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Complete genome sequence of Pseudarthrobacter sp. NIBRBAC000502770 from coal mine of Hongcheon on Republic of Korea. 韩国洪川煤矿产假节杆菌sp. NIBRBAC000502770全基因组序列。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2025-01-17 DOI: 10.1186/s12863-025-01300-x
Min-Kyu Park, Yeong-Jun Park, Myung-Suk Kang, Min-Ha Kim, Soo-Young Kim, Jae-Ho Shin

Objectives: The data were collected to obtain the complete genome sequence of Pseudarthrobacter sp. NIBRBAC000502770, isolated from the rhizosphere of Sasamorpha in a heavy metal-contaminated coal mine in Hongcheon, Republic of Korea. The objective was to explore the strain's genetic potential for plant growth promotion and heavy metal resistance, particularly arsenate and copper. The aim focused on identifying microbes that enhance plant growth in metal-tolerant environments and evaluating the strain's bioremediation and agricultural uses. This study sought key genes for bioremediation and agricultural applications in contaminated soils, aiding sustainable management and biotechnology.

Data description: We report the complete genome sequence of Pseudarthrobacter sp. NIBRBAC000502770, isolated from a coal mine in Hongcheon, Republic of Korea. The genome contains a chromosome (4,403,796 bp) and a plasmid (74,326 bp, named pMK-1) with 286-fold coverage. Genome annotation identified 4,209 genes, including 3,926 protein-coding genes, 51 tRNA genes, and 15 rRNA genes, with a G + C content of 66.1%. Functional analysis revealed genes related to plant growth promotion and heavy metal resistance, such as arsenate (arsR, arsC) and copper (copC, copD) resistance genes. Genes involved in auxin biosynthesis suggest potential agricultural applications. The genome and plasmid are available in GenBank (CP041198.1, CP014497.1), offering insights into bioremediation and plant growth in metal-contaminated environments.

目的:收集韩国洪川某重金属污染煤矿Sasamorpha根际分离的假节杆菌sp. NIBRBAC000502770的全基因组序列。目的是探索该菌株促进植物生长和抗重金属(特别是砷酸盐和铜)的遗传潜力。目的集中在鉴定在耐金属环境中促进植物生长的微生物,并评估该菌株的生物修复和农业用途。本研究旨在寻找污染土壤生物修复和农业应用的关键基因,为可持续管理和生物技术提供帮助。数据描述:我们报道了从韩国洪川煤矿分离到的假节杆菌sp. NIBRBAC000502770的全基因组序列。基因组包含一条染色体(4,403,796 bp)和一个质粒(74,326 bp,命名为pMK-1),覆盖286倍。基因组注释鉴定出4209个基因,其中蛋白编码基因3926个,tRNA基因51个,rRNA基因15个,G + C含量为66.1%。功能分析发现了促进植物生长和抗重金属的相关基因,如砷酸盐(arsR, arsC)和铜(copC, copD)抗性基因。参与生长素生物合成的基因具有潜在的农业应用价值。基因组和质粒可在GenBank (CP041198.1, CP014497.1)中获得,为金属污染环境下的生物修复和植物生长提供了见解。
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引用次数: 0
Establishing a GRU-GCN coordination-based prediction model for miRNA-disease associations. 建立基于GRU-GCN协调的mirna -疾病关联预测模型。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2025-01-14 DOI: 10.1186/s12863-024-01293-z
Kai-Cheng Chuang, Ping-Sung Cheng, Yu-Hung Tsai, Meng-Hsiun Tsai

Background: miRNAs (microRNAs) are endogenous RNAs with lengths of 18 to 24 nucleotides and play critical roles in gene regulation and disease progression. Although traditional wet-lab experiments provide direct evidence for miRNA-disease associations, they are often time-consuming and complicated to analyze by current bioinformatics tools. In recent years, machine learning (ML) and deep learning (DL) techniques are powerful tools to analyze large-scale biological data. Hence, developing a model to predict, identify, and rank connections in miRNAs and diseases can significantly enhance the precision and efficiency in investigating the relationships between miRNAs and diseases.

