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Originalsprog | Engelsk |
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Sider | 1-71 |
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Status | Udgivet - 2022 |
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Population Genomics of Stone Age Eurasia. / Allentoft, Morten E.; Sikora, Martin; Refoyo-Martínez, Alba; Irving-Pease, Evan K.; Fischer, Anders; Barrie, William; Ingason, Andrés; Stenderup, Jesper; Sjögren, Karl-Göran; Pearson, Alice; Mota, Barbara; Paulsson, Bettina Schulz; Halgren, Alma; Macleod, Ruairidh; Schjellerup Jørkov, Marie Louise; Demeter, Fabrice; Novosolov, Maria; Sørensen, Lasse; Nielsen, Poul-Otto; Henriksen, Rasmus H. A.; Vimala, Tharsika; McColl, Hugh; Margaryan, Ashot; Ilardo, Melissa; Vaughn, Andrew; Mortensen, Morten Fischer; Nielsen, Anne Birgitte; Hede, Mikkel Ulfeldt; Rasmussen, Peter; Vinner, Lasse; Renaud, Gabriel; Stern, Aaron; Trolle Jensen, Theis Zetner; Johannsen, Niels Nørkjær; Scorrano, Gabriele; Schroeder, Hannes; Lysdahl, Per; Ramsøe, Abigail Daisy; Skorobogatov, Andrei; Schork, Andrew Joseph; Rosengren, Anders; Ruter, Anthony; Outram, Alan; Timoshenko, Aleksey A.; Buzhilova, Alexandra; Coppa, Alfredo; Zubova, Alisa; Silva, Ana Maria; Hansen, Anders J.; Gromov, Andrey; Logvin, Andrey; Gotfredsen, Anne Birgitte; Nielsen, Bjarne Henning; González-Rabanal, Borja; Lalueza-Fox, Carles; McKenzie, Catriona J.; Gaunitz, Charleen; Blasco, Concepción; Liesau, Corina; Martinez-Labarga, Cristina; Pozdnyakov, Dmitri V.; Cuenca-Solana, David; Lordkipanidze, David O.; En’shin, Dmitri; Salazar-García, Domingo C; Price, T. Douglas; Borić, Dušan; Kostyleva, Elena; Veselovskaya, Elizaveta V.; Usmanova, Emma R.; Cappellini, Enrico; Petersen, Erik Brinch; Kannegaard, Esben; Radina, Francesca; Yediay, Fulya Eylem; Duday, Henri; Gutiérrez-Zugasti, Igor; Potekhina, Inna; Shevnina, Irina; Altinkaya, Isin; Guilaine, Jean; Hansen, Jesper; Tortosa, Joan Emili Aura; Zilhão, João; Vega, Jorge; Pedersen, Kristoffer Buck; Tunia, Krzysztof; Zhao, Lei; Mylnikova, Liudmila N.; Larsson, Lars; Metz, Laure; Yeppiskoposyan, Levon; Pedersen, Lisbeth; Sarti, Lucia; Orlando, Ludovic; Slimak, Ludovic; Klassen, Lutz; Blank, Malou; González-Morales, Manuel; Silvestrini, Mara; Vretemark, Maria; Nesterova, Marina S.; Rykun, Marina; Rolfo, Mario Federico; Szmyt, Marzena; Przybyła, Marcin; Calattini, Mauro; Sablin, Mikhail; Dobisíková, Miluše; Meldgaard, Morten; Johansen, Morten; Berezina, Natalia; Card, Nick; Saveliev, Nikolai A.; Poshekhonova, Olga; Rickards, Olga; Lozovskaya, Olga V.; Uldum, Otto Christian; Aurino, Paola; Kosintsev, Pavel; Courtaud, Patrice; Ríos, Patricia; Mortensen, Peder; Lotz, Per; Persson, Per Åke; Bangsgaard, Pernille; Damgaard, Peter de Barros; Petersen, Peter Vang; Martinez, Pilar Prieto; Włodarczak, Piotr; Smolyaninov, Roman V.; Maring, Rikke; Menduiña, Roberto; Badalyan, Ruben; Iversen, Rune; Turin, Ruslan; Vasilyiev, Sergey; Wåhlin, Sidsel; Borutskaya, Svetlana; Skochina, Svetlana; Sørensen, Søren Anker; Andersen, Søren H.; Jørgensen, Thomas; Serikov, Yuri B.; Molodin, Vyacheslav I.; Smrcka, Vaclav; Merz, Victor; Appadurai, Vivek; Moiseyev, Vyacheslav; Magnusson, Yvonne; Kjær, Kurt H.; Lynnerup, Niels; Lawson, Daniel J.; Sudmant, Peter H.; Rasmussen, Simon; Korneliussen, Thorfinn; Durbin, Richard; Nielsen, Rasmus; Delaneau, Olivier; Werge, Thomas; Racimo, Fernando; Kristiansen, Kristian; Willerslev, Eske.
