The Nobel Prize in Physiology or Medicine 2022 has been awarded to Svante Pääbo, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany, and Okinawa Institute of Science and Technology, Okinawa, Japan, “for his discoveries concerning the genomes of extinct hominins and human evolution.”
Research
Svante Pääbo sequenced the genome of the Neanderthal, an extinct relative of present-day humans. The modern human, Homo sapiens, first appeared in Africa approximately 300,000 years ago. Our closest known relatives, Neanderthals, developed outside Africa and populated Europe and Western Asia from around 400,000 years ago until 30,000 years ago and then went extinct. About 70,000 years ago, groups of Homo sapiens migrated from Africa to the Middle East and then spread to the rest of the world. Homo sapiens and Neanderthals, thus, coexisted in large parts of Eurasia for tens of thousands of years.
DNA from Neanderthal Mitochondria
Studying the DNA of Neanderthals is highly technically challenging, because after thousands of years, only trace amounts of DNA are left, and what remains is highly contaminated with DNA from other species. Pääbo first decided to analyze DNA from Neanderthal mitochondria—organelles in cells that contain their own DNA. 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. Pääbo was able to sequence a region of mitochondrial DNA [1], which provided limited information.
First Nuclear DNA Sequence
Pääbo then took on the challenge of sequencing the Neanderthal’s nuclear genome, using improved technologies and methods. He published the first Neanderthal genome sequence in 2010 [2]. He found that gene transfer had occurred from Neanderthals to Homo sapiens following the migration out of Africa. These archaic gene sequences from our extinct relatives influence the physiology of present-day humans.
A New Hominin
Pääbo also discovered a previously unknown hominin (hominins = a group consisting of modern humans, extinct human species, and all our immediate ancestors). In 2008, a 40,000-year-old fragment from a finger bone was discovered in the Denisova cave in the southern part of Siberia. The bone contained exceptionally well-preserved DNA, which Pääbo’s team sequenced [3]. The DNA sequence was unique when compared to all known sequences from Neanderthals and present-day humans. The team had discovered a previously unknown hominin, which was given the name Denisova. Pääbo found that gene flow had also occurred between Denisova and Homo sapiens.
Pääbo’s research gave rise to an entirely new scientific discipline; paleogenomics. By revealing genetic differences that distinguish all living humans from extinct hominins, his discoveries provide the basis for understanding human evolution and migration.
Svante Pääbo
Svante Pääbo, born in Stockholm, Sweden, on April 20, 1955, studied medicine at the University of Uppsala, Sweden, after having performed studies at the faculty of humanities. He gained his Ph.D. from the University of Uppsala in 1986. After postdoctoral research at the University of Zurich, Switzerland, and the University of California at Berkeley, CA, USA, he received his habilitation in medical genetics from the University of Uppsala in 1990. From 1990 to 1998, he was a full professor of general biology at the University of Munich, Germany. Since 1997, Svante Pääbo is Director of the Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany, and since 1999, Honorary Professor of Genetics and Evolutionary Biology, University of Leipzig, Germany. He is also Professor at Okinawa Institute of Science and Technology, Japan.
Among other honors, Svante Pääbo received the Gottfried Wilhelm Leibniz Prize of the DFG (German Research Foundation) in 1992, the Lomonosov Large Gold Medal from the Russian Academy of Sciences, Moscow, in 2015, the Nakasone Award of the Human Frontier Science Program, Strasbourg, France, in 2018, the Darwin-Wallace Medal of the The Linnean Society of London, UK, in 2019, and the Wiley Prize in Biomedical Sciences 2019.
References
[1] Matthias Krings, Anne Stone, Ralf W. Schmitz, Heike Krainitzki, Mark Stoneking, Svante Pääbo, Neandertal DNA Sequences and the Origin of Modern Humans, Cell 1997, 90, 19-30. https://doi.org/10.1016/S0092-8674(00)80310-4
[2] Richard E. Green, Johannes Krause, Adrian W. Briggs, Tomislav Maricic, Udo Stenzel, Martin Kircher, Nick Patterson, Heng Li, Weiwei Zhai, Markus Hsi-Yang Fritz, Nancy F. Hansen, Eric Y. Durand, Anna-Sapfo Malaspinas, Jeffrey D. Jensen, Tomas Marques-Bonet, Can Alkan, Kay Prüfer, Matthias Meyer, Hernán A. Burbano, Jeffrey M. Good, Rigo Schultz, Ayinuer Aximu-Petri, Anne Butthof, Barbara Höber, Barbara Höffner, Madlen Siegemund, Antje Weihmann, Chad Nusbaum, Eric S. Lander, Carsten Russ, Nathaniel Novod, Jason Affourtit, Michael Egholm, Christine Verna, Pavao Rudan, Dejana Brajkovic, Željko Kucan, Ivan Gušic, Vladimir B. Doronichev, Liubov V. Golovanova, Carles Lalueza-Fox, Marco de la Rasilla, Javier Fortea, Antonio Rosas, Ralf W. Schmitz, Philip L. F. Johnson, Evan E. Eichler, Daniel Falush, Ewan Birney, James C. Mullikin, Montgomery Slatkin, Rasmus Nielsen, Janet Kelso, Michael Lachmann, David Reich, Svante Pääbo, A Draft Sequence of the Neandertal Genome, Science 2010, 328, 710–722. https://doi.org/10.1126/science.1188021
[3] Johannes Krause, Qiaomei Fu, Jeffrey M. Good, Bence Viola, Michael V. Shunkov, Anatoli P. Derevianko, Svante Pääbo, The complete mitochondrial DNA genome of an unknown hominin from southern Siberia, Nature 2010, 464, 894–897. https://doi.org/10.1038/nature08976
Selected Publications by Svante Pääbo
- The major genetic risk factor for severe COVID-19 is inherited from Neanderthals,
Hugo Zeberg, Svante Pääbo,
Nature 2020, 587, 610–612.
