An international team of scientists have identified a major ‘control panel’ within the human genome which regulates the activity of genes.
What has previously been called ‘junk DNA’ actually contains millions of ‘switches’, without which genes would not work.
The research also suggests that mutations in these regions might lead to disease.
As part of the ENCODE (Encyclopedia of DNA Elements) project launched in 2003, over 400 scientists in the UK, US, Spain Singapore and Japan have published a detailed map of genome function, which they hope will lead to a better understanding of various diseases, and the development of effective treatments.
Their findings are published in 30 connected open-access papers appearing in Nature, Genome Biology and Genome Research journals.
Associate director for the European Bioinformatics Institute in the UK and lead analysis coordinator for ENCODE Ewan Birney said; "Our genome is simply alive with switches: millions of places that determine whether a gene is switched on or off."
"With ENCODE, we can see that around 80% 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, than in simply manufacturing the building blocks."
The study used around 300 years of computer time studying 147 tissue types to determine what turns specific genes on and off, and how that ‘switch’ differs between cell types.
Professor at Stanford University in the US and principal investigator on the study Dr Michael Snyder said; "We are beginning to understand the information generated in genome-wide association studies – not just where certain genes are located, but which sequences control them."
"Were it not for ENCODE, we might never have looked in those regions. This is a major step toward understanding the wiring diagram of a human being."
Image: What has previously been called ‘junk DNA’ actually contains millions of ‘switches’, without which genes would not work. Photo: Courtesy of FreeDigitalPhotos.net.