2022. s. 1-71.Publikation: Working paper › Preprint › Forskning
}
TY - UNPB
T1 - Population Genomics of Stone Age Eurasia
AU - Allentoft, Morten E.
AU - Sikora, Martin
AU - Refoyo-Martínez, Alba
AU - Irving-Pease, Evan K.
AU - Fischer, Anders
AU - Barrie, William
AU - Ingason, Andrés
AU - Stenderup, Jesper
AU - Sjögren, Karl-Göran
AU - Pearson, Alice
AU - Mota, Barbara
AU - Paulsson, Bettina Schulz
AU - Halgren, Alma
AU - Macleod, Ruairidh
AU - Schjellerup Jørkov, Marie Louise
AU - Demeter, Fabrice
AU - Novosolov, Maria
AU - Sørensen, Lasse
AU - Nielsen, Poul-Otto
AU - Henriksen, Rasmus H. A.
AU - Vimala, Tharsika
AU - McColl, Hugh
AU - Margaryan, Ashot
AU - Ilardo, Melissa
AU - Vaughn, Andrew
AU - Mortensen, Morten Fischer
AU - Nielsen, Anne Birgitte
AU - Hede, Mikkel Ulfeldt
AU - Rasmussen, Peter
AU - Vinner, Lasse
AU - Renaud, Gabriel
AU - Stern, Aaron
AU - Trolle Jensen, Theis Zetner
AU - Johannsen, Niels Nørkjær
AU - Scorrano, Gabriele
AU - Schroeder, Hannes
AU - Lysdahl, Per
AU - Ramsøe, Abigail Daisy
AU - Skorobogatov, Andrei
AU - Schork, Andrew Joseph
AU - Rosengren, Anders
AU - Ruter, Anthony
AU - Outram, Alan
AU - Timoshenko, Aleksey A.
AU - Buzhilova, Alexandra
AU - Coppa, Alfredo
AU - Zubova, Alisa
AU - Silva, Ana Maria
AU - Hansen, Anders J.
AU - Gromov, Andrey
AU - Logvin, Andrey
AU - Gotfredsen, Anne Birgitte
AU - Nielsen, Bjarne Henning
AU - González-Rabanal, Borja
AU - Lalueza-Fox, Carles
AU - McKenzie, Catriona J.
AU - Gaunitz, Charleen
AU - Blasco, Concepción
AU - Liesau, Corina
AU - Martinez-Labarga, Cristina
AU - Pozdnyakov, Dmitri V.
AU - Cuenca-Solana, David
AU - Lordkipanidze, David O.
AU - En’shin, Dmitri
AU - Salazar-García, Domingo C
AU - Price, T. Douglas
AU - Borić, Dušan
AU - Kostyleva, Elena
AU - Veselovskaya, Elizaveta V.
AU - Usmanova, Emma R.
AU - Cappellini, Enrico
AU - Petersen, Erik Brinch
AU - Kannegaard, Esben
AU - Radina, Francesca
AU - Yediay, Fulya Eylem
AU - Duday, Henri
AU - Gutiérrez-Zugasti, Igor
AU - Potekhina, Inna
AU - Shevnina, Irina
AU - Altinkaya, Isin
AU - Guilaine, Jean
AU - Hansen, Jesper
AU - Tortosa, Joan Emili Aura
AU - Zilhão, João
AU - Vega, Jorge
AU - Pedersen, Kristoffer Buck
AU - Tunia, Krzysztof
AU - Zhao, Lei
AU - Mylnikova, Liudmila N.
