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A Comparative Genomics Approach to Understanding the Evolution of Olfaction in Cetaceans. 了解鲸目动物嗅觉进化的比较基因组学方法。
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-12-01 Epub Date: 2024-11-25 DOI: 10.1007/s00239-024-10217-5
April A Jauhal, Rochelle Constantine, Richard D Newcomb

Major evolutionary transitions, such as the shift of cetaceans from terrestrial to marine life, can put pressure on sensory systems to adapt to a new set of relevant stimuli. Relatively little is known about the role of smell in the evolution of mysticetes (baleen whales). While their toothed cousins, the odontocetes, lack the anatomical features to smell, it is less clear whether baleen whales have retained this sense, and if so, when the pressure on olfaction diverged in the cetacean evolutionary lineage. We examined eight genes encoding olfactory signal transduction pathway components and key chaperones for signs of inactivating mutations and selective pressures. All of the genes we examined were intact in all eight mysticete genomes examined, despite inactivating mutations in odontocete homologs in multiple genes. We also tested several models representing various hypotheses regarding the evolutionary history of olfaction in cetaceans. Our results support a model where olfactory ability is specifically reduced in the odontocete lineage following their split from stem cetaceans and serve to clarify the evolutionary history of olfaction in cetaceans.

重大的进化转变,如鲸类从陆地生活向海洋生活的转变,会给感官系统带来压力,使其必须适应一系列新的相关刺激。人们对气味在须鲸(mysticetes)进化过程中的作用知之甚少。它们的有齿近亲--齿鲸--缺乏嗅觉的解剖特征,而须鲸是否保留了这种感觉,以及如果保留了这种感觉,鲸类进化过程中嗅觉的压力是何时分化的,目前还不太清楚。我们研究了编码嗅觉信号转导通路元件和关键伴侣蛋白的八个基因,以寻找失活突变和选择性压力的迹象。我们检测的所有基因在所研究的所有八个mysticete基因组中都完好无损,尽管多个基因在odontocete同源物中发生了失活突变。我们还测试了代表鲸目动物嗅觉进化史各种假说的几个模型。我们的研究结果支持这样一种模式,即从干鲸类中分离出来之后,齿鲸的嗅觉能力特别减弱,这有助于澄清鲸目动物嗅觉的进化史。
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引用次数: 0
Survey for Activating Oncogenic Mutation Variants in Metazoan Germline Genes. 调查元古宙种系基因中的激活性致癌突变变异。
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-12-01 Epub Date: 2024-11-26 DOI: 10.1007/s00239-024-10218-4
Karl E Krueger

Most cancers present with mutations or amplifications in distinctive tumor promoter genes that activate principal cell-signaling cascades promoting cell proliferation, dedifferentiation, cell survival, and replicative immortality. Somatic mutations found in this these driver proto-oncogenes invariably result in constitutive activation of the encoded protein. A salient feature of the activating mutations observed throughout many thousands of clinical tumor specimens reveals these driver missense mutations are recurrent and restricted to just one or very few codons of the entire gene, suggesting they have been positively selected during the course of tumor development. The purpose of this study is to investigate whether these characteristic oncogenic driver mutations are observed in the germline genes of any metazoan species. Six well-known tumor promoter genes were chosen for this survey including BRAF, KRAS, JAK2, PIK3CA, EGFR, and IDH1/2. The sites of all driver mutations were found to occur in highly conserved regions of each gene comparing protein sequences throughout diverse phyla of metazoan species. None of the oncogenic missense mutations were found in germlines of any species of current genome and protein databases. Despite many tumors readily selecting these somatic mutations, the conclusion drawn from this study is that these variants are negatively rejected if encountered as a germline mutation. While cancer expansion ensues from dysregulated growth elicited by these mutations, this effect is likely detrimental to embryonic development and/or survival of multicellular organisms. Although all oncogenic mutations considered here are gain-of-function where five of the six increase activity of the encoded proteins, clonal advancement promotes tumor growth by these genomic changes without conferring selection advantages benefiting the organism or species.

