transposable elements

转座因子
  • 文章类型: Journal Article
    转座因子(TE)是可以在基因组中移动或复制的DNA序列,他们的研究在理解基因组进化和功能方面变得越来越重要。Tridactylidae家族,包括Xyariparia(侏儒痣板球),藏有各种未得到充分研究的转座因子(TE)。需要进一步研究以充分了解它们的多样性和进化特征。因此,我们使用染色体水平的组装基因组对X.riparia物种进行了全面的重复性分析.这项研究旨在全面分析丰度,分布,和基因组中转座因子(TE)的年龄。结果表明,基因组为1.67Gb,具有731.63Mb的重复序列,占II类(443.25Mb)的27%,I类的16%(268.45Mb),和1%的未知TEs(19.92Mb)。研究发现DNA转座子在基因组中占主导地位,约占总重复大小的60%,逆转录转座子和未知元素占基因组的37%和3%,分别。吉普赛超家族的成员是反转录转座子中最丰富的,占其中的63%。转座超家族(LTR/吉普赛,DNA/nMITE,DNA/hAT,和DNA/Helitron)共同构成了所有六个染色体总重复大小的近70%。该研究进一步揭示了染色体大小与重复序列之间的显着线性相关(皮尔逊相关:r=0.99,p值=0.00003)。DNA转座子和反转录转座子插入的平均年龄从25My(百万年)到5My。卫星组分析发现了13个卫星DNA家族,约占整个基因组的0.15%。此外,TEs的转录分析发现,DNA转座子比逆转录转座子更具转录活性。总的来说,这项研究表明,里帕里亚的基因组很复杂,以相当大一部分的重复元素为特征。这些发现不仅增强了我们对Tridactylidae家族中TE进化的理解,而且为未来对相关物种基因组复杂性的研究奠定了基础。
    Transposable elements (TEs) are DNA sequences that can move or replicate within a genome, and their study has become increasingly important in understanding genome evolution and function. The Tridactylidae family, including Xya riparia (pygmy mole cricket), harbors a variety of transposable elements (TEs) that have been insufficiently investigated. Further research is required to fully understand their diversity and evolutionary characteristics. Hence, we conducted a comprehensive repeatome analysis of X. riparia species using the chromosome-level assembled genome. The study aimed to comprehensively analyze the abundance, distribution, and age of transposable elements (TEs) in the genome. The results indicated that the genome was 1.67 Gb, with 731.63 Mb of repetitive sequences, comprising 27% of Class II (443.25 Mb), 16% of Class I (268.45 Mb), and 1% of unknown TEs (19.92 Mb). The study found that DNA transposons dominate the genome, accounting for approximately 60% of the total repeat size, with retrotransposons and unknown elements accounting for 37% and 3% of the genome, respectively. The members of the Gypsy superfamily were the most abundant amongst retrotransposons, accounting for 63% of them. The transposable superfamilies (LTR/Gypsy, DNA/nMITE, DNA/hAT, and DNA/Helitron) collectively constituted almost 70% of the total repeat size of all six chromosomes. The study further unveiled a significant linear correlation (Pearson correlation: r = 0.99, p-value = 0.00003) between the size of the chromosomes and the repetitive sequences. The average age of DNA transposon and retrotransposon insertions ranges from 25 My (million years) to 5 My. The satellitome analysis discovered 13 satellite DNA families that comprise about 0.15% of the entire genome. In addition, the transcriptional analysis of TEs found that DNA transposons were more transcriptionally active than retrotransposons. Overall, the study suggests that the genome of X. riparia is complex, characterized by a substantial portion of repetitive elements. These findings not only enhance our understanding of TE evolution within the Tridactylidae family but also provide a foundation for future investigations into the genomic intricacies of related species.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    非模式生物的基因组资源开发正在迅速发展,寻求揭示分子机制和进化适应,从而在不同的环境中蓬勃发展。蝙蝠物种有限的基因组数据阻碍了对其进化过程的认识,特别是在Vespertilionidae家族的各种Myotis属中。在墨西哥,有15种Myotis,与三MVivesi,M.Findleyi,和M.planiceps-是地方性和保护关注。
    我们获得了Myotisvevesi的样本,M.Findleyi,和M.planiceps进行基因组分析。提取三个基因组DNA中的每一个,测序,和组装。通过ntJoin程序内的基因组参考方法,利用Yumanensis基因组进行支架。GapCloser被用来填补空白。重复元素被表征,基因预测是通过MAKER管道的从头算和同源性方法进行的。功能注释涉及InterproScan,BLASTp,和KEGG。非编码RNA用INFERNAL注释,和tRNAscan-SE。使用Orthofinder对直系同源基因进行聚类,并使用IQ-TREE重建了系统发育树。
    我们使用IlluminaNovaSeq6000展示了这些特有物种的基因组组装,每个都超过2.0Gb,根据BUSCO分析,超过90%代表单拷贝基因。转座元素,包括线路和犯罪,占每个基因组的30%以上。Helitron,与Vespertilionids一致,已确定。来自三个组件中每一个的约20,000个基因的值来自基因注释及其与特定功能的相关性。八个Myotis物种之间的直系同源物的比较分析显示20,820组,4,789是单副本正交组。注释了非编码RNA元件。系统发育树分析支持进化翼龙关系。这些资源大大有助于理解基因进化,多样化模式,并协助保护这些濒临灭绝的蝙蝠物种。
    UNASSIGNED: Genomic resource development for non-model organisms is rapidly progressing, seeking to uncover molecular mechanisms and evolutionary adaptations enabling thriving in diverse environments. Limited genomic data for bat species hinder insights into their evolutionary processes, particularly within the diverse Myotis genus of the Vespertilionidae family. In Mexico, 15 Myotis species exist, with three-M. vivesi, M. findleyi, and M. planiceps-being endemic and of conservation concern.
