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DoWRKY26 positively regulating flavonoid biosynthesis in Dendrobium officinale dowky26正调控铁皮石斛类黄酮生物合成。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-06 DOI: 10.1016/j.gene.2025.149944

Ziling Tao , Shiyu Cai , YiMing Wang, Fengxiu li, Lu Lv, Haimeng Bai, Ludan Li, Jihong Jiang, Xiaoying Cao

Dendrobium officinale is renowned as the foremost among the “Nine Immortal Herbs of China”. Our previous research showed enhanced flavonoid accumulation following induction by the endophyte Wickerhamomyces sp. KLBMPSYLp8. Transcriptome data analysis identified multiple upregulated transcription factor (TF) genes. We conducted transient overexpression analysis of 10 significantly upregulated TF genes in D. officinale leaves. The results demonstrated that transient overexpression of the DoWRKY26 significantly enhanced flavonoid accumulation, with a 33 % increase compared to the empty vector control group. Furthermore, DoWRKY26 overexpression also upregulated the expression levels of key enzyme genes implicated in the flavonoid biosynthesis pathway. Subcellular localization confirmed its nuclear presence. DoWRKY26 expression was induced by salicylic acid (SA), abscisic acid (ABA), 1-Aminocyclopropane-1-carboxylic Acid (ACC) and methyl jasmonate (MeJA). Yeast one-hybrid (Y1H), Electrophoretic mobility shift assay (EMSA) and dual-luciferase reporter assays verified that DoWRKY26 could bind and activate the promoter of DoCCoAOMT. These findings provide a foundational basis for further exploring the biosynthesis and transcriptional regulation mechanisms of flavonoids in D. officinale.

铁皮石斛被誉为“中国九仙”之首。我们之前的研究表明，内生菌Wickerhamomyces sp. KLBMPSYLp8诱导后，黄酮类化合物的积累增强。转录组数据分析发现多个转录因子（TF）基因上调。我们对10个显著上调的TF基因在铁皮草叶片中进行了瞬时过表达分析。结果表明，瞬时过表达dowky26显著增强了黄酮类化合物的积累，与空载体对照组相比，增加了33 %。此外，dowky26的过表达还上调了与类黄酮生物合成途径相关的关键酶基因的表达水平。亚细胞定位证实了其核的存在。水杨酸（SA）、脱落酸（ABA）、1-氨基环丙烷-1-羧酸（ACC）和茉莉酸甲酯（MeJA）诱导dowky26表达。酵母单杂交（Y1H）、电泳迁移率转移试验（EMSA）和双荧光素酶报告子试验证实，dowky26可以结合并激活DoCCoAOMT的启动子。这些发现为进一步探索铁皮石斛黄酮类化合物的生物合成及转录调控机制提供了基础。

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引用次数: 0

Dynamic tumor microenvironment remodeling from laryngeal leukoplakia to carcinoma revealed by single-cell transcriptomics 单细胞转录组学揭示喉白斑到癌的动态肿瘤微环境重塑。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-11-23 DOI: 10.1016/j.gene.2025.149917

Yunyi Liu, Peiyun Zhuang

Laryngeal leukoplakia represents the most frequent precancerous lesion in laryngeal carcinogenesis, yet its transformation mechanisms remain elusive. By performing scRNA-seq on ten clinical specimens (five leukoplakia lesions across pathological stages, four early carcinomas, and one control), we established the first single-cell atlas of this malignant progression. Computational analysis revealed dynamic microenvironmental shifts dominated by epithelial cells, fibroblasts, and mononuclear phagocytes. We identified two critical epithelial subpopulations: Epi_4 (tumor-like cells), a high-grade dysplasia-specific subpopulation with high malignant potential, and Epi_5 (tumor cells) in carcinoma, which carries a favorable prognostic gene signature (Module 3). Furthermore, Epi_4 showed preferential communication with cancer-associated fibroblasts (CAFs) and tumor-associated macrophages (TAMs) via the JAG1-NOTCH4 and CXCL5-CXCR1 axes, suggesting actionable therapeutic targets. We also observed the progressive activation of genes involved in redox processes (NQO1, GSTM3, UCHL1, NTRK2) via the KEAP1-NRF2 pathway. This work systematically characterizes the cellular and molecular landscape during laryngeal leukoplakia malignant transformation, providing a framework for future mechanistic studies and early detection strategies.

