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`Junk DNA' Isn't Junk; Purpose Seen in Genetic Silent Majority
By John Lauerman
June 13 (Bloomberg) -- The vast majority of human DNA, sometimes called ``junk'' because it isn't
directly involved in making cellular proteins, is important after all, scientists said.
By looking at just 1 percent of the human genome, researchers found that at least half of the junk
regions are biologically relevant. Those areas are storehouses of information that contain switches to
regulate the actions of genes, according to a study released today by the journal Nature.
The finding reflects a $42-million research effort, involving 80 organizations in 11 countries, and is the
first step in analyzing the 98 percent of the DNA that isn't responsible for encoding proteins, the building
blocks of life. The approach brings genetic research to a new level, said Francis Collins, the director of
the National Human Genome Research Institute in Bethesda, Maryland.
``I don't think it should be surprising that what we have discovered is complex,'' he said. Referring to
humans, he said: ``We are intended to be complicated and we obviously are.''
Now researchers are trying to make sense out of the billions of components in DNA, the chain molecule
that forms genes. The study group, called the Encyclopedia of DNA Elements consortium, or ENCODE,
analyzed 44 sequences comprising 300 million components.
The findings help explain studies that have associated diseases such as prostate and breast cancer with
areas that are devoid of genes, said Michael Snyder, a professor of molecular biophysics and
biochemistry at Yale University in New Haven, Connecticut.
Zooming In
``These areas were thought to be junk DNA, and now it is clear that some of them encode regulatory
information,'' Snyder, who helped lead the study, said today in a telephone conference with reporters.
``This will help us our ability to zoom in on the regions that allow us to understand human disease.''
While only a tiny portion of the genome can make protein, the study found that most of its sequences
make RNA, the molecule that helps translate genetic information from DNA into proteins.
Once considered DNA's poor cousin, RNA has become an increasingly intriguing molecule. Researchers
have found that RNA can also block protein from being made, a process called RNA interference.
The study expanded on the versatility of RNA, the researchers said. For example, each gene in the area
studied by the international group made an average of five different kinds of RNA, Snyder said. Some of
the RNA's are previously unknown promoters that increase the activity of other genetic sequences, he
said.
`Much Better Map'
``We have a much better map of all the RNA's and the information that is expressed from the genome,''
he said. ``When you start prodding under the hood, it is very complicated and it is a lot of fun to try to
figure this out.''
While about half of the sequences the researchers looked at were already well known, the other half
were ``gene deserts'' that have no known function.
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