赣南医科大学学报2025，Vol.45Issue(8)：739-749,11.DOI:10.3969/j.issn.1001-5779.2025.08.003
高通量测序技术在肿瘤的RNA可变剪接和选择性多聚腺苷酸化研究中的应用
Application and progress of high-throughput sequencing technology in the study of RNA alternative splicing and alternative polyadenylation in tumors
摘要
Abstract
Alternative splicing(AS)and alternative polyadenylation(APA)constitute pivotal post-transcriptional regulatory mechanisms in eukaryotes.By generating diverse mRNA isoforms,they substantially enhance the complexity of gene expression and proteomic diversity,playing critical roles in cellular physiological and pathological processes particularly exerting profound impacts on tumor initiation and progression.The advent of high-throughput sequencing technologies has empowered large-scale investigations of AS and APA events.Due to its limitations in read length,conventional second-generation sequencing(NGS)is difficult to accurately analyze complex and variable splicing patterns and APA sites.The third-generation sequencing technology has the characteristics of long read length and can effectively solve this problem.This review synthesizes advances in applying NGS and long-read sequencing(LRS)to characterize tumor-associated RNA alternative splicing and alternative polyadenylation events.Literature analysis demonstrates the significant potential of long-read sequencing in oncology research.Compared to NGS,LRS enables more accurate identification of complex alternative splicing patterns,precise mapping of splice sites and APA sites,and resolution of complete transcript isoform structures,facilitating the discovery of novel tumor-specific splicing variants and APA events.Long-read sequencing technology paves new path for comprehensively mapping AS/APA landscapes in tumors and elucidating their mechanistic roles in tumorigenesis.Future applications hold promise for discovering novel tumor diagnostic biomarkers,prognostic indicators,and developing precision therapeutic strategies targeting RNA splicing regulation.关键词
长读长测序/可变剪接/选择性多聚腺苷酸化/肿瘤Key words
Long-read sequencing/Alternative splicing/Alternative polyadenylation/Tumor分类
医药卫生引用本文复制引用
万宇欣,曹小鹏,刘煊,徐景祥..高通量测序技术在肿瘤的RNA可变剪接和选择性多聚腺苷酸化研究中的应用[J].赣南医科大学学报,2025,45(8):739-749,11.基金项目
赣南医科大学本科生科技创新项目(BKSZR26) （BKSZR26）