Results: In this study, we utilized miRNA-disease association data obtained by biotechnological experiments to develop a DL model for miRNA-disease associations. To improve the accuracy of prediction in this model, we introduced two labeling strategies, weight-based and majority-based definitions, to classify miRNA-disease associations. After preprocessing, data was trained with a novel model combining gated recurrent units (GRU) and graph convolutional network (GCN) to predict the level of miRNA-disease associations. The miRNA-disease association datasets were from HMDD (the Human miRNA Disease Database) and categorized by two distinct labeling approaches, weight-based definitions and majority-based definitions. We classified the miRNA-disease associations into three groups, "upregulated", "downregulated" and "nonspecific", by regression analysis and multiclass classification. This GRU-GCN coordinated model achieved a robust area under the curve (AUC) score of 0.8 in all datasets, demonstrating the efficacy in predicting potential miRNA-disease relationships.

Conclusions: By introducing innovative label-preprocessing methods, this study addressed the relationships between miRNAs and diseases, and improved the ambiguity of the results in different experiments. Based on these refined label definitions, we developed a DL-based model to refine and predict the results of associations between miRNAs and diseases. This model offers a valuable tool for complementing traditional experimental methods and enhancing our understanding of miRNA-related disease mechanisms.

背景:miRNA(microRNA)是长度为 18-24 个核苷酸的内源性 RNA,在基因调控和疾病进展中发挥着关键作用。虽然传统的湿实验室实验为 miRNA 与疾病的关联提供了直接证据,但利用现有的生物信息学工具进行分析往往耗时且复杂。近年来,机器学习(ML)和深度学习(DL)技术成为分析大规模生物数据的强大工具。因此,建立一个模型来预测、识别和排列 miRNA 与疾病的联系,可以大大提高研究 miRNA 与疾病关系的精度和效率:在这项研究中,我们利用生物技术实验获得的 miRNA 与疾病的关联数据,建立了一个 miRNA 与疾病关联的 DL 模型。为了提高该模型的预测准确性,我们引入了两种标记策略,即基于权重和基于多数的定义,来对 miRNA 与疾病的关联进行分类。数据经过预处理后,使用结合了门控递归单元(GRU)和图卷积网络(GCN)的新型模型进行训练,以预测 miRNA 与疾病关联的水平。miRNA 与疾病的关联数据集来自 HMDD(人类 miRNA 疾病数据库),采用两种不同的标记方法进行分类:基于权重的定义和基于多数的定义。我们通过回归分析和多类分类将 miRNA 与疾病的关联分为三类:"上调"、"下调 "和 "非特异性"。该GRU-GCN协调模型在所有数据集上的曲线下面积(AUC)均达到0.8,证明了其在预测潜在的miRNA-疾病关系方面的有效性:本研究通过引入创新的标签预处理方法,解决了 miRNA 与疾病之间的关系问题,并改善了不同实验结果的模糊性。基于这些细化的标签定义,我们开发了一个基于 DL 的模型来细化和预测 miRNA 与疾病之间的关联结果。该模型为补充传统实验方法和加深我们对 miRNA 相关疾病机理的理解提供了宝贵的工具。
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引用次数: 0
Integrated metabolomic and transcriptomic analysis of anthocyanin metabolism in wheat pericarp. 小麦果皮花青素代谢的综合代谢组学和转录组学分析。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2025-01-13 DOI: 10.1186/s12863-024-01294-y
Jiao Wang, Lei Sun, Bo Jiao, Pu Zhao, Tianyun Xu, Sa Gu, Chenmin Huo, Jianzhou Pang, Shuo Zhou

Background: Wheat seeds display different colors due to the types and contents of anthocyanins, which is closely related to anthocyanin metabolism. In this study, a transcriptomic and metabolomic analysis between white and purple color wheat pericarp aimed to explore some key genes and metabolites involved in anthocyanin metabolism.

Results: Two wheat cultivars, a white seed cultivar Shiluan02-1 and purple seed cultivar Hengzi151 were used to identify the variations in differentially expressed genes (DEGs) and differentially accumulated flavonoids (DAFs). Based on metabolomic data, 314 metabolites and 191 DAFs were identified. Chalcone, flavonol, pro-anthocyanidin and anthocyanidin were the most differentially accumulated flavonoid compounds in Hengzi151. 2610 up-regulated and 2668 down-regulated DEGs were identified according to transcriptomic data. The results showed that some structural genes in anthocyanin synthesis pathway were prominently activated in Hengzi151, such as PAL, CAD, CHS and so on. Transcription factors (TFs) of MYB, bHLH, WD40 and some other TFs probably involved in regulating anthocyanin biosynthesis were identified. Some genes from hormone synthetic and signaling pathways that may participate in regulating anthocyanin biosynthesis also have been identified.

