When the human genome was transcribed in 2003, it revealed 3 billion letters of DNA -- a huge book that was much like an ancient language yet to be translated.
The first general translation of the human genome is now complete.
The National Human Genome Research Institute, funded by the U.S. National Institutes of Health, has announced completion of a major series of studies to describe a major portion of the human genome and how it works. The results include a catalog of 50,000 genes and 4 million of previously unknown switches that serve as a foundation of how genes are turned on and off to control biological processes, including activation of disease.
"What it turned out to be is nothing short of breathtaking," said Eric Green, NHGRI director. "It's a functional landscape of the genome including protein coding genes" or genes that code proteins to control the flow of information throughout the body. Other regulatory sequences of DNA use transcription factors to switch genes on and off.
The Encyclopedia of DNA Elements, or ENCODE, involved nine years of research beginning in 2003 with a $40 million pilot project that the NIH funded, followed by the five-year ENCODE project that the NIH funded at a cost of $123 million.
The project, involving 442 researchers worldwide, has produced revelations about the genome that are expected to launch a swell of research on the complex interactions of genetic switches and genes and what happens when something goes wrong.
Before ENCODE, scientists had thought that only 1 to 2 percent of the genome controlled human biology, with another few percentage points being DNA shared with other species. The remaining 95 percent was thought to be junk DNA.
But during a teleconference today, ENCODE leaders including Dr. Green said the project reveals that 80 percent of the genome has some biological function with expectations that, in due time, the entire genome might be proven to serve some biological function.
A team of Penn State University researchers, led by Ross Hardison, a professor of biochemistry and molecular biology, played a key role in researching how the regulatory DNA switches on disease processes, with expectations that the new knowledge will help explain gene-based diseases including diabetes, Crohn's disease, cardiovascular disease and 17 cancers with hope that understanding these processes will lead to new treatment therapies.
"Our genetic studies have found scores to hundreds of places where individual variation in the DNA play a role in determining whether someone likely will get diabetes, cardiovascular disease, cancers, Crohn's disease -- a lot of the diseases that every family has someone affected by. These are common diseases. These genetic components determine a person's likelihood to get the diseases."
Mr. Hardison, 61, who holds a doctoral degree, said ENCODE is just the start. Researchers still are "a long way from final answers" but ENCODE provides a basis to find those answers.
"We don't know the full answer but we just made a tremendous advance," he said. "This should lead to exciting advances that lead us to better health care, and hopefully it will occur in my lifetime."
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