喉白斑是喉癌发生中最常见的癌前病变，但其转化机制尚不清楚。通过对10个临床标本（5个不同病理阶段的白斑病变，4个早期癌和1个对照）进行scrna测序，我们建立了这种恶性进展的第一个单细胞图谱。计算分析揭示了由上皮细胞、成纤维细胞和单核吞噬细胞主导的动态微环境变化。我们发现了两个关键的上皮亚群：Epi_4（肿瘤样细胞），一个高恶性潜能的高度发育不良特异性亚群，和Epi_5（肿瘤细胞），在癌中携带有利的预后基因标记（模块3）。此外，Epi_4表现出通过JAG1-NOTCH4和CXCL5-CXCR1轴与癌相关成纤维细胞（CAFs）和肿瘤相关巨噬细胞（tam）的优先通讯，提示了可行的治疗靶点。我们还观察到通过KEAP1-NRF2途径参与氧化还原过程的基因（NQO1、GSTM3、UCHL1、NTRK2）的逐步激活。这项工作系统地描述了喉白斑恶性转化过程中的细胞和分子景观，为未来的机制研究和早期检测策略提供了框架。

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引用次数: 0

Genetic analysis of a Chinese family with non-syndromic tooth agenesis may reveal a potential multi-locus etiology 对一个中国非综合征性牙齿发育家族的遗传分析可能揭示潜在的多位点病因。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-11-20 DOI: 10.1016/j.gene.2025.149915

Youmei Wu, Xinzhu Li, Junyang Chen, Bo Yang, Xiaojun Yang, Jin Hou

Tooth agenesis (TA), one of the most common craniofacial developmental anomalies, is characterized by the congenital absence of one or more teeth. While numerous genes have been implicated in non-syndromic tooth agenesis (NSTA), its genetic architecture often remains complex. In this study, we investigated the genetic basis of NSTA in a two-generation Chinese family utilizing whole-exome sequencing (WES) complemented by Sanger sequencing. Our analysis revealed a complex segregation pattern of multiple variants. After systematic filtering based on pathogenicity predictions and minor allele frequency (MAF), we identified eight potential contributory variants. These include homozygous missense variants in EDAR (c.1109 T > C), GHR (c.1630A > C), and COL17A1 (c.629C > T), a heterozygous missense variant in CEP152 (c.161C > T), and DSP (c.5213G > A) and three rare heterozygous missense variants in CCDC154 (c.925C > T), FRAS1 (c.9628G > A), and NBAS (c.5095G > A). Notably, the variants in GHR, CCDC154, FRAS1, and NBAS represent potential novel candidate genes for NSTA, thereby expanding the variant spectrum associated with this condition. The co-segregation of these multi-locus variants suggests that inheritance might be complex, perhaps involving oligogenic mechanisms. This points to the possibility of intricate genetic interactions in tooth development, offering new clues about the molecular basis of familial NSTA.