    UNASSIGNED: We obtained samples of Myotis vivesi, M. findleyi, and M. planiceps for genomic analysis. Each of three genomic DNA was extracted, sequenced, and assembled. The scaffolding was carried out utilizing the M. yumanensis genome via a genome-referenced approach within the ntJoin program. GapCloser was employed to fill gaps. Repeat elements were characterized, and gene prediction was done via ab initio and homology methods with MAKER pipeline. Functional annotation involved InterproScan, BLASTp, and KEGG. Non-coding RNAs were annotated with INFERNAL, and tRNAscan-SE. Orthologous genes were clustered using Orthofinder, and a phylogenomic tree was reconstructed using IQ-TREE.
    UNASSIGNED: We present genome assemblies of these endemic species using Illumina NovaSeq 6000, each exceeding 2.0 Gb, with over 90% representing single-copy genes according to BUSCO analyses. Transposable elements, including LINEs and SINEs, constitute over 30% of each genome. Helitrons, consistent with Vespertilionids, were identified. Values around 20,000 genes from each of the three assemblies were derived from gene annotation and their correlation with specific functions. Comparative analysis of orthologs among eight Myotis species revealed 20,820 groups, with 4,789 being single copy orthogroups. Non-coding RNA elements were annotated. Phylogenomic tree analysis supported evolutionary chiropterans\' relationships. These resources contribute significantly to understanding gene evolution, diversification patterns, and aiding conservation efforts for these endangered bat species.
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    DNA测序技术的最新进展使非模型生物的基因组能够精确解码,为揭示性染色体进化的模式和机制提供依据。关于性染色体通过Y(或W)染色体的有害突变的积累和变性从常染色体进化而来的传统理论,对不同物种的研究产生了相互矛盾的结果。性染色体周期的概念,\'从这个上下文中出现,假定在周期的任何阶段(即,分化,变性,或损失),性染色体周转可以在保持稳定的性别决定的同时发生。因此,了解在周期的每个阶段驱动性染色体的持久性和周转的机制至关重要。在这次审查中,我们整合了最近关于维护和周转机制的调查结果,特别关注几种具有独特性染色体的生物。我们的评论表明,在维持稳定的性别决定中,性染色体的多样性被低估了,并强调需要对性染色体周期进行更多研究。
    Recent advances in DNA sequencing technology have enabled the precise decoding of genomes in non-model organisms, providing a basis for unraveling the patterns and mechanisms of sex chromosome evolution. Studies of different species have yielded conflicting results regarding the traditional theory that sex chromosomes evolve from autosomes via the accumulation of deleterious mutations and degeneration of the Y (or W) chromosome. The concept of the \'sex chromosome cycle,\' emerging from this context, posits that at any stage of the cycle (i.e., differentiation, degeneration, or loss), sex chromosome turnover can occur while maintaining stable sex determination. Thus, understanding the mechanisms that drive both the persistence and turnover of sex chromosomes at each stage of the cycle is crucial. In this review, we integrate recent findings on the mechanisms underlying maintenance and turnover, with a special focus on several organisms having unique sex chromosomes. Our review suggests that the diversity of sex chromosomes in the maintenance of stable sex determination is underappreciated and emphasizes the need for more research on the sex chromosome cycle.