AU - Larsson, Lars
AU - Metz, Laure
AU - Yeppiskoposyan, Levon
AU - Pedersen, Lisbeth
AU - Sarti, Lucia
AU - Orlando, Ludovic
AU - Slimak, Ludovic
AU - Klassen, Lutz
AU - Blank, Malou
AU - González-Morales, Manuel
AU - Silvestrini, Mara
AU - Vretemark, Maria
AU - Nesterova, Marina S.
AU - Rykun, Marina
AU - Rolfo, Mario Federico
AU - Szmyt, Marzena
AU - Przybyła, Marcin
AU - Calattini, Mauro
AU - Sablin, Mikhail
AU - Dobisíková, Miluše
AU - Meldgaard, Morten
AU - Johansen, Morten
AU - Berezina, Natalia
AU - Card, Nick
AU - Saveliev, Nikolai A.
AU - Poshekhonova, Olga
AU - Rickards, Olga
AU - Lozovskaya, Olga V.
AU - Uldum, Otto Christian
AU - Aurino, Paola
AU - Kosintsev, Pavel
AU - Courtaud, Patrice
AU - Ríos, Patricia
AU - Mortensen, Peder
AU - Lotz, Per
AU - Persson, Per Åke
AU - Bangsgaard, Pernille
AU - Damgaard, Peter de Barros
AU - Petersen, Peter Vang
AU - Martinez, Pilar Prieto
AU - Włodarczak, Piotr
AU - Smolyaninov, Roman V.
AU - Maring, Rikke
AU - Menduiña, Roberto
AU - Badalyan, Ruben
AU - Iversen, Rune
AU - Turin, Ruslan
AU - Vasilyiev, Sergey
AU - Wåhlin, Sidsel
AU - Borutskaya, Svetlana
AU - Skochina, Svetlana
AU - Sørensen, Søren Anker
AU - Andersen, Søren H.
AU - Jørgensen, Thomas
AU - Serikov, Yuri B.
AU - Molodin, Vyacheslav I.
AU - Smrcka, Vaclav
AU - Merz, Victor
AU - Appadurai, Vivek
AU - Moiseyev, Vyacheslav
AU - Magnusson, Yvonne
AU - Kjær, Kurt H.
AU - Lynnerup, Niels
AU - Lawson, Daniel J.
AU - Sudmant, Peter H.
AU - Rasmussen, Simon
AU - Korneliussen, Thorfinn
AU - Durbin, Richard
AU - Nielsen, Rasmus
AU - Delaneau, Olivier
AU - Werge, Thomas
AU - Racimo, Fernando
AU - Kristiansen, Kristian
AU - Willerslev, Eske
PY - 2022
Y1 - 2022
N2 - The transitions from foraging to farming and later to pastoralism in Stone Age Eurasia (c. 11-3 thousand years before present, BP) represent some of the most dramatic lifestyle changes in human evolution. We sequenced 317 genomes of primarily Mesolithic and Neolithic individuals from across Eurasia combined with radiocarbon dates, stable isotope data, and pollen records. Genome imputation and co-analysis with previously published shotgun sequencing data resulted in >1600 complete ancient genome sequences offering fine-grained resolution into the Stone Age populations. We observe that: 1) Hunter-gatherer groups were more genetically diverse than previously known, and deeply divergent between western and eastern Eurasia. 2) We identify hitherto genetically undescribed hunter-gatherers from the Middle Don region that contributed ancestry to the later Yamnaya steppe pastoralists; 3) The genetic impact of the Neolithic transition was highly distinct, east and west of a boundary zone extending from the Black Sea to the Baltic. Large-scale shifts in genetic ancestry occurred to the west of this “Great Divide”, including an almost complete replacement of hunter-gatherers in Denmark, while no substantial ancestry shifts took place during the same period to the east. This difference is also reflected in genetic relatedness within the populations, decreasing substantially in the west but not in the east where it remained high until c. 4,000 BP; 4) The second major genetic transformation around 5,000 BP happened at a much faster pace with Steppe-related ancestry reaching most parts of Europe within 1,000-years. Local Neolithic farmers admixed with incoming pastoralists in eastern, western, and southern Europe whereas Scandinavia experienced another near-complete population replacement. Similar dramatic turnover-patterns are evident in western Siberia; 5) Extensive regional differences in the ancestry components involved in these early events remain visible to this day, even within countries. Neolithic farmer ancestry is highest in southern and eastern England while Steppe-related ancestry is highest in the Celtic populations of Scotland, Wales, and Cornwall (this research has been conducted using the UK Biobank resource); 6) Shifts in diet, lifestyle and environment introduced new selection pressures involving at least 21 genomic regions. Most such variants were not universally selected across populations but were only advantageous in particular ancestral backgrounds. Contrary to previous claims, we find that selection on the FADS regions, associated with fatty acid metabolism, began before the Neolithisation of Europe. Similarly, the lactase persistence allele started increasing in frequency before the expansion of Steppe-related groups into Europe and has continued to increase up to the present. Along the genetic cline separating Mesolithic hunter-gatherers from Neolithic farmers, we find significant correlations with trait associations related to skin disorders, diet and lifestyle and mental health status, suggesting marked phenotypic differences between these groups with very different lifestyles. This work provides new insights into major transformations in recent human evolution, elucidating the complex interplay between selection and admixture that shaped patterns of genetic variation in modern populations.Competing Interest StatementThe authors have declared no competing interest.
