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Integrating cases, enhancing interaction, and promoting learning through assessment: teaching reform and practical outcomes of medical genetics under the OBE concept. 结合案例,加强互动,以评促学:OBE理念下的医学遗传学教学改革与实践成果
遗传 Pub Date : 2026-07-01 DOI: 10.16288/j.yczz.25-302
Shi-Qian Liang, Fan Fan, Yi-Yang Hu, Jun-Long Zhao, Chun-Chen Gao, Liang Wang, Xiu-Li Cao, Lei Feng, Hong-Yan Qin
{"title":"Integrating cases, enhancing interaction, and promoting learning through assessment: teaching reform and practical outcomes of medical genetics under the OBE concept.","authors":"Shi-Qian Liang, Fan Fan, Yi-Yang Hu, Jun-Long Zhao, Chun-Chen Gao, Liang Wang, Xiu-Li Cao, Lei Feng, Hong-Yan Qin","doi":"10.16288/j.yczz.25-302","DOIUrl":"https://doi.org/10.16288/j.yczz.25-302","url":null,"abstract":"<p><p>In the new era, the teaching of Medical Genetics requires medical students to not only master solid knowledge, but also possess practical abilities in diagnosing and treating clinical genetic diseases. This paper systematically elaborates on the design and practical exploration of teaching reform in the Medical Genetics course under the Outcome-Based Education (OBE) concept. By constructing a structured teaching system closely aligned with clinical practice, building a teaching model centered on clinical cases, carrying out diverse teaching activities, developing a \"boundless classroom\", and establishing a multi-dimensional assessment system, we have achieved a deep integration of knowledge transmission and clinical reasoning training. The teaching effectiveness has shown that this model significantly enhances students' case analysis abilities, learning motivation, and innovative capacity. However, the implementation process has also revealed deep-seated challenges in the practical teaching component, such as students facing difficulties in getting started, employing unsystematic methods, producing superficial results, and the imperfection of the evaluation mechanism. Drawing on exemplary domestic teaching cases, this paper proposes that future efforts must synergize two dimensions: \"resource support\" and \"pedagogical design\". This involves constructing a tiered, progressive practical ability training chain, improving the faculty development support system, and exploring the use of artificial intelligence to establish process-oriented data platforms and diversified evaluation mechanisms. By putting the OBE concept into practice, we aim to promote a deep transformation of the Medical Genetics course from \"knowledge transmission\" to \"competency development\", thereby laying a solid foundation for cultivating outstanding medical talent capable of meeting future medical demands.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"48 7","pages":"741-750"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148473220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The retrotransposon LINE-1: a double-edged sword in tumorigenesis. 逆转录转座子LINE-1:肿瘤发生中的双刃剑。
遗传 Pub Date : 2026-07-01 DOI: 10.16288/j.yczz.25-289
Lu Tian, Qian Liu, Shan Cen, Xiao-Yu Li
{"title":"The retrotransposon LINE-1: a double-edged sword in tumorigenesis.","authors":"Lu Tian, Qian Liu, Shan Cen, Xiao-Yu Li","doi":"10.16288/j.yczz.25-289","DOIUrl":"https://doi.org/10.16288/j.yczz.25-289","url":null,"abstract":"<p><p>Transposons, also known as jumping genes, are DNA sequences capable of relocating within or between chromosomes. Long interspersed element-1 (LINE-1), the only autonomously active retrotransposon in the human genome, plays a critical role in maintaining genomic stability through its dynamic regulation. Under normal physiological conditions, the host employs epigenetic and other mechanisms to maintain LINE-1 in a silenced state. However, when this precise regulatory control is disrupted, aberrant LINE-1 activation can lead to insertional mutations, resulting in genomic instability and the development of various genetic disorders and malignant tumors. Recent evidence has demonstrated elevated LINE-1 expression in multiple cancers, such as breast, esophageal, lung, and colorectal cancer, suggesting a close association between LINE-1 dysregulation and tumorigenesis. This review summarizes the multi-layered regulatory network governing LINE-1, encompassing epigenetic modifications, non-coding RNAs, and various host restriction factors. It also explores the molecular mechanisms underlying LINE-1 aberrant activation in the tumor microenvironment and outlines the diverse pathways through which LINE-1 influences tumor development, such as compromising genomic stability, triggering inflammation and immune responses, and participating in cellular immortalization. This review not only provides a theoretical foundation for utilizing LINE-1 as a molecular biomarker in cancer diagnosis but also offers new perspectives for developing novel anti-tumor therapeutic strategies based on LINE-1 regulation.