Conclusions: Our results provide valuable information on the candidate genes and metabolites involved in the anthocyanin metabolism in wheat pericarp.

背景:小麦种子呈现不同的颜色是由于花青素的种类和含量,这与花青素的代谢密切相关。本研究通过对白色和紫色小麦果皮的转录组学和代谢组学分析,旨在探索参与花青素代谢的关键基因和代谢物。结果:以白色小麦品种石花生02-1和紫色小麦品种恒子151为对照,鉴定了两种小麦品种差异表达基因(DEGs)和差异积累黄酮类化合物(DAFs)的差异。根据代谢组学数据,鉴定出314种代谢物和191种daf。查尔酮、黄酮醇、原花青素和花青素是横子151中积累差异最大的黄酮类化合物。根据转录组学数据,共鉴定出2610个上调的deg和2668个下调的deg。结果表明,恒子151花青素合成途径中PAL、CAD、CHS等结构基因被显著激活。鉴定出MYB、bHLH、WD40等可能参与花青素生物合成调控的转录因子。一些来自激素合成和信号通路的基因也可能参与调节花青素的生物合成。结论:本研究结果为小麦果皮花青素代谢的候选基因和代谢物提供了有价值的信息。
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引用次数: 0
ERBB3-related gene PBX1 is associated with prognosis in patients with HER2-positive breast cancer. erbb3相关基因PBX1与her2阳性乳腺癌患者的预后相关
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2025-01-10 DOI: 10.1186/s12863-024-01292-0
Shufen Mo, Haiming Zhong, Weiping Dai, Yuanyuan Li, Bin Qi, Taidong Li, Yongguang Cai

Background: HER2-positive breast cancer (BC) is a subtype of breast cancer. Increased ERBB3 expression has been implicated as a potential cause of resistance to other HER-targeted therapies. Our study aimed to screen and validate prognostic markers associated with ERBB3 expression by bioinformatics and affecting the prognosis of HER2 staging.

Methods: Analyzing differences in ERBB3-related groups. ERBB3 expression-related differentially expressed genes (DEGs) were identified and intersected with survival status-related DEGs to obtain intersected genes. Three algorithms, LASSO, RandomForest and XGBoost were combined to identify the signature genes. we construct risk models and generate ROC curves for prediction. Furthermore, we delve into the immunological traits, correlations, and expression patterns of signature genes by conducting a comprehensive analysis that encompasses immune infiltration analysis, correlation analysis, and differential expression analysis.

Results: Significant variability in ERBB3 expression and prognosis in high and low ERBB3 expression groups. Twenty-five candidate DEGs were identified by intersecting ERBB3-related DEGs with survival-related DEGs. Utilizing three distinct machine learning algorithms, we identified three signature genes-PBX1, IGHM, and CXCL13-that exhibited significant diagnostic value within the diagnostic model. In addition, the risk model had better prognostic and predictive effects, and the immune infiltration analysis showed that IGHM, CXCL13 might affect the proliferation of BC cells through immune cells. Functional studies demonstrated that interference with PBX1 inhibited the proliferation, migration, and epithelial-mesenchymal transition process of HER2-positive BC cells.

Conclusion: PBX1, IGHM and CXCL13 are associated with the expression level of the ERBB3 and are prognostic markers for HER2-positive in BC, which may play an important role in the development and progression of BC.