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    染色质动力学在转录调控中起重要作用。色域解旋酶DNA结合域3(CHD3)染色质重塑因子PICKLE(PKL)和HISTONEDEACETYLASE6(HDA6)是转录基因沉默所必需的,但是它们在基因抑制中的协调功能需要进一步研究。通过基因抑制筛选,我们发现,PKL的点突变可以部分恢复弱Polycomb抑制复合物1(PRC1)突变体(ring1a-2ring1b-3)的发育缺陷,其中RING1A表达被启动子处的T-DNA插入抑制。与ring1a-2ring1b-3相比,RING1A的表达增加,核小体占用减少,在pklring1a-2ring1b-3三重突变体中,RING1A基因座的组蛋白3赖氨酸9乙酰化(H3K9ac)水平增加。HDA6与PKL相互作用,并在环1a-2环1b-3背景中与PKL在遗传和分子上相似地抑制RING1A表达。此外,我们显示PKL和HDA6通过增加核小体密度和减少H3K9ac来抑制一组基因和转座因子(TE)的表达。全基因组分析表明,它们也可能协调维持DNA甲基化。我们的研究结果表明,PKL和HDA6共同发挥作用,以减少H3K9ac和增加核小体占有率,从而促进拟南芥(拟南芥)中的基因/TE调控。
    Chromatin dynamics play essential roles in transcriptional regulation. The chromodomain helicase DNA-binding domain 3 (CHD3) chromatin remodeler PICKLE (PKL) and HISTONE DEACETYLASE6 (HDA6) are required for transcriptional gene silencing, but their coordinated function in gene repression requires further study. Through a genetic suppressor screen, we found that a point mutation at PKL could partially restore the developmental defects of a weak Polycomb repressive complex 1 (PRC1) mutant (ring1a-2 ring1b-3), in which RING1A expression is suppressed by a T-DNA insertion at the promoter. Compared to ring1a-2 ring1b-3, the expression of RING1A is increased, nucleosome occupancy is reduced, and the histone 3 lysine 9 acetylation (H3K9ac) level is increased at the RING1A locus in the pkl ring1a-2 ring1b-3 triple mutant. HDA6 interacts with PKL and represses RING1A expression similarly to PKL genetically and molecularly in the ring1a-2 ring1b-3 background. Furthermore, we show that PKL and HDA6 suppress the expression of a set of genes and transposable elements (TEs) by increasing nucleosome density and reducing H3K9ac. Genome-wide analysis indicated they possibly coordinately maintain DNA methylation as well. Our findings suggest that PKL and HDA6 function together to reduce H3K9ac and increase nucleosome occupancy, thereby facilitating gene/TE regulation in Arabidopsis (Arabidopsis thaliana).
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    背景:转座因子在维持神经发育过程中的基因组结构中起着关键作用。短散布核元素(SINE),转座因子的主要亚型,已知具有CCCTC结合因子(CTCF)的结合位点,并且在协调染色质组织中至关重要。然而,在发育中的大脑中控制SINE活性的调节机制仍然难以捉摸。
    结果:在我们的研究中,我们使用ATAC-seq对小鼠神经前体细胞进行了全面的全基因组表观遗传分析,ChIP-seq,全基因组亚硫酸氢盐测序,就地Hi-C,和RNA-seq。我们的发现表明,SET结构域分叉的组蛋白赖氨酸甲基转移酶1(SETDB1)介导的H3K9me3与DNA甲基化结合,限制了神经前体细胞中选择性SINE子集的染色质可及性。机械上,Settb1的丢失会增加CTCF对这些SINE元素的访问,并有助于染色质环的重组。此外,从头环形成有助于差异基因表达,包括有丝分裂途径中富集的基因的失调。这导致在体外和体内对Setdb1进行遗传消融后胚胎脑中细胞增殖的破坏。
    结论:总之,我们的研究揭示了小鼠神经前体细胞中SINE的表观遗传调控,提示它们在维持神经发育过程中染色质组织和细胞增殖中的作用。
    BACKGROUND: Transposable elements play a critical role in maintaining genome architecture during neurodevelopment. Short Interspersed Nuclear Elements (SINEs), a major subtype of transposable elements, are known to harbor binding sites for the CCCTC-binding factor (CTCF) and pivotal in orchestrating chromatin organization. However, the regulatory mechanisms controlling the activity of SINEs in the developing brain remains elusive.
