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The winner of the 2022 Nobel Prize in Physiology or Medicine is Swedish geneticist Svante Pääbo. The award was given for "discoveries concerning the genomes of extinct hominins and human evolution." The prize is worth 10 million Swedish kronor (896,256.51 US dollars).
The award recognizes how the Swedish geneticist's work in the field of evolutionary genetics. This has led us to a crucial understanding of the genome of extinct hominids. In 1997, together with colleagues, Pääbo managed to extract mitochondrial DNA from a Neanderthal bone.
Sequencing the full genome of Neanderthals was an enormous challenge that was completed in over a decade later, published in the journal Science in May 2010.
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quote:Press release: The Nobel Prize in Physiology or Medicine 2022
The Nobel Assembly at Karolinska Institutet has today decided to award the 2022 Nobel Prize in Physiology or Medicine to Svante Pääbo for his discoveries concerning the genomes of extinct hominins and human evolution
Humanity has always been intrigued by its origins. Where do we come from, and how are we related to those who came before us? What makes us, Homo sapiens, different from other hominins?
Through his pioneering research, Svante Pääbo accomplished something seemingly impossible: sequencing the genome of the Neanderthal, an extinct relative of present-day humans. He also made the sensational discovery of a previously unknown hominin, Denisova. Importantly, Pääbo also found that gene transfer had occurred from these now extinct hominins to Homo sapiens following the migration out of Africa around 70,000 years ago. This ancient flow of genes to present-day humans has physiological relevance today, for example affecting how our immune system reacts to infections.
Pääbo’s seminal 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 exploring what makes us uniquely human.
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The guy who discovered SSA maternal haplogroups in Middle Kingdom (or is it Old Kingdom) mummies. Then, he dismissed it as false results.
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quote:Originally posted by Mansamusa: The guy who discovered SSA maternal haplogroups in Middle Kingdom (or is it Old Kingdom) mummies. Then, he dismissed it as false results.
Are you implying he was lying or hiding something ? Seems like you forget modern north africans have substantial amount of SSA mtDNAs.
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(book) (out or print) Biological Anthropology and the Study of Ancient Egypt. London: British Museum Press. pp. 86-90.
chapter by Paabo:
A MOLECULAR APPROACH TO THE STUDY OF EGYPTIAN HISTORY
Svante Pääbo and Anna Di Ricnzo 1989 (referring to 1985 research)
In Egypt, an extensive survey of the mtDNA variability in the Nile Delta population is in progress and preliminary results (Di Rienzo and Wilson in preparation) allow one to formulate hypotheses on the origin and history of this population. For example, one interesting finding is that a small subset of modem Egyptian mitochondrial DNA lineages are closely related to Sub-Saharan African lineages. Fig. 1 shows the phylogenetic relationships among such lineages. Two different patterns are observed. In one case (Fig. 1A) two Egyptian lineages branch off from different African lineages. A reconstruction of migration cvents, indicated by arrows, suggests that the two Egyptian lineages originated independently from an ancestral African population. The application of a time scale to the tree could allow an estimation of the time interval when these migrations occurred. In the case of the diagram in Fig. 1A, one migration has occurred in the interval between 12 in the past and the present, while the other migration took place in the interval between 13 in the past and the present. In the case depicted in Fig. 1B, two Egyptians are also closely related to Sub-Saharan lineages. However, in this case the two Egyptian lineages are each other's closest relatives. This allows one to explain the occurrence of these lineages in Egypt with only one migration event involving an ancestor of the two Egyptian lineages (arrow). In this case, an older (13) as well as a younger time limit (t1) in the past can be inferred for the migration. We envision that when we gain a better knowledge of the mitochondrial DNA variability of the Egyptian population, we will be able to arrive at a quantitative estimate of the numbers of such migration events that have occurred as well as of their timing. These inferences can then be tested by going back in time to mummies and skeletal remains. An illustration of the feasibility of this approach is provided by the mummy of Nekht-Ankh, a priest of the Middle Kingdom. Short mitochondrial DNA sequences (45 and 81 nucleotides long) have been determined by PCR and direct sequencing from the remains of his liver found in a canopic jar (Paabo, 1989). When this sequence is compared to the sequences determined from the Delta population, it is found that it is. identical to four of the modern Egyptian mitochondrial lineages. However, in order to achieve comparisons that are statistically meaningful, sequences that are as long as the modern ones (approximately 400 nucleotides) will have to be determined from the ancient populations. This is a laborious task because the ancient DNA is degraded to such an extent that a 400 nucleotide sequence needs to be determined in approximately eight shorter, overlapping pieces. However, we believe that this work is well worth the effort, since it will give us the first molecular view ever of an ancient human population and of its modern descendants.