大多数癌症的独特肿瘤启动子基因都会发生突变或扩增,从而激活主要的细胞信号级联,促进细胞增殖、去分化、细胞存活和复制永生。在这些驱动原癌基因中发现的体细胞突变总是会导致编码蛋白的持续激活。在数以千计的临床肿瘤标本中观察到的激活突变的一个显著特点是,这些驱动错义突变是复发性的,而且仅限于整个基因中的一个或极少数密码子,这表明它们是在肿瘤发展过程中被积极选择的。本研究的目的是调查是否在任何类人动物的种系基因中观察到这些特征性的致癌驱动突变。本研究选择了六个众所周知的肿瘤启动子基因,包括 BRAF、KRAS、JAK2、PIK3CA、EGFR 和 IDH1/2。通过比较不同类群的元动物蛋白质序列,发现所有驱动基因突变的位点都发生在每个基因的高度保守区域。在目前的基因组和蛋白质数据库中,没有在任何物种的种系中发现致癌错义突变。尽管许多肿瘤很容易选择这些体细胞突变,但本研究得出的结论是,如果这些变异作为种系突变出现,就会被否定。虽然这些突变引起的生长失调会导致癌症扩大,但这种效应很可能不利于胚胎发育和/或多细胞生物的生存。虽然本文考虑的所有致癌突变都是功能增益突变,其中六种突变中有五种会增加编码蛋白的活性,但克隆突变会通过这些基因组变化促进肿瘤生长,而不会带来有利于生物体或物种的选择优势。
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引用次数: 0
Volatile Organic Compound Metabolism on Early Earth. 早期地球上的挥发性有机化合物代谢。
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-17 DOI: 10.1007/s00239-024-10184-x
S Marshall Ledford, Laura K Meredith

Biogenic volatile organic compounds (VOCs) constitute a significant portion of gas-phase metabolites in modern ecosystems and have unique roles in moderating atmospheric oxidative capacity, solar radiation balance, and aerosol formation. It has been theorized that VOCs may account for observed geological and evolutionary phenomena during the Archaean, but the direct contribution of biology to early non-methane VOC cycling remains unexplored. Here, we provide an assessment of all potential VOCs metabolized by the last universal common ancestor (LUCA). We identify enzyme functions linked to LUCA orthologous protein groups across eight literature sources and estimate the volatility of all associated substrates to identify ancient volatile metabolites. We hone in on volatile metabolites with confirmed modern emissions that exist in conserved metabolic pathways and produce a curated list of the most likely LUCA VOCs. We introduce volatile organic metabolites associated with early life and discuss their potential influence on early carbon cycling and atmospheric chemistry.

生物挥发性有机化合物(VOCs)在现代生态系统的气相代谢物中占很大比例,在调节大气氧化能力、太阳辐射平衡和气溶胶形成方面具有独特的作用。有理论认为,挥发性有机化合物可能是在太古宙期间观察到的地质和进化现象的原因,但生物学对早期非甲烷挥发性有机化合物循环的直接贡献仍有待探索。在此,我们对最后一个普遍共同祖先(LUCA)代谢的所有潜在挥发性有机化合物进行了评估。我们从八个文献来源中找出了与 LUCA 同源蛋白质组相关的酶功能,并估算了所有相关底物的挥发性,从而找出了古老的挥发性代谢物。我们锁定了存在于保守代谢途径中、已证实有现代排放的挥发性代谢物,并制作了一份最有可能是 LUCA 挥发性有机化合物的编辑列表。我们介绍了与早期生命相关的挥发性有机代谢物,并讨论了它们对早期碳循环和大气化学的潜在影响。
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引用次数: 0
The Last Universal Common Ancestor of Ribosome-Encoding Organisms: Portrait of LUCA. 核糖体编码生物的最后一个普遍共同祖先:LUCA 的肖像
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-19 DOI: 10.1007/s00239-024-10186-9
Patrick Forterre

