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1. Denisovan introgression has shaped the immune system of present-day Papuans

Author

Di Rienzo, A, Vespasiani, DM, Jacobs, GS, Cook, LE, Brucato, N, Leavesley, M, Kinipi, C, Ricaut, F-X, Cox, MP, Romero, IG, Di Rienzo, A, Vespasiani, DM, Jacobs, GS, Cook, LE, Brucato, N, Leavesley, M, Kinipi, C, Ricaut, F-X, Cox, MP, and Romero, IG

Abstract

Modern humans have admixed with multiple archaic hominins. Papuans, in particular, owe up to 5% of their genome to Denisovans, a sister group to Neanderthals whose remains have only been identified in Siberia and Tibet. Unfortunately, the biological and evolutionary significance of these introgression events remain poorly understood. Here we investigate the function of both Denisovan and Neanderthal alleles characterised within a set of 56 genomes from Papuan individuals. By comparing the distribution of archaic and non-archaic variants we assess the consequences of archaic admixture across a multitude of different cell types and functional elements. We observe an enrichment of archaic alleles within cis-regulatory elements and transcribed regions of the genome, with Denisovan variants strongly affecting elements active within immune-related cells. We identify 16,048 and 10,032 high-confidence Denisovan and Neanderthal variants that fall within annotated cis-regulatory elements and with the potential to alter the affinity of multiple transcription factors to their cognate DNA motifs, highlighting a likely mechanism by which introgressed DNA can impact phenotypes. Lastly, we experimentally validate these predictions by testing the regulatory potential of five Denisovan variants segregating within Papuan individuals, and find that two are associated with a significant reduction of transcriptional activity in plasmid reporter assays. Together, these data provide support for a widespread contribution of archaic DNA in shaping the present levels of modern human genetic diversity, with different archaic ancestries potentially affecting multiple phenotypic traits within non-Africans.

Published
2022

3. Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Author

Raveane, A, Aneli, S, Montinaro, F, Athanasiadis, G, Barlera, S, Birolo, G, Boncoraglio, G, Di Blasio, A, Di Gaetano, C, Pagani, L, Parolo, S, Paschou, P, Piazza, A, Stamatoyannopoulos, G, Angius, A, Brucato, N, Cucca, F, Hellenthal, G, Mulas, A, Peyret-Guzzon, M, Zoledziewska, M, Baali, A, Bycroft, C, Cherkaoui, M, Chiaroni, J, Di Cristofaro, J, Dina, C, Dugoujon, J, Galan, P, Giemza, J, Kivisild, T, Mazieres, S, Melhaoui, M, Metspalu, M, Myers, S, Pereira, L, Ricaut, F, Brisighelli, F, Cardinali, I, Grugni, V, Lancioni, H, Pascali, V, Torroni, A, Semino, O, Matullo, G, Achilli, A, Olivieri, A, Capelli, C, Raveane A., Aneli S., Montinaro F., Athanasiadis G., Barlera S., Birolo G., Boncoraglio G., Di Blasio A. M., Di Gaetano C., Pagani L., Parolo S., Paschou P., Piazza A., Stamatoyannopoulos G., Angius A., Brucato N., Cucca F., Hellenthal G., Mulas A., Peyret-Guzzon M., Zoledziewska M., Baali A., Bycroft C., Cherkaoui M., Chiaroni J., Di Cristofaro J., Dina C., Dugoujon J. M., Galan P., Giemza J., Kivisild T., Mazieres S., Melhaoui M., Metspalu M., Myers S., Pereira L., Ricaut F. X., Brisighelli F., Cardinali I., Grugni V., Lancioni H., Pascali V. L., Torroni A., Semino O., Matullo G., Achilli A., Olivieri A., Capelli C., Raveane, A, Aneli, S, Montinaro, F, Athanasiadis, G, Barlera, S, Birolo, G, Boncoraglio, G, Di Blasio, A, Di Gaetano, C, Pagani, L, Parolo, S, Paschou, P, Piazza, A, Stamatoyannopoulos, G, Angius, A, Brucato, N, Cucca, F, Hellenthal, G, Mulas, A, Peyret-Guzzon, M, Zoledziewska, M, Baali, A, Bycroft, C, Cherkaoui, M, Chiaroni, J, Di Cristofaro, J, Dina, C, Dugoujon, J, Galan, P, Giemza, J, Kivisild, T, Mazieres, S, Melhaoui, M, Metspalu, M, Myers, S, Pereira, L, Ricaut, F, Brisighelli, F, Cardinali, I, Grugni, V, Lancioni, H, Pascali, V, Torroni, A, Semino, O, Matullo, G, Achilli, A, Olivieri, A, Capelli, C, Raveane A., Aneli S., Montinaro F., Athanasiadis G., Barlera S., Birolo G., Boncoraglio G., Di Blasio A. M., Di Gaetano C., Pagani L., Parolo S., Paschou P., Piazza A., Stamatoyannopoulos G., Angius A., Brucato N., Cucca F., Hellenthal G., Mulas A., Peyret-Guzzon M., Zoledziewska M., Baali A., Bycroft C., Cherkaoui M., Chiaroni J., Di Cristofaro J., Dina C., Dugoujon J. M., Galan P., Giemza J., Kivisild T., Mazieres S., Melhaoui M., Metspalu M., Myers S., Pereira L., Ricaut F. X., Brisighelli F., Cardinali I., Grugni V., Lancioni H., Pascali V. L., Torroni A., Semino O., Matullo G., Achilli A., Olivieri A., and Capelli C.