Imagine: An Interview with Svante Pääbo Jane Gitschier Published: March 28, 2008
(excerpt on mummies)
Pääbo (see Image 1) broke ground in 1985, working surreptitiously at night in the lab where he conducted his unrelated PhD research, to extract, clone, and sequence DNA from an Egyptian mummy. From there, he joined the late Allan Wilson as a post-doctoral fellow in Berkeley, where together they rejuvenated sequences from extinct species. Returning to Europe, he landed a full professor position in Munich. He is now Director of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig.
JG: I read your paper from 1985 about sequencing the mummy remains. What was the genesis of that?
SP: I knew there were hundreds and thousands of mummies around in museums and that they found hundreds of new ones every year, and molecular cloning in bacteria was a rather new thing at the time, so I found in the literature that no one had tried to extract DNA from Egyptian mummies, or any old remains actually. So I started to do that as a hobby in late evenings and weekends, secretly from my thesis advisor.
JG: As a lowly graduate student, where do you find a piece of mummy to start this investigation?
SP: I had studied Egyptology, so the professor of Egyptology knew me quite well. He helped me to sample a mummy in the museum in Uppsala. He also had very good connections with a very large museum in Berlin, which was East Berlin at the time. Germany has a long, long tradition in Egyptology, going back to the 19th century. After the British Museum and the Museum in Paris, the Berlin Museum has the biggest collection outside Egypt.
JG: So you went with your professor to the museum in East Berlin…
SP: He had convinced them of our idea in advance. We sampled, I think, 36 different mummies. Small samples, of course.
JG: Had people ever looked at mummy tissue before, at things like proteins?
SP: There had been some work on histology of mummies, and there had been some work on trying immunoreactivity of proteins extracted from it, with very mixed results. I don't think there were any convincing results from Egyptian mummies.
JG: In what kind of state are the mummies? Are you wearing gloves or masks? What are you doing?
SP: We only worked with mummies that were already unwrapped and with things that were broken, so we were not destroying anything to get to the tissues. With a scalpel we removed a little piece. It was the first time this was done, so we had no big qualms about contamination. I had no idea this could be such a big issue.
JG: What did you do with these 36 scalpeled samples?
SP: We screened them with histology. We looked at both with traditional stainings—hematoxylin-and-eosin staining and staining with ethidium bromide—and under UV light to see if one could see any fluorescence from DNA. In the skin of a particular mummy, you could see that the cell nuclei lit up. So, there was DNA there and at the place you would expect it to be.
JG: Was your interest in this simply the challenge of getting DNA sequence out of it or was there a bigger idea?
SP: It was clearly the idea that if you could study the DNA of ancient Egyptians, you could elucidate aspects of Egyptian history that you couldn't by traditional sources of archeology and the written records.
JG: Do you mean the relationships between people?
SP: Population history. Say, when Alexander the Great conquered Egypt, did that mean there were lots of people from Greece who actually came there and settled there? When the Assyrians came there, did that have an influence? Or was the population continuous? Political things that influenced the population.
Since then it has become clear that it is almost impossible to work with human remains because of contamination. It is very hard to exclude that the DNA you look at is not contaminated with modern humans.
JG: Then, how do we know that this sequence in the 1985 paper is in fact the sequence of a real Egyptian?
SP: In hindsight, we don't know that. In 1985, I had no idea how hard this is [to retrieve uncontaminated ancient DNA sequences] and thus did not do the controls we now know are necessary. We've even published at a later point on this.
JG: But there have been no data to refute the sequence of this mummy.
SP: But nothing to prove it either! It could well have been contamination, and if that was the last that had ever been written on ancient DNA, that would have been a sad state of affairs and the end of the field.
JG: Have people gone on to look at more mummy DNA since then?
