Detailed map of genome function

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.

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, said: “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.” Edited from Detailed map of genome function.

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