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在人类癌症中对mRNA与蛋白质表达的突变影响

Yuqi Liu¹, Abdulkadir Elmas¹, Kuan-Lin Huang¹

¹Center for Transformative Disease Modeling, Department of Genetics and Genomic Sciences, Tisch Cancer Institute, Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, NY 10029 USA.

bioRxiv : the preprint server for biology

|November 28, 2023

概括

癌症突变可以改变蛋白质表达,影响瘤的发展. 这项研究揭示了基因突变如何影响蛋白质水平,识别了功能性癌症基因和突变.

科学领域:

基因组学就是基因组学.
蛋白质组学是指蛋白质组学.
癌症生物学癌症生物学
分子瘤学分子瘤学

背景情况:

癌症突变通常被认为直接改变蛋白质功能.
突变对总体蛋白质表达水平的影响仍未得到充分研究.
了解这些影响对于识别驱动突变和治疗点至关重要.

研究的目的:

系统地研究癌症突变对mRNA和蛋白质表达水平的影响.
识别体表达量的特征位点 (seQTLs) 和体蛋白特定的QTLs (spsQTLs).
用实验数据验证突变对蛋白质丰度的功能影响.

主要方法:

分析了来自六种癌症类型的953例癌症病例的配对基因组学和全球蛋白质基因分析数据.
开发一个统计管道来识别spsQTLs.
发现的交叉验证与变异效应的大规模并行测试 (MAVE).

主要成果:

47.2%的seQTLs显示蛋白质水平的影响,包括长尾驱动基因突变.
鉴定了基因突变 (例如NF1,MAP2K4,TP53) 对蛋白质丰度产生不成比例的影响,超出了转录基因变化.
实验证实TP53误解突变对瘤TP53蛋白水平的功能影响.

结论:

蛋白水平表达分析对于验证癌症中的突变影响至关重要.
这种方法可以识别功能性基因和突变,这些基因和突变可能仅通过转录组分析就会错过.
该研究强调了整合多omics数据的重要性,以全面了解癌症突变.

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