SP: Egyptian mummies are actually quite badly preserved; also animal mummies. This probably has to do with climate. It seems the cooler it is, the better preserved things are. We looked at a few Neanderthal remains from Israel and Palestine and they have so far not yielded any DNA.
JG: What is it like to travel all over the world to try to get specimens?
SP: To sample these things takes building confidence—in museum curators and archeologists and paleontologists—that we can actually get information from them. And, of course, it is a balance for a curator between a destructive sampling for scientific progress against responsibility for future generations to preserve these things. With justification, you can sometimes say that if you can just wait 30 years, methods will be so much better.
What you actually do is a several stage process, where you first take very small samples, of say 10 mg, and just see if there are amino acids preserved—the amino acid profile of collagen. If there is no collagen preservation, it turns out there is hardly ever DNA. We can already exclude a lot of remains that way.
And then we take samples of 100–200 mg, extract DNA, and see if we can find Neanderthal DNA. And then for the genome project where we need larger samples, we use bones that have very little morphological information. So in the Museum in Zagreb, which houses the Vindija remains, we screen bones of which it cannot be said from the morphology if they are human or animal. By doing extraction from 100 mg, you can determine the species from the mitochondrial DNA. So the paleontologists gain something—they learn what species the different bones come from, and so it is easy to justify taking half a gram from them if they turn out to be Neanderthal bones.
JG: So now, back to the mummies. That was not your thesis.
SP: No, but then I had to tell my thesis advisor that I had done this! He was happy that it had been successful. I don't think he would have been so happy if I had presented it before it happened. ______________________________
The kinship of two 12th Dynasty mummies revealed by ancient DNA sequencing
Authors: Konstantina DrosouCampbell PriceTerence Brown
Abstract We resolve a longstanding question regarding the kinship of two high-status Egyptians from the 12th Dynasty, Nakht-Ankh and Khnum-Nakht, whose mummies were discovered in 1907 by Egyptian workmen directed by Flinders Petrie and Ernest Mackay. Although their coffin inscriptions indicate that Nakht-Ankh and Khnum-Nakht were brothers, when the mummies were unwrapped in 1908 the skeletal morphologies were found to be quite different, suggesting an absence of family relationship. We extracted ancient DNA from the teeth of the two mummies and, following hybridization capture of the mitochondrial and Y chromosome fractions, sequenced the DNA by a next generation method. Analysis of single nucleotide polymorphisms showed that both Nakht-Ankh and Khnum-Nakht belonged to mitochondrial haplotype M1a1, suggesting a maternal relationship. The Y chromosome sequences were less complete but showed variations between the two mummies, indicating that Nakht-Ankh and Khnum-Nakht had different fathers. Our study emphasizes the importance of kinship in ancient Egypt, and represents the first successful typing of both mitochondrial and Y chromosomal DNA in Egyptian mummies. Two teeth from each mummy were extracted from the maxillae in one sampling stage.Posts: 42918 | From: , | Registered: Jan 2010
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Pääbos first passion was actually Egyptology. He came to be interested in that field of knowledge after he travelled to Egypt with his mother. During their trip they visited, among other places, the Cheops pyramid and the tomb of Tuthankhamon.
Later he started to study Egyptology at Uppsala university. But after a few semesters he got tired of it because he saw no sign of progression in the field.
Source: Svante Pääbos väg till Nobelpriset (Svante Pääbos road to the Nobel Price) Forskning och Framsteg (Research and progression) November 2022
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quote:Originally posted by Mansamusa: The guy who discovered SSA maternal haplogroups in Middle Kingdom (or is it Old Kingdom) mummies. Then, he dismissed it as false results.
Are you implying he was lying or hiding something ? Seems like you forget modern north africans have substantial amount of SSA mtDNAs.
You also have this study "Paabo, S., and A. Di Rienzo, A molecular approach to the study of Egyptian history. In Biological Anthropology and the Study of Ancient Egypt. V. Davies and R. Walker, eds. pp. 86-90. London: British Museum Press. 1993"
Which I can't link because its nowhere to be found.