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"48 7","pages":"671-689"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148473223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Regulatory mechanism of Pabpc1a during zebrafish vasculogenesis. 斑马鱼血管发生过程中Pabpc1a的调控机制。
遗传 Pub Date : 2026-07-01 DOI: 10.16288/j.yczz.26-042
Yu-Qin Hu, Fan Liu, Ying Li, Lu Wang
{"title":"Regulatory mechanism of Pabpc1a during zebrafish vasculogenesis.","authors":"Yu-Qin Hu, Fan Liu, Ying Li, Lu Wang","doi":"10.16288/j.yczz.26-042","DOIUrl":"https://doi.org/10.16288/j.yczz.26-042","url":null,"abstract":"<p><p>Vascular development begins with vasculogenesis during early embryogenesis. This process is controlled by a highly integrated, multi-layered molecular network. However, the role of post-transcriptional regulation in this context remains poorly understood. Cytoplasmic poly(A) binding protein 1a (Pabpc1a<i>)</i> is a key RNA-binding protein that regulates gene expression at the post-transcriptional level and participates in many physiological and pathological processes. Its role in vascular development, however, is still unclear. In this study, we first found that <i>pabpc1a</i> is highly expressed in endothelial cells during the critical window of vasculogenesis. We then generated a <i>pabpc1a</i> knockout model using CRISPR/Cas9. Functional analyses showed that loss of <i>pabpc1a</i> disrupted the expression of genes involved in arterial-venous specification and altered the arterial-to-venous diameter ratio. In contrast, overexpression of <i>pabpc1a</i> effectively rescued the vascular defects. Mechanistically, transcriptomic analysis revealed widespread gene expression changes in endothelial cells lacking <i>pabpc1a</i>. Pathways related to translation, ribosome biogenesis, and energy metabolism were significantly downregulated. These findings suggest that Pabpc1a regulates vasculogenesis by coordinating protein synthesis and metabolic homeostasis. In summary, our study demonstrates Pabpc1a as an essential post-transcriptional regulator during vasculogenesis and provides new insight into the regulatory network governing vascular development.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"48 7","pages":"714-725"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148473160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of biological age for aging evaluation and its clinical applications. 生物年龄评估在衰老评价中的应用及其临床应用。
遗传 Pub Date : 2026-07-01 DOI: 10.16288/j.yczz.26-015
Dan-Qing Huang, Jing Guo, Yan Guo, Tie-Lin Yang
{"title":"Assessment of biological age for aging evaluation and its clinical applications.","authors":"Dan-Qing Huang, Jing Guo, Yan Guo, Tie-Lin Yang","doi":"10.16288/j.yczz.26-015","DOIUrl":"https://doi.org/10.16288/j.yczz.26-015","url":null,"abstract":"<p><p>As the global population ages, the development of methods that can accurately quantify individual aging status and overcome the limitations of chronological age assessment has become an important need in aging research and precision medicine. Biological age serves as an important tool for assessing an individual's true physiological aging process and disease risk by integrating multi-omics data and organ-specific biomarkers. In this review, we systematically summarize the development of methods for assessing aging, with a focus on the construction strategies and evolution of aging clocks based on epigenetic, transcriptomic, proteomic, and metabolomic markers. We also discuss emerging approaches for organ-specific aging assessment based on imaging data and the integration of multi-omics data. By synthesizing evidence for the clinical applications of these approaches in the early screening and risk stratification of aging-related diseases, personalized interventions, and health management, we further highlight the importance and translational potential of biological age in precision aging assessment and intervention.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"48 7","pages":"690-700"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148473168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Machine learning-based geographical ancestry inference model for the Han Chinese population. 基于机器学习的汉人地理血统推断模型。
