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The sensitivity of a honeybee colony to worker mortality depends on season and resource availability. 蜂群对工蜂死亡率的敏感性取决于季节和资源的可用性。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-29 DOI: 10.1186/s12862-020-01706-4
Natalie J Lemanski, Siddhant Bansal, Nina H Fefferman

Background: Honeybees have extraordinary phenotypic plasticity in their senescence rate, making them a fascinating model system for the evolution of aging. Seasonal variation in senescence and extrinsic mortality results in a tenfold increase in worker life expectancy in winter as compared to summer. To understand the evolution of this remarkable pattern of aging, we must understand how individual longevity scales up to effects on the entire colony. In addition, threats to the health of honey bees and other social insects are typically measured at the individual level. To predict the effects of environmental change on social insect populations, we must understand how individual effects impact colony performance. We develop a matrix model of colony demographics to ask how worker age-dependent and age-independent mortality affect colony fitness and how these effects differ by seasonal conditions.

Results: We find that there are seasonal differences in honeybee colony elasticity to both senescent and extrinsic worker mortality. Colonies are most elastic to extrinsic (age-independent) nurse and forager mortality during periods of higher extrinsic mortality and resource availability but most elastic to age-dependent mortality during periods of lower extrinsic mortality and lower resource availability.

Conclusions: These results suggest that seasonal changes in the strength of selection on worker senescence partly explain the observed pattern of seasonal differences in worker aging in honey bees. More broadly, these results extend our understanding of the role of extrinsic mortality in the evolution of senescence to social animals and improve our ability to model the effects of environmental change on social insect populations of economic or conservation concern.

背景:蜜蜂的衰老速度具有非凡的表型可塑性,使其成为衰老进化的一个迷人的模型系统。衰老和外在死亡率的季节性变化导致冬季工人的预期寿命比夏季增加十倍。为了理解这种显著的衰老模式的演变,我们必须了解个体寿命如何扩大到对整个群体的影响。此外,对蜜蜂和其他群居昆虫健康的威胁通常是在个体水平上衡量的。为了预测环境变化对群居昆虫种群的影响,我们必须了解个体效应如何影响群体性能。我们开发了一个蜂群人口统计的矩阵模型,以询问工人年龄依赖和年龄独立的死亡率如何影响蜂群适应性,以及这些影响如何因季节条件而异。结果:我们发现蜂群弹性对衰老和外来工蜂死亡率都存在季节性差异。在外在死亡率和资源可用性较高的时期,菌落对外在(与年龄无关的)看护和觅食者死亡率的弹性最大,但在外在死亡率较低和资源可用性较低的时期,对年龄相关的死亡率的弹性最大。结论:这些结果表明,选择强度的季节性变化在一定程度上解释了蜜蜂工蜂衰老的季节性差异模式。更广泛地说,这些结果扩展了我们对外在死亡在社会性动物衰老进化中的作用的理解,并提高了我们模拟环境变化对经济或保护关注的社会性昆虫种群的影响的能力。
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引用次数: 6
Exact median-tree inference for unrooted reconciliation costs. 无根协调成本的精确中值树推断。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-28 DOI: 10.1186/s12862-020-01700-w
Paweł Górecki, Alexey Markin, Oliver Eulenstein

Background: Solving median tree problems under tree reconciliation costs is a classic and well-studied approach for inferring species trees from collections of discordant gene trees. These problems are NP-hard, and therefore are, in practice, typically addressed by local search heuristics. So far, however, such heuristics lack any provable correctness or precision. Further, even for small phylogenetic studies, it has been demonstrated that local search heuristics may only provide sub-optimal solutions. Obviating such heuristic uncertainties are exact dynamic programming solutions that allow solving tree reconciliation problems for smaller phylogenetic studies. Despite these promises, such exact solutions are only suitable for credibly rooted input gene trees, which constitute only a tiny fraction of the readily available gene trees. Standard gene tree inference approaches provide only unrooted gene trees and accurately rooting such trees is often difficult, if not impossible.

