Detailed map of genome function


Fergus Walsh explains the latest findings

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Scientists have published the most detailed analysis to date of the human genome.

They've discovered a far larger chunk of our genetic code is biologically active than previously thought.

The researchers hope the findings will lead to a deeper understanding of numerous diseases, which could lead to better treatments.

More than 400 scientists in 32 laboratories in the UK, US, Spain, Singapore and Japan were involved.

Their findings are published in 30 connected open-access papers appearing in three journals, Nature, Genome Biology and Genome Research.

The Encyclopedia of DNA Elements (Encode) was launched in 2003 with the goal of identifying all the functional elements within the human genome.

A pilot project looking at 1% of the genome was published in 2007.

Now the Encode project has analysed all three billion pairs of genetic code that make up our DNA.

Start Quote

This will give researchers a whole new world to explore and ultimately, it's hoped, will lead to new treatments.”

End Quote Dr Ewan Birney Encode

They have found 80% of our genome is performing a specific function.

Up to now, most attention has been focused on protein-coding genes, which make up just 2% of the genome.

Junk DNA

Genes are small sections of DNA that contain instructions for which chemicals - proteins - they should produce.

The Encode team analysed the vast area of the genome sometimes called "junk DNA" because it seemed to have little function and was poorly understood.

Dr Ewan Birney, of the European Bioinformatics Institute in Cambridge, who led the analysis, told me: "The term junk DNA must now be junked.

"It's clear from this research that a far bigger part of the genome is biologically active than was previously thought."


The scientists also identified four million gene "switches". These are sections of DNA that control when genes are switched on or off in cells.

They said the switches were often a long way along the genome from the gene they controlled.

dna More of human DNA is active than was thought

Dr Birney said: "This will help in our understanding of human biology. Many of the switches we have identified are linked to changes in risk for conditions from heart disease to diabetes or mental illness. This will give researchers a whole new world to explore and ultimately, it's hoped, will lead to new treatments."

Scientists acknowledge that it is likely to be many years before patients see tangible benefits from the project.

But another of the Encode team, Dr Ian Dunham said the data could ultimately be of help in every area of disease research.

"Encode gives us a set of very valuable leads to follow to discover key mechanisms at play in health and disease. Those can be exploited to create entirely new medicines, or to repurpose existing treatments."

Wellcome Trust Sanger Institute director Prof Mike Stratton said the results were "remarkable" and would "stand as a foundation stone for human biology for many years".

He added: "The Encode project will change the way many researchers conduct their science and give those who seek to understand disease a much better grasp of where genetic variation can affect our genome for ill."

Fergus Walsh, Medical correspondent Article written by Fergus Walsh Fergus Walsh Medical correspondent

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  • rate this

    Comment number 27.

    I am sure they are doing this research for altruistic reasons.
    It turns out we are more like modern cars than modern cars are.

  • rate this

    Comment number 26.

    It's wonderful to see an aspect of God's great creative power in such minute detail.

  • rate this

    Comment number 25.

    Hands up all those who thought right from the beginning that 'junk' DNA wasn't just going to be just junk.
    From an information perspective this work has only uncovered the blindingly obvious, but it is still a huge & vital step in the progress towards a real genetic engineering science. Now all we have to do is work out what all of that extra DNA does.. 4 million switches - Another 10 years... :)

  • rate this

    Comment number 24.

    I always though the "Junk DNA" concept was wrong in that it was only spoken by idiot scientists who simply did not understand what they were looking at. Now that 80% has indeed been seen to have some active use then yes this term is long obsolete. I can only say good luck in working out what the other 20% does.

  • rate this

    Comment number 23.

    Thank God we've got rid of the obvious nonsense of junk DNA.

  • rate this

    Comment number 22.

    14. helo thar

    Unfortunately the same road that leads to in-utero treatment of genetic diseases genes is also the road to Eugenics. Do we really want another "Master Race"?

    17. Diego Not on this planet! How does "Intelligent Design" explain Politicians?

  • rate this

    Comment number 21.

    The 'switch' aspect to genetics & its influence on disease is fascinating. With more knowledge in this area could it really be possible to prevent diseases such as certain types of cancer, or perhaps auto-immune diseases like diabetes, arthritis, ulcerative collitis or MS from ever developing?

  • rate this

    Comment number 20.

    17. Diego

    More compelling evidence for intelligent design!
    The body ages and breaks very easily, nothing intelligent about that design.

  • rate this

    Comment number 19.

    17. Diego

    More compelling evidence for intelligent design!"

    No. See, saying "more" would suggest there was any to begin with, outside of rhetoric and badly scribbled out creationism.

    If you use real testable, falsifiable evidence, you find that creationism/intelligent design fall flat on their faces.

  • rate this

    Comment number 18.

    The idea of junking the term 'junk DNA' seems premature - I wager they have not identified definite functions for all the DNA, even if there is less junk DNA than thought, the term still stands until functions are demonstrated. For example, the existence of dead genes is well-established, other than a role in evolutionary potential these seem to have no function. Some DNA may be structural.

  • rate this

    Comment number 17.

    More compelling evidence for intelligent design!

  • Comment number 16.

    All this user's posts have been removed.Why?

  • rate this

    Comment number 15.

    I wonder when there will be any meaningful treatments for real human conditions from the billions spent on this subject. There seems to be plenty of scientists claiming new "Breakthroughs" in genetic research, but there has been precious little in the form of treatment. It's not enough to keep scientists employed, there needs to be more progress on treating disease. Less hyperbole please.

  • rate this

    Comment number 14.

    I would also hope to see soon genetic manipulation of babies before they are born, thus wiping out hereditary diseases.

    No doubt the god-squad will find a reason to complain about that though.

  • rate this

    Comment number 13.

    Not long ago biologists believed that this bulk of non-coding DNA was mainly comprised of evolutionary freeloaders - hopping on the ride whilst the coding DNA conferred the advantages organisms needed to survive. This research has made us realise that these 'freeloaders' are, in many cases, doing a very valuable job.

    A fantastic achievement and money well spent.

  • rate this

    Comment number 12.

    Cures...? No we will continue to see a set of component 'holding drugs' that 'maintain' a person's condition (indefinitely) while generating ongoing revenues in the Billions for pharmas.... as usual.

  • rate this

    Comment number 11.

    Absolutely fascinating subject and brilliant work. It is a pity, though, that we can’t give similar attention to the eradication of poverty which leads to so many deaths in the world..

  • rate this

    Comment number 10.

    I wonder if they have uncovered the "Vote Labour" gene? That is surely a deleterious mutation.

  • rate this

    Comment number 9.

    This is probably the most interesting story I've read all week but I can't actually think of an interesting comment to make about it.

  • rate this

    Comment number 8.

    I've always suspect that "junk" DNA is a morass of evolved logic code, "IF this, THEN that, UNLESS the other". This would express in the phenotype in deeply hard to predict ways, even once the genome and proteome are fully decoded. Interesting stuff indeed!!!


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