    RESULTS: In our study, we conduct a comprehensive genome-wide epigenetic analysis in mouse neural precursor cells using ATAC-seq, ChIP-seq, whole genome bisulfite sequencing, in situ Hi-C, and RNA-seq. Our findings reveal that the SET domain bifurcated histone lysine methyltransferase 1 (SETDB1)-mediated H3K9me3, in conjunction with DNA methylation, restricts chromatin accessibility on a selective subset of SINEs in neural precursor cells. Mechanistically, loss of Setdb1 increases CTCF access to these SINE elements and contributes to chromatin loop reorganization. Moreover, de novo loop formation contributes to differential gene expression, including the dysregulation of genes enriched in mitotic pathways. This leads to the disruptions of cell proliferation in the embryonic brain after genetic ablation of Setdb1 both in vitro and in vivo.
    CONCLUSIONS: In summary, our study sheds light on the epigenetic regulation of SINEs in mouse neural precursor cells, suggesting their role in maintaining chromatin organization and cell proliferation during neurodevelopment.
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  • 文章类型: Journal Article
    转座因子(TE)是病毒衍生的可移动遗传模块,已被选择成为哺乳动物基因表达的调节剂。TEs是内源性dsRNAs的主要来源,信号分子能够协调各种生理过程中的炎症反应。这里,我们提供了TEs积极参与炎症驱动的骨修复和矿化的证据.在新骨折的老鼠骨头中,我们观察到与炎症阶段开始同时发生的重复序列的早期短暂上调.在人体骨活检中,分析显示重复表达之间存在显著相关性,机械应力和骨密度。我们通过将合成的L1RNA递送至骨质疏松患者来源的间充质干细胞,研究了LINE-1(L1)表达与骨矿化之间的潜在联系,并观察到dsRNA触发的蛋白激酶(PKR)介导的应激反应,导致强烈增加的矿化。这种反应与强烈和短暂的炎症有关,伴随着由eIF2α磷酸化诱导的整体翻译衰减。我们证明了L1转染重塑了成骨细胞的分泌谱,触发刺激受体细胞矿化的旁分泌活动。
    Transposable elements (TEs) are mobile genetic modules of viral derivation that have been co-opted to become modulators of mammalian gene expression. TEs are a major source of endogenous dsRNAs, signaling molecules able to coordinate inflammatory responses in various physiological processes. Here, we provide evidence for a positive involvement of TEs in inflammation-driven bone repair and mineralization. In newly fractured mice bone, we observed an early transient upregulation of repeats occurring concurrently with the initiation of the inflammatory stage. In human bone biopsies, analysis revealed a significant correlation between repeats expression, mechanical stress and bone mineral density. We investigated a potential link between LINE-1 (L1) expression and bone mineralization by delivering a synthetic L1 RNA to osteoporotic patient-derived mesenchymal stem cells and observed a dsRNA-triggered protein kinase (PKR)-mediated stress response that led to strongly increased mineralization. This response was associated with a strong and transient inflammation, accompanied by a global translation attenuation induced by eIF2α phosphorylation. We demonstrated that L1 transfection reshaped the secretory profile of osteoblasts, triggering a paracrine activity that stimulated the mineralization of recipient cells.
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  • 文章类型: Journal Article
    转座元件(TE),占人类基因组的近50%,已经从被视为“基因组垃圾”转变为癌症进展的关键参与者。当代研究将TE监管中断与癌症发展联系起来,强调他们的治疗潜力。长读数测序的进展,计算分析,单细胞测序,蛋白质组学,和CRISPR-Cas9技术丰富了我们对TEs临床意义的理解,尤其是它们对基因组结构的影响,基因调控,和进化过程。在癌症中,TEs,包括LINE-1,Alus,和LTR,展示改变的模式,影响致瘤机制和肿瘤抑制机制。TE来源的核酸和肿瘤抗原在肿瘤免疫中起关键作用,桥接先天和适应性反应。鉴于它们在肿瘤学中的核心作用,TE靶向治疗,特别是通过逆转录酶抑制剂和表观遗传调节剂,代表了癌症治疗的新途径。将这些以TE为中心的策略与现有的化疗或免疫治疗方案相结合可以提高疗效,并为癌症治疗提供新的维度。这篇综述深入研究了最近的TE检测进展,探索它们在肿瘤发生和免疫调节中的多方面作用,讨论以TE为中心的新兴诊断和治疗方法,并预测癌症研究的未来方向。
    Transposable elements (TEs), comprising nearly 50% of the human genome, have transitioned from being perceived as \"genomic junk\" to key players in cancer progression. Contemporary research links TE regulatory disruptions with cancer development, underscoring their therapeutic potential. Advances in long-read sequencing, computational analytics, single-cell sequencing, proteomics, and CRISPR-Cas9 technologies have enriched our understanding of TEs\' clinical implications, notably their impact on genome architecture, gene regulation, and evolutionary processes. In cancer, TEs, including long interspersed element-1 (LINE-1), Alus, and long terminal repeat (LTR) elements, demonstrate altered patterns, influencing both tumorigenic and tumor-suppressive mechanisms. TE-derived nucleic acids and tumor antigens play critical roles in tumor immunity, bridging innate and adaptive responses. Given their central role in oncology, TE-targeted therapies, particularly through reverse transcriptase inhibitors and epigenetic modulators, represent a novel avenue in cancer treatment. Combining these TE-focused strategies with existing chemotherapy or immunotherapy regimens could enhance efficacy and offer a new dimension in cancer treatment. This review delves into recent TE detection advancements, explores their multifaceted roles in tumorigenesis and immune regulation, discusses emerging diagnostic and therapeutic approaches centered on TEs, and anticipates future directions in cancer research.
