TAIPEI, TAIWAN, Oct.31, 2022 - The Nobel Prize in Physiology or Medicine has announced the winner of this year - Svante Pääbo, a Swedish scientist for his extraordinary work on tracking the genetic code of the extinct relatives, the Neanderthals. He also made the sensational discovery of a previously unknown hominin, Denisova. His work helped explore humanity's evolutionary history and how humans spread around the planet.
When scientists started decoding the human genome with genomics technologies, Pääbo was also fascinated with genetic methods to study the DNA of Neanderthals. However, he soon became aware of the extreme difficulty of finding DNA from the Neanderthals. After thousands of years, DNA becomes chemically modified and degrades into short fragments. Only a tiny bit of DNA is left, and what remains is massively contaminated with DNA from bacteria and contemporary humans. Pääbo started to develop methods to study the contaminated DNA from Neanderthals.
After a few years of research and experiments, Pääbo decided to analyze the mitochondria DNA from Neanderthal. The mitochondrial genome is small and contains only a fraction of the genetic information in the cell, but it is present in thousands of copies, increasing the chance of success. He finally sequenced a region of mitochondrial DNA from a 40,000-year-old piece of bone. At that moment, humans had access to a sequence from an extinct relative for the first time. Pääbo and his team continually improve the methods to analyze DNA from archaic bone remains. The research team developed a new method to make DNA sequencing highly efficient. In 2010, he accomplished and published the first Neanderthal genome. After DNA comparison with Neanderthals and modern-day humans from different parts of the world, they found that the Neanderthals' DNA was more similar to contemporary humans originating from Asia and Europe than it was to contemporary humans originating from Africa. In people of European or Asian descent, approximately 1% to 4% of the genome originates from the Neanderthals.
In 2008, Pääbo and his team sequenced a well-preserved finger bone that was discovered in the Denisova cave in Siberia. He was stunned by the result: the DNA was unique compared to all known sequences from Neanderalths and present-day humans. They had discovered a previously unknown hominin, which was given the name Denisovan. Comparisons with sequences from contemporary humans from different parts of the world showed that gene flow had also occurred between Denisovans and Homo sapiens. This relationship was first seen in populations in Melanesia and other parts of Southeast Asia, where individuals carry up to 6% of Denisovan DNA.
Pääbo accomplished groundbreaking research and defined a new field of science based on the reconstruction and analysis of genomic information on extinct species—paleogenomics. The scientific community extensively utilizes his research to understand the evolution and migration of the human genome better. Scientists are now able to realize that archaic gene sequences from our extinct relatives influence the physiology of present-day humans.
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