The existence of LUCA in the distant past is the logical consequence of the binary mechanism of cell division. The biosphere in which LUCA and contemporaries were living was the product of a long cellular evolution from the origin of life to the second age of the RNA world. A parsimonious scenario suggests that the molecular fabric of LUCA was much simpler than those of modern organisms, explaining why the evolutionary tempo was faster at the time of LUCA than it was during the diversification of the three domains. Although LUCA was possibly equipped with a RNA genome and most likely lacked an ATP synthase, it was already able to perform basic metabolic functions and to produce efficient proteins. However, the proteome of LUCA and its inferred metabolism remains to be correctly explored by in-depth phylogenomic analyses and updated datasets. LUCA was probably a mesophile or a moderate thermophile since phylogenetic analyses indicate that it lacked reverse gyrase, an enzyme systematically present in all hyperthermophiles. The debate about the position of Eukarya in the tree of life, either sister group to Archaea or descendants of Archaea, has important implications to draw the portrait of LUCA. In the second alternative, one can a priori exclude the presence of specific eukaryotic features in LUCA. In contrast, if Archaea and Eukarya are sister group, some eukaryotic features, such as the spliceosome, might have been present in LUCA and later lost in Archaea and Bacteria. The nature of the LUCA virome is another matter of debate. I suggest here that DNA viruses only originated during the diversification of the three domains from an RNA-based LUCA to explain the odd distribution pattern of DNA viruses in the tree of life.

远古时代 LUCA 的存在是细胞分裂二元机制的必然结果。从生命起源到第二个 RNA 世界时代,LUCA 和同时代生物所生活的生物圈是漫长的细胞进化的产物。一个合理的假设是,LUCA 的分子结构要比现代生物的分子结构简单得多,这就解释了为什么 LUCA 时期的进化速度要比三大领域多样化时期的进化速度快。虽然 LUCA 可能只有 RNA 基因组,而且很可能缺乏 ATP 合成酶,但它已经能够执行基本的新陈代谢功能并产生高效蛋白质。然而,LUCA 的蛋白质组及其推断的新陈代谢仍有待于通过深入的系统发生组分析和更新的数据集进行正确的探索。LUCA很可能是一种嗜中性或中度嗜热菌,因为系统发生学分析表明它缺乏反向回旋酶,而所有嗜热菌都系统地存在这种酶。关于真核生物在生命树中的位置,是古细菌的姊妹群还是古细菌的后代的争论,对绘制 LUCA 的肖像具有重要影响。在第二种选择中,我们可以先验地排除 LUCA 中存在特定真核特征的可能性。相反,如果古细菌和真核生物是姊妹群,那么某些真核生物特征(如剪接体)可能曾出现在 LUCA 中,但后来在古细菌和细菌中消失了。LUCA病毒体的性质是另一个有争议的问题。我在这里提出,DNA病毒只起源于以RNA为基础的LUCA的三个领域的分化过程,以解释DNA病毒在生命树中的奇特分布模式。
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引用次数: 0
Introduction to the Special Issue on Early Evolution and the Last Common Ancestor. 早期进化与最后的共同祖先》特刊导言。
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-01 Epub Date: 2024-09-20 DOI: 10.1007/s00239-024-10208-6
Arturo Becerra, Aaron D Goldman

The early evolution of life spans an extensive period preceding the emergence of the first eukaryotic cell. This epoch, which transpired from 4.5 to 2.5 billion years ago, marked the advent of many fundamental cellular attributes and witnessed the existence of the Last Common Ancestor (LCA) of all life forms. Uncovering and reconstructing this elusive LCA's characteristics and genetic makeup represents a formidable challenge and a pivotal pursuit in early evolution. While most scientific accounts concur that the LCA resembles contemporary prokaryotes, its precise definition, genome composition, metabolic capabilities, and ecological niche remain subjects of contentious debate.

生命的早期进化跨越了第一个真核细胞出现之前的漫长时期。这一时代发生在 45 亿年前到 25 亿年前,标志着许多基本细胞属性的出现,并见证了所有生命形式的最后共同祖先(LCA)的存在。揭示和重建这个难以捉摸的最后共同祖先的特征和基因构成是一项艰巨的挑战,也是早期进化的关键追求。虽然大多数科学论文都认为 LCA 类似于当代原核生物,但其确切定义、基因组组成、代谢能力和生态位仍然是有争议的话题。
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引用次数: 0
Perspective: Protocells and the Path to Minimal Life. 透视:原电池和极简生活之路。
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-01 Epub Date: 2024-09-04 DOI: 10.1007/s00239-024-10197-6
David Deamer

