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Comparative chloroplast-specific SNP and nSCoT markers analysis and population structure study in kiwifruit plants. 猕猴桃植物叶绿体特异性 SNP 和 nSCoT 标记比较分析及种群结构研究。
IF 2.7 3区 生物学 Pub Date : 2024-05-17 DOI: 10.1186/s41065-024-00321-3
Yinling Ding, Yu Wang, Zhe Chen, Jiamin Dou, Yihao Zhang, Yu Zhang

Background: Kiwifruit (Actinidiaceae family) is an economically important fruit tree in China and New Zealand. It is a typical dioecious plant that has undergone frequent natural hybridization, along with chromosomal ploidy diversity within the genus Actinidia, resulting in higher genetic differences and horticultural diversity between interspecific and intraspecific traits. This diversity provides a rich genetic base for breeding. China is not only the original center of speciation for the Actinidia genus but also its distribution center, housing the most domesticated species: A. chinensis var. chinensis, A. chinensis var. deliciosa, A. arguta, and A. polygama. However, there have been relatively few studies on the application of DNA markers and the genetic basis of kiwifruit plants. By combining information from chloroplast-specific SNPs and nuclear SCoT (nSCoT) markers, we can uncover complementary aspects of genetic variation, population structure, and evolutionary relationships. In this study, one chloroplast DNA (cpDNA) marker pair was selected out of nine cpDNA candidate pairs. Twenty nSCoT markers were selected and used to assess the population structure and chloroplast-specific DNA haplotype diversity in 55 kiwifruit plants (Actinidia), including 20 samples of A. chinensis var. chinensis, 22 samples of A. chinensis var. deliciosa, 11 samples of A. arguta, and two samples of A. polygama, based on morphological observations collected from China.

Results: The average genetic distance among the 55 samples was 0.26 with chloroplast-specific SNP markers and 0.57 with nSCoT markers. The Mantel test revealed a very small correlation (r = 0.21). The 55 samples were categorized into different sub-populations using Bayesian analysis, the Unweighted Pair Group Method with the Arithmetic Mean (UPGMA), and the Principal Component Analysis (PCA) method, respectively. Based on the analysis of 205 variable sites, a total of 15 chloroplast-specific DNA haplotypes were observed, contributing to a higher level of polymorphism with an Hd of 0.78. Most of the chloroplast-specific DNA haplotype diversity was distributed among populations, but significant diversity was also observed within populations. H1 was shared by 24 samples, including 12 of A. chinensis var. chinensis and 12 of A. chinensis var. deliciosa, indicating that H1 is an ancient and dominant haplotype among the 55 chloroplast-specific sequences. H2 may not have evolved further.The remaining haplotypes were rare and unique, with some appearing to be exclusive to a particular variety and often detected in single individuals. For example, the H15 haplotype was found exclusively in A. polygama.

Conclusion: The population genetic variation explained by chloroplast-specific SNP markers has greater power than that explained by nSCoTs, with chloroplast-specific DNA haplotypes being the most efficient. Gene flow appears to be more evident