遗传 Pub Date : 2026-07-01 DOI: 10.16288/j.yczz.25-261
Shuai-Qi Wang, Chun-Nian Wang, De-Qin Zhang, Lin-Lin Lou, Yi-Ting Ban, Li Jiang, Cai-Xia Li
{"title":"Machine learning-based geographical ancestry inference model for the Han Chinese population.","authors":"Shuai-Qi Wang, Chun-Nian Wang, De-Qin Zhang, Lin-Lin Lou, Yi-Ting Ban, Li Jiang, Cai-Xia Li","doi":"10.16288/j.yczz.25-261","DOIUrl":"10.16288/j.yczz.25-261","url":null,"abstract":"<p><p>The Han Chinese population exhibits a complex genetic structure characterized by subtle yet discernible regional differentiation. Elucidating this fine-scale population structure and developing robust models for biogeographical ancestry inference are of great significance for revealing population evolutionary patterns and achieving precise ancestry inference. However, ancestry inference models specifically tailored to the genetic diversity within the domestic Han Chinese population remain scarce. In this study, we analyzed high-density SNP data from 1,229 Han Chinese individuals across eight provinces to investigate the correlation between genetic variation and geographic distribution, and to construct a machine learning-based model for regional ancestry prediction. After stringent quality control (including linkage disequilibrium pruning), we retained 208,193 SNPs for downstream analysis. Principal component analysis (PCA) and ADMIXTURE clustering revealed measurable genetic stratification corresponding to geography, supporting the delineation of seven distinct genetic clusters within the Han population. Leveraging the top principal components as features, we trained and compared multiple classifiers-XGBoost, random forest, and <i>K</i>-nearest neighbors-<i>via</i> five-fold cross-validation on the reference set, with model performance evaluated using both top-rank prediction accuracy and likelihood ratio (LR)-based metrics. The results showed that the PCA-XGBoost model achieved the optimal prediction performance in the reference set, with a first-rank prediction accuracy of 87.66% and an LR-based accuracy of 96.87%. In independent test sets, the PCA-XGBoost model maintained strong performance (first-rank prediction accuracy >85%; LR-based accuracy >95%), demonstrating excellent generalizability and stability. In summary, the PCA-XGBoost predictive model developed in this study demonstrates high efficiency, robustness, and accuracy, offering a reliable methodological tool for research in population genetics and forensic genetics.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"48 7","pages":"726-740"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148473203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Potential risk proteins for suicide attempts: multi-omics analysis based on European population biobanks. 自杀企图的潜在风险蛋白:基于欧洲人口生物银行的多组学分析。
遗传 Pub Date : 2026-07-01 DOI: 10.16288/j.yczz.25-201
Mei-Qi Peng, Bo Xiang
{"title":"Potential risk proteins for suicide attempts: multi-omics analysis based on European population biobanks.","authors":"Mei-Qi Peng, Bo Xiang","doi":"10.16288/j.yczz.25-201","DOIUrl":"10.16288/j.yczz.25-201","url":null,"abstract":"<p><p>Suicide is defined as an intentional act of ending one's own life. Suicide attempt (SA) is a significant risk factor for suicide death. Research on SA has progressed from socio-psychological perspectives to the molecular and genetic levels. While the biological mechanisms underlying genome-wide association studies (GWAS) identified risk loci remain largely unclear. To investigate the potential risk mechanisms, we constructed a systematic analytic pipeline using brain protein quantitative trait locus (pQTL) datasets (Banner, <i>N</i>=152; ROSMAP, <i>N</i>=376), a brain expression quantitative trait locus (eQTL) datasets (<i>N</i>=452), and SA GWAS summary statistics (<i>N</i><sub>case</sub>=35,786, <i>N</i><sub>control</sub>=779,392). We performed proteome-wide association study (PWAS), Mendelian randomization (MR), Bayesian colocalization analysis, transcriptome-wide association study (TWAS), and multi-marker analysis of genomic annotation (MAGMA) to systematically identify and screen for novel genetically supported candidate proteins related to the biological mechanism of SA in the brain. For functional annotation, we used the GeneMANIA to bulid a functional prediction network integrating co-expression, physical interactions, and pathway colocalization to identify core