牙齿发育不全（TA）是最常见的颅面发育异常之一，其特征是先天性缺失一颗或多颗牙齿。虽然许多基因与非综合征性牙齿发育（NSTA）有关，但其遗传结构通常仍然很复杂。在这项研究中，我们利用全外显子组测序（WES）和桑格测序（Sanger sequencing）研究了一个中国两代家庭NSTA的遗传基础。我们的分析揭示了多种变体的复杂分离模式。经过基于致病性预测和次要等位基因频率（MAF）的系统过滤，我们确定了8个潜在的致病变异。EDAR包括纯合子的错义变体(c.1109 T > C), GHR (c.1630A > C),和COL17A1 (c.629C > T),一个杂合的错义变体在CEP152 (c.161C > T),和DSP (c.5213G > a)和三个罕见的杂合的错义变体在CCDC154 (c.925C > T), FRAS1 (c.9628G > a),和nba (c.5095G > a)。值得注意的是，GHR、CCDC154、FRAS1和NBAS中的变异代表了NSTA的潜在新候选基因，从而扩大了与该疾病相关的变异谱。这些多位点变异的共分离表明，遗传可能是复杂的，可能涉及寡生机制。这表明了牙齿发育过程中复杂的遗传相互作用的可能性，为家族性NSTA的分子基础提供了新的线索。

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引用次数: 0

TRPV4-mediated mechanotransduction of matrix stiffness in the pathogenesis, progression, and malignant transformation of oral submucous fibrosis trpv4介导的基质刚度在口腔黏膜下纤维化的发病、进展和恶性转化中的机械转导。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-04 DOI: 10.1016/j.gene.2025.149936

Sampurna Raha, Rajiv S. Desai, Shivani P. Bansal, Pankaj M. Shirsat, Pooja S. Prasad

Oral Submucous Fibrosis (OSF) is a long-standing, scarring, inflammatory, potentially malignant disorder induced by areca nut. The transient receptor potential vanilloid 4 (TRPV4), a cation channel permeable to Ca²⁺, in the TRPV family, is implicated in wound healing, fibrotic changes and malignancy, but its role as a mechanosensor for matrix-stiffness and stress in OSF and its malignant transformation to oral squamous cell carcinoma (OSCC) remains unexplored. The current research sought to investigate the probable involvement of TRPV4 in the onset different OSF stages and its progression to malignancy by immunohistochemistry. Primary antibodies targeting TRPV4 were applied to formalin-fixed paraffin-embedded blocks from ten cases for each category: (a) Stage-1 OSF, (b) Stage 2 OSF, (c) Stage 3 OSF, (d) Stage 4 OSF, (e) OSCC + OSF, and (vi) OSCC − OSF. Additionally, buccal mucosa tissues from ten healthy individuals (NOM) were utilized as control. Mean epithelial quick scores of TRPV4 in NOM, Stages 1–4 OSF, and OSCC with and without OSF were 1.2, 2.5, 3.9, 4.5, 4.6, 5.8, and 6.2, while connective tissue scores were 1.5, 3.5, 4.1, 4.7, 5.3, 5.9, and 6.5, respectively. TRPV4 expression was upregulated in Stages 3 OSF and 4 OSF and OSCC in the presence or absence of OSF compared to NOM and Stage 1 and 2 OSF. This study evaluates the unpaved role of TRPV4 in OSF, mediated by various canonical pathways, contributing to its development by increasing matrix-stiffness and rigidity, which further upregulates TRPV4 expression, ultimately facilitating carcinogenesis.

口腔黏膜下纤维化（OSF）是由槟榔引起的一种长期存在的、疤痕性的、炎症性的、潜在的恶性疾病。TRPV家族中的瞬时受体电位香兰素4 （TRPV4）是一种可渗透到Ca2+的阳离子通道，与伤口愈合、纤维化改变和恶性肿瘤有关，但其作为OSF基质刚度和应力的机械传感器及其向口腔鳞状细胞癌（OSCC）的恶性转化的作用仍未被探索。本研究试图通过免疫组织化学方法探讨TRPV4在OSF不同阶段的发病及其向恶性发展中的可能参与。将靶向TRPV4的一抗应用于10例福尔马林固定石蜡包埋块中，每个类别：(a) 1期OSF， (b) 2期OSF， (c) 3期OSF， (d) 4期OSF， (e) OSCC + OSF, (vi) OSCC - OSF。另外，以10名健康个体（NOM）的口腔黏膜组织作为对照。TRPV4在NOM、1-4期OSF和有无OSF的OSCC中的平均上皮快速评分分别为1.2、2.5、3.9、4.5、4.6、5.8和6.2，结缔组织评分分别为1.5、3.5、4.1、4.7、5.3、5.9和6.5。与NOM和第1、2期OSF相比，无论OSF存在与否，TRPV4在第3期OSF和第4期OSF和OSCC中的表达均上调。本研究评估了TRPV4在OSF中的非铺平作用，通过多种典型途径介导，通过增加基质刚度和刚性来促进其发展，从而进一步上调TRPV4的表达，最终促进癌变。