AB - The transitions from foraging to farming and later to pastoralism in Stone Age Eurasia (c. 11-3 thousand years before present, BP) represent some of the most dramatic lifestyle changes in human evolution. We sequenced 317 genomes of primarily Mesolithic and Neolithic individuals from across Eurasia combined with radiocarbon dates, stable isotope data, and pollen records. Genome imputation and co-analysis with previously published shotgun sequencing data resulted in >1600 complete ancient genome sequences offering fine-grained resolution into the Stone Age populations. We observe that: 1) Hunter-gatherer groups were more genetically diverse than previously known, and deeply divergent between western and eastern Eurasia. 2) We identify hitherto genetically undescribed hunter-gatherers from the Middle Don region that contributed ancestry to the later Yamnaya steppe pastoralists; 3) The genetic impact of the Neolithic transition was highly distinct, east and west of a boundary zone extending from the Black Sea to the Baltic. Large-scale shifts in genetic ancestry occurred to the west of this “Great Divide”, including an almost complete replacement of hunter-gatherers in Denmark, while no substantial ancestry shifts took place during the same period to the east. This difference is also reflected in genetic relatedness within the populations, decreasing substantially in the west but not in the east where it remained high until c. 4,000 BP; 4) The second major genetic transformation around 5,000 BP happened at a much faster pace with Steppe-related ancestry reaching most parts of Europe within 1,000-years. Local Neolithic farmers admixed with incoming pastoralists in eastern, western, and southern Europe whereas Scandinavia experienced another near-complete population replacement. Similar dramatic turnover-patterns are evident in western Siberia; 5) Extensive regional differences in the ancestry components involved in these early events remain visible to this day, even within countries. Neolithic farmer ancestry is highest in southern and eastern England while Steppe-related ancestry is highest in the Celtic populations of Scotland, Wales, and Cornwall (this research has been conducted using the UK Biobank resource); 6) Shifts in diet, lifestyle and environment introduced new selection pressures involving at least 21 genomic regions. Most such variants were not universally selected across populations but were only advantageous in particular ancestral backgrounds. Contrary to previous claims, we find that selection on the FADS regions, associated with fatty acid metabolism, began before the Neolithisation of Europe. Similarly, the lactase persistence allele started increasing in frequency before the expansion of Steppe-related groups into Europe and has continued to increase up to the present. Along the genetic cline separating Mesolithic hunter-gatherers from Neolithic farmers, we find significant correlations with trait associations related to skin disorders, diet and lifestyle and mental health status, suggesting marked phenotypic differences between these groups with very different lifestyles. This work provides new insights into major transformations in recent human evolution, elucidating the complex interplay between selection and admixture that shaped patterns of genetic variation in modern populations.Competing Interest StatementThe authors have declared no competing interest.
U2 - 10.1101/2022.05.04.490594
DO - 10.1101/2022.05.04.490594
M3 - Preprint
T3 - bioRxiv
SP - 1
EP - 71
BT - Population Genomics of Stone Age Eurasia
ER -