Impact of regulatory variation from RNA to protein

被引：340

作者：

Battle, Alexis ^{[1
,2
]}

Khan, Zia ^{[3
]}

Wang, Sidney H. ^{[3
]}

Mitrano, Amy ^{[3
]}

Ford, Michael J. ^{[4
]}

Pritchard, Jonathan K. ^{[1
,2
,5
]}

Gilad, Yoav ^{[3
]}

机构：

[1] Stanford Univ, Dept Genet, Stanford, CA 94305 USA

[2] Stanford Univ, Howard Hughes Med Inst, Stanford, CA 94305 USA

[3] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[4] MS Bioworks LLC, Ann Arbor, MI 48108 USA

[5] Stanford Univ, Dept Biol, Stanford, CA 94305 USA

来源：

SCIENCE | 2015年 / 347卷 / 6222期

关键词：

GENE-EXPRESSION; YEAST; ABUNDANCE; IDENTIFICATION; TRANSCRIPTOME; HUMANS;

D O I：

10.1126/science.1260793

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The phenotypic consequences of expression quantitative trait loci (eQTLs) are presumably due to their effects on protein expression levels. Yet the impact of genetic variation, including eQTLs, on protein levels remains poorly understood. To address this, we mapped genetic variants that are associated with eQTLs, ribosome occupancy (rQTLs), or protein abundance (pQTLs). We found that most QTLs are associated with transcript expression levels, with consequent effects on ribosome and protein levels. However, eQTLs tend to have significantly reduced effect sizes on protein levels, which suggests that their potential impact on downstream phenotypes is often attenuated or buffered. Additionally, we identified a class of cis QTLs that affect protein abundance with little or no effect on messenger RNA or ribosome levels, which suggests that they may arise from differences in posttranslational regulation.

引用

页码：664 / 667

页数：4

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