inversion

倒置
  • 文章类型: Journal Article
    背景:Melilotus,豆科科的一员,是一种关键的饲料作物,由于其显著的生产力和承受非生物胁迫的能力,在全球畜牧业地区广泛种植。然而,叶绿体基因组的遗传属性和不同物种之间的进化联系仍未解决。
    结果:在这项研究中,我们编制了18种麦草属植物的叶绿体基因组,并进行了综合比较分析。通过检测蛋白质编码基因,我们成功地为这些物种建立了一个强大的系统发育树。这一结论得到了来自整个叶绿体基因组的单核苷酸多态性(SNP)的系统发育的进一步支持。值得注意的是,我们的发现揭示了M.infestus,M.siculus,M.sulcatus,和特殊分枝杆菌在系统发育树中形成了一个不同的亚组。此外,这四个物种的叶绿体基因组表现出两个共同的倒位。此外,观察到在IRLC中的六个物种中重新出现了反向重复序列。蛋白质编码基因内单核苷酸多态性(SNP)和插入/缺失(InDels)的分布模式表明ycf1和ycf2在进化发育过程中积累了非保守的改变。此外,对蛋白质编码基因的进化率的检查显示,rps18,rps7和rpl16尤其在Melilotus中经历了阳性选择。
    结论:我们提出了一个完整的叶绿体基因组的比较分析。这项研究代表了迄今为止对Melilotus属内进化和变异性的最彻底和详细的探索。我们的研究提供了有价值的叶绿体基因组信息,可用于改善系统发育重建并对Melilotus和其他Papilionoideae物种进行生物地理推断。
    BACKGROUND: Melilotus, a member of the Fabaceae family, is a pivotal forage crop that is extensively cultivated in livestock regions globally due to its notable productivity and ability to withstand abiotic stress. However, the genetic attributes of the chloroplast genome and the evolutionary connections among different Melilotus species remain unresolved.
    RESULTS: In this study, we compiled the chloroplast genomes of 18 Melilotus species and performed a comprehensive comparative analysis. Through the examination of protein-coding genes, we successfully established a robust phylogenetic tree for these species. This conclusion is further supported by the phylogeny derived from single-nucleotide polymorphisms (SNPs) across the entire chloroplast genome. Notably, our findings revealed that M. infestus, M. siculus, M. sulcatus, and M. speciosus formed a distinct subgroup within the phylogenetic tree. Additionally, the chloroplast genomes of these four species exhibit two shared inversions. Moreover, inverted repeats were observed to have reemerged in six species within the IRLC. The distribution patterns of single-nucleotide polymorphisms (SNPs) and insertions/deletions (InDels) within protein-coding genes indicated that ycf1 and ycf2 accumulated nonconservative alterations during evolutionary development. Furthermore, an examination of the evolutionary rate of protein-coding genes revealed that rps18, rps7, and rpl16 underwent positive selection specifically in Melilotus.
    CONCLUSIONS: We present a comparative analysis of the complete chloroplast genomes of Melilotus species. This study represents the most thorough and detailed exploration of the evolution and variability within the genus Melilotus to date. Our study provides valuable chloroplast genomic information for improving phylogenetic reconstructions and making biogeographic inferences about Melilotus and other Papilionoideae species.
