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Mechanisms and impacts of genomic changes that are mediated by repetitive sequences in eukaryotes. 真核生物中由重复序列介导的基因组变化的机制和影响。
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2023-01-01 DOI: 10.1266/ggs.98.101
Mariko Sasaki
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引用次数: 0
GGS Prize 2023. 2023年GGS奖。
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2023-01-01 DOI: 10.1266/ggs.98.207
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引用次数: 0
How to establish a mutually beneficial relationship between a transposon and its host: lessons from Tam3 in Antirrhinum. 如何在转座子和宿主之间建立互惠互利的关系:来自安提林的Tam3的教训。
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2022-12-17 DOI: 10.1266/ggs.22-00063
Shasha Wang, Yohei Koide, Yuji Kishima

The transposon Tam3 of Antirrhinum (snapdragon) has acquired properties that distinguish it from other transposons. Mobile DNA, commonly referred to as a transposable element or transposon, is considered to be synonymous with a selfish factor. That is, a transposable element increases in copy number and moves copies of itself independently of the survival of the host organism. Therefore, the host collectively regulates the transposition activities of most transposable elements in its genome by epigenetic means. However, our analyses of the structure and behavior of Tam3, as shown by the following five results, provide evidence that it does not behave in a selfish manner in relation to the host. 1) Active transposable elements normally increase the abundance of their non-autonomous elements, whereas Tam3 is known to have no non-autonomous elements, and a limited number of around 10 copies of autonomous elements present in the genome have been isolated as active copies. 2) Tam3 does not transpose at 25 ℃, which is the optimal growth temperature for Antirrhinum. Transposition of Tam3 occurs only at low temperatures of about 15 ℃, which is stressful for Antirrhinum. 3) Few strains of Antirrhinum have been found to contain genes that specifically suppress Tam3 transposition. 4) Most of the Tam3 insertions found in Antirrhinum genes do not affect the host genome, and the expression of these host genes is not completely suppressed. 5) Transcription and translation of the Tam3 transposase gene are not epigenetically regulated by the host. These five experimental results constitute evidence that Tam3 retains features that are dissimilar to those of many other transposons and that it does not behave in a selfish manner that is detrimental to the survival of the host. In this review, we consider what kinds of behavior are required if transposons are to establish a mutually beneficial relationship with their hosts, with reference to Tam3.

Antirrhinum (snapdragon)的转座子Tam3已经获得了与其他转座子不同的特性。移动DNA,通常被称为转座因子或转座子,被认为是自私因子的同义词。也就是说,转座因子在拷贝数上的增加和自身拷贝的移动独立于宿主生物的存活。因此,宿主通过表观遗传手段共同调控其基因组中大多数转座因子的转座活性。然而,我们对Tam3的结构和行为的分析,如以下五个结果所示,提供了证据,证明它在与宿主的关系中并不以自私的方式表现。1)活性转座元件通常会增加其非自主元件的丰度,而Tam3已知没有非自主元件,并且基因组中存在的有限数量的大约10个自主元件拷贝已被分离为活性拷贝。2) Tam3在25℃时不发生转位,这是Antirrhinum的最佳生长温度。Tam3的转位只发生在15℃左右的低温下,这对Antirrhinum来说是有压力的。3)很少有Antirrhinum菌株含有特异性抑制Tam3转位的基因。4)大部分在Antirrhinum基因中发现的Tam3插入不影响宿主基因组,这些宿主基因的表达不被完全抑制。5) Tam3转座酶基因的转录和翻译不受宿主的表观遗传调控。这五个实验结果构成证据,证明Tam3保留了与许多其他转座子不同的特征,并且它不会以一种有害于宿主生存的自私方式行事。在这篇综述中,我们以Tam3为例,探讨了转座子要与宿主建立互利关系需要哪些行为。
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引用次数: 0
Stress-responsive retrotransposable elements in conifers. 针叶树的应力响应逆转录因子。
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2022-12-17 DOI: 10.1266/ggs.22-00042
Tokuko Ujino-Ihara

