The ancient DNA explorer and first Neanderthal genome sequencer is awarded the Nobel Prize in medicine.

42

The ancient DNA explorer and first Neanderthal genome sequencer is awarded the Nobel Prize in medicine. A Swedish geneticist, Svante Pääbo, has been awarded the Nobel Prize in medicine for his groundbreaking work in using ancient DNA to reveal previously unknown details about human evolution.

After Pääbo sequenced the first Neanderthal genome and proved that Homo sapiens and Neanderthals interbred, the Nobel Committee announced on Monday that he had “accomplished something seemingly impossible.”

As early as 2010, Pääbo had already developed groundbreaking techniques for extracting, sequencing, and analyzing ancient DNA from Neanderthal bones. His contributions have allowed for the comparison of Neanderthal genomes with modern human genomic archives.

The committee noted that “Pääbo’s key breakthrough gave rise to an entirely new scientific discipline; paleogenomics.” His findings lay the groundwork for probing our human peculiarities by illuminating genetic characteristics that set modern humans apart from extinct hominins.

Most modern people share between one and four percent of their DNA with Neanderthals, according to research by Pääbo. This suggests that Neanderthals and Homo sapiens met and procreated before the extinction of the Neanderthals around 40,000 years ago.

In addition to his position as an Honorary Research Fellow at London’s Natural History Museum, he has held the position of director of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany since 1997.

After that, Pääbo extracted DNA from small fossil fragments discovered in a cave in Siberia, and the results were just as shocking.

What a stunning breakthrough

According to the genome he decoded, a previously unknown species of extinct human, dubbed Denisovans after the location of their cave, had existed. When Pääbo compared Denisovan DNA to present human genetic databases, he found that some tribes in Asia and Melanesia had acquired as much as 6% of their DNA from this mysterious ancient human.

His most significant contribution was likely the sequencing of the Neanderthal genome. It proved our ancestors mated with Neanderthals. For a long time, I included, that was contested. Stringer elaborated, “But he demonstrated that the vast majority of us carry old DNA (from Neanderthals and/or Denisovans).

These two ancient people left behind genetic evidence of their interactions that has modern medicinal applications. For instance, modern-day Tibetans share a common ancestor with the Denisovans and possess a variant of the EPAS1 gene that helps them thrive at high altitudes. The results of Pääbo’s study suggest that Neanderthal DNA may have a negligible effect on the development of Covid-19 infection.

Professor David Paterson of Oxford University and current president of the British Physiological Society called the finding “an important scientific discovery in evolutionary biology.”

High-altitude acclimatization, population movement and adaptation to new environments, and the day-to-day effects of genetic variants on health and disease are all topics that have benefited from our ability to assign a physiological function to highly conserved mitochondrial genes, as Paterson put it in a statement.

Sune Bergström, Pääbo’s father, was a scientist and one of three people to share the 1982 Nobel Prize in Medicine.

An early fervor

Pääbo noted, “having a first version of the Neanderthal genome satisfies a lifelong desire,” when he initially presented his discoveries.

According to an interview he gave in 2008, however, his early interest was in Egyptology, inspired by a trip to the country with his mother. And one of Pääbo’s earliest achievements was discreetly cloning and sequencing DNA from an Egyptian mummy while he was working on his doctorate in a completely another field at night.

Because DNA undergoes chemical changes and degradation over time, it took Pääbo decades to master the procedure of recovering ancient DNA from fossils. Only minute amounts remain, making them vulnerable to contamination by modern DNA from microbes and the people who touch the fossils.

His DNA-extraction techniques have also been used to study the remains of extinct animals including mammoths, cave bears, and giant sloths, providing new insights into their histories. His group is developing methods to harvest DNA from cave silt, which will allow researchers to study our ancient ancestors without ever having to unearth their bones.

Pääbo’s discovery of ancient DNA was as groundbreaking to archaeology as the introduction of radiocarbon dating, which won a Nobel Prize in 1960, according to Katerina Douka, an assistant professor of archaeological science at the University of Vienna who works with Pääbo.

In other words, he was the first person to do research in that area. It’s amazing how many secrets he uncovered regarding human evolution,” Douka remarked.