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引用次数: 0

Editors’ Corner: Suppressor of cytokine signaling 6 (SOCS6) mediates ubiquitination-dependent degradation of SLC7A11 to promote ferroptosis in ovarian cancer 细胞因子信号传导抑制因子6 （SOCS6）介导SLC7A11泛素化依赖性降解，促进卵巢癌铁下垂。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-06 DOI: 10.1016/j.gene.2025.149937

Xavier Graña

引用次数: 0

Reassessing the tmRNA-SmpB complex as a virulence determinant 重新评估tmRNA-SmpB复合体作为毒力决定因素的作用。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-11-28 DOI: 10.1016/j.gene.2025.149928

T. Nagarajan , N. Arulmuthu Kumaran

Rescuing stalled ribosomes from the truncated mRNA is identified as a crucial process for the survival of a bacterial cell. A small RNA named tmRNA (transfer messenger RNA), and protein SmpB (Small protein B), together constitute a ribosome rescue apparatus which is ubiquitous among most of the eubacteria. tmRNA mediated ribosome rescue process (also called trans-translation) has been found to be the major pathway of clearance of stalled ribosome complexes. In the process, tmRNA-SmpB complex recycles stalled ribosomes by making them undergo normal translation and termination. Apart from rescuing stalled ribosomes, trans-translation modulates other cellular pathways (such as cell cycle, oxidative stress, nutritional stress, DNA damage response and so on) by regulating the intracellular level of various proteins. It becomes more and more obvious that the function of trans-translation apparatus is diverse and plays a role in bacterial pathogenesis also. This review will focus on the key findings on the involvement of tmRNA and its partner SmpB in regulation of pathogenesis and virulence in different pathogenic bacteria.

从截断的mRNA中挽救停滞的核糖体被认为是细菌细胞存活的关键过程。一种名为tmRNA （transfer messenger RNA）的小RNA和蛋白质SmpB （small protein B）共同构成了一种核糖体拯救装置，在大多数真细菌和古细菌中普遍存在。tmRNA介导的核糖体拯救过程（也称为反翻译）被发现是清除停滞核糖体复合物的主要途径。在这个过程中，tmRNA-SmpB复合体循环通过使核糖体进行正常的翻译和终止而使核糖体停滞。除了挽救停滞的核糖体外，反翻译还通过调节细胞内各种蛋白质的水平来调节其他细胞通路（如细胞周期、氧化应激、营养应激、DNA损伤反应等）。反翻译体的功能多样性越来越明显，在细菌的发病机制中也发挥着重要作用。本文将重点介绍tmRNA及其伴合体SmpB在不同致病菌的发病机制和毒力调控中的重要发现。

引用次数: 0

Comprehensive transcriptomic profiling reveals lncRNA–miRNA–mRNA regulatory networks in skeletal muscle aging of mice 综合转录组学分析揭示了小鼠骨骼肌衰老中的lncRNA-miRNA-mRNA调控网络。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-08 DOI: 10.1016/j.gene.2025.149946

Jinrui Jia, Qingyan Wang, Xuanye Jiang, Hao Chen, Minwei Huang, Bing Ni, Huiying Zhang, Xin’e Shi, Jianjun Jin

Purpose

As organisms age, physiological and pathological changes occur, with altered lncRNA expression playing a key role. However, their regulatory mechanisms in aging remain unclear. This study investigates the differential expression of lncRNAs between aged and young mice, and explores the lncRNA–miRNA–mRNA interplay to gain insights into the molecular basis of aging.