Abstract

European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non-steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.

Published
2019

4. Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul

Author

Ávila-Arcos, MC, Brucato, N, Andre, M, Tsang, R, Saag, L, Kariwiga, J, Sesuki, K, Beni, T, Pomat, W, Muke, J, Meyer, V, Boland, A, Deleuze, J-F, Sudoyo, H, Mondal, M, Pagani, L, Romero, IG, Metspalu, M, Cox, MP, Leavesley, M, Ricaut, F-X, Ávila-Arcos, MC, Brucato, N, Andre, M, Tsang, R, Saag, L, Kariwiga, J, Sesuki, K, Beni, T, Pomat, W, Muke, J, Meyer, V, Boland, A, Deleuze, J-F, Sudoyo, H, Mondal, M, Pagani, L, Romero, IG, Metspalu, M, Cox, MP, Leavesley, M, and Ricaut, F-X

Abstract

The settlement of Sahul, the lost continent of Oceania, remains one of the most ancient and debated human migrations. Modern New Guineans inherited a unique genetic diversity tracing back 50,000 years, and yet there is currently no model reconstructing their past population dynamics. We generated 58 new whole-genome sequences from Papua New Guinea, filling geographical gaps in previous sampling, specifically to address alternative scenarios of the initial migration to Sahul and the settlement of New Guinea. Here, we present the first genomic models for the settlement of northeast Sahul considering one or two migrations from Wallacea. Both models fit our data set, reinforcing the idea that ancestral groups to New Guinean and Indigenous Australians split early, potentially during their migration in Wallacea where the northern route could have been favored. The earliest period of human presence in Sahul was an era of interactions and gene flow between related but already differentiated groups, from whom all modern New Guineans, Bismarck islanders, and Indigenous Australians descend. The settlement of New Guinea was probably initiated from its southeast region, where the oldest archaeological sites have been found. This was followed by two migrations into the south and north lowlands that ultimately reached the west and east highlands. We also identify ancient gene flows between populations in New Guinea, Australia, East Indonesia, and the Bismarck Archipelago, emphasizing the fact that the anthropological landscape during the early period of Sahul settlement was highly dynamic rather than the traditional view of extensive isolation.