Results: Here, we describe complex dynamic programming solutions that represent the first nonnaïve exact solutions for solving the tree reconciliation problems for unrooted input gene trees. Further, we show that the asymptotic runtime of the proposed solutions does not increase when compared to the most time-efficient dynamic programming solutions for rooted input trees.

Conclusions: In an experimental evaluation, we demonstrate that the described solutions for unrooted gene trees are, like the solutions for rooted input gene trees, suitable for smaller phylogenetic studies. Finally, for the first time, we study the accuracy of classic local search heuristics for unrooted tree reconciliation problems.

背景:求解树调和代价下的中位树问题是从不一致基因树集合中推断物种树的经典方法。这些问题是np困难的,因此,在实践中,通常通过局部搜索启发式来解决。然而,到目前为止,这种启发式缺乏任何可证明的正确性或准确性。此外,即使是小的系统发育研究,也已经证明局部搜索启发式可能只提供次优解决方案。消除这种启发式不确定性是精确的动态规划解决方案,允许解决较小的系统发育研究的树调和问题。尽管有这些承诺,但这种精确的解决方案只适用于可靠扎根的输入基因树,这只占现成基因树的一小部分。标准的基因树推断方法只能提供无根的基因树,而准确地对这样的树进行生根通常是困难的,如果不是不可能的话。结果:在这里,我们描述了复杂的动态规划解决方案,代表了解决无根输入基因树的树调和问题的第一个nonnaïve精确解决方案。此外,我们表明,与最具时间效率的根输入树动态规划解决方案相比,所提出的解决方案的渐近运行时间并没有增加。结论:在实验评估中,我们证明了所描述的无根基因树的解决方案与有根输入基因树的解决方案一样,适用于较小的系统发育研究。最后,我们首次研究了经典局部搜索启发式算法在无根树和解问题中的准确性。
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引用次数: 0
The evolution of fruit scent: phylogenetic and developmental constraints. 果实气味的进化:系统发育和发育限制。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-27 DOI: 10.1186/s12862-020-01708-2
Omer Nevo, Kim Valenta, Annemarie Kleiner, Diary Razafimandimby, Juan Antonio James Jeffrey, Colin A Chapman, Manfred Ayasse

Background: Fruit scent is increasingly recognized as an evolved signal whose function is to attract animal seed dispersers and facilitate plant reproduction. However, like all traits, fruit scent is likely to evolve in response to conflicting selective pressures and various constraints. Two major constraints are (i) phylogenetic constraints, in which traits are inherited from ancestors rather than adapted to current conditions and (ii) developmental constraints, if phenotypes are limited by the expression of other traits within the individual. We tested whether phylogenetic constraints play a role in fruit scent evolution by calculating the phylogenetic signal in ripe fruits of 98 species from three study sites. We then estimated the importance of developmental constraints by examining whether ripe fruits tend to emit compounds that are chemically similar to, and share biosynthetic pathways with, compounds emitted by conspecific unripe fruits from which they develop.

Results: We show that closely related taxa are not more similar to each other than to very distinct taxa, thus indicating that fruit scent shows little phylogenetic signal. At the same time, although ripe and unripe fruits of the same species tend to emit different chemicals, they tend to employ chemicals originating from similar biosynthetic pathways, thus indicating that some developmental constraints determine ripe fruit scent.

Conclusions: Our results highlight the complex landscape in which fruit scent has evolved. On one hand, fruit scent evolution is not limited by common ancestry. On the other hand, the range of chemicals that can be employed in ripe fruits is probably constrained by the needs of unripe fruits.