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  • 文章类型: Journal Article
    背景:足骨关节和距下关节是踝关节复合体的两个主要关节。机器护甲力线相对于这两个关节轴的位置和方向可以影响脚踝运动。我们旨在了解不同力线对踝关节多维运动的影响。
    方法:在本文中,提出了三种踝关节护甲的辅助力线方案:垂直于足关节轴(PT),与距下关节轴(IS)相交,与肱三头肌(PTS)平行。提出了计算机械护甲辅助力矩的理论模型。七名参与者完成了四项踝关节足底屈实验测试,包括三个由PT辅助的被动动作,PTS和IS计划,和一个没有机械护甲辅助的主动运动(主动)。
    结果:模拟结果表明,所有三种机械护甲都能够产生明显的踝关节前屈力矩。其中,PT方案展示了所有维度中最高的时刻,其次是PTS和IS计划。实验结果证实了所有三种机械护甲方案在辅助踝关节屈方面的有效性。此外,当辅助力线接近距下关节时,有一个减少的脚踝运动的辅助机械护甲在非屈方向,随着踝关节角度曲线相对于活动踝关节运动的平均距离的减少。此外,倒转和足底弯曲之间的线性相关系数,内收和跖屈,内收和内翻逐渐向积极的踝关节屈运动收敛。
    结论:我们的研究表明,机器护甲力线到距下关节的位置对踝关节内翻和内收有显着影响。在所有三个计划中,IS,距离距下关节轴最近的距离,具有最大的运动学相似性,积极的踝关节,可能是一个更好的选择,踝关节辅助和康复。
    BACKGROUND: The talocrural joint and the subtalar joint are the two major joints of the ankle-joint complex. The position and direction of the exosuit force line relative to these two joint axes can influence ankle motion. We aimed to understand the effects of different force-lines on ankle multidimensional motion.
    METHODS: In this article, three assistance force line schemes for ankle exosuits were proposed: perpendicular to the talocrural joint axis (PT), intersecting with the subtalar joint axis (IS), and parallel to the triceps surae (PTS). A theoretical model was proposed to calculate the exosuit\'s assistance moment. Seven participants completed four experimental tests of ankle plantarflexion, including three passive motions assisted by the PT, PTS and IS schemes, and one active motion without exosuit assistance (Active).
    RESULTS: The simulation results demonstrated that all three exosuits were able to produce significant moments of ankle plantarflexion. Among these, the PT scheme exhibited the highest moments in all dimensions, followed by the PTS and IS schemes. The experimental findings confirmed the effectiveness of all three exosuit schemes in assisting ankle plantarflexion. Additionally, as the assistive force lines approached the subtalar joint, there was a decrease in ankle motion assisted by the exosuits in non-plantarflexion directions, along with a reduction in the average distance of ankle angle curves relative to active ankle motion. Furthermore, the linear correlation coefficients between inversion and plantarflexion, adduction and plantarflexion, and adduction and inversion gradually converged toward active ankle plantarflexion motion.
    CONCLUSIONS: Our research indicates that the position of the exosuit force line to the subtalar joint has a significant impact on ankle inversion and adduction. Among all three schemes, the IS, which has the closest distance to the subtalar joint axes, has the greatest kinematic similarity to active ankle plantarflexion and might be a better choice for ankle assistance and rehabilitation.
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  • 文章类型: Case Reports
    在杜兴氏肌营养不良症(DMD)中很少观察到结构变异(SV),一种主要以DMD基因缺失和点突变为特征的病症。由于常规使用的短读测序技术的有限的SV检测能力,DMD中的SV仍然难以可靠地检测。在这里,我们呈现一个家庭,一个男孩和他的母亲,有肌营养不良的临床症状,肌酐激酶水平升高,智力残疾。男孩的肌肉活检显示肌营养不良蛋白缺乏。常规分子技术未能检测到DMD基因的异常,然而,肌营养不良蛋白mRNA转录本分析显示缺乏外显子59至79。随后的长读全基因组测序发现了一个罕见的复杂结构变异,一个77kb的新颖基因内倒置,和DMD基因内的平衡易位t(X;1)(p21.2;p13.3)重排,扩大肌萎缩蛋白病的遗传范围。我们的发现表明,在常规分子技术无法识别致病变体的情况下,应考虑SV。
    Structural variants (SVs) are infrequently observed in Duchenne muscular dystrophy (DMD), a condition mainly marked by deletions and point mutations in the DMD gene. SVs in DMD remain difficult to reliably detect due to the limited SV-detection capacity of conventionally used short-read sequencing technology. Herein, we present a family, a boy and his mother, with clinical signs of muscular dystrophy, elevated creatinine kinase levels, and intellectual disability. A muscle biopsy from the boy showed dystrophin deficiency. Routine molecular techniques failed to detect abnormalities in the DMD gene, however, dystrophin mRNA transcripts analysis revealed an absence of exons 59 to 79. Subsequent long-read whole-genome sequencing identified a rare complex structural variant, a 77 kb novel intragenic inversion, and a balanced translocation t(X;1)(p21.2;p13.3) rearrangement within the DMD gene, expanding the genetic spectrum of dystrophinopathy. Our findings suggested that SVs should be considered in cases where conventional molecular techniques fail to identify pathogenic variants.
