Genomic Variation. Impact of Regulatory Variation from RNA to Protein

Overview

Journal Science

Specialty Science

Date 2015 Feb 7

PMID 25657249

Citations 248

Authors

Alexis Battle

Zia Khan

Sidney H Wang

Amy Mitrano

Michael J Ford

Jonathan K Pritchard

Yoav Gilad

Affiliations

Soon will be listed here.

Abstract

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.

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