Conifers are important in many forest ecosystems. They have a long generation time and are immobile; therefore, they require considerable plasticity to adapt to environmental stresses. Moreover, conifers have a large genome, a high proportion of which is occupied by repetitive elements. Retrotransposons are the most highly represented repetitive elements in conifers whose whole-genome sequences have been examined. These retrotransposons are usually silenced, to maintain genome integrity; however, some are activated by environmental stress. The insertion of retrotransposons into genic regions is associated with phenotypic and genetic diversity. The large number and high diversity of retrotransposons in conifer genomes suggest that they play a role in adaptation to the environment. In this review, progress in research on the roles of retrotransposons in the stress responses of conifers is reviewed, and potential future work is discussed.

针叶树在许多森林生态系统中都很重要。它们世代时间长,不动;因此,它们需要相当大的可塑性来适应环境应力。此外,针叶树具有较大的基因组,其中很大一部分被重复元素所占据。反转录转座子是针叶树中最具代表性的重复元件,其全基因组序列已被研究过。这些反转录转座子通常是沉默的,以保持基因组的完整性;然而,有些是由环境压力激活的。反转录转座子插入基因区域与表型和遗传多样性有关。针叶树基因组中逆转录转座子的数量和多样性表明它们在适应环境中起着重要作用。本文综述了逆转录转座子在针叶树逆境响应中的研究进展,并对今后的工作进行了展望。
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引用次数: 0
Time series clustering analysis of genes during osteogenic differentiation of human mesenchymal stem cells. 人间充质干细胞成骨分化过程基因的时间序列聚类分析。
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2022-12-17 DOI: 10.1266/ggs.22-00068
Yaqiong Li, Jun Wang

To investigate the gene expression pattern and related biological changes during osteogenic differentiation of human mesenchymal stem cells (hMSCs), we downloaded expression data for four uninduced hMSC samples, and 12 osteogenic induction samples at day 2, 8, 12 or 25, in the GSE37558 dataset. Differentially expressed genes (DEGs) between groups were screened, followed by short time-series expression miner (STEM) analysis and weighted gene co-expression network analysis (WGCNA). Osteogenic differentiation-related genes were extracted from the GeneCards database. Next, functional enrichment was performed, and protein-protein interaction (PPI) and lncRNA-miRNA-mRNA networks were constructed. Compared to uninduced hMSC samples, 163, 341, 447 and 537 DEGs were found in osteogenic induction samples at day 2, 8, 12 and 25, respectively, showing a sustainably increased trend. From STEM, WGCNA and the GeneCards database, a total of 107 key genes associated with osteogenic differentiation were screened; these genes were enriched in biological processes, such as ossification, ECM-receptor interaction, vasculature development, cartilage development and bone mineralization, as well as the Wnt signaling pathway and the chemokine signaling pathway. The PPI network identified four hub genes, STAT5A, TWIST1, FOXO1 and LEP. The lncRNA-miRNA-mRNA network revealed regulatory axes for STAT5A, FOXO1 and LEP. Three and two regulatory axes were found for STAT5A and LEP, respectively. Multiple regulatory axes for FOXO1 were found, such as MIR155HG-miR-223-FOXO1. This study identifies candidate key targets that may play important roles in regulating osteogenic differentiation of hMSCs, and provides novel information to further investigate the molecular regulation mechanism. More experiments are required to evaluate the effects of these genes on osteogenic differentiation of hMSCs.