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  • 文章类型: Journal Article
    背景:质体是植物细胞中的光合细胞器,并且质体基因组(质体)在进化中通常是保守的。作为被子植物最重要的经济和生态顺序之一,先前有记录表明,作为光自养植物的顺序,Poales表现出很大的质体变异。
    结果:我们获得了93个质体,代表所有16个家族和5个主要进化枝,以揭示它们的变异程度和进化模式。广泛的变化,包括单子叶植物中最大的一个,大小为225,293bp,异质GC含量,并揭示了各种各样的基因复制和丢失。此外,在被子植物中观察到罕见的三个反向重复(IR)拷贝和一个IR损失,伴有短IR(sIR)和小的直接重复(DR)。广泛的结构异质体,多样化的倒置,不寻常的基因组重排都出现在Poales中,偶尔在一个物种内。发现质体中的大量重复与观察到的倒置和重排呈正相关。随着白种的演变,变化都表现出“小-大-中等”的趋势,以及序列替换率。最后,我们发现了一些积极选择的基因,主要是C4谱系,而那些经历基因丢失的人的密切相关的谱系往往经历了更宽松的净化选择。
    结论:Poales中质体的变异可能与其成功地多样化到不同的生境和多个光合途径的转变有关。我们的顺序尺度分析揭示了Poales光自养顺序中的质体的异常进化情景,并为整个被子植物的质体进化提供了新的见解。
    BACKGROUND: The plastid is the photosynthetic organelle in plant cell, and the plastid genomes (plastomes) are generally conserved in evolution. As one of the most economically and ecologically important order of angiosperms, Poales was previously documented to exhibit great plastomic variation as an order of photoautotrophic plants.
    RESULTS: We acquired 93 plastomes, representing all the 16 families and 5 major clades of Poales to reveal the extent of their variation and evolutionary pattern. Extensive variation including the largest one in monocots with 225,293 bp in size, heterogeneous GC content, and a wide variety of gene duplication and loss were revealed. Moreover, rare occurrences of three inverted repeat (IR) copies in angiosperms and one IR loss were observed, accompanied by short IR (sIR) and small direct repeat (DR). Widespread structural heteroplasmy, diversified inversions, and unusual genomic rearrangements all appeared in Poales, occasionally within a single species. Extensive repeats in the plastomes were found to be positively correlated with the observed inversions and rearrangements. The variation all showed a \"small-large-moderate\" trend along the evolution of Poales, as well as for the sequence substitution rate. Finally, we found some positively selected genes, mainly in C4 lineages, while the closely related lineages of those experiencing gene loss tended to have undergone more relaxed purifying selection.
    CONCLUSIONS: The variation of plastomes in Poales may be related to its successful diversification into diverse habitats and multiple photosynthetic pathway transitions. Our order-scale analyses revealed unusual evolutionary scenarios for plastomes in the photoautotrophic order of Poales and provided new insights into the plastome evolution in angiosperms as a whole.
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  • 文章类型: Journal Article
    在Salix的Vetrix进化枝,木本开花植物的一个属,性别决定涉及15号染色体,但XY系统已变为ZW系统。我们研究了所涉及的详细遗传变化。我们用基因组测序,用染色体构象捕获(Hi-C)和PacBioHiFi读取来组装沙柳的染色体水平无间隙X和Y,并区分了15X和15Y连锁区域的单倍型,研究性别相关区域(SLR)的进化史。我们的测序揭示了SLR的X和Y单倍型的异形性,X链接区域比相应的Y区域大得多,主要是由于积累的重复序列和基因重复。SLR内单拷贝正统群的系统发育表明,沙棘和沙柳在15号染色体着丝粒附近的富含重复序列的区域内共享一个祖先SLR。在异性恋的变化中,X链接区域变成了W链接区域,而Z是从Y.
    In the Vetrix clade of Salix, a genus of woody flowering plants, sex determination involves chromosome 15, but an XY system has changed to a ZW system. We studied the detailed genetic changes involved. We used genome sequencing, with chromosome conformation capture (Hi-C) and PacBio HiFi reads to assemble chromosome level gap-free X and Y of Salix arbutifolia, and distinguished the haplotypes in the 15X- and 15Y-linked regions, to study the evolutionary history of the sex-linked regions (SLRs). Our sequencing revealed heteromorphism of the X and Y haplotypes of the SLR, with the X-linked region being considerably larger than the corresponding Y region, mainly due to accumulated repetitive sequences and gene duplications. The phylogenies of single-copy orthogroups within the SLRs indicate that S. arbutifolia and Salix purpurea share an ancestral SLR within a repeat-rich region near the chromosome 15 centromere. During the change in heterogamety, the X-linked region changed to a W-linked one, while the Z was derived from the Y.
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  • 文章类型: Journal Article
    地球物理反演通常涉及不适定问题。正则化是缓解此问题的最常用方法。正则化参数选择方法很多,其中自适应正则化方法可以在迭代过程中自动更新参数,降低了参数选择的难度。因此,在线性反演中有着广泛的应用。然而,在随机优化算法中使用自适应正则化方法的研究很少。最大的困难在于,在随机优化算法中,任何迭代的搜索方向都是完全随机的。数据拟合项和稳定项在很大范围内变化,使传统方法难以奏效。在本文中,我们考虑了目标函数中数据拟合项和稳定项的贡献,并给出了一种改进的自适应正则化方法,用于瞬变电磁(TEM)数据的非常快速模拟退火(VFSA)反演。优化的方法动态调整这两个项,使它们处于平衡状态。我们设计了几个数值实验,实验结果表明,本文方法不仅加快了收敛速度,而且反演结果受初始正则化参数的影响很小。最后,我们将这种方法应用于现场数据,反演结果与附近钻孔数据显示出很好的一致性。
    Geophysical inversion usually involves ill-posed problem. Regularization is the most commonly used method to mitigate this problem. There are many regularization parameter selection methods, among which the adaptive regularization method can automatically update parameters during iteration, reducing the difficulty of parameter selection. Therefore, it is widely used in linear inversion. However, there are very few studies on the use of adaptive regularization methods in stochastic optimization algorithms. The biggest difficulty is that in stochastic optimization algorithms, the search direction of any iteration is completely random. Data fitting term and stabilizing term vary in a wide range, making it difficult for traditional methods to work. In this paper, we consider the contributions of the data fitting term and the stabilizing term in the objective function and give an improved adaptive regularization method for very fast simulated annealing (VFSA) inversion for transient electromagnetic (TEM) data. The optimized method adjusts the two terms dynamically to make them in balance. We have designed several numerical experiments, and the experimental results demonstrate that the method in this paper not only accelerates the convergence, but also the inversion results are very little affected by the initial regularization parameter. Finally, we apply this method to field data, and the inversion results show very good agreements with nearby borehole data.
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  • 文章类型: Journal Article
    磁径是影响磁流体磁性能的重要因素。可以基于磁特性来估计磁直径分布。然而,磁性纳米粒子(MNPs)的磁偶极子相互作用以及磁径随温度的变化在以往的研究中很少受到关注。因此,这项研究提出了AP-MMF1-L方法来反演考虑磁偶极子相互作用的磁径,并得出不同温度下的磁径。首先,AP-MMF1-L采用一阶修正平均场Langevin函数(MMF1-L)与实测磁化曲线之间的最小二乘法作为目标函数。同时,采用混合人工蜂群-粒子群(AP)优化算法反演最优磁径分布。其次,将流体力学直径分布实验值与理论值进行比较,与其他模型相比,证明AP-MMF1-L方法可以获得磁径分布的准确反演结果。最后,研究了不同温度下磁径的算术平均值,显示出随着温度升高而下降的趋势,大致遵循线性分布。AP-MMF1-L提供了一种新颖有效的工具,用于在各种温度下准确确定MNPs的磁直径。 .