The path to minimal life involves a series of stages that can be understood in terms of incremental, stepwise additions of complexity ranging from simple solutions of organic compounds to systems of encapsulated polymers capable of capturing nutrients and energy to grow and reproduce. This brief review will describe the initial stages that lead to populations of protocells capable of undergoing selection and evolution. The stages incorporate knowledge of chemical and physical properties of organic compounds, self-assembly of membranous compartments, non-enzymatic polymerization of amino acids and nucleotides followed by encapsulation of polymers to produce protocell populations. The results are based on laboratory simulations related to cyclic hydrothermal conditions on the prebiotic Earth. The final portion of the review looks ahead to what remains to be discovered about this process in order to understand the evolutionary path to minimal life.

从简单的有机化合物溶液到能够捕获养分和能量以进行生长和繁殖的封装聚合物系统,通往最低限度生命的道路包含一系列阶段,这些阶段可以从复杂性的递增和逐步增加的角度来理解。这篇简短的综述将描述导致能够进行选择和进化的原生细胞群的最初阶段。这些阶段包括了解有机化合物的化学和物理性质、膜分区的自组装、氨基酸和核苷酸的非酶聚合以及聚合物的封装,从而产生原细胞群。这些结果基于与前生物地球上循环热液条件有关的实验室模拟。综述的最后部分展望了这一过程中有待发现的问题,以便了解通往最小生命的进化路径。
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引用次数: 0
Evolution of Cellular Organization Along the First Branches of the Tree of Life. 生命之树最初枝条上的细胞组织进化。
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-17 DOI: 10.1007/s00239-024-10188-7
Freya Kailing, Jules Lieberman, Joshua Wang, Joshua L Turner, Aaron D Goldman

Current evidence suggests that some form of cellular organization arose well before the time of the last universal common ancestor (LUCA). Standard phylogenetic analyses have shown that several protein families associated with membrane translocation, membrane transport, and membrane bioenergetics were very likely present in the proteome of the LUCA. Despite these cellular systems emerging prior to the LUCA, extant archaea, bacteria, and eukaryotes have significant differences in cellular infrastructure and the molecular functions that support it, leading some researchers to argue that true cellularity did not evolve until after the LUCA. Here, we use recently reconstructed minimal proteomes of the LUCA as well as the last archaeal common ancestor (LACA) and the last bacterial common ancestor (LBCA) to characterize the evolution of cellular systems along the first branches of the tree of life. We find that a broad set of functions associated with cellular organization were already present by the time of the LUCA. The functional repertoires of the LACA and LBCA related to cellular organization nearly doubled along each branch following the divergence of the LUCA. These evolutionary trends created the foundation for similarities and differences in cellular organization between the taxonomic domains that are still observed today.

目前的证据表明,某种形式的细胞组织早在最后一个普遍共同祖先(LUCA)出现之前就已经出现了。标准的系统发育分析表明,与膜转运、膜运输和膜生物能相关的几个蛋白质家族很可能出现在 LUCA 蛋白质组中。尽管这些细胞系统在LUCA之前就已出现,但现存的古细菌、细菌和真核生物在细胞基础结构和支持细胞基础结构的分子功能方面存在显著差异,因此一些研究人员认为真正的细胞性是在LUCA之后才进化出来的。在这里,我们利用最近重建的 LUCA 以及最后的古细菌共同祖先(LACA)和最后的细菌共同祖先(LBCA)的最小蛋白质组来描述生命树第一分支的细胞系统进化特征。我们发现,在LUCA时期,与细胞组织相关的一系列功能已经出现。在LUCA分化之后,LACA和LBCA与细胞组织相关的功能几乎在每个分支上都翻了一番。这些进化趋势为分类领域之间细胞组织的相似性和差异性奠定了基础,而这些相似性和差异性在今天仍然可以观察到。
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引用次数: 0
The Unfinished Reconstructed Nature of the Last Universal Common Ancestor. 未完成的最后一个世界共同祖先的性质重建。
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-01 Epub Date: 2024-07-18 DOI: 10.1007/s00239-024-10187-8
Luis Delaye