Published
2021

7. Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Author

Raveane, A., primary, Aneli, S., additional, Montinaro, F., additional, Athanasiadis, G., additional, Barlera, S., additional, Birolo, G., additional, Boncoraglio, G., additional, Di Blasio, A. M., additional, Di Gaetano, C., additional, Pagani, L., additional, Parolo, S., additional, Paschou, P., additional, Piazza, A., additional, Stamatoyannopoulos, G., additional, Angius, A., additional, Brucato, N., additional, Cucca, F., additional, Hellenthal, G., additional, Mulas, A., additional, Peyret-Guzzon, M., additional, Zoledziewska, M., additional, Baali, A., additional, Bycroft, C., additional, Cherkaoui, M., additional, Chiaroni, J., additional, Di Cristofaro, J., additional, Dina, C., additional, Dugoujon, J. M., additional, Galan, P., additional, Giemza, J., additional, Kivisild, T., additional, Mazieres, S., additional, Melhaoui, M., additional, Metspalu, M., additional, Myers, S., additional, Pereira, L., additional, Ricaut, F. X., additional, Brisighelli, F., additional, Cardinali, I., additional, Grugni, V., additional, Lancioni, H., additional, Pascali, V. L., additional, Torroni, A., additional, Semino, O., additional, Matullo, G., additional, Achilli, A., additional, Olivieri, A., additional, and Capelli, C., additional

Published
2019
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9. Multiple Deeply Divergent Denisovan Ancestries in Papuans

Author

Jacobs, G. S., Hudjashov, G., Saag, L., Kusuma, P., Darusallam, C. C., Lawson, D. J., Mondal, M., Pagani, L., Ricaut, F. -X, Stoneking, M., Metspalu, M., Sudoyo, H., Lansing, J. Stephen, Cox, M. P., Jacobs, G. S., Hudjashov, G., Saag, L., Kusuma, P., Darusallam, C. C., Lawson, D. J., Mondal, M., Pagani, L., Ricaut, F. -X, Stoneking, M., Metspalu, M., Sudoyo, H., Lansing, J. Stephen, and Cox, M. P.

Abstract

Genome sequences are known for two archaic hominins—Neanderthals and Denisovans—which interbred with anatomically modern humans as they dispersed out of Africa. We identified high-confidence archaic haplotypes in 161 new genomes spanning 14 island groups in Island Southeast Asia and New Guinea and found large stretches of DNA that are inconsistent with a single introgressing Denisovan origin. Instead, modern Papuans carry hundreds of gene variants from two deeply divergent Denisovan lineages that separated over 350 thousand years ago. Spatial and temporal structure among these lineages suggest that introgression from one of these Denisovan groups predominantly took place east of the Wallace line and continued until near the end of the Pleistocene. A third Denisovan lineage occurs in modern East Asians. This regional mosaic suggests considerable complexity in archaic contact, with modern humans interbreeding with multiple Denisovan groups that were geographically isolated from each other over deep evolutionary time.

Published
2019
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10. Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Author