背景:人们越来越认识到果实气味是一种进化信号,其功能是吸引动物种子传播者并促进植物繁殖。然而,与所有性状一样,果实气味也可能是在相互冲突的选择压力和各种限制条件下进化而来的。两个主要的制约因素是:(i) 系统发育制约因素,即性状是从祖先那里继承下来的,而不是适应当前条件的;(ii) 发育制约因素,即表型受到个体内其他性状表达的限制。我们通过计算三个研究地点 98 个物种成熟果实的系统发育信号,检验了系统发育限制是否在果实气味进化中发挥作用。然后,我们通过研究成熟果实是否倾向于释放与同种未熟果实释放的化合物化学性质相似、生物合成途径相同的化合物,来估计发育限制的重要性:结果:我们发现,近缘类群之间的相似性并不比非常不同的类群之间的相似性高,因此表明水果气味几乎不显示系统发育信号。同时,虽然同一物种的成熟果实和未成熟果实往往会散发出不同的化学物质,但它们往往会使用源自类似生物合成途径的化学物质,这表明成熟果实的气味是由某些发育限制因素决定的:我们的研究结果凸显了水果气味进化的复杂性。一方面,水果气味的进化不受共同祖先的限制。另一方面,成熟果实可使用的化学物质的范围可能受到未成熟果实需求的限制。
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引用次数: 0
Whole-genome resequencing provides insights into the evolution and divergence of the native domestic yaks of the Qinghai-Tibet Plateau. 全基因组重测序为青藏高原原生家牦牛的进化和分化提供了新的思路。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-27 DOI: 10.1186/s12862-020-01702-8
Zhi-Xin Chai, Jin-Wei Xin, Cheng-Fu Zhang, Dawayangla, Luosang, Qiang Zhang, Pingcuozhandui, Chao Li, Yong Zhu, Han-Wen Cao, Hui Wang, Jian-Lin Han, Qiu-Mei Ji, Jin-Cheng Zhong

Background: On the Qinghai-Tibet Plateau, known as the roof ridge of the world, the yak is a precious cattle species that has been indispensable to the human beings living in this high-altitude area. However, the origin of domestication, dispersal route, and the divergence of domestic yaks from different areas are poorly understood.

Results: Here, we resequenced the genome of 91 domestic yak individuals from 31 populations and 1 wild yaks throughout China. Using a population genomics approach, we observed considerable genetic variation. Phylogenetic analysis suggested that the earliest domestications of yak occurred in the south-eastern QTP, followed by dispersal to the west QTP and northeast to SiChuang, Gansu, and Qinghai by two routes. Interestingly, we also found potential associations between the distribution of some breeds and historical trade routes such as the Silk Road and Tang-Tibet Ancient Road. Selective analysis identified 11 genes showing differentiation between domesticated and wild yaks and the potentially positively selected genes in each group were identified and compared among domesticated groups. We also detected an unbalanced pattern of introgression among domestic yak, wild yak, and Tibetan cattle.

Conclusions: Our research revealed population genetic evidence for three groups of domestic yaks. In addition to providing genomic evidence for the domestication history of yaks, we identified potential selected genes and introgression, which provide a theoretical basis and resources for the selective breeding of superior characters and high-quality yak.

背景:在被称为世界屋脊的青藏高原上,牦牛是一种珍贵的牛种,对生活在这个高海拔地区的人类来说,牦牛是不可或缺的。然而,人们对牦牛的驯化起源、传播途径以及不同地区间牦牛的分化却知之甚少。结果:对中国31个种群的91头家牦牛和1头野牦牛进行了基因组重测序。使用群体基因组学方法,我们观察到相当大的遗传变异。系统发育分析表明,牦牛最早的驯化发生在青藏高原东南部,随后经两条路线向青藏高原西部和东北的四川、甘肃和青海扩散。有趣的是,我们还发现了一些品种的分布与丝绸之路和唐藏古道等历史贸易路线之间的潜在联系。通过选择分析,鉴定出11个表现出驯化牦牛与野生牦牛差异的基因,并在驯化牦牛群体中鉴定出每组潜在正选择基因。我们还发现家牦牛、野牦牛和藏牛之间存在不平衡的基因渗入模式。结论:本研究揭示了3个家牦牛群体的种群遗传证据。在为牦牛驯化史提供基因组证据的基础上,发现潜在的选择基因和基因渗入,为选育优良性状和优质牦牛提供理论依据和资源。
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引用次数: 15
Divergent genes in gerbils: prevalence, relation to GC-biased substitution, and phenotypic relevance. 沙鼠的不同基因:患病率,与gc偏置替代的关系,以及表型相关性。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-19 DOI: 10.1186/s12862-020-01696-3
Yichen Dai, Rodrigo Pracana, Peter W H Holland