Methods

We performed whole-transcriptome sequencing on tibialis anterior muscles from four aged (20-month-old) and four young (3-month-old) mice. Hub genes were identified via PPI and WGCNA analyses, followed by functional enrichment. Integrative analysis revealed interactions among differentially expressed lncRNAs, miRNAs, and mRNAs, leading to the construction of cis-/trans-regulatory and ceRNA networks.

Results

Our results revealed 746 significantly differentially expressed known lncRNAs (465 upregulated, 281 downregulated) and 27 novel lncRNAs in aged mouse TA muscle, alongside 50 miRNAs and 1124 mRNAs. Based on lncRNA classification (antisense, intergenic, intronic), we constructed subtype-specific cis- and trans-regulatory networks. Hub genes were identified via PPI and WGCNA analyses to further refine these networks. Highly expressed and variable genes were also integrated into regulatory mapping. Enrichment analyses indicated involvement in extracellular matrix remodeling, epithelial cell migration, and immune response.

Conclusions

This study systematically profiled age-related changes in lncRNAs, miRNAs, and mRNAs in TA muscle, and constructed core regulatory networks based on lncRNA subtypes. This study systematically profiled age-related transcriptomic changes in mouse skeletal muscle and constructed lncRNA–miRNA–mRNA regulatory networks associated with aging. These results provide a valuable resource and generate hypotheses for future experimental validation of lncRNA-mediated regulatory mechanisms in muscle aging.

目的：随着生物年龄的增长，生理病理发生变化，lncRNA表达的改变起着关键作用。然而，它们在衰老中的调节机制尚不清楚。本研究通过研究老年小鼠和幼龄小鼠lncrna的差异表达，探讨lncRNA-miRNA-mRNA的相互作用，从而深入了解衰老的分子基础。方法：我们对4只成年（20月龄）和4只幼年（3月龄）小鼠的胫骨前肌进行了全转录组测序。通过PPI和WGCNA分析鉴定Hub基因，然后进行功能富集。整合分析揭示了差异表达的lncrna、mirna和mrna之间的相互作用，导致顺式/反式调控和ceRNA网络的构建。结果：我们的研究结果揭示了746个已知lncrna（465个上调，281个下调）和27个新lncrna在老年小鼠TA肌中显著表达差异，以及50个mirna和1124个mrna。基于lncRNA分类（反义、基因间、内含子），我们构建了亚型特异性的顺式和反式调控网络。通过PPI和WGCNA分析鉴定枢纽基因，进一步完善这些网络。高表达基因和可变基因也被整合到调控图谱中。富集分析表明参与细胞外基质重塑、上皮细胞迁移和免疫应答。结论：本研究系统分析了TA肌中lncRNA、mirna和mrna的年龄相关变化，并构建了基于lncRNA亚型的核心调控网络。本研究系统分析了小鼠骨骼肌中与年龄相关的转录组变化，构建了与衰老相关的lncRNA-miRNA-mRNA调控网络。这些结果为未来实验验证lncrna介导的肌肉衰老调控机制提供了宝贵的资源和假设。

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引用次数: 0

Target of rapamycin (TOR) kinases in Leishmania: Insights from comparative analyses with Trypanosomatids 雷帕霉素（TOR）激酶在利什曼原虫中的靶标：来自与锥虫病比较分析的见解。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-07 DOI: 10.1016/j.gene.2025.149933

