The mysterious majority – as much as 98 percent – of our DNA do not code for proteins. Much of this “dark matter genome” is thought to be nonfunctional evolutionary leftovers…However, hidden among this noncoding DNA are many crucial regulatory elements that control the activity of thousands of genes.
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By cataloging the functions of thousands of regulatory sequences, [researchers] hope to develop rules about how to predict and interpret other sequences’ functions. This would not only help illuminate the rest of the dark matter genome, it could also reveal new treatment targets for complex genetic diseases.
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“A lot of human diseases have been found to be associated with regulatory sequences,” said [Nadav Ahituv, a professor of bioengineering at UC San Francisco]. “For example, in genome-wide association studies for common diseases, such as diabetes, cancer and autism, 90 percent of the disease-associated DNA variants are in the noncoding DNA. So it’s not a gene that’s changed, but what regulates it.”
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