Scientists at the University of Washington and other members of an international consortium have completed the 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 so-called "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 are being published in the June 14 issue of the journal Nature, and in companion articles in the June issue of the journal Genome Research.
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.