Detailed map of genome function


Fergus Walsh explains the latest findings

Related Stories

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 Article written by Fergus Walsh Fergus Walsh Medical correspondent

Paralysed man who walked again visits the UK

The world's first paralysed patient to walk again after a pioneering transplant using cells from his nose, is in Britain. Darek Fidyka is here to help raise funds to continue the pioneering research.

Read full article

More on This Story

Related Stories


This entry is now closed for comments

Jump to comments pagination
  • rate this

    Comment number 67.

    #56 Steven
    "Business men only look research in terms of how to make money. That is the extent of our civilization."

    I suspect its the end of our civilization..

  • rate this

    Comment number 66.

    The example of the heart gene and its regulator being 'far apart' seems naive given that a chain of DNA must be highly folded to fit into the nucleus and folding quite possibly will bring remote regions (in the sequence) close together,

  • rate this

    Comment number 65.

    I bet in 10 years they will figure out that much of the "coding DNA" that was once referred to as "junk" will turn out to be "Dynamic Linked Libraries" or bits of DNA that change according to environmental, psychological or chemical factors giving rise to a whole new branch of biology called "Buggeritomics"

  • rate this

    Comment number 64.

    sooner or later this is going to be abused

  • rate this

    Comment number 63.

    All well and good until patents on genes come to the mad as that seems...A peace deal was brokered some time much longer can it hold out..?

    That will restrict access and research...

  • rate this

    Comment number 62.

    Well done to all the scientists. Whilst you have pushed civilisations knowledge forward the worlds politicians have continued to increase it's decline.

  • rate this

    Comment number 61.

    What you are looking at here is the genome of god. That is to say it is not that which is created by god but that which belongs to god because mankind are the gods of the universe. Each and every one of us are a god born of gaia and until we find neighbours in the vast expanse of the universe we will remain the one and only true gods. Behold yourself for you are the almighty!

  • rate this

    Comment number 60.

    I'm surprised the Yank scientists haven't tryed to Copyright the parts they've found, it's all they seem interested in. As for the God Squad, don't wait for the 'Afterlife' to get one, try getting a life NOW.

  • rate this

    Comment number 59.

    @36 - Why couldn't they work out the function of 4m switches? You're assuming each switch was studied individually and consecutively. Scientists run multiple experiments at once and collect data automatically, and computers can do analysis quickly, so it's not really that surprising. If you are really curious read the methodology part of the papers. There is a link to them above and they're free.

  • rate this

    Comment number 58.

    40. Simon Atwood
    "That is assuming genetics are fixed after birth but that is not the case. Or that genetics alone are responsible for hereditary diseases which is also not the case."
    Wrong on both counts. Genetics are fixed at conception ignoring genetic vectors such as viruses or random mutation, regions may be switched on or off variably but the genetic material stays constant. Cant say more..

  • rate this

    Comment number 57.

    Predictably, and regrettably, this brings out the Creationists and Intelligent Design fans. So, do explain for us:

    Eating and breathing through the same hole, which leaves us vulnerable to choking

    The laryngeal nerve of the giraffe, that goes all the way down its neck and back again, to connect the short distance between brain and larynx.

    What clearer evidence of evolution would you like?

  • rate this

    Comment number 56.

    Civilization rests on 1% of the world population’s discoveries and inventions. Without them we’d still be in caves. This 1% does not rule the globe and IQ tests do not measure emotional intelligence. Give a chimpanzee a computer and it will corner the market on bananas. Business men only look research in terms of how to make money. That is the extent of our civilization.

  • rate this

    Comment number 55.

    So Nothingdidit did it?

  • rate this

    Comment number 54.

    48 Yemi

    'This had no creator ... it evolved by itself. Strange.'

    No creator, but an unimaginable amount of time. Not so strange.

  • rate this

    Comment number 53.

    Are we still looking for never ending life, if so the sooner we colonise Mars the better, we will need the room.

  • rate this

    Comment number 52.

    We should not be bickering with each other on beliefs or views, but rejoicing at what scientists have accomplished within the past century and how this can benefit many to come in the future.

  • rate this

    Comment number 51.

    36. disgustedofuk

    It only says they identified switches, not what they all actually do. They probably would have done this by finding a pattern and then screening the whole genome for the switch-pattern

  • rate this

    Comment number 50.

    I am so looking forward to what the 'bible bashers' have to say about this one!

  • rate this

    Comment number 49.

    Is Fergus giving us a sneak preview of the new dalek in Dr Who.

  • rate this

    Comment number 48.

    The DNA gene code has a parallel comparison to software code, only that software code has a creator, but this intricately complex DNA gene code as no creator , it evolved by itself. Strange


Page 12 of 15



Copyright © 2015 BBC. The BBC is not responsible for the content of external sites. Read more.

This page is best viewed in an up-to-date web browser with style sheets (CSS) enabled. While you will be able to view the content of this page in your current browser, you will not be able to get the full visual experience. Please consider upgrading your browser software or enabling style sheets (CSS) if you are able to do so.