背景:her2阳性乳腺癌(BC)是乳腺癌的一个亚型。ERBB3表达增加被认为是对其他her靶向治疗产生耐药性的潜在原因。我们的研究旨在通过生物信息学筛选和验证与ERBB3表达相关的预后标志物,并影响HER2分期的预后。方法:分析erbb3相关组的差异。鉴定ERBB3表达相关的差异表达基因(deg),并与生存状态相关的deg相交,获得相交基因。结合LASSO、RandomForest和XGBoost三种算法来识别特征基因。我们构建风险模型并生成ROC曲线进行预测。此外,我们通过进行包括免疫浸润分析、相关分析和差异表达分析在内的综合分析,深入研究了特征基因的免疫学特性、相关性和表达模式。结果:ERBB3高、低表达组的ERBB3表达及预后有显著差异。通过将erbb3相关的deg与生存相关的deg相交,确定了25个候选deg。利用三种不同的机器学习算法,我们确定了三个特征基因——pbx1、IGHM和cxcl13,它们在诊断模型中表现出显著的诊断价值。此外,该风险模型具有较好的预后和预测作用,免疫浸润分析表明,IGHM、CXCL13可能通过免疫细胞影响BC细胞的增殖。功能研究表明,干扰PBX1可抑制her2阳性BC细胞的增殖、迁移和上皮-间质转化过程。结论:PBX1、IGHM、CXCL13与ERBB3表达水平相关,是判断her2阳性的预后标志物,可能在BC的发生发展中起重要作用。
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引用次数: 0
Population structure and genetic diversity of Toona sinensis revealed by whole-genome resequencing. 香椿全基因组重测序揭示的种群结构和遗传多样性。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2025-01-03 DOI: 10.1186/s12863-024-01288-w
Lei Wang, Chang Lu, Zhi-Gang Bao, Meng Li, Fusheng Wu, Yi-Zeng Lu, Bo-Qiang Tong, Mei Yu, Yong-Jun Zhao

Objectives: Toona sinensis, commonly known as Chinese toon, is a perennial woody plant with significant economic and ecological importance. This study employed whole-genome resequencing of 180 T. sinensis samples collected from Shandong to analyze genetic variation and diversity, ultimately identifying 18,231 high-quality SNPs after rigorous quality control and linkage disequilibrium pruning. This comprehensive genomic resource provides novel insights into the genetic architecture of T. sinensis, facilitating the elucidation of population structure and supporting future breeding programs.

Data description: We performed whole-genome resequencing on 180 Toona sinensis samples, generating 1170.26 Gbp of clean data with a Q30 percentage of 93.69%. The average alignment rate to the reference genome was 96.72%, with an average coverage depth of 8 × and a genome coverage of 88.71%. Following data quality control and alignment, we performed SNP calling and filtering to identify high-quality SNPs across all samples. Population structure analyses were then conducted using the identified SNPs, including principal component analysis (PCA), structure analysis, and phylogenetic tree construction. These comprehensive analyses provide a foundation for understanding the genetic diversity and evolutionary dynamics of T. sinensis.

目的:香椿(Toona sinensis)是一种多年生木本植物,具有重要的经济和生态价值。本研究对采自山东的180份中华柽柳样本进行全基因组重测序,分析遗传变异和多样性,经过严格的质量控制和连锁不平衡修剪,最终鉴定出18231个高质量snp。这一全面的基因组资源为中华赤杨的遗传结构提供了新的见解,有助于阐明种群结构并为未来的育种计划提供支持。数据描述:我们对180份香椿样本进行了全基因组重测序,得到1170.26 Gbp的干净数据,Q30率为93.69%。与参考基因组的平均比对率为96.72%,平均覆盖深度为8 ×,基因组覆盖率为88.71%。在数据质量控制和校准之后,我们执行SNP调用和过滤,以识别所有样本中的高质量SNP。然后利用鉴定的snp进行种群结构分析,包括主成分分析(PCA)、结构分析和系统发育树构建。这些综合分析为了解中华赤潮的遗传多样性和进化动态提供了基础。
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引用次数: 0
Whole-genome sequence of Pseudomonas sp. strain HOU2 isolated from dangshen (Codonopsis javanica) roots. 党参根中假单胞菌HOU2的全基因组序列分析。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2024-12-26 DOI: 10.1186/s12863-024-01291-1
Van Hong Thi Dao, Loan To Nguyen, Khanh Phuong Do, Vinh The Nguyen, Hieu Van Nguyen, Khanh Ngoc Pham, Truong Xuan Nguyen, Son Truong Dinh

Objectives: This study aims to generate a de novo complete whole-genome assembly of Pseudomonas sp. strain HOU2, which is an endophytic bacterium isolated from dangshen roots that shows to improve the growth of in vitro dangshen plants. Further investigation of the whole genome of Pseudomonas sp. strain HOU2 will help identify potential genes or pathways that could be involved in the plant growth-promoting effects on in vitro dangshen plants, providing valuable information for future applications.