为了研究人间充质干细胞(hMSCs)成骨分化过程中的基因表达模式和相关生物学变化,我们下载了GSE37558数据集中4个未诱导的hMSC样本和12个成骨诱导样本在第2、8、12或25天的表达数据。筛选组间差异表达基因(DEGs),进行短时间序列表达挖掘(STEM)分析和加权基因共表达网络分析(WGCNA)。从GeneCards数据库中提取成骨分化相关基因。接下来,进行功能富集,构建蛋白-蛋白相互作用(PPI)和lncRNA-miRNA-mRNA网络。与未诱导的hMSC样品相比,成骨诱导样品在第2天、第8天、第12天和第25天的温度分别为163、341、447和537℃,呈持续升高趋势。从STEM、WGCNA和GeneCards数据库中,共筛选出107个与成骨分化相关的关键基因;这些基因在骨化、ecm受体相互作用、血管发育、软骨发育、骨矿化等生物过程以及Wnt信号通路和趋化因子信号通路中富集。PPI网络鉴定出四个枢纽基因,STAT5A、TWIST1、FOXO1和LEP。lncRNA-miRNA-mRNA网络揭示了STAT5A、fox01和LEP的调控轴。STAT5A和LEP分别有3个和2个调控轴。FOXO1的多个调控轴被发现,如MIR155HG-miR-223-FOXO1。本研究确定了可能在调控hMSCs成骨分化中发挥重要作用的候选关键靶点,为进一步研究其分子调控机制提供了新的信息。需要更多的实验来评估这些基因对hMSCs成骨分化的影响。
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引用次数: 1
Whole-genome sequencing analysis of wild house mice (Mus musculus) captured in Madagascar. 在马达加斯加捕获的野生家鼠(小家鼠)的全基因组测序分析。
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2022-12-17 DOI: 10.1266/ggs.22-00090
Kazumichi Fujiwara, Marie C Ranorosoa, Satoshi D Ohdachi, Satoru Arai, Yuki Sakuma, Hitoshi Suzuki, Naoki Osada

In Madagascar, the house mouse (Mus musculus) is widely believed to have colonized with human activities and is now one of the most abundant rodents on the island. However, its genetic background at the genomic level remains unclear, and clarifying this would help us to infer the timing of introduction and route of migration. In this study, we determined the whole-genome sequences of five Madagascar house mice captured from an inland location in Madagascar. We examined the genetic background of samples by analyzing the mitochondrial and autosomal genomes. We confirmed that the mitochondrial genome lineages of collected samples formed a single clade placed at one of the most basal positions in the Mus musculus species. Autosomal genomic sequences revealed that these samples are most closely related to the subspecies M. m. castaneus (CAS), but also contain a genetic component of the subspecies M. m. domesticus (DOM). The signature of a strong population bottleneck 1,000-3,000 years ago was observed in both mitochondrial and autosomal genomic data. In a comparison with global samples of M. musculus, the Madagascar samples showed strong genetic affinity to many CAS samples across a wide range of Indian Ocean coastal and insular regions, with divergence time estimated as around 4,000 years ago. These findings support the proposition that the ancestors of these animals started to colonize the island with human agricultural activity and experienced a complex history during their establishment.

在马达加斯加,家鼠(小家鼠)被广泛认为是人类活动的殖民地,现在是岛上数量最多的啮齿动物之一。然而,它在基因组水平上的遗传背景仍不清楚,澄清这一点将有助于我们推断引入的时间和迁徙路线。在这项研究中,我们确定了从马达加斯加内陆地区捕获的5只马达加斯加家鼠的全基因组序列。我们通过分析线粒体和常染色体基因组来检查样本的遗传背景。我们证实,收集样本的线粒体基因组谱系形成了一个单一的分支,位于小家鼠物种中最基础的位置之一。常染色体基因组序列显示,这些样本与亚种M. M. castaneus (CAS)关系最密切,但也含有亚种M. M. domesticus (DOM)的遗传成分。在线粒体和常染色体基因组数据中观察到1000 - 3000年前强烈的人口瓶颈的特征。在与全球M. musculus样本的比较中,马达加斯加样本与印度洋沿海和岛屿地区的许多CAS样本显示出很强的遗传亲和力,分化时间估计在4000年前左右。这些发现支持了这样一种观点,即这些动物的祖先随着人类的农业活动开始在岛上定居,并在其建立过程中经历了复杂的历史。
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引用次数: 1
Environmental stress and transposons in plants. 植物中的环境胁迫与转座子。
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2022-12-17 DOI: 10.1266/ggs.22-00045
Hidetaka Ito

