‘Dark genome’ could yield answers to complex genetic diseases – Genetic Literacy Project

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 leftoversHowever, hidden among this noncoding DNA are many crucial regulatory elements that control the activity of thousands of genes.

[In an] effort to fully map and annotatethe human genome, including this silent majority, the National Institutes of Health (NIH)announced new grant funding for a nationwide project to set up five characterization centersto study how these regulatory elements influence gene expression andcell behavior.

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.

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 its not a gene thats changed, but what regulates it.

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'Dark genome' could yield answers to complex genetic diseases - Genetic Literacy Project