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    从头基因通过连续突变从基因组的非编码区出现。其中,这种突变激活转录并创建新的开放阅读框(ORF)。尽管ORF出现的潜在机制是有据可查的,对促成新转录事件的机制知之甚少。然而,在许多物种中,已经报道了几乎所有基因组区域的转录缺失和非常突出之间的连续体。在这项研究中,我们通过使用新组装的基因组和七个黑腹果蝇近交系的转录组来搜索从头转录本,起源于六个欧洲人和一个非洲人。这种设置使我们能够检测样本特异性从头转录本,并将它们与其他样本中的同源非转录区域进行比较,以及基因和基因间控制序列。我们研究了与转座因子的关联以及从头出现的转录本上游转录因子基序的富集,并将其与调控元件进行了比较。我们发现从头转录本与TE重叠的频率比偶然预期的要高。新转录物的出现与高GC含量和TE表达的区域相关。此外,从头转录本的上游区域高度富含调控基序。这样的主题在与TE重叠的新转录物中更加丰富,特别是DNATEs,与上游的“非转录同源物”相比,上游的从头转录本更保守。总的来说,我们的研究表明,TE插入对转录本的出现很重要,部分是通过从DNATE家族引入新的调控基序。
    De novo genes emerge from non-coding regions of genomes via succession of mutations. Among others, such mutations activate transcription and create a new open reading frame (ORF). Although the mechanisms underlying ORF emergence are well documented, relatively little is known about the mechanisms enabling new transcription events. Yet, in many species a continuum between absent and very prominent transcription has been reported for essentially all regions of the genome. In this study we searched for de novo transcripts by using newly assembled genomes and transcriptomes of seven inbred lines of Drosophila melanogaster, originating from six European and one African population. This setup allowed us to detect sample specific de novo transcripts, and compare them to their homologous non-transcribed regions in other samples, as well as genic and intergenic control sequences. We studied the association with transposable elements and the enrichment of transcription factor motifs upstream of de novo emerged transcripts and compared them with regulatory elements. We found that de novo transcripts overlap with TEs more often than expected by chance. The emergence of new transcripts correlates with regions of high GC content and TE expression. Moreover, upstream regions of de novo transcripts are highly enriched with regulatory motifs. Such motifs are more enriched in new transcripts overlapping with TEs, particularly DNA TEs, and are more conserved upstream de novo transcripts than upstream their \'non-transcribed homologs\'. Overall, our study demonstrates that TE insertion is important for transcript emergence, partly by introducing new regulatory motifs from DNA TE families.
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  • 文章类型: Journal Article
    木本植物创造了它们占据的生态系统,并塑造了它们的生物多样性。今天迅速变暖的气候通过创造新的环境来威胁这些长寿的物种,在这些环境中现有的种群变得适应不良。植物对环境变化的反应表现出巨大的表型多样性,这可能是由影响基础DNA序列表达的基因型或表观遗传机制引起的。表观遗传学是否会影响树木的生态重要性状是一个重要且有争议的问题。我们探索DNA甲基化可以影响基因表达的证据,通过其与转座因子(TE)的相互作用直接和间接,并随后在自然树种群中形成表型变异。此外,我们考虑了表观遗传学方法在其保护管理策略中的潜力。
    Woody plants create the ecosystems they occupy and shape their biodiversity. Today\'s rapidly warming climate threatens these long-lived species by creating new environments in which existing populations become maladapted. Plants show enormous phenotypic diversity in response to environmental change, which can be caused by genotype or epigenetic mechanisms that influence the expression of the underlying DNA sequence. Whether epigenetics can affect ecologically important traits in trees is an important and controversial question. We explore the evidence that DNA methylation can affect gene expression, both directly and indirectly via its interaction with transposable elements (TEs), and subsequently shapes phenotypic variation in natural tree populations. Furthermore, we consider the potential of epigenetic approaches to assist in their conservation management strategies.
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