Pfizer Worldwide Research and Development, Cambridge, MA 02139, USA.
Drug Discov Today. 2019 Jun;24(6):1258-1267. doi: 10.1016/j.drudis.2019.03.030. Epub 2019 Apr 4.
Alternative splicing, hereafter referred to as AS, is an essential component of gene expression regulation that contributes to the diversity of proteomes. Recent developments in RNA sequencing (RNA-seq) technologies, combined with the advent of computational tools, have enabled transcriptome-wide studies of AS at an unprecedented scale and resolution. RNA mis-splicing can cause human disease, and to target alternative splicing has led to the development of novel therapeutics. Splice variants diversify the repertoire of biomarkers and functionally contribute to drug resistance. Our expanding knowledge of AS variation in human populations holds great promise for improving disease diagnoses and ultimately patient care in the era of sequencing and precision medicine.
选择性剪接，以下简称 AS，是基因表达调控的重要组成部分，有助于蛋白质组的多样性。RNA 测序 (RNA-seq) 技术的最新进展，结合计算工具的出现，使得能够以前所未有的规模和分辨率进行全转录组的 AS 研究。RNA 错剪接会导致人类疾病，而靶向选择性剪接导致了新型治疗药物的开发。剪接变体使生物标志物的种类多样化，并在药物抵抗方面发挥功能。我们对人类群体中 AS 变异的不断增加的了解，为在测序和精准医疗时代改善疾病诊断并最终改善患者护理带来了巨大的希望。