Data description: The genomic DNA of Pseudomonas sp. strain HOU2 was sequenced using Oxford Nanopore's PromethION sequencer with an R10.4.1 flow cell (Table 1, Data file 1). The assembly of the Pseudomonas sp. strain HOU2 genome was conducted using Flye version 2.9, resulting in a single circular chromosome of 6,047,544 bp with a mean coverage of 488 (Table 1, Data file 2). The annotation of genes, proteins, and features of the HOU2 genome were performed by the RAST server (Rapid Annotation using Subsystem Technology) ( https://rast.nmpdr.org/ ) (Table 1, Data file 3, 4, 5) [6, 7]. The Pseudomonas sp. strain HOU2 genome was determined to be most similar to that of Pseudomonas koreensis using the Type Strain Genome Server ( https://tygs.dsmz.de/ , version v391) [8].

目的:从党参根中分离的内生细菌Pseudomonas sp.菌株HOU2,对党参植株的体外生长有促进作用。对假单胞菌HOU2菌株全基因组的进一步研究,将有助于发现可能参与植物促生作用的基因或途径,为今后的应用提供有价值的信息。数据描述:假单胞菌菌株HOU2的基因组DNA使用Oxford Nanopore的PromethION测序仪和R10.4.1流式细胞进行测序(表1,数据文件1)。假单胞菌菌株HOU2基因组的组装使用Flye version 2.9进行,得到一条长6047444 bp的单圆形染色体,平均覆盖面积为488(表1,数据文件2)。通过RAST服务器(Rapid Annotation using Subsystem Technology) (https://rast.nmpdr.org/)进行HOU2基因组的特征分析(表1,数据文件3,4,5)[6,7]。利用Type strain genome Server (https://tygs.dsmz.de/, version v391)[8]确定假单胞菌菌株HOU2基因组与韩国假单胞菌基因组最相似。
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引用次数: 0
Genome-wide phylogenetic analysis and expansion of gene families involved in detoxification in Smittia aterrima (Meigen)and Smittia pratorum (Goetghebuer) (Diptera, Chironomidae). 双翅目,手蛾科,无翅密虱(Meigen)和喙密虱(Goetghebuer)解毒相关基因家族的全基因组系统发育分析和扩增。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2024-12-18 DOI: 10.1186/s12863-024-01289-9
Bin Mao, Yue Zheng, Yunli Xiao, Kaixia Yang, Jingru Shangguan, Mi Shen, Hao Sun, Xiangliang Fang, Yue Fu

Smittia aterrima (Meigen, 1818) and Smittia pratorum (Goetghebuer, 1927) are important indicator insects for aquatic environments, showing extensive tolerance to the environment. However, the genome-wide phylogenetic relationships and characteristics of the detoxification mechanisms in S. aterrima and S. pratorum remain unclear. Based on the genomes of the two species obtained in our preliminary studies and nine genomes from the NCBI database, we found that chironomids diverged from other mosquitoes approximately 200 million years ago (MYA), and S. aterrima and S. pratorum diverged about 30 MYA according to phylogenetic analysis. Gene family evolution analysis showed significant expansion of 43 and 15 gene families in S. aterrima and S. pratorum, respectively, particularly those related to detoxification pathways. Positive selection analysis reveals that genes under positive selection are crucial for promoting environmental adaptation. Additionally, the detoxification-associated gene families including Cytochrome P450 (CYP), Glutathione S-transferases (GST), ATP-binding cassette (ABC), carboxylesterase (CCE), and UDP-glucuronosyltransferase (UGT) were annotated. Our analysis results show that these five detoxification gene families have significantly expanded in the chironomid genomes. This study highlights the genome evolution of chironomids and their responses to mechanisms of tolerance to environmental challenges.