proteins. PWAS identified three brain proteins whose genetically predicted abundance was significantly associated with SA. Among them, GMPPB was prioritized as putative causal protein, supported by MR analysis (false discovery rate, FDR<0.05) and Bayesian colocalization analysis (posterior probability PPH<sub>4</sub>≥0.8). Specifically, higher genetically predicted GMPPB protein levels were associated with increased risk of SA. Although our analyses primarily relied on datasets from European-ancestry populations, the shared genetic architecture across populations and the generalizability of genome-wide data analytical approaches suggest that our findings may still provide useful insights into the biological mechanisms underlying SA and help inform the development of intervention strategies and genetic counseling in Chinese populations.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"48 7","pages":"701-713"},"PeriodicalIF":0.0,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148473233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
AcGLK2 involves anthocyanin biosynthesis via bidirectionally modulating expression of MYB transcription factors in Actinidia chinensis. AcGLK2通过双向调节猕猴桃MYB转录因子的表达参与花青素的生物合成。
IF 9.5
园艺研究(英文) Pub Date : 2026-07-01 DOI: 10.1093/hr/uhag105
Lili Zhao, Mingzhu Tang, Guocheng Wang, Ping Wang, Zhongru Cui, Yiwei Zhao, Song He, Pengpeng Zheng, Junyang Yue, Songhu Wang, Yongsheng Liu, Lihuan Wang
{"title":"AcGLK2 involves anthocyanin biosynthesis via bidirectionally modulating expression of MYB transcription factors in <i>Actinidia chinensis</i>.","authors":"Lili Zhao, Mingzhu Tang, Guocheng Wang, Ping Wang, Zhongru Cui, Yiwei Zhao, Song He, Pengpeng Zheng, Junyang Yue, Songhu Wang, Yongsheng Liu, Lihuan Wang","doi":"10.1093/hr/uhag105","DOIUrl":"10.1093/hr/uhag105","url":null,"abstract":"<p><p>The GOLDEN2-LIKE (GLK) gene family, known for its role in chloroplast development, has recently been implicated in involvement of anthocyanin biosynthesis in kiwifruit (<i>Actinidia</i> spp.), but the underlying regulatory mechanism remains unclear. Here we report the characterization of a kiwifruit GLK homolog AcGLK2 in regulating anthocyanin accumulation. We found that expression of <i>AcGLK2</i> is much higher exclusively in the red pigment-accumulated fruit tissue. Overexpression of AcGLK2 in Arabidopsis and kiwifruit significantly enhanced anthocyanin content, whereas its RNAi-mediated silencing compromised anthocyanin accumulation. RNA-Seq analysis revealed significant upregulation of many structural genes and transcription factors (TFs) associated with the flavonoid pathway in AcGLK2-overexpressing kiwifruit. ChIP-Seq analysis indicated that AcGLK2 directly binds to AcMYB5 and AcTRY. We showed AcMYB5, an R2R3-MYB TF, promotes anthocyanin accumulation by interacting with the bHLH protein AcbHLH42, while AcTRY, an R3-MYB protein, competitively inhibits the interaction between key MYBs and AcbHLH42, thereby repressing anthocyanin biosynthesis. Transgenic and molecular assays in tobacco, tomato, and kiwifruit demonstrated that AcGLK2 positively participates into regulation of anthocyanin accumulation through transcriptionally activating <i>AcMYB5</i> expression and concomitantly suppressing <i>AcTRY</i> expression. This study reveals the dual regulatory mechanism of AcGLK2 in anthocyanin biosynthesis, broadening the understanding of GLK gene functions and providing a valuable genetic resource for molecular breeding of nutritional quality in kiwifruit and other crops.</p>","PeriodicalId":57479,"journal":{"name":"园艺研究(英文)","volume":"13 7","pages":"uhag105"},"PeriodicalIF":9.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13318421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148364059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An efficient gene editing system for Eustoma grandiflorum based on somatic embryogenesis. 基于体细胞胚胎发生的桔梗高效基因编辑系统。
IF 9.5
园艺研究(英文) Pub Date : 2026-06-10 eCollection Date: 2026-10-01 DOI: 10.1093/hr/uhag197
Chunlian Jin, Xingyu Zhou, Lingling Yuan, Fan Li, Jihua Wang
{"title":"An efficient gene editing system for <i>Eustoma grandiflorum</i> based on somatic embryogenesis.","authors":"Chunlian Jin, Xingyu Zhou, Lingling Yuan, Fan Li, Jihua Wang","doi":"10.1093/hr/uhag197","DOIUrl":"https://doi.org/10.1093/hr/uhag197","url":null,"abstract":"","PeriodicalId":57479,"journal":{"name":"园艺研究(英文)","volume":"13 10","pages":"uhag197"},"PeriodicalIF":9.5,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13630442/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149119303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Kinetics of stepwise peroxidation of rapeseed oil, flaxseed oil, high oleic peanut oil and high oleic sunflower oil under heating conditions 菜籽油、亚麻籽油、高油花生油和高油葵花籽油在加热条件下逐步过氧化动力学
