很可能受到 LD 的干扰。
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引用次数: 0
The geometry of admixture in population genetics: the blessing of dimensionality. 人口遗传学中的掺杂几何:维度之福。
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-07 DOI: 10.1093/genetics/iyae134
José-Angel Oteo, Gonzalo Oteo-García

We present a geometry-based interpretation of the f-statistics framework, commonly used in population genetics to estimate phylogenetic relationships from genomic data. The focus is on the determination of the mixing coefficients in population admixture events subject to post-admixture drift. The interpretation takes advantage of the high dimension of the dataset and analyzes the problem as a dimensional reduction issue. We show that it is possible to think of the f-statistics technique as an implicit transformation of the genomic data from a phase space into a subspace where the mapped data structure is more similar to the ancestral admixture configuration. The 2-way mixing coefficient is, as a matter of fact, carried out implicitly in this subspace. In addition, we propose the admixture test to be evaluated in the subspace because the comparison with the conventional one provides an important assessment of the admixture model. The overarching geometric framework provides slightly more general formulas than the f-formalism by using a different rationale as a starting point. Explicitly addressed are 2- and 3-way admixtures. The mixture proportions are provided by suitable linear fits, in 2 or 3 dimensions, that can be easily visualized. The difficulties encountered with introgression and gene flow are also addressed. The developments and findings are illustrated with numerical simulations and real-world cases.

我们介绍了基于几何学的 f 统计框架的解释,该框架常用于群体遗传学,通过基因组数据估计系统发育关系。重点是确定受混杂后漂移影响的种群混杂事件中的混杂系数。解释利用了数据集的高维度,并将问题作为降维问题进行分析。我们证明,可以将 f 统计技术视为基因组数据从相空间到子空间的隐式转换,在子空间中,映射的数据结构与祖先的混杂配置更为相似。事实上,双向混合系数就是在这个子空间中隐含进行的。此外,我们还建议在该子空间中评估掺杂检验,因为与传统检验的比较可对掺杂模型进行重要评估。总体几何框架以不同的原理为出发点,提供了比 f 形式主义更通用的公式。明确涉及的是双向和三向混合物。混合物的比例由合适的线性拟合提供,可以是二维的,也可以是三维的,易于可视化。此外,还讨论了在引入和基因流方面遇到的困难。研究的进展和发现通过数值模拟和实际案例进行了说明。
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引用次数: 0
Transcriptomic analysis of meiotic genes during the mitosis-to-meiosis transition in Drosophila females. 雌果蝇有丝分裂至减数分裂过渡期减数分裂基因的转录组分析
IF 3.3 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2024-10-07 DOI: 10.1093/genetics/iyae130
Ana Maria Vallés, Thomas Rubin, Nicolas Macaisne, Laurine Dal Toe, Anahi Molla-Herman, Christophe Antoniewski, Jean-René Huynh

Germline cells produce gametes, which are specialized cells essential for sexual reproduction. Germline cells first amplify through several rounds of mitosis before switching to the meiotic program, which requires specific sets of proteins for DNA recombination, chromosome pairing, and segregation. Surprisingly, we previously found that some proteins of the synaptonemal complex, a prophase I meiotic structure, are already expressed and required in the mitotic region of Drosophila females. Here, to assess if additional meiotic genes were expressed earlier than expected, we isolated mitotic and meiotic cell populations to compare their RNA content. Our transcriptomic analysis reveals that all known meiosis I genes are already expressed in the mitotic region; however, only some of them are translated. As a case study, we focused on mei-W68, the Drosophila homolog of Spo11, to assess its expression at both the mRNA and protein levels and used different mutant alleles to assay for a premeiotic function. We could not detect any functional role for Mei-W68 during homologous chromosome pairing in dividing germ cells. Our study paves the way for further functional analysis of meiotic genes expressed in the mitotic region.

生殖细胞产生配子,配子是有性生殖所必需的特化细胞。生殖细胞首先经过几轮有丝分裂扩增,然后转入减数分裂程序,该程序需要特定的蛋白质来进行DNA重组、染色体配对和分离。令人惊讶的是,我们之前发现,减数分裂前期结构--突触复合体的一些蛋白质已经在雌果蝇的有丝分裂区表达和需要。在这里,为了评估是否有更多的减数分裂基因比预期的更早表达,我们分离了有丝分裂细胞群和减数分裂细胞群,以比较它们的 RNA 含量。我们的转录组分析表明,所有已知的减数分裂 I 基因都已在有丝分裂区表达,但只有部分基因被翻译。作为一个案例研究,我们重点研究了果蝇 Spo11 的同源物 mei-W68,以评估其在 mRNA 和蛋白质水平上的表达情况,并使用不同的突变等位基因来检测其减数分裂前的功能。我们无法检测到Mei-W68在分裂生殖细胞中同源染色体配对过程中的任何功能作用。我们的研究为进一步分析在有丝分裂区表达的减数分裂基因铺平了道路。
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引用次数: 0
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Genetics
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