    The magnetic diameter is a crucial factor affecting the magnetic properties of magnetic fluids. The magnetic diameter distribution can be estimated based on the magnetic properties. However, the magnetic dipole interaction of magnetic nanoparticles (MNPs) and the variation of the magnetic diameter with temperature have received relatively little attention in previous research. Hence, this research proposes the AP-MMF1-L method to inverse the magnetic diameter which considers the magnetic dipole interaction and derives the magnetic diameter at different temperatures. Firstly, the AP-MMF1-L uses the least square method between the first-order modified mean-field Langevin function (MMF1-L) and the measured magnetization curve as the objective function. Meanwhile, the hybrid Artificial bee colony-particle swarm (AP) optimization algorithm is introduced to inverse the optimal magnetic diameter distribution. Secondly, the hydrodynamic diameter distribution experimental values are compared with the theoretical values, demonstrating the AP-MMF1-L method obtains accurate inversion results of the magnetic diameter distribution when compared to other models. Finally, the arithmetic mean of the magnetic diameter at different temperatures is investigated, revealing a decreasing trend as the temperature rises, approximately following a linear distribution. The AP-MMF1-L provides a novel and effective tool for accurately determining the magnetic diameter of the MNPs across various temperatures.
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  • 文章类型: Journal Article
    Inversions,一种染色体结构变异,通过影响基因表达和重组率显着影响植物的适应性和基因功能。然而,与其他结构变化相比,它们在功能生物学和作物改良中的作用在很大程度上仍未被探索。在这次审查中,我们强调了技术和方法上的进步,这些进步使人们能够通过pangenome框架和机器学习算法全面理解反演变体。基因组编辑是诱导或逆转植物倒位突变的有效方法。提供了一种有效的机制来改变局部重组率。鉴于作物育种中反转的潜力,我们预计在未来的研究和育种应用中,科学界对倒置的关注将越来越多。
    Inversions, a type of chromosomal structural variation, significantly influence plant adaptation and gene functions by impacting gene expression and recombination rates. However, compared with other structural variations, their roles in functional biology and crop improvement remain largely unexplored. In this review, we highlight technological and methodological advancements that have allowed a comprehensive understanding of inversion variants through the pangenome framework and machine learning algorithms. Genome editing is an efficient method for inducing or reversing inversion mutations in plants, providing an effective mechanism to modify local recombination rates. Given the potential of inversions in crop breeding, we anticipate increasing attention on inversions from the scientific community in future research and breeding applications.
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  • 文章类型: Journal Article
    多粘菌素B和多粘菌素E(粘菌素)目前被认为是由耐多药革兰氏阴性菌如碳青霉烯酶产生的肠杆菌引起的人类感染的最后一道防线。鲍曼不动杆菌,和肺炎克雷伯菌.然而,对这种最后一线药物的耐药性是一个主要的公共卫生威胁,并且正在迅速增加。多粘菌素S2(S2)是我们研究所先前合成的多粘菌素B类似物,具有明显的高抗菌活性和低毒性,比多粘菌素B和粘菌素。预测S2可能的耐药机制,以便临床广泛应用。我们通过实验诱导了细菌抗性突变体,并研究了初步的抗性机制。Mut-S,通过全基因组测序分析由S2诱导的肺炎克雷伯菌ATCCBAA-2146(Kpn2146)的抗性突变体,转录组学,质谱和互补实验。令人惊讶的是,在Mut-S中发现了由IS26介导的分子内转座引起的染色体中大约1.1Mbp的大规模基因组倒置(LSGI),这导致了mgrB截断,脂质A修饰和因此S2抗性。该抗性可以通过携带完整mgrB的质粒来补充。在多粘菌素B和粘菌素诱导的Kpn2146耐药突变体中也发现了相同的机制(Mut-B和Mut-E,分别)。这是肺炎克雷伯菌染色体中由IS26分子内转座介导的mgrB截断引起的多粘菌素耐药性的首次报道。这些发现扩大了我们对多粘菌素耐药性的知识范围,并丰富了我们对细菌如何在抗生素存在下生存的理解。