背景:猕猴桃(猕猴桃科)是中国和新西兰的重要经济果树。它是一种典型的雌雄异株植物,经历了频繁的自然杂交,加上猕猴桃属内染色体倍性的多样性,导致种间和种内性状之间具有较高的遗传差异和园艺多样性。这种多样性为育种提供了丰富的遗传基础。中国不仅是放线菌属最初的物种分化中心,也是其分布中心,拥有最多的驯化物种:A. chinensis var.然而,有关 DNA 标记的应用和猕猴桃植物遗传基础的研究相对较少。通过结合叶绿体特异性 SNP 和核 SCoT(nSCoT)标记的信息,我们可以发现遗传变异、种群结构和进化关系的互补性。在这项研究中,我们从 9 对候选 cpDNA 中选出了 1 对叶绿体 DNA(cpDNA)标记。根据从中国采集的形态观察结果,选择了 20 个 nSCoT 标记,用于评估 55 株猕猴桃(Actinidia)的种群结构和叶绿体特异 DNA 单倍型多样性,其中包括 20 株 A. chinensis var:结果:55 个样本的叶绿体特异性 SNP 标记的平均遗传距离为 0.26,nSCoT 标记的平均遗传距离为 0.57。曼特尔检验显示相关性很小(r = 0.21)。利用贝叶斯分析法、算术平均非加权成对分组法(UPGMA)和主成分分析法(PCA)将 55 个样本分别划分为不同的亚群。根据对 205 个可变位点的分析,共观察到 15 种叶绿体特异性 DNA 单倍型,其多态性水平较高,Hd 为 0.78。叶绿体特异 DNA 单倍型多样性大多分布在不同种群之间,但在种群内部也观察到显著的多样性。有 24 个样本共享 H1,其中包括 12 个 A. chinensis 变种和 12 个 A. chinensis deliciosa 变种,这表明 H1 是 55 个叶绿体特异性序列中古老且占优势的单倍型。其余的单倍型稀少而独特,有些似乎是某一特定品种独有的,通常在单个个体中检测到。例如,H15 单倍型仅见于 A. polygama:结论:叶绿体特异性 SNP 标记对群体遗传变异的解释能力大于 nSCoTs,其中叶绿体特异性 DNA 单倍型最为有效。相比之下,A.arguta 和 A. polygama 具有各自的特征单倍型,这些单倍型来自于 A. chinensis var.与 A. chinensis 相比,A.arguta 和 A. polygama 的分组情况更好。针对每种分子标记,尤其是单倍型,筛选出放线菌属的核心标记似乎也至关重要。
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引用次数: 0
Exploring the mechanism of dendrobine in treating metabolic associated fatty liver disease based on network pharmacology and experimental validation. 基于网络药理学和实验验证,探索石斛碱治疗代谢相关性脂肪肝的机制。
IF 2.7 3区 生物学 Pub Date : 2024-05-16 DOI: 10.1186/s41065-024-00322-2
Feng Li, Jialin Wu, Ye Zhu, Xiaoyan Zhang, Miao Wang, Shigao Zhou

Background: This study investigates the therapeutic mechanisms of dendrobine, a primary bioactive compound in Dendrobium nobile, for Metabolic Associated Fatty Liver Disease (MASLD) management. Utilizing network pharmacology combined with experimental validation, the clinical effectiveness of dendrobine in MASLD treatment was assessed and analyzed.

Results: The study demonstrates significant improvement in liver function among MASLD patients treated with Dendrobium nobile. Network pharmacology identified key targets such as Peroxisome Proliferator-Activated Receptor Gamma (PPARG), Interleukin 6 (IL6), Tumor Necrosis Factor (TNF), Interleukin 1 Beta (IL1B), and AKT Serine/Threonine Kinase 1 (AKT1), with molecular docking confirming their interactions. Additionally, dendrobine significantly reduced ALT and AST levels in palmitic acid-treated HepG2 cells, indicating hepatoprotective properties and amelioration of oxidative stress through decreased Malondialdehyde (MDA) levels and increased Superoxide Dismutase (SOD) levels.

Conclusion: Dendrobine mitigates liver damage in MASLD through modulating inflammatory and immune responses and affecting lipid metabolism, potentially by downregulating inflammatory mediators like TNF, IL6, IL1B, and inhibiting AKT1 and Signal Transducer and Activator of Transcription 3 (STAT3). This study provides a theoretical basis for the application of dendrobine in MASLD treatment, highlighting its potential as a therapeutic agent.

