The genetic “control panel” of the human body that regulates the activity of our 23,000 genes has been revealed for the first time in a scientific tour de force that could revolutionise the understanding and treatment of hundreds of diseases.
Scientists have once and for all swept away any notion of “junk DNA” by showing that that the vast majority of the human genome does after all have a vital function by regulating the genes that build and maintain the body.
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 genome.
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.
“Our genome is simply alive with switches: millions of places that determine whether a gene is switched on or off,” Dr Birney said.