The locations of millions of DNA 'switches' that dictate how, when, and where in the body different genes turn on and off have been identified by a research team led by the University of Washington in Seattle. Genes make up only 2 percent of the human genome and were easy to spot, but the on/off switches controlling those genes were encrypted within the remaining 98 percent of the genome.
Without these switches, called regulatory DNA, genes are inert. Researchers around the world have been focused on identifying regulatory DNA to understand how the genome works. Using a new technology developed with funding from the National Human Genome Research Institute's ENCODE (ENCyclopedia Of DNA Elements) project, UW researchers created the first detailed maps of where regulatory DNA is located within hundreds of different kinds of living cells. They also compiled a dictionary of the instructions written within regulatory DNA -- the genome's programming language.
The findings are reported in two papers appearing in the Sept. 5 online issue of Nature.
"These breakthrough studies provide the first extensive maps of the DNA switches that control human genes," said Dr. John A. Stamatoyannopoulos, associate professor of genome sciences and medicine at the University of Washington, and senior author on both papers. "This information is vital to understanding how the body makes different kinds of cells, and how normal gene circuitry gets rewired in disease. We are now able to read the living human genome at an unprecedented level of detail, and to begin to make sense of the complex instruction set that ultimately influences a wide range of human biology."
Here are the key results:
1) The first detailed maps of regulatory DNA switches that make up the genome's 'operating system'.
The instructions within regulatory DNA are inscribed in small DNA 'words' that function as the docking sites for special prot
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University of Washington