The Nobel Prize in Medicine is awarded for research in evolution

The Nobel Prize in Medicine is awarded for research in evolution

Swedish scientist Svante Pääbo smiles at the award ceremony at the Hamburg Kerber Foundation’s European Science Prize, in Hamburg, Germany, September 7, 2018. On Monday, October 3, 2022, the Nobel Prize in Physiology or Medicine is awarded to Swedish scientist Svante Pääbo for his discoveries in evolution human. Credit: Christian Charisius / dpa via AP

This year’s Nobel Prize in Physiology or Medicine is awarded to Swedish scientist Svante Pappo for his discoveries in human evolution.

Thomas Perlman, Secretary of the Nobel Committee, announced the winner on Monday at the Karolinska Institutet in Stockholm, Sweden.

Papo led research comparing the genomes of modern humans and our closest extinct relatives, Neanderthals and Denisovans, showing admixture between species.

The Medicine Prize was the start of a week after the Nobel Prize was announced. Tuesday continues with the Physics Prize, Chemistry on Wednesday and Literature on Thursday. The 2022 Nobel Peace Prize will be announced on Friday and the Economics Prize on October 10.

The drug was received last year by David Julius and Erdem Patbutian for their discoveries about how the human body perceives temperature and touch.

The prizes carry a cash prize of 10 million Swedish kronor (approximately $900,000) and will be awarded on December 10. The money comes from a will left by the prize’s creator, Swedish inventor Alfred Nobel, who died in 1895.

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Nobel Committee Press Release: The Nobel Prize in Physiology or Medicine 2022

Nobel Assembly at Karolinska Institutet

I decided to give it today

2022 Nobel Prize in Physiology or Medicine

to me

Svante Papu

The Nobel Prize in Medicine is awarded for research in evolution

This Tuesday, December 8, 2020 file photo of the Nobel medal is displayed during a ceremony in New York. Credit: Angela Weiss/Pool Photo via AP, File

For his discoveries concerning the genomes of extinct hominins and human evolution

Humanity has always been fascinated by its origins. Where did we come from, and what is our relationship with those who preceded us? What makes us, Homo sapiens, different from other hominins?

Through his pioneering research, Svante Pääbo has accomplished something seemingly impossible: sequencing the genome of Neanderthals, a relative of present-day extinct humans. He also made the exciting discovery of a previously unknown human, Denisova. Most importantly, Pääbo found it too gene transfer From these now extinct humans to Homo sapiens after migrating out of Africa about 70,000 years ago. This ancient flow of genes into modern humans is of physiological relevance today, for example influencing how our immune system reacts to infection.

Pääbo’s basic research gave rise to an entirely new scientific discipline. Paleontology. by detecting genetic differences that distinguishes all living humans from extinct hominins, his discoveries provide the basis for exploring what makes us uniquely human.

Where did we come from?

The question of our origin and what makes us unique has involved humanity ever since Antiquity. Paleontology and archeology are important to studies of human evolution. Research has provided evidence that anatomically modern humans, Homo sapiens, first appeared in Africa about 300,000 years ago, while our closest known relative, Neanderthals, evolved outside Africa and populated Europe and western Asia from about 400,000 years ago until 30,000 years ago, at which point The point is extinct. About 70,000 years ago, groups of Homo sapiens migrated from Africa to the Middle East, and from there spread to the rest of the world. Thus Homo sapiens and Neanderthals coexisted in large parts of Eurasia for tens of thousands of years. But what do we know about our relationship with the extinct Neanderthals? Clues may be derived from genomic information. By the end of the 1990s, almost the entire human genome had been sequenced. This was a major achievement, which allowed for subsequent studies of the genetic relationship between different human groups. However, studies of the relationship between present-day humans and the extinct Neanderthals require genomic DNA sequences recovered from ancient samples.

A seemingly impossible task

Early in his career, Svante Pääbo was fascinated by the possibility of using modern genetic methods to study Neanderthal DNA. However, he soon realized the severe technical challenges, because over time DNA becomes chemically modified and degrades into short fragments. After thousands of years, only trace amounts of DNA remain, and what remains is heavily contaminated with DNA from bacteria and modern humans (Fig. 1). As a postdoctoral student with Alan Wilson, a pioneer in the field of evolutionary biology, Pääbo began developing methods for studying DNA from Neanderthals, a multi-decade endeavor.