背景:本研究探讨了金钗石斛中的主要生物活性化合物石斛碱治疗代谢相关性脂肪肝(MASLD)的机制。利用网络药理学结合实验验证,对石斛碱治疗代谢相关性脂肪肝的临床疗效进行了评估和分析:研究结果表明,使用金钗石斛治疗 MASLD 患者的肝功能有明显改善。网络药理学确定了一些关键靶点,如过氧化物酶体增殖激活受体γ(PPARG)、白细胞介素6(IL6)、肿瘤坏死因子(TNF)、白细胞介素1β(IL1B)和AKT丝氨酸/苏氨酸激酶1(AKT1),分子对接证实了它们之间的相互作用。此外,石斛碱还能显著降低棕榈酸处理的 HepG2 细胞中的谷丙转氨酶和谷草转氨酶水平,表明其具有保肝特性,并能通过降低丙二醛(MDA)水平和提高超氧化物歧化酶(SOD)水平来改善氧化应激:结论:铁皮石斛碱通过调节炎症和免疫反应以及影响脂质代谢,可能通过下调 TNF、IL6、IL1B 等炎症介质以及抑制 AKT1 和信号转导和激活转录 3 (STAT3),减轻 MASLD 的肝损伤。这项研究为石斛碱应用于 MASLD 治疗提供了理论依据,凸显了其作为一种治疗药物的潜力。
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引用次数: 0
Editorial: Celebration of DNA Day. 社论:庆祝 DNA 日。
IF 2.7 3区 生物学 Pub Date : 2024-05-06 DOI: 10.1186/s41065-024-00319-x
Ramin Massoumi, Yongyong Shi
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引用次数: 0
Acetylation proteomics and metabolomics analyses reveal the involvement of starch synthase undergoing acetylation modification during UV-B stress resistance in Rhododendron Chrysanthum Pall 乙酰化蛋白质组学和代谢组学分析揭示了淀粉合成酶乙酰化修饰参与杜鹃花抗紫外线-B胁迫的过程
IF 2.7 3区 生物学 Pub Date : 2024-05-03 DOI: 10.1186/s41065-024-00320-4
Meiqi Liu, Li Sun, Yuhang Cao, Hongwei Xu, Xiaofu Zhou
Rhododendron chrysanthum Pall. (R. chrysanthum) is a plant that lives in high mountain with strong UV-B radiation, so R. chrysanthum possess resistance to UV-B radiation. The process of stress resistance in plants is closely related to metabolism. Lysine acetylation is an important post-translational modification, and this modification process is involved in a variety of biological processes, and affected the expression of enzymes in metabolic processes. However, little is known about acetylation proteomics during UV-B stress resistance in R. chrysanthum. In this study, R. chrysanthum OJIP curves indicated that UV-B stress damaged the receptor side of the PSII reaction center, with a decrease in photosynthesis, a decrease in sucrose content and an increase in starch content. A total of 807 differentially expressed proteins, 685 differentially acetylated proteins and 945 acetylation sites were identified by quantitative proteomic and acetylation modification histological analysis. According to COG and subcellular location analyses, DEPs with post-translational modification of proteins and carbohydrate metabolism had important roles in resistance to UV-B stress and DEPs were concentrated in chloroplasts. KEGG analyses showed that DEPs were enriched in starch and sucrose metabolic pathways. Analysis of acetylation modification histology showed that the enzymes in the starch and sucrose metabolic pathways underwent acetylation modification and the modification levels were up-regulated. Further analysis showed that only GBSS and SSGBSS changed to DEPs after undergoing acetylation modification. Metabolomics analyses showed that the metabolite content of starch and sucrose metabolism in R. chrysanthum under UV-B stress. Decreased photosynthesis in R. chrysanthum under UV-B stress, which in turn affects starch and sucrose metabolism. In starch synthesis, GBSS undergoes acetylation modification and the level is upregulated, promotes starch synthesis, making R. chrysanthum resistant to UV-B stress.
