The ENCODE Revolution in Understanding the Human Genome

The results of a remarkable genetics project have been revealed this week. The Encyclopedia of DNA Elements (ENCODE) has found vastly more functionality in human DNA than had previously been revealed. The ENCODE project, contributed to by 100s of scientists worldwide, follows on from the Human Genome Project (HGP), which created an initial blueprint of the human genome. Excitingly for cognitive scientists it should provide important insights into brain functioning.

Although the HGP found 20000 functioning genes (which code for the proteins that are vital for biological functions) this only amounted to 1% of the total DNA. There were vast swathes of derisively termed ‘junk DNA’ that were thought non-functional. ENCODE has shown that much of this junk, or noncoding DNA, does play some functional role in building and maintaining a human body. The results have been published in 30 papers in Nature, Genome Research, and Genome Biology.

The data show that at least 80% of the human genome is linked to some functional role. The DNA that had previously thought noncoding is now thought to be involved in the regulation of gene expression. But in some ways this is just a beginning. The project has opened up a huge vista of opportunity for experiments such as working out how the DNA contributes to the thousands of different cell types or modelling human evolution in more detail.

ENCODE also raises the prospect of future medical applications by providing a new understanding of how the DNA is involved in the genetic contribution to diseases. For cognitive scientists there is thus the promise of many new advances in our knowledge of brain diseases and the possibility of developing cures for them. But ENCODE should also lead to plenty of general neuroscience insights that will unlock many of the secrets of how the human brain functions normally.

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