Stockholm, Sweden · 3 October 2022 — The Nobel Assembly at Karolinska Institutet announced that the 2022 Nobel Prize in Physiology or Medicine has been awarded to Svante Pääbo "for his discoveries concerning the genomes of extinct hominins and human evolution." The decision recognised a body of work that achieved what was long considered impossible: sequencing the genome of an extinct human relative from ancient, degraded DNA.
Pääbo's research gave rise to an entirely new scientific discipline — paleogenomics — and revealed that gene transfer occurred from extinct hominins to Homo sapiens following the migration out of Africa roughly 70,000 years ago. This ancient gene flow has physiological relevance today, influencing how our immune system responds to infections.
Sequencing the Impossible
Early in his career, Pääbo became fascinated by the possibility of using modern genetic methods to study Neanderthal DNA. The technical challenges were extreme: after thousands of years, DNA degrades into short fragments, and what remains is massively contaminated with DNA from bacteria and contemporary humans.
As a postdoctoral student with evolutionary biologist Allan Wilson, Pääbo began developing methods to study DNA from archaic specimens — an endeavour that would span several decades. In 1990, as a newly appointed professor at the University of Munich, he successfully sequenced a region of mitochondrial DNA from a 40,000-year-old piece of bone. This was the first time anyone had accessed a DNA sequence from an extinct human relative.
The Neanderthal Nuclear Genome
Mitochondrial DNA provides only limited information. Pääbo then took on the far greater challenge of sequencing the complete Neanderthal nuclear genome at the Max Planck Institute in Leipzig, which he founded in 1999. His team steadily improved methods to isolate and analyse DNA from archaic bone remains, exploiting new sequencing technologies and engaging collaborators with expertise in population genetics.
In 2010, Pääbo published the first Neanderthal genome sequence. Comparative analyses demonstrated that the most recent common ancestor of Neanderthals and Homo sapiens lived around 800,000 years ago. The data showed that Neanderthals and modern humans interbred during their millennia of coexistence in Eurasia.
A Sensational Discovery: Denisova
In 2008, a 40,000-year-old finger bone fragment was discovered in the Denisova Cave in southern Siberia. The bone contained exceptionally well-preserved DNA, which Pääbo's team sequenced. The result was sensational: the DNA sequence was unique compared to all known sequences from Neanderthals and present-day humans. Pääbo had discovered a previously unknown hominin, named Denisova.
Comparisons with sequences from contemporary humans showed that gene flow had also occurred between Denisovans and Homo sapiens, first observed in populations in Melanesia and other parts of Southeast Asia.
Relevance to Modern Physiology
Archaic gene sequences from extinct relatives continue to influence the physiology of present-day humans. The Denisovan version of the gene EPAS1 confers an advantage for survival at high altitude and is common among present-day Tibetans. Neanderthal genes have been shown to affect immune responses to different types of infections.
A New Discipline
Through his groundbreaking research, Pääbo established paleogenomics as a field. His group has completed analyses of several additional genome sequences from extinct hominins, creating a resource used extensively by the scientific community to understand human evolution and migration. New methods suggest that archaic hominins may also have mixed with Homo sapiens in Africa, though no genomes from extinct African hominins have yet been sequenced due to accelerated DNA degradation in tropical climates.
The 2022 Science Nobel Season
Pääbo's prize kicked off a remarkable Nobel week in the sciences:
| Prize | Laureates | Citation |
|---|---|---|
| Physiology or Medicine | Svante Pääbo | Discoveries concerning the genomes of extinct hominins and human evolution |
| Physics | Alain Aspect, John F. Clauser, Anton Zeilinger | Experiments with entangled photons, establishing the violation of Bell inequalities and pioneering quantum information science |
| Chemistry | Carolyn R. Bertozzi, Morten Meldal, K. Barry Sharpless | Development of click chemistry and bioorthogonal chemistry |
The Physics prize honoured work on quantum entanglement — the phenomenon Einstein famously called "spooky action at a distance" — which has become foundational to quantum computing and cryptography. The Chemistry prize recognised tools that allow chemists to build molecules efficiently and study biological processes in living cells without interference.
Sources
- Nobel Prize press release, Nobel Assembly at Karolinska Institutet, 3 October 2022 —
- Nobel Prize in Physics 2022 press release —
- Nobel Prize in Chemistry 2022 press release —
- Green RE et al., A draft sequence of the Neandertal genome, Science 328:710–722 (2010)
- Krause J et al., The complete mitochondrial DNA genome of an unknown hominin from southern Siberia, Nature 464:894–897 (2010)
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