The selection landscape and genetic legacy of ancient Eurasians.
The selection landscape and genetic legacy of ancient Eurasians.
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DOI：
10.1038/s41586-023-06705-1
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发表时间：
2024-01
期刊：
影响因子：
64.8
通讯作者：
Willerslev, Eske
中科院分区：
文献类型：
--
作者：
Irving-Pease, Evan K.;Refoyo-Martinez, Alba;Barrie, William;Ingason, Andres;Pearson, Alice;Fischer, Anders;Sjoegren, Karl-Goeran;Halgren, Alma S.;Macleod, Ruairidh;Demeter, Fabrice;Henriksen, Rasmus A.;Vimala, Tharsika;Mccoll, Hugh;Vaughn, Andrew H.;Speidel, Leo;Stern, Aaron J.;Scorrano, Gabriele;Ramsoe, Abigail;Schork, Andrew J.;Rosengren, Anders;Zhao, Lei;Kristiansen, Kristian;Iversen, Astrid K. N.;Fugger, Lars;Sudmant, Peter H.;Lawson, Daniel J.;Durbin, Richard;Korneliussen, Thorfinn;Werge, Thomas;Allentoft, Morten E.;Sikora, Martin;Nielsen, Rasmus;Racimo, Fernando;Willerslev, Eske
全新世（大约12，000年前开始）包含了人类进化中一些最重要的变化，对当今人口的饮食，身体和精神健康产生了深远的影响。使用超过1，600个估算的古代基因组的数据集，我们模拟了从狩猎和采集到整个西欧亚大陆的农业和畜牧业过渡期间的选择景观。我们确定了与代谢相关的关键选择信号，包括FADS簇的选择比以前报道的更早开始，LCT位点附近的选择比乳糖酶持久性等位基因的出现早了数千年。我们还发现在HLA区域有很强的选择性，这可能是由于在青铜时代增加了对病原体的接触。使用古代个体来推断来自英国生物银行的40多万个样本中的当地祖先，我们发现了欧亚大陆中石器时代，新石器时代和青铜时代祖先分布的广泛差异。通过计算祖先特异性多基因风险分数，我们发现，北方和南欧之间的身高差异与不同的草原祖先，而不是选择，和情绪相关的表型的风险等位基因是丰富的新石器时代的农民祖先，而糖尿病和阿尔茨海默氏病的风险等位基因是丰富的西方狩猎采集祖先。我们的研究结果表明，古代的选择和迁移的表型多样性分布在今天的欧洲人的大贡献者。对估算的古代基因组和来自英国生物库的样本的分析表明，古代选择和迁移是当今欧洲人表型多样性分布的重要贡献者。
The Holocene (beginning around 12,000 years ago) encompassed some of the most significant changes in human evolution, with far-reaching consequences for the dietary, physical and mental health of present-day populations. Using a dataset of more than 1,600 imputed ancient genomes, we modelled the selection landscape during the transition from hunting and gathering, to farming and pastoralism across West Eurasia. We identify key selection signals related to metabolism, including that selection at the FADS cluster began earlier than previously reported and that selection near the LCT locus predates the emergence of the lactase persistence allele by thousands of years. We also find strong selection in the HLA region, possibly due to increased exposure to pathogens during the Bronze Age. Using ancient individuals to infer local ancestry tracts in over 400,000 samples from the UK Biobank, we identify widespread differences in the distribution of Mesolithic, Neolithic and Bronze Age ancestries across Eurasia. By calculating ancestry-specific polygenic risk scores, we show that height differences between Northern and Southern Europe are associated with differential Steppe ancestry, rather than selection, and that risk alleles for mood-related phenotypes are enriched for Neolithic farmer ancestry, whereas risk alleles for diabetes and Alzheimer’s disease are enriched for Western hunter-gatherer ancestry. Our results indicate that ancient selection and migration were large contributors to the distribution of phenotypic diversity in present-day Europeans. Analyses of imputed ancient genomes and of samples from the UK Biobank indicate that ancient selection and migration were large contributors to the distribution of phenotypic diversity in present-day Europeans.