Smittia aterrima (Meigen, 1818)和Smittia pratorum (Goetghebuer, 1927)是水生环境的重要指示昆虫,对环境具有广泛的耐受性。然而,水蛭和葡萄球菌解毒机制的全基因组系统发育关系和特征尚不清楚。基于前期研究获得的两种蚊子的基因组和NCBI数据库中的9个基因组,我们发现chironomids与其他蚊子大约在2亿年前(MYA)分化,S. aterrima和S. pratorum根据系统发育分析大约在30 MYA分化。基因家族进化分析显示,水蛭和草菇分别有43个和15个基因家族显著扩增,尤其是与解毒途径相关的基因家族。正选择分析表明,正选择基因对促进环境适应起着至关重要的作用。此外,解毒相关基因家族包括细胞色素P450 (CYP),谷胱甘肽s转移酶(GST), atp结合盒(ABC),羧酸酯酶(CCE)和udp -葡萄糖醛基转移酶(UGT)进行了注释。我们的分析结果表明,这五个解毒基因家族在手拟鱼基因组中显著扩增。本研究重点介绍了手拟鱼的基因组进化及其对环境挑战耐受机制的响应。
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引用次数: 0
Genome-wide identification, characterization and expression profiles of FORMIN gene family in cotton (Gossypium Raimondii L.). 棉花FORMIN基因家族的全基因组鉴定、表征及表达谱分析。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2024-12-18 DOI: 10.1186/s12863-024-01285-z
Pollob Shing, Md Shohel Ul Islam, Mst Sumaiya Khatun, Fatema Tuz Zohra, Naimul Hasan, Shaikh Mizanur Rahman, Md Abdur Rauf Sarkar

Background: Gossypium raimondii serves as a widely used genomic model cotton species. Its genetic influence to enhance fiber quality and ability to adapt to challenging environments both contribute to increasing cotton production. The formins are a large protein family that predominately consists of FH1 and FH2 domains. The presence of the formin domains highly regulates the actin and microtubule filament in the cytoskeleton dynamics confronting various abiotic stresses such as drought, salinity, and cold temperatures.

Results: In this study, 26 formin genes were analyzed and characterized in G. raimondii and mostly were found in the nucleus and chloroplast. According to the evolutionary phylogenetic relationship, GrFH were dispersed and classified into seven different groups and shared an ancestry relationship with MtFH. The GrFH gene structure prediction revealed diverse intron-exon arrangements between groups. The FH2 conserved domain was found in all the GrFH distributed on 12 different chromosomes. Moreover, 11 pairs of GrFH transpired segmental duplication. Among them, GrFH4-GrFH7 evolved 35 million years ago (MYA) according to the evolutionary divergence time. Besides, 57 cis-acting regulatory elements (CAREs) motifs were found to play a potential role in plant growth, development, and in response to various abiotic stresses, including cold stress. The GrFH genes mostly exhibited biological processes resulting in the regulation of actin polymerization. The ERF, GATA, MYB, and LBD, major transcription factors (TFs) families in GrFH, regulated expression in abiotic stress specifically salt as well as defense against certain pathogens. The microRNA of GrFH unveiled the regulatory mechanism to regulate their gene expression in abiotic stresses such as salt and cold. One of the most economic aspects of cotton (G.raimondii) is the production of lint due to its use in manufacturing fabrics and other industrial applications. The expression profiles of GrFH in different tissues particularly during the conversion from ovule to fiber (lint), and the increased levels (up-regulation) of GrFH4, GrFH6, GrFH12, GrFH14, and GrFH26 under cold conditions, along with GrFH19 and GrFH26 in response to salt stress, indicated their potential involvement in combating these environmental challenges. Moreover, these stress-tolerant GrFH linked to cytoskeleton dynamics are essential in producing high-quality lint.

Conclusions: The findings from this study can contribute to elucidating the evolutionary and functional characterizations of formin genes and deciphering their potential role in abiotic stress such as cold and salt as well as in the future implications in wet lab.