杜鹃花(Rhododendron chrysanthum Pall.(R.chrysanthum)是一种生活在紫外线-B 辐射较强的高山上的植物,因此,R.chrysanthum 具有抗紫外线-B 辐射的能力。植物的抗逆过程与新陈代谢密切相关。赖氨酸乙酰化是一种重要的翻译后修饰,这种修饰过程参与多种生物过程,并影响代谢过程中酶的表达。然而,人们对 R. chrysanthum 抗 UV-B 胁迫过程中的乙酰化蛋白质组学知之甚少。本研究中,R. chrysanthum 的 OJIP 曲线表明,紫外线-B 胁迫破坏了 PSII 反应中心的受体侧,光合作用下降,蔗糖含量减少,淀粉含量增加。通过定量蛋白质组学和乙酰化修饰组学分析,共鉴定出807个差异表达蛋白、685个差异乙酰化蛋白和945个乙酰化位点。根据 COG 和亚细胞位置分析,具有蛋白质翻译后修饰和碳水化合物代谢的 DEPs 在抗 UV-B 胁迫中具有重要作用,并且 DEPs 主要集中在叶绿体中。KEGG分析表明,DEPs富集在淀粉和蔗糖代谢途径中。乙酰化修饰组学分析表明,淀粉和蔗糖代谢途径中的酶发生了乙酰化修饰,且修饰水平上调。进一步的分析表明,只有 GBSS 和 SSGBSS 在经过乙酰化修饰后变为 DEPs。代谢组学分析表明,在 UV-B 胁迫下,R. Chrysanthum 的淀粉和蔗糖代谢的代谢物含量降低。在 UV-B 胁迫下,R. Chrysanthum 的光合作用降低,进而影响淀粉和蔗糖的代谢。在淀粉合成过程中,GBSS发生乙酰化修饰,其水平上调,促进了淀粉的合成,从而使菊抗UV-B胁迫。
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引用次数: 0
Zebrafish nampt-a mutants are viable despite perturbed primitive hematopoiesis 斑马鱼 nampt-a 突变体尽管原始造血功能受到干扰,但仍能存活
IF 2.7 3区 生物学 Pub Date : 2024-04-29 DOI: 10.1186/s41065-024-00318-y
Autumn Penecilla Pomreinke, Patrick Müller
Nicotinamide phosphoribosyltransferase (Nampt) is required for recycling NAD+ in numerous cellular contexts. Morpholino-based knockdown of zebrafish nampt-a has been shown to cause abnormal development and defective hematopoiesis concomitant with decreased NAD+ levels. However, surprisingly, nampt-a mutant zebrafish were recently found to be viable, suggesting a discrepancy between the phenotypes in knockdown and knockout conditions. Here, we address this discrepancy by directly comparing loss-of-function approaches that result in identical defective transcripts in morphants and mutants. Using CRISPR/Cas9-mediated mutagenesis, we generated nampt-a mutant lines that carry the same mis-spliced mRNA as nampt-a morphants. Despite reduced NAD+ levels and perturbed expression of specific blood markers, nampt-a mutants did not display obvious developmental defects and were found to be viable. In contrast, injection of nampt-a morpholinos into wild-type or mutant nampt-a embryos caused aberrant phenotypes. Moreover, nampt-a morpholinos caused additional reduction of blood-related markers in nampt-a mutants, suggesting that the defects observed in nampt-a morphants can be partially attributed to off-target effects of the morpholinos. Our findings show that zebrafish nampt-a mutants are viable despite reduced NAD+ levels and a perturbed hematopoietic gene expression program, indicating strong robustness of primitive hematopoiesis during early embryogenesis.
烟酰胺磷酸核糖转移酶(Nampt)在许多细胞环境中都需要循环利用 NAD+。研究表明,基于phospholino基因敲除斑马鱼nampt-a会导致发育异常和造血缺陷,同时降低NAD+水平。然而,令人惊讶的是,最近发现nampt-a突变斑马鱼仍能存活,这表明基因敲除和基因敲除条件下的表型存在差异。在这里,我们通过直接比较功能缺失的方法来解决这一差异,这种方法会在变形体和突变体中产生相同的缺陷转录本。利用 CRISPR/Cas9 介导的诱变,我们产生了携带与 nampt-a 形态体相同的错误拼接 mRNA 的 nampt-a 突变株。尽管NAD+水平降低,特定血液标志物的表达受到干扰,但nampt-a突变体并没有表现出明显的发育缺陷,而且可以存活。相反,向野生型或nampt-a突变体胚胎注射nampt-a吗啉多糖会导致异常表型。此外,nampt-a吗啉还导致nampt-a突变体血液相关标记物的减少,这表明在nampt-a突变体中观察到的缺陷可部分归因于吗啉的脱靶效应。我们的研究结果表明,斑马鱼nampt-a突变体在NAD+水平降低和造血基因表达程序紊乱的情况下仍能存活,这表明原始造血在早期胚胎发生过程中具有很强的稳健性。
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Correction: Exploration of the underlying comorbidity mechanism in psoriasis and periodontitis: a bioinformatics analysis 更正:探索银屑病和牙周炎的潜在并发症机制:生物信息学分析
IF 2.7 3区 生物学 Pub Date : 2024-04-04 DOI: 10.1186/s41065-024-00315-1
Hao Lei, Xin Chen, Ziyang Wang, Zixuan Xing, Wenqian Du, Ruimin Bai, Ke He, Wen Zhang, Yan Wang, Yan Zheng