Soumi Chowdhury , Harsh Pawar

The Target of Rapamycin (TOR) kinase family is a central regulator of eukaryotic cell growth and metabolism. Unlike most eukaryotes that possess one or two TOR genes, Leishmania species encode four distinct paralogs, suggesting lineage-specific expansion and functional diversification. In this study, we performed a comprehensive phylogenetic and domain analysis of TOR paralogs across multiple Leishmania species, with Trypanosoma brucei serving as a comparative reference. TOR1 and TOR2 were found to be highly conserved, possessing canonical FAT, FRB, and PI3Kc domains, consistent with their roles in the essential TORC1 and TORC2 complexes. TOR3 and TOR4 displayed significant sequence divergence and altered domain structures, particularly in visceral and mucocutaneous species. TOR3 lacks the FRB domain but retains kinase activity and is implicated in arginine sensing and acidocalcisome biogenesis. TOR4 shows the highest divergence, including truncated domains and species-specific clustering, suggesting a role in parasite adaptation or stage differentiation. Functional annotations further support this, as TOR1 and TOR2 are enriched in kinase functions, while TOR3 and TOR4 are associated with hypothetical or uncharacterized proteins. The conserved PI3Kc domain across all paralogs offers a target for drug development. These findings enhance our understanding of TOR evolution and its therapeutic potential in leishmaniasis.

雷帕霉素靶蛋白（TOR）激酶家族是真核细胞生长和代谢的中心调节因子。与大多数拥有一个或两个TOR基因的真核生物不同，利什曼原虫物种编码四个不同的类似物，表明谱系特异性扩展和功能多样化。在这项研究中，我们对多个利什曼原虫物种的TOR类似性进行了全面的系统发育和结构域分析，并以布鲁氏锥虫作为比较参考。TOR1和TOR2是高度保守的，具有典型的FAT、FRB和PI3Kc结构域，这与它们在TORC1和TORC2复合物中的作用一致。TOR3和TOR4表现出明显的序列分化和结构域结构改变，特别是在内脏和粘膜皮肤物种中。TOR3缺乏FRB结构域，但保留激酶活性，并与精氨酸感知和酸钙酶体的生物发生有关。TOR4表现出最高的分化，包括截断的结构域和物种特异性聚类，表明其在寄生虫适应或阶段分化中起作用。功能注释进一步支持了这一点，因为TOR1和TOR2富含激酶功能，而TOR3和TOR4与假设的或未表征的蛋白质相关。保守的PI3Kc结构域在所有类似物中都为药物开发提供了一个靶点。这些发现增强了我们对TOR进化及其治疗利什曼病潜力的理解。

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引用次数: 0

CRISPR 2.0: Expanding the genome engineering Toolbox for epigenetics, RNA editing, and molecular diagnostics CRISPR 2.0：扩展基因组工程工具箱，用于表观遗传学、RNA编辑和分子诊断。

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-04 DOI: 10.1016/j.gene.2025.149938

Khushboo Pradhan , Sindhu Anoop

Non-canonical CRISPR systems adaptation has led to genome editing through nucleases, and the development of transcriptional and epigenetic regulation, transcriptome editing, and molecular diagnostics has resulted in a diversified set of tools—CRISPR 2.0. In this review, the author summarizes the mechanisms and recent engineering advances of (i) dCas9-based epigenetic effectors, (ii) RNA-targeting Cas13 systems and engineered RNA editors, (iii) DNA base editors and prime editors, and (iv) CRISPR-powered diagnostic platforms and their translational readiness. There is a critical comparison of the various approaches (e.g., RNAi/ASO versus Cas13-based methods; base editing versus prime editing) along with practical translational considerations such as delivery technologies, safety (off-target/edit windows, mosaicism), and regulatory pathways which are evaluated. Three concise case studies refer to map laboratory evidence to clinical or near-clinical outcomes and the ethical and governance discussion is widened to include global access, intellectual property and equity in deployment. Finally, the authors classify technologies according to their level of readiness — diagnostics and some ex-vivo therapeutic approaches are already in or very close to clinical use, chosen in-vivo editing methods are undergoing early trials, and AI-assisted nuclease design is still mostly theoretical but is getting better fast. This comprehensive viewpoint is intended to help researchers and physicians understand which CRISPR tools are most likely to be translated soon and where more validation is required.