In 1990, Papo was appointed to the University of Munich, where he continued his work as a newly appointed professor on ancient DNA. He decided to analyze DNA taken from Neanderthal mitochondria – organelles in cells that contain their own DNA. The Mitochondrial genome It is small and contains only a fraction of the genetic information in the cell, but it is present in thousands of copies, which increases the chance of success. Thanks to his refined methods, Pääbo was able to sequence a region of mitochondrial DNA from a 40,000-year-old piece of bone. And so, for the first time, we were able to access a sequence of an extinct relative. Comparisons with modern humans and chimpanzees showed that Neanderthals were genetically distinct.

sequencing the neanderthal genome

Since analyzes of the small mitochondrial genome gave only limited information, Pääbo has now taken on the enormous challenge of sequencing the nuclear genome of a Neanderthal. At that time, he was offered the opportunity to establish the Max Planck Institute in Leipzig, Germany. At the new institute, Pääbo and his team are steadily improving methods for isolating and analyzing DNA from ancient bone remains. The research team took advantage of new technical developments, which made DNA sequencing highly efficient. Pääbo also involved several important collaborators with expertise in population genetics and advanced sequencing analysis. His efforts were successful. Pääbo accomplished the seemingly impossible and could publish the first genome sequence of a Neanderthal in 2010. Comparative analyzes showed that the most recent common ancestor of Neanderthals and Homo sapiens lived about 800,000 years ago.

Pääbo and his colleagues can now investigate the relationship between Neanderthals and modern humans from different parts of the world. Comparative analyzes showed that DNA sequences from Neanderthals were more similar to sequences from modern humans originating from Europe or Asia than with modern humans originating from Africa. This means that Neanderthals and Homo sapiens interbred during thousands of years of coexistence. In modern humans of European or Asian origin, approximately 1-4% of the genome originates from Neanderthals (Fig. 2).

Exciting discovery: Denisova

In 2008, a fragment of a 40,000-year-old finger bone was discovered in the Denisova Cave in the southern part of Siberia. The bone contained exceptionally well-preserved DNA, which Papo’s team had sequenced. The results caused quite a stir: the DNA sequence was unique when compared to all known sequences from Neanderthals and present-day humans. Pääbo discovered a previously unknown hominin, which he named Denisova. Comparisons with sequences from modern humans from different parts of the world showed that gene flow also occurred between Denisova 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 Denisova DNA.

Papo’s discoveries have generated a new understanding of our evolutionary history. At the time that Homo sapiens migrated out of Africa, at least two groups of extinct hominins inhabited Eurasia. Neanderthals lived in western Eurasia, while Denisovans inhabited the eastern parts of the continent. During the expansion of Homo sapiens out of Africa and their eastward migration, they encountered and interbred not only with Neanderthals, but also with Denisovans (Fig. 3).

Paleobiology and its importance

Through his pioneering research, Svante Pääbo has created an entirely new scientific discipline, paleobiology. After the initial discoveries, his group completed analyzes of several additional genome sequences from extinct hominins. Papo’s discoveries have created a unique resource widely used by the scientific community to better understand human evolution and migration. New powerful methods of sequence analysis suggest that ancient hominins may also have mixed with Homo sapiens in Africa. However, genomes of extinct hominins in Africa have not yet been sequenced due to the accelerated degradation of ancient DNA in tropical climates.

Thanks to Svante Pääbo’s discoveries, we now understand that ancient genetic sequences from our extinct relatives influence present-day human physiology. One example is the Denisovan version of the EPAS1 gene, which confers a high altitude survival advantage and is common among Tibetans nowadays. Another example is the Neanderthal genes that influence our immune response to various types of infections.

What makes us unique human beings?

Homo sapiens is distinguished by its unique ability to create complex cultures, advanced innovations and graphic arts, as well as the ability to cross open waters and spread to all corners of our planet (Fig. 4). Neanderthals also lived in groups and had large brains (Fig. 4). They also used tools, but they have evolved very little over hundreds of thousands of years. The genetic differences between Homo sapiens and our closest extinct relatives were unknown until they were identified through Pääbo’s primary work. Extensive ongoing research focuses on analyzing the functional implications of these differences with the ultimate goal of explaining what makes us uniquely human.

Neanderthal mother, Denisovan father – newly sequenced genomes shed light on interactions between ancient hominins

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