Correction: Hereditas 160, 7 (2023).

https://doi.org/10.1186/s41065-023-00266-z

Following publication of the original article [1], the authors reported an error in selection of periodontitis datasets. The two datasets used for differential gene analysis of periodontitis had overlapping samples. To be strict, they cannot be used as mutual verification. So, the authors clarified the limitations of the overlapping datasets in discussion part. It was added as limitation five: (V) When selecting the dataset of periodontitis, we only focused on the size of the samples, while ignoring the overlap of the samples. Strictly speaking, they cannot be used as mutual verification, and more datasets should be selected for verification in subsequent studies. The original article [1] has been updated.

  1. Lei H, Chen X, Wang Z, et al. Exploration of the underlying comorbidity mechanism in psoriasis and periodontitis: a bioinformatics analysis. Hereditas. 2023;160:7. https://doi.org/10.1186/s41065-023-00266-z.

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  1. Hao Lei and Xin Chen contributed equally to this article and are co-first.

Authors and Affiliations

  1. Department of Dermatology, the First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, 710061, China

    Hao Lei, Zixuan Xing, Wenqian Du, Ruimin Bai, Ke He, Wen Zhang, Yan Wang & Yan Zheng

  2. State Key Laboratory of Military Stomatology & National Clinical Research Center for Oral Diseases & Shaanxi Clinical Research Center for Oral Diseases, Department of Orthodontics, School of Stomatology, The Fourth Military Medical University, Xi’an, 710032, China