    Polymyxin B and polymyxin E (colistin) are presently considered the last line of defense against human infections caused by multidrug-resistant Gram-negative organisms such as carbapenemase-producer Enterobacterales, Acinetobacter baumannii, and Klebsiella pneumoniae. Yet resistance to this last-line drugs is a major public health threat and is rapidly increasing. Polymyxin S2 (S2) is a polymyxin B analogue previously synthesized in our institute with obviously high antibacterial activity and lower toxicity than polymyxin B and colistin. To predict the possible resistant mechanism of S2 for wide clinical application, we experimentally induced bacterial resistant mutants and studied the preliminary resistance mechanisms. Mut-S, a resistant mutant of K. pneumoniae ATCC BAA-2146 (Kpn2146) induced by S2, was analyzed by whole genome sequencing, transcriptomics, mass spectrometry and complementation experiment. Surprisingly, large-scale genomic inversion (LSGI) of approximately 1.1 Mbp in the chromosome caused by IS26 mediated intramolecular transposition was found in Mut-S, which led to mgrB truncation, lipid A modification and hence S2 resistance. The resistance can be complemented by plasmid carrying intact mgrB. The same mechanism was also found in polymyxin B and colistin induced drug-resistant mutants of Kpn2146 (Mut-B and Mut-E, respectively). This is the first report of polymyxin resistance caused by IS26 intramolecular transposition mediated mgrB truncation in chromosome in K. pneumoniae. The findings broaden our scope of knowledge for polymyxin resistance and enriched our understanding of how bacteria can manage to survive in the presence of antibiotics.
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  • 文章类型: Journal Article
    性染色体在许多不同的植物谱系中独立进化。这里,我们通过对纯合XX雌性和YY雄性进行测序来描述菠菜(Spinaciaoleracea)X和Y单倍型的参考基因组。185Mb4号染色体的长臂携带一个13MbX连锁区(XLR)和24.1MbY连锁区(YLR),其中10Mb是Y特异性的。我们描述的证据表明,这反映出常染色体序列的插入产生了一个“Y重复区域”或“YDR”,其存在可能直接减少了侧翼区域的遗传重组,尽管X和Y性别连接区都在4号染色体的一个大着丝粒区域内,该区域很少在两性的减数分裂中重组。使用同义位点的序列差异估计表明,YDR基因开始从其可能的常染色体祖细胞中发散约3MYA,大约在侧翼YLR停止与XLR重组的时候。这些侧翼区在YY中的重复序列密度高于XX组装体,并且与XLR相比,包括更多的假基因。YLR失去了大约11%的祖先基因,暗示一些退化。插入男性决定因子会导致整个着丝粒区域的Y连锁,创造物理上的小,高度重组,末端假常染色体区域。这些发现为菠菜中性染色体的起源提供了更广泛的理解。
    Sex chromosomes have evolved independently in many different plant lineages. Here, we describe reference genomes for spinach (Spinacia oleracea) X and Y haplotypes by sequencing homozygous XX females and YY males. The long arm of 185-Mb chromosome 4 carries a 13-Mb X-linked region (XLR) and 24.1-Mb Y-linked region (YLR), of which 10 Mb is Y specific. We describe evidence that this reflects insertions of autosomal sequences creating a \"Y duplication region\" or \"YDR\" whose presence probably directly reduces genetic recombination in the immediately flanking regions, although both the X and Y sex-linked regions are within a large pericentromeric region of chromosome 4 that recombines rarely in meiosis of both sexes. Sequence divergence estimates using synonymous sites indicate that YDR genes started diverging from their likely autosomal progenitors about 3 MYA, around the time when the flanking YLR stopped recombining with the XLR. These flanking regions have a higher density of repetitive sequences in the YY than the XX assembly and include slightly more pseudogenes compared with the XLR, and the YLR has lost about 11% of the ancestral genes, suggesting some degeneration. Insertion of a male-determining factor would have caused Y linkage across the entire pericentromeric region, creating physically small, highly recombining, terminal pseudoautosomal regions. These findings provide a broader understanding of the origin of sex chromosomes in spinach.
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