The ultimate consequence of Darwin's theory of common descent implies that all life on earth descends ultimately from a common ancestor. Biochemistry and molecular biology now provide sufficient evidence of shared ancestry of all extant life forms. However, the nature of the Last Universal Common Ancestor (LUCA) has been a topic of much debate over the years. This review offers a historical perspective on different attempts to infer LUCA's nature, exploring the debate surrounding its complexity. We further examine how different methodologies identify sets of ancient protein that exhibit only partial overlap. For example, different bioinformatic approaches have identified distinct protein subunits from the ATP synthetase identified as potentially inherited from LUCA. Additionally, we discuss how detailed molecular evolutionary analysis of reverse gyrase has modified previous inferences about an hyperthermophilic LUCA based mainly on automatic bioinformatic pipelines. We conclude by emphasizing the importance of developing a database dedicated to studying genes and proteins traceable back to LUCA and earlier stages of cellular evolution. Such a database would house the most ancient genes on earth.

达尔文共同后裔理论的最终结果意味着,地球上的所有生命最终都是共同祖先的后裔。现在,生物化学和分子生物学提供了所有现存生命形式共同祖先的充分证据。然而,"最后的宇宙共同祖先"(LUCA)的性质多年来一直是一个争论不休的话题。本综述从历史的角度探讨了推断 LUCA 性质的不同尝试,探讨了围绕其复杂性的争论。我们还将进一步探讨不同的方法是如何识别仅表现出部分重叠的古蛋白质集的。例如,不同的生物信息学方法从 ATP 合成酶中识别出了不同的蛋白质亚基,这些亚基可能是从 LUCA 继承而来。此外,我们还讨论了反向回旋酶的详细分子进化分析如何改变了之前主要基于自动生物信息学管道对嗜热LUCA的推断。最后,我们强调了开发一个专门用于研究可追溯到 LUCA 和细胞进化早期阶段的基因和蛋白质的数据库的重要性。这样一个数据库将储存地球上最古老的基因。
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引用次数: 0
A New View of the Last Universal Common Ancestor. 最后一个世界共同祖先的新观点。
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-01 Epub Date: 2024-08-09 DOI: 10.1007/s00239-024-10193-w
Aaron D Goldman, Arturo Becerra
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引用次数: 0
Stem Life: A Framework for Understanding the Prebiotic-Biotic Transition. 干生命:理解前生物-生物过渡的框架》(A Framework for Understanding the Prebiotic-Biotic Transition)。
IF 2.1 3区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2024-10-01 Epub Date: 2024-09-08 DOI: 10.1007/s00239-024-10201-z
Gregory P Fournier

Abiogenesis is frequently envisioned as a linear, ladder-like progression of increasingly complex chemical systems, eventually leading to the ancestors of extant cellular life. This "pre-cladistics" view is in stark contrast to the well-accepted principles of organismal evolutionary biology, as informed by paleontology and phylogenetics. Applying this perspective to origins, I explore the paradigm of "Stem Life," which embeds abiogenesis within a broader continuity of diversification and extinction of both hereditary lineages and chemical systems. In this new paradigm, extant life's ancestral lineage emerged alongside and was dependent upon many other complex prebiotic chemical systems, as part of a diverse and fecund prebiosphere. Drawing from several natural history analogies, I show how this shift in perspective enriches our understanding of Origins and directly informs debates on defining Life, the emergence of the Last Universal Common Ancestor (LUCA), and the implications of prebiotic chemical experiments.

人们经常把生物起源设想为一个由日益复杂的化学系统组成的阶梯式线性发展过程,最终导致现存细胞生命的祖先。这种 "前类比学 "观点与古生物学和系统进化论中广为接受的生物进化生物学原理形成了鲜明对比。将这一观点应用于起源,我探讨了 "干生命 "范式,它将生物起源纳入遗传系和化学系统多样化和灭绝的更广泛连续性之中。在这一新范式中,现存生命的祖先血统与许多其他复杂的前生物化学系统同时出现,并依赖于它们,是一个多样而丰富的前生物圈的一部分。通过对自然史的类比,我展示了这种视角的转变如何丰富了我们对起源的理解,并直接启发了关于生命定义、最后宇宙共同祖先(LUCA)的出现以及前生物化学实验的意义等问题的讨论。
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引用次数: 0
期刊
Journal of Molecular Evolution
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