Oil Crop Science Pub Date : 2026-06-01 Epub Date: 2026-05-18 DOI: 10.1016/j.ocsci.2026.05.003
Boqi Qian , Aijun Zhou , Dang Wang , Xin Lv , Hong Chen , Zisong Li , Qianchun Deng , Fang Wei
{"title":"Kinetics of stepwise peroxidation of rapeseed oil, flaxseed oil, high oleic peanut oil and high oleic sunflower oil under heating conditions","authors":"Boqi Qian ,&nbsp;Aijun Zhou ,&nbsp;Dang Wang ,&nbsp;Xin Lv ,&nbsp;Hong Chen ,&nbsp;Zisong Li ,&nbsp;Qianchun Deng ,&nbsp;Fang Wei","doi":"10.1016/j.ocsci.2026.05.003","DOIUrl":"10.1016/j.ocsci.2026.05.003","url":null,"abstract":"<div><div>This study investigates the oxidative stability of rapeseed, flaxseed, high oleic peanut, and high oleic sunflower oils during short-term thermal oxidation. By monitoring peroxide value (PV) and thiobarbituric acid reactive substances (TBARS) levels before and after purification and at 100 °C and 180 °C, the oxidative behavior and antioxidant capacity of each oil under high temperature conditions were evaluated. Additionally, the depletion patterns of tocopherols and sterols during thermal oxidation were analyzed. To elucidate oxidation mechanisms, the kinetics of lipid hydroperoxide (LOOH) concentration changes in the oils were examined. Results indicate that high oleic peanut oil exhibits superior oxidative stability, maintaining lower PV and TBARS levels throughout the heating cycle. Tocopherol and sterol depletion correlated positively with oxidation time and temperature, and the heat loss varied among different oils. Kinetic modeling revealed that oils with a more diverse fatty acid composition tend to undergo stepwise oxidation. High oleic peanut oil, flaxseed oil and high oleic sunflower oil displayed a single-step reaction, whereas rapeseed oil progressed through a two-step reaction before reaching a typical termination phase.</div></div>","PeriodicalId":34095,"journal":{"name":"Oil Crop Science","volume":"11 2","pages":"Pages 188-196"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148183317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel strategy to enhance precise targeting of the RNA base editor mxABE. 一种增强RNA碱基编辑器mxABE精确靶向的新策略。
遗传 Pub Date : 2026-06-01 DOI: 10.16288/j.yczz.25-303
Tan Liu, Hui-Jie Jiang, Xue-Lang Wang, Yao-Yao Yu, Fei Wang, Jia-Jia Lin, Hua-Qiang Yang
{"title":"A novel strategy to enhance precise targeting of the RNA base editor mxABE.","authors":"Tan Liu, Hui-Jie Jiang, Xue-Lang Wang, Yao-Yao Yu, Fei Wang, Jia-Jia Lin, Hua-Qiang Yang","doi":"10.16288/j.yczz.25-303","DOIUrl":"https://doi.org/10.16288/j.yczz.25-303","url":null,"abstract":"<p><p>Single nucleotide variations (SNVs) represent the most common form of pathogenic mutations in humans, while base editing technology offers an ideal solution for treating such pathogenic variants. RNA editing has become a hotspot in current gene therapy due to its reversible action, which avoids long-term risks by not permanently altering the genome, and the compact size of the editors. Among these, the mini-dCas13X.1-mediated RNA adenine base editing (mxABE) system demonstrates highly efficient RNA base editing; however, it still suffers from non-target nucleotide editing caused by the bystander editing effect, which constitutes a major off-target risk. In this study, by deleting the nucleotide opposite the non-target adenosine in the sgRNA sequence, we effectively reduced the bystander editing effect of the mxABE system. <i>In vitro</i> results showed that this strategy successfully controlled the bystander editing rate below 5% while maintaining highly efficient on-target editing of approximately 70%. In a murine model of DMD (Duchenne muscular dystrophy), a single administration of AAV (adeno-associated virus)-delivered mxABE system demonstrated significant therapeutic efficacy in the tibialis anterior muscle, with successful elimination of off-target adenosine bystander editing. This study provides a novel precision-targeting strategy for treating monogenic genetic diseases using the mxABE RNA editing system.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"48 6","pages":"628-637"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148273225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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