    Xin Chen

  3. Department of Medicine, Xi’an Jiaotong University, Xi’an, 710061, China

    Ziyang Wang

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更正:Hereditas 160, 7 (2023).https://doi.org/10.1186/s41065-023-00266-zFollowing 原文[1]发表时,作者报告了牙周炎数据集选择上的错误。用于牙周炎差异基因分析的两个数据集有重叠样本。严格来说,它们不能用作相互验证。因此,作者在讨论部分澄清了重叠数据集的局限性。并将其补充为限制五:(五)在选择牙周炎数据集时,我们只关注了样本的大小,而忽略了样本的重叠。严格来说,不能作为相互验证的依据,后续研究应选择更多的数据集进行验证。Lei H, Chen X, Wang Z, et al. Exploration of the underlying comorbidity mechanism in psoriasis and periodontitis: a bioinformatics analysis.遗传学。2023;160:7. https://doi.org/10.1186/s41065-023-00266-z.Article CAS PubMed PubMed Central Google Scholar Download references作者注释雷浩和陈新对本文有同等贡献,为共同第一作者。作者及单位西安交通大学第一附属医院皮肤科,西安,710061郝磊,邢子璇,杜文倩,白瑞敏,何珂,张文,王艳& Yan Zheng军事口腔医学国家重点实验室& 国家口腔疾病临床研究中心&;陕西省口腔疾病临床研究中心,第四军医大学口腔医学院正畸科,西安,710032 陈新西安交通大学医学系,西安,710061、ChinaZiyang Wang作者简介Hao Lei查看作者发表的论文您也可以在PubMed Google Scholar中搜索该作者Xin Chen查看作者发表的论文您也可以在PubMed Google Scholar中搜索该作者Ziyang Wang查看作者发表的论文您也可以在PubMed Google Scholar中搜索该作者Zixuan Xing查看作者发表的论文您也可以在PubMed Google Scholar中搜索该作者杜文倩查看作者发表的论文您也可以在PubMed Google Scholar中搜索该作者RuiminBai查看作者发表的论文您也可以在 PubMed Google Scholar中搜索该作者Ke He查看作者发表的论文您也可以在 PubMed Google Scholar中搜索该作者Wen Zhang查看作者发表的论文您也可以在 PubMed Google Scholar中搜索该作者Yan Wang查看作者发表的论文您也可以在 PubMed Google Scholar中搜索该作者Yan Zheng查看作者发表的论文您也可以在 PubMed Google Scholar中搜索该作者通信作者Yan Zheng.出版者注Springer Nature对出版地图中的管辖权主张和机构隶属关系保持中立。原文的在线版本可在以下网址找到:https://doi.org/10.1186/s41065-023-00266-z.Open Access 本文采用知识共享署名 4.0 国际许可协议进行许可,该协议允许以任何媒介或格式使用、共享、改编、分发和复制,只要您适当注明原作者和来源,提供知识共享许可协议的链接,并说明是否进行了修改。本文中的图片或其他第三方材料均包含在文章的知识共享许可协议中,除非在材料的署名栏中另有说明。如果材料未包含在文章的知识共享许可协议中,且您打算使用的材料不符合法律规定或超出许可使用范围,则您需要直接从版权所有者处获得许可。如需查看该许可的副本,请访问 http://creativecommons.org/licenses/by/4.0/。创意共享公共领域专用免责声明(http://creativecommons.org/publicdomain/zero/1.0/)适用于本文提供的数据,除非在数据的信用行中另有说明。转载与许可引用本文Lei, H., Chen, X., Wang, Z. et al. Correction:银屑病和牙周炎的潜在合并机制探索:生物信息学分析。Hereditas 161, 13 (2024). https://doi.org/10.1186/s41065-024-00315-1Download citationPublished: 04 April 2024DOI: https://doi.org/10.1186/s41065-024-00315-1Share this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a shareable link is not currently available for this article.Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative
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引用次数: 0
Huanglian-Hongqu herb pair improves nonalcoholic fatty liver disease via NF-κB/NLRP3 pathway in mice: network pharmacology, molecular docking and experimental validation 黄连-红曲配伍草药通过NF-κB/NLRP3通路改善小鼠非酒精性脂肪肝:网络药理学、分子对接和实验验证
IF 2.7 3区 生物学 Pub Date : 2024-04-03 DOI: 10.1186/s41065-024-00316-0
Zheng Wang, Hairong Qiu, Yang Yang, Yueyu Zhang, Taiguo Mou, Xiaobo Zhang, Yong Zhang
