Scientists debunk 'junk DNA' theory to reveal vast majority of human genes perform a vital function

 

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.

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.

Defects in this part of the genome could be responsible for a range of illnesses, from diabetes and Crohn’s disease to disorders of the immune system, such as lupus. Knowing about them could lead to a fundamental reappraisal of what goes wrong in scores of difficult conditons, said John Stamatoyannopoulous of Washington University in Seattle, another leader of the consortium.

“Genes occupy only a tiny fraction of the genome, and most efforts to map the genetic causes of disease were frustrated by signals that pointed away from genes,” Professor Stamatoyannopoulos said.

“Now we know that these efforts were not in vain, and that the signals were in fact hidden in millions of locations around the genome. The findings provide a new lens through which to view the role of genetics and genome function in disease,” he said.

Many of the genetic switches occur at sites on the long DNA molecule that are well away from the genes they control, which has hampered past attempts at identifying them. The new work exposes these hidden connections and lays bear the inner workings of the body’s genetic control panel, the scientists said.

“This is a major step toward understanding the wiring diagram of a human being [and] helps us to look deeply into the regulatory circuit that tells us how all the parts come together to make a complex being,” said Professor Michael Snyder of Stanford University in California and a principal investigator on the ENCODE project.”

Start your day with The Independent, sign up for daily news emails
ebooks
ebooksAn introduction to the ground rules of British democracy
Latest stories from i100
Have you tried new the Independent Digital Edition apps?
Independent Dating
and  

By clicking 'Search' you
are agreeing to our
Terms of Use.

iJobs Job Widget
iJobs General

Recruitment Genius: Home Care / Support Workers

£7 - £10 per hour: Recruitment Genius: This care provider is looking for Home ...

Recruitment Genius: Web Team Leader

£30000 - £35000 per annum: Recruitment Genius: One of the UK's leading web des...

Recruitment Genius: Client Manager

£27000 - £35000 per annum: Recruitment Genius: A growing, successful, friendly...

Recruitment Genius: Property Negotiator - OTE £20,000+

£16000 - £25000 per annum: Recruitment Genius: This family owned, independent ...

Day In a Page

Greece says 'No': A night of huge celebrations in Athens as voters decisively back Tsipras and his anti-austerity stance in historic referendum

Greece referendum

Greeks say 'No' to austerity and plunge Europe into crisis
Ten years after the 7/7 terror attacks, is Britain an altered state?

7/7 bombings anniversary

Ten years after the terror attacks, is Britain an altered state?
Beautiful evening dresses are some of the loveliest Donatella has created

Versace haute couture review

Beautiful evening dresses are some of the loveliest Donatella has ever created
No hope and no jobs, so Gaza's young risk their lives, climb the fence and run for it

No hope and no jobs in Gaza

So the young risk their lives and run for it
Fashion apps: Retailers roll together shopping and social networking for mobile customers

Fashion apps

Retailers roll together shopping and social networking for mobile customers
The Greek referendum exposes a gaping hole at the heart of the European Union – its distinct lack of any genuine popular legitimacy

Gaping hole at the heart of the European Union

Treatment of Greece has shown up a lack of genuine legitimacy
Number of young homeless in Britain 'more than three times the official figures'

'Everything changed when I went to the hostel'

Number of young homeless people in Britain is 'more than three times the official figures'
Compton Cricket Club

Compton Cricket Club

Portraits of LA cricketers from notorious suburb to be displayed in London
London now the global money-laundering centre for the drug trade, says crime expert

Wlecome to London, drug money-laundering centre for the world

'Mexico is its heart and London is its head'
The Buddhist temple minutes from Centre Court that helps a winner keep on winning

The Buddhist temple minutes from Centre Court

It helps a winner keep on winning
Is this the future of flying: battery-powered planes made of plastic, and without flight decks?

Is this the future of flying?

Battery-powered planes made of plastic, and without flight decks
Isis are barbarians – but the Caliphate is a dream at the heart of all Muslim traditions

Isis are barbarians

but the Caliphate is an ancient Muslim ideal
The Brink's-Mat curse strikes again: three tons of stolen gold that brought only grief

Curse of Brink's Mat strikes again

Death of John 'Goldfinger' Palmer the latest killing related to 1983 heist
Greece debt crisis: 'The ministers talk to us about miracles' – why Greeks are cynical ahead of the bailout referendum

'The ministers talk to us about miracles'

Why Greeks are cynical ahead of the bailout referendum
Call of the wild: How science is learning to decode the way animals communicate

Call of the wild

How science is learning to decode the way animals communicate