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影响因子：
64.8
作者：
Bycroft C;Freeman C;Petkova D;Band G;Elliott LT;Sharp K;Motyer A;Vukcevic D;Delaneau O;O'Connell J;Cortes A;Welsh S;Young A;Effingham M;McVean G;Leslie S;Allen N;Donnelly P;Marchini J
通讯作者：
Marchini J
影响因子：
16.6
作者：
Gallois, Apolline;Mefford, Joel;Aschard, Hugues
通讯作者：
Aschard, Hugues
影响因子：
64.8
作者：
Allentoft, Morten E.;Sikora, Martin;Refoyo-Martinez, Alba;Irving-Pease, Evan K.;Fischer, Anders;Barrie, William;Ingason, Andres;Stenderup, Jesper;Sjoegren, Karl-Goeran;Pearson, Alice;Sousa da Mota, Barbara;Schulz Paulsson, Bettina;Halgren, Alma;Macleod, Ruairidh;Jorkov, Marie Louise Schjellerup;Demeter, Fabrice;Sorensen, Lasse;Nielsen, Poul Otto;Henriksen, Rasmus A.;Vimala, Tharsika;Mccoll, Hugh;Margaryan, Ashot;Ilardo, Melissa;Vaughn, Andrew;Fischer Mortensen, Morten;Nielsen, Anne Birgitte;Ulfeldt Hede, Mikkel;Johannsen, Niels Norkjaer;Rasmussen, Peter;Vinner, Lasse;Renaud, Gabriel;Stern, Aaron;Jensen, Theis Zetner Trolle;Scorrano, Gabriele;Schroeder, Hannes;Lysdahl, Per;Ramsoe, 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;Henning Nielsen, Bjarne;Gonzalez-Rabanal, Borja;Lalueza-Fox, Carles;Mckenzie, Catriona J.;Gaunitz, Charleen;Blasco, Concepcion;Liesau, Corina;Martinez-Labarga, Cristina;Pozdnyakov, Dmitri V.;Cuenca-Solana, David;Lordkipanidze, David O.;En'shin, Dmitri;Salazar-Garcia, Domingo C.;Price, T. Douglas;Boric, Dusan;Kostyleva, Elena;Veselovskaya, Elizaveta V.;Usmanova, Emma R.;Cappellini, Enrico;Brinch Petersen, Erik;Kannegaard, Esben;Radina, Francesca;Eylem Yediay, Fulya;Duday, Henri;Gutierrez-Zugasti, Igor;Merts, Ilya;Potekhina, Inna;Shevnina, Irina;Altinkaya, Isin;Guilaine, Jean;Hansen, Jesper;Aura Tortosa, Joan Emili;Zilhao, Joao;Vega, Jorge;Buck Pedersen, Kristoffer;Tunia, Krzysztof;Zhao, Lei;Mylnikova, Liudmila N.;Larsson, Lars;Metz, Laure;Yepiskoposyan, Levon;Pedersen, Lisbeth;Sarti, Lucia;Orlando, Ludovic;Slimak, Ludovic;Klassen, Lutz;Blank, Malou;Gonzalez-Morales, Manuel;Silvestrini, Mara;Vretemark, Maria;Nesterova, Marina S.;Rykun, Marina;Rolfo, Mario Federico;Szmyt, Marzena;Przybyla, Marcin;Calattini, Mauro;Sablin, Mikhail;Dobisikova, Miluse;Meldgaard, Morten;Johansen, Morten;Berezina, Natalia;Card, Nick;Saveliev, Nikolai A.;Poshekhonova, Olga;Rickards, Olga;Lozovskaya, Olga V.;Gabor, Oliver;Uldum, Otto Christian;Aurino, Paola;Kosintsev, Pavel;Courtaud, Patrice;Rios, Patricia;Mortensen, Peder;Lotz, Per;Persson, Per;Bangsgaard, Pernille;de Barros Damgaard, Peter;Vang Petersen, Peter;Martinez, Pilar Prieto;Wlodarczak, Piotr;Smolyaninov, Roman V.;Maring, Rikke;Menduina, Roberto;Badalyan, Ruben;Iversen, Rune;Turin, Ruslan;Vasilyev, Sergey;Wahlin, Sidsel;Borutskaya, Svetlana;Skochina, Svetlana;Sorensen, Soren Anker;Andersen, Soren H.;Jorgensen, Thomas;Serikov, Yuri B.;Molodin, Vyacheslav I.;Smrcka, Vaclav;Merts, Victor;Appadurai, Vivek;Moiseyev, Vyacheslav;Magnusson, Yvonne;Kjaer, Kurt H.;Lynnerup, Niels;Lawson, Daniel J.;Sudmant, Peter H.;Rasmussen, Simon;Korneliussen, Thorfinn Sand;Durbin, Richard;Nielsen, Rasmus;Delaneau, Olivier;Werge, Thomas;Racimo, Fernando;Kristiansen, Kristian;Willerslev, Eske
通讯作者：
Willerslev, Eske
影响因子：
14.9
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
通讯作者：
Parkinson, Helen
影响因子：
30.8
作者：
Enattah, NS;Sahi, T;Järvelä, I
通讯作者：
Järvelä, I