Transposons were once thought to be junk repetitive DNA in the genome. However, their importance gradually became apparent as it became clear that they regulate gene expression, which is essential for organisms to survive, and that they are important factors in the driving force of evolution. Since there are multiple transposons in the genomes of all organisms, transposons have likely been activated and increased in copy number throughout their long history. This review focuses on environmental stress as a factor in transposon activation, paying particular attention to transposons in plants that are activated by environmental stresses. It is now known that plants respond to environmental stress in various ways, and correspondingly, many transposons respond to stress. The relationship between environmental stress and transposons is reviewed, including the mechanisms of their activation and the effects of transposon activation on host plants.

转座子曾被认为是基因组中的垃圾重复DNA。然而,它们的重要性逐渐变得明显,因为它们调节基因表达,这是生物体生存所必需的,它们是推动进化的重要因素。由于所有生物体的基因组中都存在多个转座子,因此转座子可能在其漫长的历史中被激活并增加拷贝数。本文综述了环境胁迫作为转座子激活的一个因素,特别关注植物中被环境胁迫激活的转座子。目前已知植物对环境胁迫有多种反应方式,相应的,许多转座子对胁迫也有反应。本文综述了环境胁迫与转座子的关系,包括转座子的激活机制以及转座子的激活对寄主植物的影响。
{"title":"Environmental stress and transposons in plants.","authors":"Hidetaka Ito","doi":"10.1266/ggs.22-00045","DOIUrl":"https://doi.org/10.1266/ggs.22-00045","url":null,"abstract":"<p><p>Transposons were once thought to be junk repetitive DNA in the genome. However, their importance gradually became apparent as it became clear that they regulate gene expression, which is essential for organisms to survive, and that they are important factors in the driving force of evolution. Since there are multiple transposons in the genomes of all organisms, transposons have likely been activated and increased in copy number throughout their long history. This review focuses on environmental stress as a factor in transposon activation, paying particular attention to transposons in plants that are activated by environmental stresses. It is now known that plants respond to environmental stress in various ways, and correspondingly, many transposons respond to stress. The relationship between environmental stress and transposons is reviewed, including the mechanisms of their activation and the effects of transposon activation on host plants.</p>","PeriodicalId":12690,"journal":{"name":"Genes & genetic systems","volume":"97 4","pages":"169-175"},"PeriodicalIF":1.1,"publicationDate":"2022-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10749859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Euchromatin factors HULC and Set1C affect heterochromatin organization and mating-type switching in fission yeast Schizosaccharomyces pombe. 常染色质因子HULC和Set1C影响裂糖酵母异染色质组织和交配型转换。
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2022-10-18 DOI: 10.1266/ggs.22-00012
Alfredo Esquivel-Chávez, Takahisa Maki, Hideo Tsubouchi, Testuya Handa, Hiroshi Kimura, James E Haber, Geneviève Thon, Hiroshi Iwasaki

Mating-type (P or M) of fission yeast Schizosaccharomyces pombe is determined by the transcriptionally active mat1 cassette and is switched by gene conversion using a donor, either mat2 or mat3, located in an adjacent heterochromatin region (mating-type switching; MTS). In the switching process, heterochromatic donors of genetic information are selected based on the P or M cell type and on the action of two recombination enhancers, SRE2 promoting the use of mat2-P and SRE3 promoting the use of mat3-M, leading to replacement of the content of the expressed mat1 cassette. Recently, we found that the histone H3K4 methyltransferase complex Set1C participates in donor selection, raising the question of how a complex best known for its effects in euchromatin controls recombination in heterochromatin. Here, we report that the histone H2BK119 ubiquitin ligase complex HULC functions with Set1C in MTS, as mutants in the shf1, brl1, brl2 and rad6 genes showed defects similar to Set1C mutants and belonged to the same epistasis group as set1Δ. Moreover, using H3K4R and H2BK119R histone mutants and a Set1-Y897A catalytic mutant, we found that ubiquitylation of histone H2BK119 by HULC and methylation of histone H3K4 by Set1C are functionally coupled in MTS. Cell-type biases in MTS in these mutants suggested that HULC and Set1C inhibit the use of the SRE3 recombination enhancer in M cells, thus favoring SRE2 and mat2-P. Consistent with this, imbalanced switching in the mutants was traced to compromised association of the directionality factor Swi6 with the recombination enhancers in M cells. Based on their known effects at other chromosomal locations, we speculate that HULC and Set1C control nucleosome mobility and strand invasion near the SRE elements. In addition, we uncovered distinct effects of HULC and Set1C on histone H3K9 methylation and gene silencing, consistent with additional functions in the heterochromatic domain.

