Atlas Of Human Gene Activity
March 28, 2014

Scientists Create Detailed Map Of Human Genes

Lee Rannals for - Your Universe Online

Scientists have created the first detailed map of the way human genes work throughout major cells and tissues.

Researchers working on the FANTOM5 project created a map that shows how a network of switches built within our DNA controls where and when our genes turn off and on. The three-year project included more than 250 scientists in over 20 countries and regions.

"The FANTOM5 project is a tremendous achievement. To use the analogy of an aeroplane, we have made a leap in understanding the function of all of the parts. And we have gone well beyond that, to understanding how they are connected and control the structures that enable flight,” Professor David Hume, Director of The Roslin Institute at the University of Edinburgh and a lead researcher on the project, said in a statement.

All human cells contain a set of genetic instructions, but genes are turned on and off at different times in different cells. This process is controlled by switches, or promoters and enhancers, that are found within the genome. These switches are what help make a muscle cell different to a liver or skin cell.

Scientists in the FANTOM5 project studied the largest ever set of cell types and tissues from humans and mice in order to identify the location of these switches. They also mapped out where and when the switches were active in different cell types and how they interact with one another.

"The FANTOM5 project has identified new elements in the genome that are the targets of functional genetic variations in human populations, and also have obvious applications to other species,” Hume said.

In total, the researchers mapped the activity of 180,000 promoters and 44,000 enhancers across a wide range of human cell types and tissues.

"We now have the ability to narrow down the genes involved in particular diseases based on the tissue cell or organ in which they work," Winston Hide, associate professor of bioinformatics and computational biology at Harvard School of Public Health (HSPH) and one of the core authors of the main paper in the journal Nature, said in a statement. "This new atlas points us to the exact locations to look for the key genetic variants that might map to a disease."

The new map also gives scientists insight as to why humans are different from other animals, despite having many genes in common.

“Comparing the mouse and human atlases reveals extensive rewiring of gene switches that has occurred over time, helping us to understand more about how we have evolved,” added Dr Martin Taylor, from the MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh.