The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

TLDR

Human genomes exhibit extensive genetic variation, yet the effects of this variation on gene expression regulation have only recently begun to be documented, and few tissues have been examined per variant. The study aims to examine how genetic expression varies among tissues within individuals. The GTEx Consortium collected 1,641 postmortem samples from 54 body sites across 175 individuals to assess tissue‑specific transcriptional variation. Quantitative genetic traits influencing gene expression were identified, and the study determined which of these traits display tissue‑specific expression patterns. Melé et al., Science, this issue p.

Abstract

Expression, genetic variation, and tissues Human genomes show extensive genetic variation across individuals, but we have only just started documenting the effects of this variation on the regulation of gene expression. Furthermore, only a few tissues have been examined per genetic variant. In order to examine how genetic expression varies among tissues within individuals, the Genotype-Tissue Expression (GTEx) Consortium collected 1641 postmortem samples covering 54 body sites from 175 individuals. They identified quantitative genetic traits that affect gene expression and determined which of these exhibit tissue-specific expression patterns. Melé et al. measured how transcription varies among tissues, and Rivas et al. looked at how truncated protein variants affect expression across tissues. Science , this issue p. 648 , p. 660 , p. 666 ; see also p. 640