裂糖酵母(Schizosaccharomyces pombe)的交配型(P或M)由转录活性的mat1盒决定,并通过位于相邻异染色质区域的供体mat2或mat3的基因转换来切换(交配型切换;MTS)。在转换过程中,根据P或M细胞类型以及两种重组增强子(SRE2促进mat2-P的使用,SRE3促进mat3-M的使用)的作用选择遗传信息的异色供体,导致表达的mat1盒的内容被替换。最近,我们发现组蛋白H3K4甲基转移酶复合物Set1C参与供体选择,提出了一个以其在常染色质中的作用而闻名的复合物如何控制异染色质中的重组的问题。在这里,我们报道了组蛋白H2BK119泛素连接酶复合体HULC在MTS中与Set1C一起起作用,因为shf1、brl1、brl2和rad6基因的突变体表现出与Set1C突变体相似的缺陷,并且与set1Δ属于同一组。此外,利用H3K4R和H2BK119R组蛋白突变体以及Set1-Y897A催化突变体,我们发现在MTS中,HULC对组蛋白H2BK119的泛素化和Set1C对组蛋白H3K4的甲基化在功能上偶联,这些突变体在MTS中的细胞类型偏倚表明,HULC和Set1C抑制了M细胞中SRE3重组增强子的使用,从而有利于SRE2和mat2-P。与此一致,突变体中的不平衡开关可追溯到M细胞中方向性因子Swi6与重组增强子的关联受损。基于它们在其他染色体位置的已知作用,我们推测HULC和Set1C控制核小体的流动性和SRE元件附近的链入侵。此外,我们发现了HULC和Set1C对组蛋白H3K9甲基化和基因沉默的明显影响,这与异色结构域的其他功能一致。
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引用次数: 0
Role of Error Catastrophe in Transmission Ability of Virus 错误突变在病毒传播能力中的作用
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2022-07-04 DOI: 10.1101/2022.06.28.22276997
N. Takahata, Hirotaka Sugawara
The role played by "error catastrophe" is explicitly taken into account in the mathematical formulation to analyze the COVID-19 data. The idea is to combine the mathematical genetics formalism of the error catastrophe of mutations in the virus gene loci with the standard model of epidemics which lacks the explicit incorporation of the mutation effect on the spreading of the viruses. We apply the formalism to the case of SARS-CoV-2 virus. We assume the "universality" of the error catastrophe in the process of analyzing the data. This means that some basic parameter to describe the error catastrophe is independent of which group (country or city) we deal with. Concretely, we analyze the omicron data of South Africa and then analyze the cases of Japan using the same value of the basic parameter derived in the South Africa analysis. The result shows the validity of our universality assumption.
在分析新冠肺炎数据的数学公式中,明确考虑了“错误灾难”所扮演的角色。其想法是将病毒基因座突变的错误突变的数学遗传学形式与流行病的标准模型相结合,后者缺乏对病毒传播的突变效应的明确结合。我们将形式主义应用于严重急性呼吸系统综合征冠状病毒2型的病例。在分析数据的过程中,我们假设了误差突变的“普遍性”。这意味着,描述误差突变的一些基本参数与我们处理的群体(国家或城市)无关。具体来说,我们分析了南非的奥密克戎数据,然后使用南非分析中得出的基本参数的相同值分析了日本的病例。结果表明了我们的普遍性假设的有效性。
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引用次数: 0
S100A9 and SOCS3 as diagnostic biomarkers of acute myocardial infarction and their association with immune infiltration. S100A9和SOCS3作为急性心肌梗死的诊断性生物标志物及其与免疫浸润的关系
IF 1.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Pub Date : 2022-06-09 DOI: 10.1266/ggs.21-00073
Ze-Liang Lin, Yan-Cun Liu, Yu-lei Gao, Xinsen Chen, Chao Wang, Song-Tao Shou, Y. Chai
