Regulatory DNA opens a window through time

Very little remains of the Neanderthals, evolutionary cousins of humans who lived from 500,000 to 40,000 years ago, but Neanderthal DNA extracted from fossilized specimens is making it easier to learn more about our extinct hominid relatives.

Scientists at UC San Francisco and Stanford University have identified how regulatory DNA—the DNA that controls which genes are turned on and off—varies between Neanderthals and humans, shedding light on how the two species diverged half a million years ago.

“It’s like we’re resurrecting fossils and making them come alive, one DNA sequence at a time,” Nadav Ahituv, PhD, a co-senior author on the study, told UCSF News. Ahituv is a faculty member in the Department of Bioengineering and Therapeutic Sciences, a joint department of the UCSF Schools of Pharmacy and Medicine.

The findings, published in eLife on April 22, included the identification of 407 gene regulatory sequences that differed between humans and Neanderthals. Some of these bits of DNA are known to be important for the development of soft tissues like the brain or vocal cords, which did not make it into the fossil record.

The researchers next plan to study how Neanderthal regulatory sequences change the development of human cells in the lab, with the hope of better understanding what makes us uniquely human.

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Ancient DNA Sequences Reveal How Modern Humans Diverged from Neanderthals (UCSF News)