Raveane, A., Aneli, S., Montinaro, F., Athanasiadis, G., Barlera, S., Birolo, G., Boncoraglio, G., Di Blasio, A. M., Di Gaetano, C., Pagani, L., Parolo, S., Paschou, P., Piazza, A., Stamatoyannopoulos, G., Angius, A., Brucato, N., Cucca, F., Hellenthal, G., Mulas, A., Peyret-Guzzon, M., Zoledziewska, M., Baali, A., Bycroft, C., Cherkaoui, M., Chiaroni, J., Di Cristofaro, J., Dina, C., Dugoujon, J. M., Galan, P., Giemza, J., Kivisild, T., Mazieres, S., Melhaoui, M., Metspalu, M., Myers, S., Pereira, L., Ricaut, F. X., Brisighelli, Francesca, Cardinali, I., Grugni, V., Lancioni, H., Pascali, Vincenzo Lorenzo, Torroni, A., Semino, O., Matullo, G., Achilli, A., Olivieri, A., Capelli, C., Brisighelli F. (ORCID:0000-0001-5469-4413), Pascali V. L. (ORCID:0000-0001-6520-5224), Raveane, A., Aneli, S., Montinaro, F., Athanasiadis, G., Barlera, S., Birolo, G., Boncoraglio, G., Di Blasio, A. M., Di Gaetano, C., Pagani, L., Parolo, S., Paschou, P., Piazza, A., Stamatoyannopoulos, G., Angius, A., Brucato, N., Cucca, F., Hellenthal, G., Mulas, A., Peyret-Guzzon, M., Zoledziewska, M., Baali, A., Bycroft, C., Cherkaoui, M., Chiaroni, J., Di Cristofaro, J., Dina, C., Dugoujon, J. M., Galan, P., Giemza, J., Kivisild, T., Mazieres, S., Melhaoui, M., Metspalu, M., Myers, S., Pereira, L., Ricaut, F. X., Brisighelli, Francesca, Cardinali, I., Grugni, V., Lancioni, H., Pascali, Vincenzo Lorenzo, Torroni, A., Semino, O., Matullo, G., Achilli, A., Olivieri, A., Capelli, C., Brisighelli F. (ORCID:0000-0001-5469-4413), and Pascali V. L. (ORCID:0000-0001-6520-5224)

Abstract

European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non-steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.

Published
2019

11. Les cimetières du haut Moyen Âge en Languedoc

Author

Aguerre, M., Barthélémy, I., Bessou (†), M., Bruzek, Y., Catafau, A., Cazes, J.-P., Crubézy, É., D.Rougé, Duchesne, S., Duhamel, Ch., Dupouey, P., Gaury, P., Guyon, J., Martin, A., Morel, L., Murail, P., Raynaud, Cl., Ricaut, F.-X., Romon, T., Rougé, D., Sainte-Marie, S., and Vidal, M.

Subjects
moyen-age, archéologie, History & Archaeology, Languedoc, Moyen-âge, HIS013000, espace funéraire, cimetières, HBJD
Published
2015

12. A recent bottleneck of Y chromosome diversity coincides with a global change in culture

Author

Karmin M., Saag L., Vicente M., Wilson Sayres M., Järve M., Talas U., Rootsi S., Ilumäe A., Mägi R., Mitt M., Pagani L., Puurand T., Faltyskova Z., Clemente F., Cardona A., Metspalu E., Sahakyan H., Yunusbayev B., Hudjashov G., DeGiorgio M., Loogväli E., Eichstaedt C., Eelmets M., Chaubey G., Tambets K., Litvinov S., Mormina M., Xue Y., Ayub Q., Zoraqi G., Korneliussen T., Akhatova F., Lachance J., Tishkoff S., Momynaliev K., Ricaut F., Kusuma P., Razafindrazaka H., Pierron D., Cox M., Sultana G., Willerslev R., Muller C., Westaway M., Lambert D., Skaro V., Kovačević L., Turdikulova S., Dalimova D., Khusainova R., Trofimova N., Akhmetova V., Khidiyatova I., Lichman D., Isakova J., Pocheshkhova E., Sabitov Z., Barashkov N., Nymadawa P., Mihailov E., Seng J., Evseeva I., Migliano A., Abdullah S., Andriadze G., Primorac D., Atramentova L., Utevska O., Yepiskoposyan L., Marjanović D., Kushniarevich A., and Behar D.

Abstract

© 2015 Karmin et al. It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, we date the Y-chromosomal most recent common ancestor (MRCA) in Africa at 254 (95% CI 192-307) kya and detect a cluster of major non-African founder haplogroups in a narrow time interval at 47-52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.