Acute myocardial infarction (AMI) is one of the leading causes of death globally, with a mortality rate of over 20%. However, the diagnostic biomarkers frequently used in current clinical practice have limitations in both sensitivity and specificity, likely resulting in delayed diagnosis. This study aimed to identify potential diagnostic biomarkers for AMI and explored the possible mechanisms involved. Datasets were retrieved from the Gene Expression Omnibus. First, we identified differentially expressed genes (DEGs) and preserved modules, from which we identified candidate genes by LASSO (least absolute shrinkage and selection operator) regression and the SVM-RFE (support vector machine-recursive feature elimination) algorithm. Subsequently, we used ROC (receiver operating characteristic) analysis to evaluate the diagnostic accuracy of the candidate genes. Thereafter, functional enrichment analysis and an analysis of immune infiltration were implemented. Finally, we assessed the association between biomarkers and biological processes, infiltrated cells, clinical traits, tissues and time points. We identified nine preserved modules containing 1,016 DEGs and managed to construct a diagnostic model with high accuracy (GSE48060: AUC = 0.923; GSE66360: AUC = 0.973) incorporating two genes named S100A9 and SOCS3. Functional analysis revealed the pivotal role of inflammation; immune infiltration analysis indicated that eight cell types (monocytes, epithelial cells, neutrophils, CD8+ T cells, Th2 cells, NK cells, NKT cells and platelets) were likely involved in AMI. Furthermore, we observed that S100A9 and SOCS3 were correlated with inflammation, variably infiltrated cells, clinical traits of patients, sampling tissues and sampling time points. In conclusion, we suggested S100A9 and SOCS3 as diagnostic biomarkers of AMI and discovered their association with inflammation, infiltrated immune cells and other factors.
急性心肌梗死(AMI)是全球死亡的主要原因之一,死亡率超过20%。然而,当前临床实践中经常使用的诊断生物标志物在敏感性和特异性方面都有局限性,可能导致诊断延迟。本研究旨在确定AMI的潜在诊断生物标志物,并探讨其可能的机制。从基因表达综合数据库中检索数据集。首先,我们鉴定了差异表达基因(DEG)和保留的模块,并通过LASSO(最小绝对收缩和选择算子)回归和SVM-RFE(支持向量机递归特征消除)算法从中鉴定了候选基因。随后,我们使用ROC(受体操作特征)分析来评估候选基因的诊断准确性。此后,进行功能富集分析和免疫浸润分析。最后,我们评估了生物标志物与生物学过程、浸润细胞、临床特征、组织和时间点之间的关系。我们鉴定了9个含有1016个DEG的保存模块,并成功构建了一个高准确度的诊断模型(GSE48060:AUC=0.923;GSE66360:AUC=0.0973),该模型包含两个名为S100A9和SOCS3的基因。功能分析揭示了炎症的关键作用;免疫浸润分析表明,8种细胞类型(单核细胞、上皮细胞、中性粒细胞、CD8+T细胞、Th2细胞、NK细胞、NKT细胞和血小板)可能参与AMI。此外,我们观察到S100A9和SOCS3与炎症、可变浸润细胞、患者的临床特征、采样组织和采样时间点相关。总之,我们建议S100A9和SOCS3作为AMI的诊断生物标志物,并发现它们与炎症、浸润的免疫细胞和其他因素有关。
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引用次数: 1
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