https://doi.org/10.1038/s41586-020-2818-3 - A high-coverage Neandertal genome from Vindija Cave in Croatia,
Kay Prüfer, Cesare de Filippo, Steffi Grote, Fabrizio Mafessoni, Petra Korlević, Mateja Hajdinjak, Benjamin Vernot, Laurits Skov, Pinghsun Hsieh, Stéphane Peyrégne, David Reher, Charlotte Hopfe, Sarah Nagel, Tomislav Maricic, Qiaomei Fu, Christoph Theunert, Rebekah Rogers, Pontus Skoglund, Manjusha Chintalapati, Michael Dannemann, Bradley J. Nelson, Felix M. Key, Pavao Rudan, Željko Kućan, Ivan Gušić, Liubov V. Golovanova, Vladimir B. Doronichev, Nick Patterson, David Reich, Evan E. Eichler, Montgomery Slatkin, Mikkel H. Schierup, Aida M. Andrés, Janet Kelso, Matthias Meyer, Svante Pääbo,
Science 2017, 358, 655–658.
https://doi.org/10.1126/science.aao1887 - Separating endogenous ancient DNA from modern day contamination in a Siberian Neandertal,
Pontus Skoglund, Bernd H. Northoff, Michael V. Shunkov, Anatoli P. Derevianko, Svante Pääbo, Johannes Krause, Mattias Jakobsson,
Proc. Natl. Acad. Sci. USA 2014, 111, 2229–2234.
https://doi.org/10.1073/pnas.1318934111 - The human condition – a molecular approach,
Svante Pääbo,
Cell 2014, 157(1), 216–226.
https://doi.org/10.1016/j.cell.2013.12.036 - Neanderthal Man: In Search of Lost Genomes,
Svante Pääbo,
Basic Books, New York, USA, 2014.
ISBN: 978-0-465-02083-6 - The Date of Interbreeding between Neandertals and Modern Humans,
Joshua M. Akey, Sriram Sankararaman, Nick Patterson, Heng Li, Svante Pääbo, David Reich,
PLoS Genetics 2012.
https://doi.org/10.1371/journal.pgen.1002947 - Genetic history of an archaic hominin group from Denisova Cave in Siberia,
David Reich, Richard E. Green, Martin Kircher, Johannes Krause, Nick Patterson, Eric Y. Durand, Bence Viola, Adrian W. Briggs, Udo Stenzel, Philip L. F. Johnson, Tomislav Maricic, Jeffrey M. Good, Tomas Marques-Bonet, Can Alkan, Qiaomei Fu, Swapan Mallick, Heng Li, Matthias Meyer, Evan E. Eichler, Mark Stoneking, Michael Richards, Sahra Talamo, Michael V. Shunkov, Anatoli P. Derevianko, Jean-Jacques Hublin, Janet Kelso, Montgomery Slatkin, Svante Pääbo,
Nature 2010, 468, 1053–1060.
https://doi.org/10.1038/nature09710 - The complete mitochondrial DNA genome of an unknown hominin from southern Siberia,
Johannes Krause, Qiaomei Fu, Jeffrey M. Good, Bence Viola, Michael V. Shunkov, Anatoli P. Derevianko, Svante Pääbo,
Nature 2010, 464, 894–897.
https://doi.org/10.1038/nature08976 - Sequencing and Analysis of Neanderthal Genomic DNA,
James P. Noonan, Graham Coop, Sridhar Kudaravalli, Doug Smith, Johannes Krause, Joe Alessi, Feng Chen, Darren Platt, Svante Pääbo, Jonathan K. Pritchard, Edward M. Rubin,
Science 2006, 314, 1113–1118.
https://doi.org/10.1126/science.1131412 - DNA extraction from Pleistocene bones by a silica-based purification method,
M. Hoss, S. Pääbo,
Nucleic Acids Res. 1993, 21, 3913–3914.
https://doi.org/10.1093/nar/21.16.3913 - Ancient DNA: extraction, characterization, molecular cloning, and enzymatic amplification,
Svante Pääbo,
Proc. Natl. Acad. Sci. USA 1989, 86, 1939–1943
https://doi.org/10.1073/pnas.86.6.1939 - Polymerase chain reaction reveals cloning artefacts,
S. Pääbo, A. C. Wilson,
Nature 1988, 334, 387–388.
https://doi.org/10.1038/334387b0 - Molecular cloning of Ancient Egyptian mummy DNA,
Svante Pääbo,
Nature 1985, 314, 644–645.
https://doi.org/10.1038/314644a0
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