Longman Dasa, Monaghan Laura, Cáceres Javier F
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Crewe Road South, Edinburgh EH4 2XU, UK.
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Crewe Road South, Edinburgh EH4 2XU, UK.
Cell Genom. 2025 Jul 9;5(7):100948. doi: 10.1016/j.xgen.2025.100948.
Nonsense-mediated mRNA decay efficiency varies unpredictably across transcripts containing premature termination codons. A new study by Kolakada et al. demonstrates that glycine residues preceding stop codons create an extended translation termination window that enhances NMD activity, offering new mechanistic explanations for NMD variability and improved clinical variant interpretation.
无义介导的mRNA降解效率在含有提前终止密码子的转录本中变化不可预测。Kolakada等人的一项新研究表明，终止密码子之前的甘氨酸残基会产生一个延长的翻译终止窗口，从而增强无义介导的mRNA降解（NMD）活性，为NMD变异性和改进临床变异解读提供了新的机制解释。