Published
2015

13. Contrasting Linguistic and Genetic Origins of the Asian Source Populations of Malagasy

Author

Kusuma, P, Brucato, N, Cox, MP, Pierron, D, Razafindrazaka, H, Adelaar, A, Sudoyo, H, Letellier, T, Ricaut, F-X, Kusuma, P, Brucato, N, Cox, MP, Pierron, D, Razafindrazaka, H, Adelaar, A, Sudoyo, H, Letellier, T, and Ricaut, F-X

Abstract

The Austronesian expansion, one of the last major human migrations, influenced regions as distant as tropical Asia, Remote Oceania and Madagascar, off the east coast of Africa. The identity of the Asian groups that settled Madagascar is particularly mysterious. While language connects Madagascar to the Ma'anyan of southern Borneo, haploid genetic data are more ambiguous. Here, we screened genome-wide diversity in 211 individuals from the Ma'anyan and surrounding groups in southern Borneo. Surprisingly, the Ma'anyan are characterized by a distinct, high frequency genomic component that is not found in Malagasy. This novel genetic layer occurs at low levels across Island Southeast Asia and hints at a more complex model for the Austronesian expansion in this region. In contrast, Malagasy show genomic links to a range of Island Southeast Asian groups, particularly from southern Borneo, but do not have a clear genetic connection with the Ma'anyan despite the obvious linguistic association.

Published
2016

14. Malagasy Genetic Ancestry Comes from an Historical Malay Trading Post in Southeast Borneo

Author

Brucato, N, Kusuma, P, Cox, MP, Pierron, D, Purnomo, GA, Adelaar, A, Kivisild, T, Letellier, T, Sudoyo, H, Ricaut, F-X, Brucato, N, Kusuma, P, Cox, MP, Pierron, D, Purnomo, GA, Adelaar, A, Kivisild, T, Letellier, T, Sudoyo, H, and Ricaut, F-X

Abstract

Malagasy genetic diversity results from an exceptional protoglobalization process that took place over a thousand years ago across the Indian Ocean. Previous efforts to locate the Asian origin of Malagasy highlighted Borneo broadly as a potential source, but so far no firm source populations were identified. Here, we have generated genome-wide data from two Southeast Borneo populations, the Banjar and the Ngaju, together with published data from populations across the Indian Ocean region. We find strong support for an origin of the Asian ancestry of Malagasy among the Banjar. This group emerged from the long-standing presence of a Malay Empire trading post in Southeast Borneo, which favored admixture between the Malay and an autochthonous Borneo group, the Ma'anyan. Reconciling genetic, historical, and linguistic data, we show that the Banjar, in Malay-led voyages, were the most probable Asian source among the analyzed groups in the founding of the Malagasy gene pool.

Published
2016

15. mtDNA variation in the Buryat population of the Barguzin Valley: New insights into the micro-evolutionary history of the Baikal area

Author

Gibert, A., Theves, C., Ricaut, F., Dambueva, I., Bazarov, B., Moral, M, Crubezy, E., Perrucho, M., Felix-Sanchez, M., Sevin, A., Gibert, M., Moral, P., Anthropologie Moléculaire et Imagerie de Synthèse (AMIS), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Institute of General and Experimental Biology, Siberian Branch of the Russian Academy of Sciences (SB RAS), Institute of Mongolian, Buddhist and Tibetan Studies, Instituto Universitario de Investigacion de Nanocienca de Aragon, University of Zaragoza - Universidad de Zaragoza [Zaragoza], Centre National de la Recherche Scientifique (CNRS), University of Geneva [Switzerland], Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées

Subjects
0106 biological sciences, Aging, Mitochondrial DNA, Physiology, Epidemiology, Population, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Sample (statistics), mitochondrial DNA, Biology, DNA, Mitochondrial, 010603 evolutionary biology, 01 natural sciences, Evolution, Molecular, 03 medical and health sciences, Ethnicity, Genetics, Humans, Local population, Genetic variability, education, Phylogeny, Demography, 030304 developmental biology, 0303 health sciences, education.field_of_study, Base Sequence, Geography, Phylogenetic tree, mongol, Public Health, Environmental and Occupational Health, Genetic Variation, North-western buryat, Gene Pool, Siberia, Genetics, Population, Haplotypes, Evolutionary biology, Sample Size, [SDE]Environmental Sciences, admixture, turkic–tungusic speakers, Restriction fragment length polymorphism
Abstract

International audience; BACKGROUND: Southern Siberian populations, including the Buryat, have been of great interest in investigating the exchanges between Eastern and Western Eurasia and understanding the peopling of Siberia and the New World. AIM: Previous studies mainly employed a phylogenetic approach, and thus used pooled samples to detect a maximum of variability. As different sampling strategies may result in different pictures of a population's evolutionary history, we proposed in this study to focus on a local Buryat population selected on the basis of geographical, archaeological and ethno-historical data. SUBJECTS AND METHODS: This study investigated a local population from the Barguzin Valley, on the north-western shores of Lake Baikal identified as the most likely place of Buryat origin. We analysed mitochondrial DNA (mtDNA) RFLPs markers, HVS-I and HVS-II sequences to discuss the genetic variability of this population, and to compare our local sample with pooled Buryat samples and neighbouring Siberian populations. RESULTS: The Barguzin Buryat sample shows depressed neutrality scores compared to the pooled Buryat sample, and different genetic affinities with the Mongol and Turco-Evenk populations. CONCLUSION: These results underline the need to use local samples, in addition to pooled samples, to investigate the history of human populations at the micro-evolutionary level.

Published
2010
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16. Ancient DNA analysis of human Neolithic remains found in northeastern Siberia

Author

Ricaut, F. X., Fedoseeva, A., Keyser-Tracqui, C., Eric Crubézy, Ludes, B., Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, [SDE.ES]Environmental Sciences/Environmental and Society, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2005

17. Genetic analysis and ethnic affinities from two Scytho-Siberian skeletons

Author

Ricaut, F. X., Keyser-Tracqui, C., Cammaert, L., Eric Crubézy, Ludes, B., Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Department of Paleontology, Royal Belgian Institute of Natural Sciences (RBINS), and Institut de Médecine Légale - IML (Paris, France)

Subjects
Adult, Male, Asia, Polymorphism, Genetic, Fossils, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Genetic Variation, Paleontology, [SDE.ES]Environmental Sciences/Environmental and Society, DNA, Mitochondrial, humanities, Asian People, Tandem Repeat Sequences, Child, Preschool, Ethnicity, Humans, ComputingMilieux_MISCELLANEOUS, Skeleton
Abstract

International audience; We extracted DNA from two skeletons belonging to the Sytho-Siberian population, which were excavated from the Sebÿstei site (dating back 2,500 years) in the Altai Republic (Central Asia). Ancient DNA was analyzed by autosomal short tandem repeats (STRs) and by the sequencing of the hypervariable region 1 (HV1) of the mitochondrial DNA (mtDNA) control region. The results showed that these two skeletons were not close relatives. Moreover, their haplogroups were characteristic of Asian populations. Comparison with the haplogroup of 3,523 Asian and American individuals linked one skeleton with a putative ancestral paleo-Asiatic population and the other with Chinese populations. It appears that the genetic study of ancient populations of Central Asia brings important elements to the understanding of human population movements in Asia.

Published
2004
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18. SNP analysis of a 2300 year old Xiongnu population. Does the Tat polymorphism originate in northern Mongolia?

Author

Keyser-Tracqui, C., Blandin, P., Ricaut, F. X., Petkovski, E., Eric Crubézy, Ludes, B., Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, [SDE.ES]Environmental Sciences/Environmental and Society, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2004

19. Genetic analysis of a Scytho-Siberian skeleton and its implication in ancient central Asian migrations

Author

Ricaut, F. X., Keyser-Tracqui, C., Bourgeois, J., Eric Crubézy, Ludes, B., Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, [SDE.ES]Environmental Sciences/Environmental and Society, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2004

20. I. Présentation des sites

Author

Guyon, J., primary, Vidal, M., additional, Duhamel, Ch., additional, Cazes, J.-P., additional, Barthélémy, I., additional, Ricaut, F.-X., additional, Dupouey, P., additional, Martin, A., additional, Duchesne, S., additional, Bessou (†), M., additional, Raynaud, Cl., additional, and Murail, P., additional

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21. An Aboriginal Australian genome reveals separate human dispersals into Asia

Author

Rasmussen, M., Guo, X., Wang, Y., Lohmueller, K.E., Rasmussen, S., Albrechtsen, A., Skotte, L., Lindgreen, S., Metspalu, M., Jombart, T., Kivisild, T., Zhai, W., Eriksson, A., Manica, A., Orlando, L., De La Vega, F.M., Tridico, S., Metspalu, E., Nielsen, K., Avila-Arcos, M.C., Moreno-Mayar, J.V., Muller, C., Dortch, J., Gilbert, M.T.P., Lund, O., Wesolowska, A., Karmin, M., Weinert, L.A., Wang, B., Li, J., Tai, S., Xiao, F., Hanihara, T., van Driem, G., Jha, A.R., Ricaut, F-X., de Knijff, P., Migliano, A.B., Gallego Romero, I., Kristiansen, K., Lambert, D.M., Brunak, S., Forster, P., Brinkmann, B., Nehlich, O., Bunce, M., Richards, M., Gupta, R., Bustamante, C.D., Krogh, A., Foley, R.A., Lahr, M.M., Balloux, F., Sicheritz-Ponten, T., Villems, R., Nielsen, R., Wang, J., Willerslev, E., Rasmussen, M., Guo, X., Wang, Y., Lohmueller, K.E., Rasmussen, S., Albrechtsen, A., Skotte, L., Lindgreen, S., Metspalu, M., Jombart, T., Kivisild, T., Zhai, W., Eriksson, A., Manica, A., Orlando, L., De La Vega, F.M., Tridico, S., Metspalu, E., Nielsen, K., Avila-Arcos, M.C., Moreno-Mayar, J.V., Muller, C., Dortch, J., Gilbert, M.T.P., Lund, O., Wesolowska, A., Karmin, M., Weinert, L.A., Wang, B., Li, J., Tai, S., Xiao, F., Hanihara, T., van Driem, G., Jha, A.R., Ricaut, F-X., de Knijff, P., Migliano, A.B., Gallego Romero, I., Kristiansen, K., Lambert, D.M., Brunak, S., Forster, P., Brinkmann, B., Nehlich, O., Bunce, M., Richards, M., Gupta, R., Bustamante, C.D., Krogh, A., Foley, R.A., Lahr, M.M., Balloux, F., Sicheritz-Ponten, T., Villems, R., Nielsen, R., Wang, J., and Willerslev, E.

Abstract

We present an Aboriginal Australian genomic sequence obtained from a 100-year-old lock of hair donated by an Aboriginal man from southern Western Australia in the early 20th century. We detect no evidence of European admixture and estimate contamination levels to be below 0.5%. We show that Aboriginal Australians are descendants of an early human dispersal into eastern Asia, possibly 62,000 to 75,000 years ago. This dispersal is separate from the one that gave rise to modern Asians 25,000 to 38,000 years ago. We also find evidence of gene flow between populations of the two dispersal waves prior to the divergence of Native Americans from modern Asian ancestors. Our findings support the hypothesis that present-day Aboriginal Australians descend from the earliest humans to occupy Australia, likely representing one of the oldest continuous populations outside Africa.

Published
2011

23. Inhumation and cremation in medieval Mongolia: analysis and analogy

Author

Eric Crubézy, Ricaut, F. X., Erdenebaatar, S., Coqueugnot, H., Maureille, B., Giscard, P. H., Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Leverhulme Centre of Human Evolutionary Studies, University of Cambridge [UK] (CAM), Institut d'Histoire de l'Académie des Sciences de Mongolie, Département d'Archéologie, De la Préhistoire à l'Actuel : Culture, