High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation

被引：419

作者：

Veyrieras, Jean-Baptiste ^{[1
]}

Kudaravalli, Sridhar ^{[1
]}

Kim, Su Yeon ^{[2
]}

Dermitzakis, Emmanouil T. ^{[3
]}

Gilad, Yoav ^{[1
]}

Stephens, Matthew ^{[1
,2
]}

Pritchard, Jonathan K. ^{[1
,4
]}

机构：

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

[2] Univ Chicago, Dept Stat, Chicago, IL 60637 USA

[3] Wellcome Trust Sanger Inst, Cambridge, England

[4] Howard Hughes Med Inst, Chevy Chase, MD USA

来源：

PLOS GENETICS | 2008年 / 4卷 / 10期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1371/journal.pgen.1000214

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recent studies of the HapMap lymphoblastoid cell lines have identified large numbers of quantitative trait loci for gene expression (eQTLs). Reanalyzing these data using a novel Bayesian hierarchical model, we were able to create a surprisingly high-resolution map of the typical locations of sites that affect mRNA levels in cis. Strikingly, we found a strong enrichment of eQTLs in the 250 bp just upstream of the transcription end site (TES), in addition to an enrichment around the transcription start site (TSS). Most eQTLs lie either within genes or close to genes; for example, we estimate that only 5% of eQTLs lie more than 20 kb upstream of the TSS. After controlling for position effects, SNPs in exons are, 2-fold more likely than SNPs in introns to be eQTLs. Our results suggest an important role for mRNA stability in determining steady-state mRNA levels, and highlight the potential of eQTL mapping as a high-resolution tool for studying the determinants of gene regulation.

引用

页数：15

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