Background: Two gerbil species, sand rat (Psammomys obesus) and Mongolian jird (Meriones unguiculatus), can become obese and show signs of metabolic dysregulation when maintained on standard laboratory diets. The genetic basis of this phenotype is unknown. Recently, genome sequencing has uncovered very unusual regions of high guanine and cytosine (GC) content scattered across the sand rat genome, most likely generated by extreme and localized biased gene conversion. A key pancreatic transcription factor PDX1 is encoded by a gene in the most extreme GC-rich region, is remarkably divergent and exhibits altered biochemical properties. Here, we ask if gerbils have proteins in addition to PDX1 that are aberrantly divergent in amino acid sequence, whether they have also become divergent due to GC-biased nucleotide changes, and whether these proteins could plausibly be connected to metabolic dysfunction exhibited by gerbils.

Results: We analyzed ~ 10,000 proteins with 1-to-1 orthologues in human and rodents and identified 50 proteins that accumulated unusually high levels of amino acid change in the sand rat and 41 in Mongolian jird. We show that more than half of the aberrantly divergent proteins are associated with GC biased nucleotide change and many are in previously defined high GC regions. We highlight four aberrantly divergent gerbil proteins, PDX1, INSR, MEDAG and SPP1, that may plausibly be associated with dietary metabolism.

Conclusions: We show that through the course of gerbil evolution, many aberrantly divergent proteins have accumulated in the gerbil lineage, and GC-biased nucleotide substitution rather than positive selection is the likely cause of extreme divergence in more than half of these. Some proteins carry putatively deleterious changes that could be associated with metabolic and physiological phenotypes observed in some gerbil species. We propose that these animals provide a useful model to study the 'tug-of-war' between natural selection and the excessive accumulation of deleterious substitutions mutations through biased gene conversion.