The Huanglian-Hongqu herb pair (HH) is a carefully crafted traditional Chinese herbal compound designed to address disorders related to glucose and lipid metabolism. Its primary application lies in treating hyperlipidemia and fatty liver conditions. This study explored the potential mechanism of HH in treating non-alcoholic fatty liver disease (NAFLD) through network pharmacology, molecular docking, and in vivo animal experiments. Ultrahigh performanceliquid chromatography-quadrupole/orbitrapmass spectrometry (UPLC-Q-TOF-MS) was employed to identify the chemical composition of HH. Network pharmacology was used to analyze the related signaling pathways affected by HH. Subsequently, the prediction was verified by animal experiment. Finally, we identified 29 components within HH. Network pharmacology unveiled interactions between HH and 153 NAFLD-related targets, highlighting HH’s potential to alleviate NAFLD through NF-κB signaling pathway. Molecular docking analyses illuminated the binding interactions between HH components and key regulatory proteins, including NF-κB, NLRP3, ASC, and Caspase-1. In vivo experiments demonstrated that HH alleviated NAFLD by reducing serum and liver lipid levels, improving liver function, and lowering inflammatory cytokine levels in the serum. Moreover, HH administration downregulated mRNA and protein levels of the NF-κB/NLRP3 pathway. In conclusion, our findings demonstrated that HH has potential therapeutic benefits in ameliorating NAFLD by targeting the NF-κB/NLRP3 pathway, facilitating the broader application of HH in the field of NAFLD.
黄连-红曲配伍草药(HH)是一种精心制作的传统中药复方,旨在治疗与葡萄糖和脂质代谢有关的疾病。其主要应用于治疗高脂血症和脂肪肝。本研究通过网络药理学、分子对接和体内动物实验,探讨了 HH 治疗非酒精性脂肪肝(NAFLD)的潜在机制。采用超高效液相色谱-四极杆/比质谱(UPLC-Q-TOF-MS)鉴定了HH的化学成分。利用网络药理学分析了受 HH 影响的相关信号通路。随后,通过动物实验验证了预测结果。最后,我们确定了 HH 中的 29 种成分。网络药理学揭示了HH与153个非酒精性脂肪肝相关靶点之间的相互作用,突出了HH通过NF-κB信号通路缓解非酒精性脂肪肝的潜力。分子对接分析揭示了HH成分与NF-κB、NLRP3、ASC和Caspase-1等关键调控蛋白之间的结合相互作用。体内实验表明,HH能降低血清和肝脏脂质水平,改善肝功能,降低血清中炎症细胞因子的水平,从而缓解非酒精性脂肪肝。此外,服用 HH 还能降低 NF-κB/NLRP3 通路的 mRNA 和蛋白水平。总之,我们的研究结果表明,HH通过靶向NF-κB/NLRP3通路,在改善非酒精性脂肪肝方面具有潜在的治疗效果,从而促进了HH在非酒精性脂肪肝领域的广泛应用。
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引用次数: 0
A guide to barley mutants. 大麦突变体指南
IF 2.7 3区 生物学 Pub Date : 2024-03-08 DOI: 10.1186/s41065-023-00304-w
Mats Hansson, Helmy M Youssef, Shakhira Zakhrabekova, David Stuart, Jan T Svensson, Christoph Dockter, Nils Stein, Robbie Waugh, Udda Lundqvist, Jerome Franckowiak

Background: Mutants have had a fundamental impact upon scientific and applied genetics. They have paved the way for the molecular and genomic era, and most of today's crop plants are derived from breeding programs involving mutagenic treatments.

