Nobel Laureate Pebble: Ancient human genetic research may help understand modern health

Original link: https://tyingknots.net/2022/10/paabo/

Where do humans come from? Where are you going? These have always been questions anthropologists have been tirelessly trying to answer, and Pebble’s research has been exploring these questions for decades based on the development of genetic theory and technology. In 2022, the Nobel Prize in Physiology or Medicine was awarded to Svante Pääbo for his contributions to paleoanthropological genomic research. Yushengzhi invited Dr. Li Li to briefly sort out the academic research of Pabo and his team’s research. She is currently a postdoctoral researcher in the Department of Human Evolution at the Max Planck Institute for Evolutionary Anthropology. Interested readers can also find a list of all references cited in the text at the end of the text.

Author / Li Li (postdoctoral researcher at the Department of Human Evolution at the Max Planck Institute for Evolutionary Anthropology)
Editor / Wang Jing

Telephone interview with 2022 Nobel Laureate in Physiology or Medicine, Swante Pebble, source: https://www.youtube.com/watch?v=gAxhRTpSgVM

The 2022 Nobel Prize in Physiology or Medicine has been awarded to Svante Pääbo (hereafter Pääbo) for his contributions to the exploration of the extinct human genome and human evolution.

Pääbo is currently with the Evolutionary Genetics Unit at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany. As one of the founders of paleogenetics, Pääbo is dedicated to demystifying human evolution through the analysis of ancient human genes.

Swante Pebble, source UPI

Pääbo’s doctoral dissertation focused on how the adenovirus E19 protein regulates the immune system. However, in addition to the related research on viral proteins, Pääbo also published a study on the genetic testing of a 2400-year-old Egyptian mummy in the journal Nature during his Ph.D. [1]. In this study, he successfully detected and replicated the mummy’s genetic sequence, which was the beginning of Pääbo’s later research on ancient human genes.

FOXP2 (Forkhead box protein P2) gene, also known as forkhead box P2 gene, is a group of genes related to the development of language function. In 2002, Pääbo’s team found that during the evolution of Homo sapiens, the FOXP2 gene, which is beneficial for language growth, underwent selective events and eventually replaced other alleles [2]. However, this selection event did not occur in other primates (gorillas, chimpanzees, orangutans, and rhesus monkeys) and mammals (mice). Thus, FOXP2 is considered to be one of the key factors in the development of Homo sapiens speech form, and some of its variants may lead to speech deficits. However, a more complete analysis of the FOXP2 gene later suggested that a strong selective event for FOXP2 gene mutations did not occur in the evolutionary process of Homo sapiens [3]. In other words, FOXP2 has not changed in the recent evolution of Homo sapiens, but it is still related to human language ability. These series of studies further prove the complexity of human evolution.

In 1997, Pääbo’s team sampled a fossilized Neanderthal right humerus found in Germany and published the first mitochondrial genetic sequencing of an extinct Neanderthal [4]. After comparing it with modern human genomes, Pääbo’s team concluded that Neanderthals had little genetic communication with modern humans of African origin before their extinction (a conclusion that was overturned in later studies).

The researchers extracted high-quality genome sequences from this Neanderthal toe bone. Source: https://ift.tt/J1r8jtm

In 2006, Pääbo announced plans to reconstruct the Neanderthal genome. His team published the complete mitochondrial genome sequencing of Neanderthals in 2008 [5], and published the results of the first complete Neanderthal genome sequencing in 2013 [6]. Pääbo’s team’s research on Neanderthal genome sequencing shows that Neanderthals and modern humans had multiple genetic (genetic) (reproduction) (communication) (interaction) (mate) studies, which is of great significance to the study of human evolution. significance.

Neanderthal Man: In Search of Lost Genomes , 2014

In 2010, Pääbo’s team published a report on mitochondrial gene sequencing of ancient human phalanges. It turned out that the bone belonged to a then-unknown extinct hominin, the Denisovan [7]. Comparative analysis of mitochondrial genes suggests that Denisovans shared a common ancestor with Homo sapiens and Neanderthals about a million years ago.

Scientists have discovered in Denisovan caves in the Altai Mountains that both Neanderthals and Denisovans lived here before the arrival of Homo sapiens. Source: https://ift.tt/J1r8jtm

In 2020, a study that Pääbo participated in suggested that the ancestors of some modern humans inherited genes from Neanderthals that may contribute to the aggravation of new crown symptoms [8]. About 50% of the Asian population and 16% of the European population carry these genes, and Bangladesh has 63% of the population, the highest in the world. The study also cites Covid-19 data from the UK, demonstrating that people of Bangladeshi ancestry in the UK have twice the risk of dying from Covid-19 as the general population.

Distribution of genes that increase the risk of severe COVID-19 in the global population, source: Zeberg, H., Pääbo, S.: The major genetic risk factor for severe COVID-19 is inherited from Neanderthals. Nature. 587, 610–612 (2020)

Pääbo’s exploration of ancient genes can not only help us unravel the mysteries of human evolution, but also the impact on modern human health through the study of ancient human genetic exchanges.

Web page: https://ift.tt/LsWFjkN

Index: 1. Pääbo, S.: Molecular cloning of ancient Egyptian mummy DNA. nature. 314, 644–645 (1985) 2. Enard, W., Przeworski, M., Fisher, SE, Lai, CS, Wiebe, V ., Kitano, T., Monaco, AP, Pääbo, S.: Molecular evolution of FOXP2, a gene involved in speech and language. Nature. 418, 869–872 (2002) 3. Atkinson, EG, Audesse, AJ, Palacios , JA, Bobo, DM, Webb, AE, Ramachandran, S., Henn, BM: No evidence for recent selection at FOXP2 among diverse human populations. Cell. 174, 1424–1435 (2018) 4. Krings, M., Stone , A., Schmitz, RW, Krainitzki, H., Stoneking, M., Pääbo, S.: Neandertal DNA sequences and the origin of modern humans. cell. 90, 19–30 (1997) 5. Green, RE, Malaspinas , A.-S., Krause, J., Briggs, AW, Johnson, PL, Uhler, C., Meyer, M., Good, JM, Maricic, T., Stenzel, U.: A complete Neandertal mitochondrial genome sequence determined by high-throughput sequencing. Cell. 134, 416–426 (2008) 6. Prüfer, K., Racimo, F., Patterson, N., Jay, F., Sankararaman, S., Sawyer, S., Heinze , A., Renaud, G., Sudmant, PH, De Filippo, C.: The complete genome sequence of a Neanderthal from the Altai Mountains. Nature. 505, 43–49 (2014) 7. Krause, J., Fu, Q., Good, JM, Viola, B., Shunkov, MV, Derevianko, AP, Pääbo, S.: The complete mitochondrial DNA genome of an unknown hominin from southern Siberia. Nature. 464, 894–897 (2010)8. Zeberg, H., Pääbo, S. : The major genetic risk factor for severe COVID-19 is inherited from Neanderthals. Nature. 587, 610–612 (2020)

This article is reprinted from: https://tyingknots.net/2022/10/paabo/
This site is for inclusion only, and the copyright belongs to the original author.