背景:两种沙鼠,沙鼠(Psammomys obesus)和蒙古沙鼠(Meriones unguiculatus),在维持标准实验室饮食时可以变得肥胖并表现出代谢失调的迹象。这种表型的遗传基础尚不清楚。最近,基因组测序发现了分布在沙鼠基因组中的非常不寻常的高鸟嘌呤和胞嘧啶(GC)含量区域,很可能是由极端和局部偏倚基因转换产生的。一个关键的胰腺转录因子PDX1是由一个位于最极端的富含gc区域的基因编码的,它是显著分化的,并表现出改变的生化特性。在这里,我们询问沙鼠除了PDX1外是否还有氨基酸序列异常分化的蛋白质,它们是否也由于gc偏向的核苷酸变化而变得分化,以及这些蛋白质是否可能与沙鼠表现出的代谢功能障碍有关。结果:我们分析了人类和啮齿类动物中约10000个具有1对1同源物的蛋白质,鉴定出50个蛋白质在沙鼠中积累了异常高水平的氨基酸变化,41个在蒙古鸡中积累了异常高水平的氨基酸变化。我们发现,超过一半的异常分化蛋白与GC偏倚核苷酸变化有关,其中许多位于先前定义的高GC区域。我们强调了四种异常不同的沙鼠蛋白,PDX1, INSR, MEDAG和SPP1,它们可能与饮食代谢有关。结论:我们表明,在沙鼠进化过程中,沙鼠谱系中积累了许多异常分化的蛋白质,而gc偏向核苷酸替代而不是正选择可能是其中一半以上极端分化的原因。在一些沙鼠物种中观察到的一些蛋白质携带可能与代谢和生理表型相关的推定有害变化。我们认为这些动物提供了一个有用的模型来研究自然选择和通过有偏见的基因转换产生的有害替代突变的过度积累之间的“拔河”。
{"title":"Divergent genes in gerbils: prevalence, relation to GC-biased substitution, and phenotypic relevance.","authors":"Yichen Dai,&nbsp;Rodrigo Pracana,&nbsp;Peter W H Holland","doi":"10.1186/s12862-020-01696-3","DOIUrl":"https://doi.org/10.1186/s12862-020-01696-3","url":null,"abstract":"<p><strong>Background: </strong>Two gerbil species, sand rat (Psammomys obesus) and Mongolian jird (Meriones unguiculatus), can become obese and show signs of metabolic dysregulation when maintained on standard laboratory diets. The genetic basis of this phenotype is unknown. Recently, genome sequencing has uncovered very unusual regions of high guanine and cytosine (GC) content scattered across the sand rat genome, most likely generated by extreme and localized biased gene conversion. A key pancreatic transcription factor PDX1 is encoded by a gene in the most extreme GC-rich region, is remarkably divergent and exhibits altered biochemical properties. Here, we ask if gerbils have proteins in addition to PDX1 that are aberrantly divergent in amino acid sequence, whether they have also become divergent due to GC-biased nucleotide changes, and whether these proteins could plausibly be connected to metabolic dysfunction exhibited by gerbils.</p><p><strong>Results: </strong>We analyzed ~ 10,000 proteins with 1-to-1 orthologues in human and rodents and identified 50 proteins that accumulated unusually high levels of amino acid change in the sand rat and 41 in Mongolian jird. We show that more than half of the aberrantly divergent proteins are associated with GC biased nucleotide change and many are in previously defined high GC regions. We highlight four aberrantly divergent gerbil proteins, PDX1, INSR, MEDAG and SPP1, that may plausibly be associated with dietary metabolism.</p><p><strong>Conclusions: </strong>We show that through the course of gerbil evolution, many aberrantly divergent proteins have accumulated in the gerbil lineage, and GC-biased nucleotide substitution rather than positive selection is the likely cause of extreme divergence in more than half of these. Some proteins carry putatively deleterious changes that could be associated with metabolic and physiological phenotypes observed in some gerbil species. We propose that these animals provide a useful model to study the 'tug-of-war' between natural selection and the excessive accumulation of deleterious substitutions mutations through biased gene conversion.</p>","PeriodicalId":9111,"journal":{"name":"BMC Evolutionary Biology","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2020-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12862-020-01696-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38506657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Frequent birth-and-death events throughout perforin-1 evolution. 穿孔素-1进化过程中的频繁出生和死亡事件。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-19 DOI: 10.1186/s12862-020-01698-1
Miguel Araujo-Voces, Víctor Quesada

Background: Through its ability to open pores in cell membranes, perforin-1 plays a key role in the immune system. Consistent with this role, the gene encoding perforin shows hallmarks of complex evolutionary events, including amplification and pseudogenization, in multiple species. A large proportion of these events occurred in phyla for which scarce genomic data were available. However, recent large-scale genomics projects have added a wealth of information on those phyla. Using this input, we annotated perforin-1 homologs in more than eighty species including mammals, reptiles, birds, amphibians and fishes.

Results: We have annotated more than 400 perforin genes in all groups studied. Most mammalian species only have one perforin locus, which may contain a related pseudogene. However, we found four independent small expansions in unrelated members of this class. We could reconstruct the full-length coding sequences of only a few avian perforin genes, although we found incomplete and truncated forms of these gene in other birds. In the rest of reptilia, perforin-like genes can be found in at least three different loci containing up to twelve copies. Notably, mammals, non-avian reptiles, amphibians, and possibly teleosts share at least one perforin-1 locus as assessed by flanking genes. Finally, fish genomes contain multiple perforin loci with varying copy numbers and diverse exon/intron patterns. We have also found evidence for shorter genes with high similarity to the C2 domain of perforin in several teleosts. A preliminary analysis suggests that these genes arose at least twice during evolution from perforin-1 homologs.