Results: Barley (Hordeum vulgare L.) is one of the most widely grown cereals in the world and has a long history as a crop plant. Barley breeding started more than 100 years ago and large breeding programs have collected and generated a wide range of natural and induced mutants, which often were deposited in genebanks around the world. In recent years, an increased interest in genetic diversity has brought many historic mutants into focus because the collections are regarded as valuable resources for understanding the genetic control of barley biology and barley breeding. The increased interest has been fueled also by recent advances in genomic research, which provided new tools and possibilities to analyze and reveal the genetic diversity of mutant collections.

Conclusion: Since detailed knowledge about phenotypic characters of the mutants is the key to success of genetic and genomic studies, we here provide a comprehensive description of mostly morphological barley mutants. The review is closely linked to the International Database for Barley Genes and Barley Genetic Stocks ( bgs.nordgen.org ) where further details and additional images of each mutant described in this review can be found.

背景:突变体对科学和应用遗传学产生了根本性的影响。它们为分子和基因组时代的到来铺平了道路,今天的大多数作物植物都是通过诱变处理的育种计划培育出来的:结果:大麦(Hordeum vulgare L.)是世界上种植最广泛的谷物之一,作为农作物有着悠久的历史。大麦育种始于 100 多年前,大型育种计划收集并产生了大量自然突变体和诱导突变体,这些突变体通常存放在世界各地的基因库中。近年来,人们对遗传多样性的兴趣日益浓厚,许多历史悠久的突变体成为人们关注的焦点,因为这些突变体被视为了解大麦生物学遗传控制和大麦育种的宝贵资源。基因组研究的最新进展也激发了人们的兴趣,为分析和揭示突变体的遗传多样性提供了新的工具和可能性:由于对突变体表型特征的详细了解是遗传和基因组研究取得成功的关键,我们在此对大多数大麦形态突变体进行了全面描述。本综述与大麦基因和大麦基因库国际数据库(bgs.nordgen.org)紧密相连,在该数据库中可以找到本综述中描述的每个突变体的更多详细信息和附加图像。
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引用次数: 0
Bioinformatic analysis and experimental validation of cuproptosis-related LncRNA as a novel biomarker for prognosis and immunotherapy of oral squamous cell carcinoma 杯突相关 LncRNA 作为口腔鳞状细胞癌预后和免疫治疗的新型生物标记物的生物信息学分析和实验验证
IF 2.7 3区 生物学 Pub Date : 2024-02-27 DOI: 10.1186/s41065-024-00311-5
Shuang Liang, Lanting Ji, Zhenyuan Yu, YaHsin Cheng, Ruifang Gao, Wenpeng Yan, Fang Zhang
The novel form of regulatory cell death, cuproptosis, is characterized by proteotoxicity, which ultimately leads to cell death. Its targeting has emerged as a promising therapeutic approach for oral squamous cell carcinoma (OSCC). Long noncoding RNAs (lncRNAs) participate in epigenetic regulation and have been linked to the progression, prognosis, and treatment of OSCC. Thus, this study aimed to identify new cuproptosis-related lncRNAs (CRLs), establish predictive models for clinical prognosis, immune response, and drug sensitivity, and provide novel insights into immune escape and tumor drug resistance. The present study screened eight CRLs (THAP9-AS1, STARD4-AS1, WDFY3-AS2, LINC00847, CDKN2A-DT, AL132800.1, GCC2-AS1, AC005746.1) using Lasso Cox regression analysis to develop an eight-CRL prognostic model. Patients were categorized into high- and low-risk groups using risk scores. To evaluate the predictive ability of the model, Kaplan-Meier analysis, ROC curves, and nomograms were employed. Furthermore, the study investigated the differences in immune function and anticancer drug sensitivity between the high- and low-risk groups. To validate the expression of CRLs in the model, OSCC cell lines were subjected to quantitative real-time fluorescence PCR (qRT-PCR). The results of the study showed that the high-risk group had a shorter overall survival (OS) time in OSCC patients. Cox regression analysis demonstrated that the high-risk score was an independent risk factor for a poor prognosis. The validity of the model was confirmed using ROC curve analysis, and a nomogram was developed to predict the prognosis of OSCC patients. Furthermore, patients in the high-risk group with high TMB had a poorer prognosis. Patients in the low-risk group responded better to immunotherapy than those in the high-risk group. Additionally, the risk scores were significantly associated with drug sensitivity in OSCC patients. Finally, the findings of qRT-PCR supported the reliability of the proposed risk model. The study identified and established the 8-CRL model, which represents a novel pathway of lncRNA regulation of cuproptosis in OSCC. This model provides guidance for the prognosis and treatment of OSCC and offers a new insight into immune escape and tumor drug resistance.
调节性细胞死亡的新形式--杯突变,其特点是蛋白毒性,最终导致细胞死亡。以其为靶点已成为治疗口腔鳞状细胞癌(OSCC)的一种很有前景的方法。长非编码 RNA(lncRNA)参与表观遗传调控,并与 OSCC 的进展、预后和治疗有关。因此,本研究旨在鉴定新的杯突相关lncRNA(CRLs),建立临床预后、免疫反应和药物敏感性的预测模型,并为免疫逃逸和肿瘤耐药性提供新的见解。本研究利用Lasso Cox回归分析筛选了8个CRLs(THAP9-AS1、STARD4-AS1、WDFY3-AS2、LINC00847、CDKN2A-DT、AL132800.1、GCC2-AS1、AC005746.1),建立了8个CRL预后模型。使用风险评分将患者分为高风险组和低风险组。为了评估模型的预测能力,研究人员采用了卡普兰-梅耶分析、ROC 曲线和提名图。此外,研究还调查了高风险组和低风险组在免疫功能和抗癌药物敏感性方面的差异。为了验证模型中 CRLs 的表达,对 OSCC 细胞系进行了实时荧光定量 PCR(qRT-PCR)检测。研究结果表明,高风险组的OSCC患者总生存(OS)时间较短。Cox 回归分析表明,高风险评分是预后不良的独立风险因素。利用 ROC 曲线分析证实了模型的有效性,并建立了预测 OSCC 患者预后的提名图。此外,TMB较高的高危组患者预后较差。低风险组患者对免疫疗法的反应优于高风险组。此外,风险评分与 OSCC 患者对药物的敏感性有显著相关性。最后,qRT-PCR 的研究结果支持了所提出的风险模型的可靠性。该研究发现并建立了8-CRL模型,它代表了OSCC中lncRNA调控杯状突变的新途径。该模型为OSCC的预后和治疗提供了指导,并为免疫逃逸和肿瘤耐药性提供了新的视角。
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引用次数: 0
A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family. FGG 基因的新型突变导致一个中国家族出现低纤维蛋白原血症。
IF 2.7 3区 生物学 Pub Date : 2024-02-20 DOI: 10.1186/s41065-024-00313-3
Xiaoying Xie, Juan Du, Shunkang Geng, Baoqin Yi, Qingpu Li, Jiangcheng Zuo

Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected a family with hypofibrinogenemia, and genetics analysis identify a novel pathogenic variants (c.668G > C, p.Arg223Thr) in the FGG gene. And electron microscope observation revealed significant changes in the ultrastructure of fibrin of the proband. Our research expands the phenotypic and genetic spectrum associated with the FGG gene, which would facilitate in genetic counselling and prenatal genetic diagnosis.

先天性纤溶酶原异常是由纤溶酶原缺陷引起的一组凝血功能障碍,分为四种类型,包括低纤溶酶原血症、低纤溶酶原血症、纤溶酶原异常血症和低纤溶酶原血症。本研究收集了一个低纤维蛋白原血症家族,并通过遗传学分析确定了 FGG 基因中的一个新的致病变体(c.668G > C, p.Arg223Thr)。电子显微镜观察显示,该患者的纤维蛋白超微结构发生了显著变化。我们的研究拓展了与 FGG 基因相关的表型和遗传谱,有助于遗传咨询和产前遗传诊断。
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引用次数: 0
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