背景:Gossypium raimondii是一种被广泛应用的基因组模式棉。其提高纤维质量的遗传影响和适应挑战性环境的能力都有助于提高棉花产量。形成蛋白是一个大的蛋白质家族,主要由FH1和FH2结构域组成。formin结构域的存在高度调节肌动蛋白和微管丝在细胞骨架动力学中面对各种非生物胁迫,如干旱、盐度和低温。结果:本研究分析鉴定了26个双胍基因,主要分布在雷蒙地鼠的细胞核和叶绿体中。根据进化系统发生关系,GrFH分布分散,可分为7个不同的类群,与MtFH具有共同的祖先关系。GrFH基因结构预测显示各组之间的内含子-外显子排列存在差异。分布在12条不同染色体上的GrFH均存在FH2保守结构域。此外,有11对GrFH发生了片段重复。其中GrFH4-GrFH7进化时间为3500万年前(MYA)。此外,还发现了57个顺式调控元件(cis-acting regulatory elements, CAREs)基序在植物的生长发育和对各种非生物胁迫(包括冷胁迫)的响应中发挥潜在作用。GrFH基因主要表现为调控肌动蛋白聚合的生物学过程。GrFH中的主要转录因子(TFs)家族ERF、GATA、MYB和LBD调节非生物胁迫(特别是盐)的表达以及对某些病原体的防御。GrFH的microRNA揭示了在盐、冷等非生物胁迫下调控其基因表达的调控机制。棉花(G.raimondii)最经济的方面之一是生产绒毛,因为它用于制造织物和其他工业应用。GrFH在不同组织中的表达谱,特别是在胚珠到纤维的转化过程中,GrFH4、GrFH6、GrFH12、GrFH14和GrFH26在寒冷条件下的表达水平升高(上调),以及GrFH19和GrFH26在盐胁迫下的表达,表明它们可能参与应对这些环境挑战。此外,这些与细胞骨架动力学相关的耐应力GrFH对于生产高质量的绒毛是必不可少的。结论:本研究的发现有助于阐明formin基因的进化和功能特征,并破译其在寒冷和盐等非生物胁迫中的潜在作用,以及未来在湿实验室中的应用。
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引用次数: 0
Pre-pandemic artificial MERS analog of polyfunctional SARS-CoV-2 S1/S2 furin cleavage site domain is unique among spike proteins of genus Betacoronavirus. 大流行前的人工 MERS 类似物多功能 SARS-CoV-2 S1/S2 furin 裂解位点结构域在 Betacoronavirus 属的尖峰蛋白中是独一无二的。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2024-12-17 DOI: 10.1186/s12863-024-01290-2
Andreas Martin Lisewski

Objectives: SARS-CoV-2 spike (S) glycoprotein furin cleavage site is a key determinant of SARS-CoV-2 virulence and COVID-19 pathogencity. Located at the S1/S2 junction, it is unique among sarbecoviruses but frequently found among betacoronaviruses. Recent evidence suggests that this site includes two additional functional motifs: a pat7 nuclear localization signal and two flanking O-glycosites. However, a systematic genus and subgenus analysis of spike protein sequences bearing this polyfunctional sequence domain has been missing.

Data description: Here we report comprehensive sequence data to demonstrate that among spike proteins of genus Betacoronavirus and outside of the SARS-CoV-2 clade a fully analogous S1/S2 domain was found in only one other virus: the artificial MERS infectious clone MERS-MA30, described already in 2017, which was rationally selected from serial passage in genetically humanized mice. As the evolutionarily closest betacoronaviruses outside of the SARS-CoV-2 clade lack all its three functional motifs, these data extend-beyond natural evolution and zoonosis-the current view on SARS-CoV-2 pre-pandemic origins by presenting the analogous S1/S2 MERS-MA30 sequence domain as a precise molecular blueprint for SARS-CoV-2.