Dude did too many studies that were just sat on. It was 12th dynasty. I even asked him for a copy of it years ago and dude sent me something on Neanderthals. Posts: 1254 | From: howdy | Registered: Mar 2014
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You also have this study "Paabo, S., and A. Di Rienzo, A molecular approach to the study of Egyptian history. In Biological Anthropology and the Study of Ancient Egypt. V. Davies and R. Walker, eds. pp. 86-90. London: British Museum Press. 1993"
Which I can't link because its nowhere to be found.
read the thread, my previous post quotes Paabo from this book and after that, this same post has later interview with him about it also - that quote has not been on the internet until now. The source is Paabo's chapter in the now out of Print book published by the British Museum "Biological Anthropology and the Study of Ancient Egypt'. It was never a peer reviewed science article submission and the interview in that post explains. That quote from the book has all the details pertaining to the mummy. There was no data or charts pertaining to that mummy and the rest of chapter is not specifically about that mummy
Then at the bottom a 2018 article that DNA tested this same mummy, Nekht-Ankh, that Paabo tested in 1985 from canopic jar sample. They determined mitochondrial haplogroup M1a1, and for his brother
conspiracy over
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So the 85 and 94 test that produced 'multiple lineages from different locations' really just produced 2 sets of M1a1? Posts: 1254 | From: howdy | Registered: Mar 2014
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quote:Originally posted by Forty2Tribes: So the 85 and 94 test that produced 'multiple lineages from different locations' really just produced 2 sets of M1a1?
there is only one test he did in 1985
and if you read the interview, I posted earlier he talks about it
You also have this study "Paabo, S., and A. Di Rienzo, A molecular approach to the study of Egyptian history. In Biological Anthropology and the Study of Ancient Egypt. V. Davies and R. Walker, eds. pp. 86-90. London: British Museum Press. 1993"
Which I can't link because its nowhere to be found.
what you have here is not an article it's an out of print book where he talks about the research in one of the books chapters.
His chapter in this book is called "A molecular approach to the study of Egyptian history" The book title " Biological Anthropology and the Study of Ancient Egypt.'
This is what you have above
____________________________
Here are his 1985 articles, this is very early for aDNA study and the articles are about procedure:
Nature 1985 Apr;314(6012):644-5. doi: 10.1038/314644a0. Molecular cloning of Ancient Egyptian mummy DNA S Pääbo PMID: 3990798 DOI: 10.1038/314644a0
another article 3 years later, he couldn't get Egyptian sequences long enough for a genome except for one, Nakht-Ankh. He also had samples from Norway and other aDNA
Pääbo was able clone a DNA library from a 2,400-year-old mummy sample and screened it with human repeat sequences, revealing human DNA among the clones. However, Pääbo soon realized that working with ancient DNA is plagued with technological challenges and he later acknowledged that the results described in the first publication likely suffered from contamination by DNA from contemporary humans. He therefore focused on improving the techniques, which was best done by analyzing ancient DNA from non-human species where contamination was more easily detected.
It wasn't until 2018 that one of these same mummies was tested by other researcher and determine a haplogroup
from the 2008 interview: Jane Gitschier : Then, how do we know that this sequence in the 1985 paper is in fact the sequence of a real Egyptian?
Svante Pääbo: In hindsight, we don't know that. In 1985, I had no idea how hard this is [to retrieve uncontaminated ancient DNA sequences] and thus did not do the controls we now know are necessary. We've even published at a later point on this.
_____________________
(Nakht-Ankh, testing in 2018, as M1a1) of 23 mummies this was the only one that Pääbo was able to sequence but this is very early in aDNA testing and he could not do proper controls against contamination
read carefully my post above 04 October, 2022 07:32 PM
A MOLECULAR APPROACH TO THE STUDY OF EGYPTIAN HISTORY
this book quote has more commentary about the sample's lineage than the actual 85 articles (I have read both of them) that are about methodology and it's limits at that time
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Svante Pääbo and three other researchers talk about ancient genes
quote:Linnaeus Lecture and Symposium in Biology
Archaic Genomics Svante Pääbo, Director at the Max-Planck Institute for Evolutionary Anthropology in Leipzig, Germany
The genetic history of Africa based on modern and ancient DNA Carina Schlebusch, Associate Professor at the Department of Organismal Biology, Uppsala University
The genetics of the Nordic European Iron age Anders Götherström, Professor in Molecular Archaeology, Stockholm University
Panel discussion Moderator: Per Ahlberg, Professor of Evolutionary Organismal Biology, Department of Organismal Biology, Uppsala University
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