This news release is available in Japanese.
A new study presents the first analysis of the pilot dataset from the Genotype-Tissue Expression (GTEx) project, which investigates how our underlying DNA regulates gene expression. All the cells in a person's body have the same genes. The difference between cells in different tissues is that the gene expression -- when the message from the DNA is copied and made into a protein -- varies between representative cells. For example, liver cells have different proteins than skin cells, even though their DNA is the same. Scientists still don't completely comprehend how genetic expression varies among tissues within individuals, but they do suspect that the majority of genetic variation doesn't code for proteins, mutated or otherwise; instead, genetic variation exerts its effects by regulating how much, if at all, individual genes are expressed. To better understand the genetic regulatory networks for our genes and the tissues in which they act, more than 130 researchers in the GTEx Consortium collected 1,641 post-mortem samples covering 43 body sites from 175 individuals. The researchers looked at patterns of gene expression across almost 54,000 transcribed genes. This allowed them to identify distinct regions in the genome that affect gene expression and to determine which of these exhibit tissue-specific expression patterns. In the first of two companion papers, Marta Melé et al. describe the distribution of gene expression across tissues, showing that a few genes that vary from tissue to tissue typically dominate tissue-specific gene expression. Manuel Rivas et al. explain how truncated protein variants affects expression across tissues. Understanding the genetic regulatory networks for our genes could help scientists better understand how genetic variation predisposes people to disease. The GTEx Consortium's work represents a resource for future studies investigating the genetic control of gene expression in different tissues. A Perspective provides additional insights.
Article #8: "The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans," by The GTEx Consortium.