Mabin Justin W, Vock Isaac W, Machyna Martin, Haque Nazmul, Thakran Poonam, Zhang Alexandra, Rai Ganesha, Leibler Isabelle Nathalie-Marie, Inglese James, Simon Matthew D, Hogg J Robert
Biochemistry and Biophysics Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06520, USA.
bioRxiv. 2025 Mar 14:2025.03.12.642874. doi: 10.1101/2025.03.12.642874.
Cellular RNA levels are a product of synthesis and degradation kinetics, which can differ among transcripts of the same gene. An important cause of isoform-specific decay is the nonsense-mediated mRNA decay (NMD) pathway, which degrades transcripts with premature termination codons (PTCs) and other features. Understanding NMD functions requires strategies to quantify isoform kinetics; however, current approaches remain limited. Methods like nucleotide-recoding RNA-seq (NR-seq) enable insights into RNA kinetics, but existing bioinformatic tools do not provide robust, isoform-specific degradation rate constant estimates. We extend the EZbakR-suite by implementing a strategy to infer isoform-level kinetics from short-read NR-seq data. This approach uncovers unexpected variability in NMD efficiency among transcripts with conserved PTC-containing exons and rapid decay of a subset of mRNAs lacking PTCs. Our findings highlight the effects of competition between NMD and other decay pathways, provide mechanistic insights into established NMD efficiency correlates, and identify transcript features promoting efficient decay.
细胞RNA水平是合成和降解动力学的产物,同一基因的转录本之间可能存在差异。异构体特异性衰变的一个重要原因是无义介导的mRNA衰变(NMD)途径,该途径降解带有提前终止密码子(PTC)和其他特征的转录本。了解NMD功能需要量化异构体动力学的策略;然而,目前的方法仍然有限。像核苷酸重编码RNA测序(NR-seq)这样的方法能够深入了解RNA动力学,但现有的生物信息学工具并不能提供可靠的、异构体特异性的降解速率常数估计。我们通过实施一种从短读长NR-seq数据推断异构体水平动力学的策略,扩展了EZbakR套件。这种方法揭示了具有保守含PTC外显子的转录本之间NMD效率的意外变异性,以及缺乏PTC的一部分mRNA的快速衰变。我们的研究结果突出了NMD与其他衰变途径之间竞争的影响,为既定的NMD效率相关性提供了机制性见解,并确定了促进有效衰变的转录本特征。