New Study Drops Theory of ‘Junk DNA’ in Genome

One of the biggest mysteries in genetics has been solved after scientists revealed the secrets of “junk DNA”.

A massive research conducted by the international team of scientists has effectively overturned the concept of ‘junk’ DNA and paved the way for a medical revolution. Photo: Tim Wilson/Flickr

The findings, published in 30 research papers, demonstrate that around 80pc of the genetic code is actively involved in keeping life going, writes The Belfast Telegraph.

The scientists believe that in future the results of the research will lead to a better understanding various diseases and help to devise more effective diagnostic tools and treatments.

A number of “switches” have already been linked to 100 diseases such as childhood diabetes and schizophrenia.

The remainder of the genome, located far away from genes, was initially believed to have no important role and was dismissively named “junk DNA”.

“Disease-associated genetic changes are concentrated in the switches,” John Stamatoyannopoulos explained.

He went on, adding that the discovery “will change how we understand the genetic basis for disease and open up new avenues for therapy.”

For example, in 17 very different cancers “just 20 regulatory factors turn up over and over,” he said. “That suggests that drugs targeting only those, and not the hundreds of targets drug companies are now pursuing, might treat many cancers.”

With the new genome project, said Stamatoyannopoulos, “we’re exposing previously hidden connections between diseases.”

“Only one to two per cent of our genome contains genes, the parts of our DNA bearing instructions for the creation of proteins from which cells are made,” cites The Telegraph scientists.

In the project, named Encode, experts from 32 institutions throughout the world, including Britain, found that 80 per cent of the “junk” region helps dictate how and where proteins are produced.

Only twenty years ago scientists suggested that junk DNA might play a useful regulatory role. Now they know that almost every fragment of DNA has its own purpose.

“We understood the meaning of only a small percentage of the genome’s letters,” said Dr. Eric Green, director of the National Human Genome Research Institute, which paid for the bulk of the study.

The ENCODE scientists are biology’s version of the Occupy movement, said Mark Gerstein of Yale University in New Haven, Conn.: “For years everyone focused on the 1 percent. ENCODE looks at the 99 percent.”

Speaking at the Science Museum in central London, Dr Ewan Birney, chief analysis co-ordinator on the Encyclopedia of DNA Elements project, said:

“This idea of junk DNA – we always knew must be something more than protein coding genes, things that switch them on and off. But I really was not expecting this number and density of switches. It feels like a jungle out there. It is not a neat orderly place. It is absolutely full of life.”

He continued: “We’re going to find out ways of helping us understand disease, avoid disease, prevent disease and perhaps cure disease in different ways from this, but I’m not going to be able to put my finger on this disease or that disease right now.”

“It’s clinical researchers and doctors who are going to be the people who I think will benefit from this. I’m a kind of servant to that community of researchers.”

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