Conclusions: The assisted annotation of new genomic assemblies shows complex patterns of birth-and-death events in the evolution of perforin. These events include duplication/pseudogenization in mammals, multiple amplifications and losses in reptiles and fishes and at least one case of partial duplication with a novel start codon in fishes.

背景:穿孔素-1 能够打开细胞膜上的孔,因此在免疫系统中发挥着关键作用。与这一作用相一致,编码穿孔素的基因在多个物种中显示出复杂进化事件的特征,包括扩增和假基因化。其中大部分事件发生在基因组数据稀缺的门类中。然而,最近的大规模基因组学项目为这些门类增添了大量信息。利用这些信息,我们注释了包括哺乳动物、爬行动物、鸟类、两栖动物和鱼类在内的 80 多个物种中的穿孔素-1 同源物:结果:我们在所研究的所有类群中注释了 400 多个穿孔素基因。大多数哺乳动物只有一个穿孔素基因座,其中可能包含一个相关的假基因。然而,我们在该类动物中的不相关成员中发现了四个独立的小扩展基因。尽管我们在其他鸟类中发现了不完整和截短形式的穿孔素基因,但我们只能重建少数鸟类穿孔素基因的全长编码序列。在爬行动物的其他种类中,穿孔素类基因至少存在于三个不同的基因位点上,其中包含多达 12 个拷贝。值得注意的是,根据侧翼基因的评估,哺乳动物、非鸟类爬行动物、两栖动物以及可能的长尾鱼类至少共享一个穿孔素-1基因座。最后,鱼类基因组包含多个穿孔素基因座,其拷贝数和外显子/内含子模式各不相同。我们还在几种远洋鱼类中发现了与穿孔素 C2 结构域高度相似的较短基因。初步分析表明,这些基因在穿孔素-1同源物的进化过程中至少出现过两次:新基因组组装的辅助注释显示了穿孔素进化过程中复杂的生死事件模式。这些事件包括哺乳动物中的重复/假基因化,爬行动物和鱼类中的多次扩增和丢失,以及鱼类中至少一个带有新起始密码子的部分重复。
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引用次数: 0
Correction to: An integrative phylogenomic approach to elucidate the evolutionary history and divergence times of Neuropterida (Insecta: Holometabola). 修正:一种综合系统基因组学方法来阐明神经翼目(昆虫纲:全代谢目)的进化史和分化时间。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-15 DOI: 10.1186/s12862-020-01695-4
Alexandros Vasilikopoulos, Bernhard Misof, Karen Meusemann, Doria Lieberz, Tomáš Flouri, Rolf G Beutel, Oliver Niehuis, Torsten Wappler, Jes Rust, Ralph S Peters, Alexander Donath, Lars Podsiadlowski, Christoph Mayer, Daniela Bartel, Alexander Böhm, Shanlin Liu, Paschalia Kapli, Carola Greve, James E Jepson, Xingyue Liu, Xin Zhou, Horst Aspöck, Ulrike Aspöck

An amendment to this paper has been published and can be accessed via the original article.

本文的修订版已经发布,可以通过原文访问。
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引用次数: 1
Molecular evolutionary and structural analysis of human UCHL1 gene demonstrates the relevant role of intragenic epistasis in Parkinson's disease and other neurological disorders. 人类UCHL1基因的分子进化和结构分析表明基因内上位在帕金森病和其他神经系统疾病中的相关作用。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-07 DOI: 10.1186/s12862-020-01684-7
Muhammad Saqib Nawaz, Razia Asghar, Nashaiman Pervaiz, Shahid Ali, Irfan Hussain, Peiqi Xing, Yiming Bao, Amir Ali Abbasi

Background: Parkinson's disease (PD) is the second most common neurodegenerative disorder. PD associated human UCHL1 (Ubiquitin C-terminal hydrolase L1) gene belongs to the family of deubiquitinases and is known to be highly expressed in neurons (1-2% in soluble form). Several functions of UCHL1 have been proposed including ubiquitin hydrolyze activity, ubiquitin ligase activity and stabilization of the mono-ubiquitin. Mutations in human UCHL1 gene have been associated with PD and other neurodegenerative disorders. The present study aims to decipher the sequence evolutionary pattern and structural dynamics of UCHL1. Furthermore, structural and interactional analysis of UCHL1 was performed to help elucidate the pathogenesis of PD.