非规范CRISPR系统的适应导致了通过核酸酶进行基因组编辑，转录和表观遗传调控、转录组编辑和分子诊断的发展导致了一套多样化的工具——CRISPR 2.0。在这篇综述中，作者总结了(i)基于dcas9的表观遗传效应物的机制和最近的工程进展，（ii） RNA靶向Cas13系统和工程化RNA编辑器，（iii） DNA碱基编辑器和引物编辑器，以及（iv） crispr驱动的诊断平台及其翻译准备。对各种方法（例如，RNAi/ASO与基于cas13的方法；碱基编辑与初始编辑）以及实际翻译考虑因素（如传递技术、安全性（脱靶/编辑窗口、镶嵌）和评估的调控途径）进行了关键的比较。三个简明的案例研究涉及将实验室证据映射到临床或近临床结果，并扩大了伦理和治理讨论，包括全球获取、知识产权和部署的公平性。最后，作者根据技术的准备程度对技术进行了分类——诊断和一些离体治疗方法已经进入或非常接近临床应用，选定的体内编辑方法正在进行早期试验，人工智能辅助核酸酶设计仍然主要是理论上的，但正在快速发展。这一全面的观点旨在帮助研究人员和医生了解哪些CRISPR工具最有可能很快被翻译，哪些需要更多的验证。

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引用次数: 0

Reference genes for quantitative real-time polymerase chain reaction in in vitro non-alcoholic fatty liver disease 体外非酒精性脂肪肝定量实时聚合酶链反应的内参基因

IF 2.4 3区生物学 Q2 GENETICS & HEREDITY

Gene

Pub Date : 2026-02-10 Epub Date: 2025-12-02 DOI: 10.1016/j.gene.2025.149931

Jingzhi Chen , Xingmi Chen , Ying Liu , Chunming Lyu , Ming Xu , Yang Yang

Background

In metabolic dysfunction-associated fatty liver disease (MAFLD) research, reference genes for qPCR are crucial but often unvalidated.

Methods

RNA-seq was performed in control and free fatty acid (FFA) treated AML12 cells, and the candidates for reference gene were selected by previous literatures and filtered by dual-index ranking via normalization of coefficient variation and Log₂FoldChange in the RNA-seq library. qPCR data was further analyzed via NormFinder, BestKeeper, geNorm, ΔCt and RefFinder to assess reference gene expression stability.

Results

FFA treated cells showed a significantly increased lipid droplet accumulation. RNA-seq dual-index ranking and RefFinder identified that Ywhaz was the most stable reference gene.

Conclusion

Our finding revealed that Ywhaz is the most stable reference gene for qPCR in the AML12 cell model of FFA-induced MAFLD, and provided a reliable procedure for screening reference genes.

背景：在代谢功能障碍相关脂肪性肝病（MAFLD）的研究中，qPCR的内参基因是至关重要的，但往往未经验证。方法：对照AML12细胞和游离脂肪酸（FFA）处理AML12细胞进行RNA-seq，参考前人文献筛选出内参基因候选基因，通过系数变异归一化和RNA-seq文库Log2FoldChange双指标排序筛选。通过NormFinder、BestKeeper、geNorm、ΔCt和RefFinder对qPCR数据进行进一步分析，评估内参基因表达的稳定性。结果：FFA处理后的细胞脂滴积累明显增加。RNA-seq双指数排序和RefFinder鉴定Ywhaz是最稳定的内参基因。结论：Ywhaz是ffa诱导的MAFLD AML12细胞模型中最稳定的qPCR内参基因，为筛选内参基因提供了可靠的方法。

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引用次数: 0