Junk DNA was a term coined 40 years ago to describe the part of the genome that does not contain any genes, the individual instructions for making the body’s vital proteins. Now, this vast genetic landscape could hold hidden clues to eradicating human disease, scientists said.
Hundreds of researchers from 32 institutes around the world collaborated on the immense effort to decipher the hidden messages within the 98 per cent of the human genome without any genes and was thought, therefore, to have no function.
They have concluded in a series of 30 research papers published simultaneously today, in Nature, Science and other journals, that this so-called junk DNA is in fact an elaborate patchwork of regulatory sequences that act as a huge operating system for controlling the gnome.
Knowledge gained from this important insight, which has been largely hidden from view ever since the structure of DNA was revealed nearly 60 years ago, will prove critical to the future treatment of more than 400 diseases, scientists said.
Ewen Birney of the European Molecular Biology Laboratory in Cambridge and one of the leaders of the international ENCODE consortium said the work has demonstrated conclusively that more than 80 per cent of the genome works as a kind of control panel packed with genetic dials.
Deciphering the human genome revealed that less than 2 per cent of the 3 billion building blocks of human DNA actually consists of working genes. The ENCODE consortium has shown that the rest of the genome still has an active, biochemical function in the cells of the body.
“We see that 80 per cent of the genome is actively doing something. We found that a much bigger part of the genome - a surprising amount in fact - is involved in controlling when and where proteins are produced,” he said.
Steve Connor, "Scientists debunk 'junk DNA' theory to reveal vast majority of human genes perform a vital function"