Results: The phylogenetic tree topology suggests that the UCHL1 gene had originated in early gnathostome evolutionary history. Evolutionary rate analysis of orthologous sequences reveals strong purifying selection on UCHL1. Comparative structural analysis of UCHL1 pinpoints an important protein segment spanning amino acid residues 32 to 39 within secretion site with crucial implications in evolution and PD pathogenesis through a well known phenomenon called intragenic epistasis. Identified critical protein segment appears to play an indispensable role in protein stability, proper protein conformation as well as harboring critical interaction sites.

Conclusions: Conclusively, the critical protein segment of UCHL1 identified in the present study not only demonstrates the relevant role of intraprotein conformational epistasis in the pathophysiology of PD but also offers a novel therapeutic target for the disease.

背景:帕金森病(PD)是第二常见的神经退行性疾病。PD相关的人UCHL1(泛素c端水解酶L1)基因属于去泛素酶家族,已知在神经元中高表达(可溶性形式为1-2%)。UCHL1的几个功能包括泛素水解活性、泛素连接酶活性和单泛素的稳定。人类UCHL1基因突变与PD和其他神经退行性疾病有关。本研究旨在揭示UCHL1的序列演化模式和结构动力学。此外,我们对UCHL1的结构和相互作用进行了分析,以帮助阐明PD的发病机制。结果:系统发育树拓扑结构提示UCHL1基因起源于早期颌目动物进化史。同源序列的进化速率分析表明,UCHL1具有较强的纯化选择。UCHL1的比较结构分析指出了分泌位点中一个重要的蛋白质片段,该蛋白质片段跨越32至39个氨基酸残基,通过一种众所周知的称为基因内上位的现象,在进化和PD发病机制中具有重要意义。鉴定出的关键蛋白片段对蛋白质的稳定性、正确的蛋白质构象以及关键的相互作用位点起着不可或缺的作用。结论:本研究确定的UCHL1关键蛋白片段不仅证明了蛋白内构象上位在PD病理生理中的相关作用,而且为PD提供了新的治疗靶点。
{"title":"Molecular evolutionary and structural analysis of human UCHL1 gene demonstrates the relevant role of intragenic epistasis in Parkinson's disease and other neurological disorders.","authors":"Muhammad Saqib Nawaz,&nbsp;Razia Asghar,&nbsp;Nashaiman Pervaiz,&nbsp;Shahid Ali,&nbsp;Irfan Hussain,&nbsp;Peiqi Xing,&nbsp;Yiming Bao,&nbsp;Amir Ali Abbasi","doi":"10.1186/s12862-020-01684-7","DOIUrl":"https://doi.org/10.1186/s12862-020-01684-7","url":null,"abstract":"<p><strong>Background: </strong>Parkinson's disease (PD) is the second most common neurodegenerative disorder. PD associated human UCHL1 (Ubiquitin C-terminal hydrolase L1) gene belongs to the family of deubiquitinases and is known to be highly expressed in neurons (1-2% in soluble form). Several functions of UCHL1 have been proposed including ubiquitin hydrolyze activity, ubiquitin ligase activity and stabilization of the mono-ubiquitin. Mutations in human UCHL1 gene have been associated with PD and other neurodegenerative disorders. The present study aims to decipher the sequence evolutionary pattern and structural dynamics of UCHL1. Furthermore, structural and interactional analysis of UCHL1 was performed to help elucidate the pathogenesis of PD.</p><p><strong>Results: </strong>The phylogenetic tree topology suggests that the UCHL1 gene had originated in early gnathostome evolutionary history. Evolutionary rate analysis of orthologous sequences reveals strong purifying selection on UCHL1. Comparative structural analysis of UCHL1 pinpoints an important protein segment spanning amino acid residues 32 to 39 within secretion site with crucial implications in evolution and PD pathogenesis through a well known phenomenon called intragenic epistasis. Identified critical protein segment appears to play an indispensable role in protein stability, proper protein conformation as well as harboring critical interaction sites.</p><p><strong>Conclusions: </strong>Conclusively, the critical protein segment of UCHL1 identified in the present study not only demonstrates the relevant role of intraprotein conformational epistasis in the pathophysiology of PD but also offers a novel therapeutic target for the disease.</p>","PeriodicalId":9111,"journal":{"name":"BMC Evolutionary Biology","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2020-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12862-020-01684-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38565949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
The flattened and needlelike leaves of the pine family (Pinaceae) share a conserved genetic network for adaxial-abaxial polarity but have diverged for photosynthetic adaptation. 松科扁平和针状的叶片共享一个保守的正向-反向极性遗传网络,但为了适应光合作用而分化。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-07 DOI: 10.1186/s12862-020-01694-5
Hong Du, Jin-Hua Ran, Yuan-Yuan Feng, Xiao-Quan Wang