目的:SARS-CoV-2刺突(S)糖蛋白糠蛋白切割位点是SARS-CoV-2毒力和COVID-19致病性的关键决定因素。它位于S1/S2交界处,在sarbecoviruses中是独特的,但在betacor冠状病毒中经常发现。最近的证据表明,该位点包括两个额外的功能基序:一个pat7核定位信号和两个侧翼的o -糖苷基。然而,对带有该多功能序列结构域的刺突蛋白序列的系统属和亚属分析一直缺失。数据描述:本文报告了全面的序列数据,以证明在Betacoronavirus属刺突蛋白和SARS-CoV-2分支外,仅在另一种病毒中发现了完全类似的S1/S2结构域:人工MERS传染性克隆MERS- ma30,该克隆已于2017年描述,是在遗传人源化小鼠的序列传代中合理选择的。由于在SARS-CoV-2进化分支之外进化上最接近的乙型冠状病毒缺乏其所有三个功能基元,这些数据通过将类似的S1/S2 MERS-MA30序列结构域作为SARS-CoV-2的精确分子蓝图,扩展了-超越了自然进化和人畜共患病-目前关于SARS-CoV-2大流行前起源的观点。
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引用次数: 0
Pharmacogenomic insights into tuberculosis treatment shows the NAT2 genetic variants linked to hepatotoxicity risk: a systematic review and meta-analysis. 结核病治疗的药物基因组学研究表明,NAT2基因变异与肝毒性风险相关:一项系统综述和荟萃分析。
IF 1.9 Q3 GENETICS & HEREDITY Pub Date : 2024-12-05 DOI: 10.1186/s12863-024-01286-y
Rashmi Mahajan, Anuj Kumar Tyagi

Background: Tuberculosis (TB) patients undergoing anti-tuberculosis treatment often face serious adverse drug reactions, such as hepatotoxicity. Genetic variants of the N-acetyltransferase 2 (NAT2) gene have been linked to an increased risk of these toxic events.

Objective: This study aims to provide a comprehensive evaluation of the evidence linking NAT2 genetic variants to anti-tuberculosis drug-related hepatotoxicity (ATDH).

Method: A comprehensive review and meta-analysis was performed by accessing databases such as PubMed, Scopus, and Web of Science. A total of 24 articles were incorporated into the dataset. Meta-analyses were conducted to gather estimates of the association between the slow acetlylators (SA) genotype and ATDH. The studies were stratified by ethnicity, regimen, genotyping methods, criteria for liver toxicity, and dosage. Also, meta-analysis for the specific SA type that was most likely responsible for the ATDH was also conducted.

Results: The included studies showed individuals with a slow NAT2 acetylator had a significantly greater risk of experiencing hepatotoxicity ATDH (odds ratio [OR] 2.52 (95% CI: 1.95-3.27; p value < 0.001) compared to individuals with other types of acetylator (i.e., rapid and immediate). Among individuals with slow acetylator NAT2*5/7, NAT2*5/6, and NAT2*6/6 genotypes, there is a greater likelihood of association compared to other variations.

Conclusion: Our meta-analysis confirms a significant association between slow NAT2 acetylator and increased hepatotoxicity risk. The findings from the present underscore the potential of pharmacogenomic testing to improve TB treatment outcomes. By identifying patients with the slow acetylator NAT2 genotype, healthcare providers can predict an increased risk of anti-tuberculosis drug-induced hepatotoxicity. This allows for personalized treatment strategies, such as adjusting drug dosages or selecting alternative therapies, to minimize adverse effects and optimize efficacy.

背景:接受抗结核治疗的结核病患者往往面临严重的药物不良反应,如肝毒性。n -乙酰转移酶2 (NAT2)基因的遗传变异与这些毒性事件的风险增加有关。目的:本研究旨在对NAT2基因变异与抗结核药物相关肝毒性(ATDH)相关的证据进行综合评价。方法:通过访问PubMed、Scopus、Web of Science等数据库进行综合综述和meta分析。总共有24篇文章被纳入数据集。进行了荟萃分析,以收集慢乙酰化(SA)基因型与ATDH之间关系的估计。这些研究按种族、治疗方案、基因分型方法、肝毒性标准和剂量进行分层。此外,还对最可能导致ATDH的特定SA类型进行了荟萃分析。结果:纳入的研究显示,NAT2乙酰化缓慢的个体发生肝毒性ATDH的风险显著更高(优势比[OR] 2.52 (95% CI: 1.95-3.27;结论:我们的荟萃分析证实了缓慢的NAT2乙酰化与肝毒性风险增加之间的显著关联。目前的研究结果强调了药物基因组学检测改善结核病治疗结果的潜力。通过识别慢乙酰化NAT2基因型患者,医疗保健提供者可以预测抗结核药物引起肝毒性的风险增加。这允许个性化的治疗策略,如调整药物剂量或选择替代疗法,以尽量减少不良反应和优化疗效。
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BMC genomic data
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