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July 5, 2007

Consortium completes major study of human genome

UW scientists and other members of an international consortium have completed a multiyear research effort that dramatically boosts understanding of how the human genome functions. While previous studies of the human genome have focused mainly on genes, this study provides insight into the non-gene sequences making up the vast majority of the genome. Buried in non-gene sequences are regulatory elements that contain instructions for switching genes on or off, and for controlling how DNA is packaged and replicated within a human cell. Scientists believe these DNA sequences may play a very important role in some diseases, such as prostate or colon cancer.

The UW was a leading institution among dozens that participated in the Encyclopedia of DNA Elements (ENCODE) consortium, supported by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health. The consortium’s initial results were published June 14 in the journal Nature, and in companion articles in the June issue of the journal Genome Research. John Stamatoyannopoulos, UW assistant professor of genome sciences, who served as co-chair of the ENCODE Chromatin and Replication Analysis Group, led the UW ENCODE team, and was a senior author on the Nature article.

Launched in September 2003, the consortium began a four-year pilot project to identify the function of all DNA sequences in a small section of the human genome. Though the pilot study only examined about 1 percent of the genome, scientists hope the work will build our understanding of the 98 percent of the genome that is made up of non-gene sections of DNA. The consortium also set out to create methods for easily building up the ENCODE project to encompass the entire human genome.

The UW is one of eight major data-producing centers in the consortium, along with Yale University, Stanford University, Affymetrix Inc., the University of Virginia, the University of California San Diego, the Wellcome Trust Sanger Centre in Cambridge, UK; and the NHGRI. UW researchers also led a computational analysis project that integrated data from multiple consortium members, uncovering how different aspects of genome function relate to one another.

The project provided deep insights into how functional information is organized in the human genome, Stamatoyannopoulos said, and helped boost scientists’ understanding of how the packaging and replication of DNA, the production of RNA, and the evolution of DNA sequences all fit together.

The UW ENCODE team included members from the laboratories of John Stamatoyannopoulos, William Noble, and Maynard Olson in the Department of Genome Sciences, and the laboratories of George Stamatoyannopoulos and Patrick Navas in the Division of Medical Genetics of the Department of Medicine.