Background: Leaves have highly diverse morphologies. However, with an evolutionary history of approximately 200 million years, leaves of the pine family are relatively monotonous and often collectively called "needles", although they vary in length, width and cross-section shapes. It would be of great interest to determine whether Pinaceae leaves share similar morpho-physiological features and even consistent developmental and adaptive mechanisms.

Results: Based on a detailed morpho-anatomical study of leaves from all 11 Pinaceae genera, we particularly investigated the expression patterns of adaxial-abaxial polarity genes in two types of leaves (needlelike and flattened) and compared their photosynthetic capacities. We found that the two types of leaves share conserved spatial patterning of vasculatures and genetic networks for adaxial-abaxial polarity, although they display different anatomical structures in the mesophyll tissue differentiation and distribution direction. In addition, the species with needlelike leaves exhibited better photosynthetic capacity than the species with flattened leaves.

Conclusions: Our study provides the first evidence for the existence of a conserved genetic module controlling adaxial-abaxial polarity in the development of different Pinaceae leaves.

背景:叶子具有高度多样化的形态。然而,在大约2亿年的进化历史中,松树科的叶子相对单调,通常被统称为“针”,尽管它们的长度、宽度和截面形状各不相同。确定松科植物叶片是否具有相似的形态生理特征,甚至一致的发育和适应机制,将具有重要的意义。结果:在对11种松科植物叶片形态解剖研究的基础上,研究了针状叶和扁平叶两种叶片中正反极性基因的表达模式,并比较了两种叶片的光合能力。研究发现,尽管叶肉组织分化和分布方向上的解剖结构不同,但两种类型的叶片具有相同的维管系统空间格局和近轴-背向遗传网络。此外,针状叶片的物种比扁平叶片的物种表现出更好的光合能力。结论:本研究首次证明了在不同松科植物叶片发育过程中存在一个保守的控制正反极性的遗传模块。
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引用次数: 5
Correction to: Potential causes and consequences of rapid mitochondrial genome evolution in thermoacidophilic Galdieria (Rhodophyta). 更正:嗜热酸Galdieria (Rhodophyta)线粒体基因组快速进化的潜在原因和后果。
IF 3.4 Q1 Agricultural and Biological Sciences Pub Date : 2020-10-07 DOI: 10.1186/s12862-020-01686-5
Chung Hyun Cho, Seung In Park, Claudia Ciniglia, Eun Chan Yang, Louis Graf, Debashish Bhattacharya, Hwan Su Yoon

An amendment to this paper has been published and can be accessed via the original article.

本文的修订版已经发布,可以通过原文访问。
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BMC Evolutionary Biology
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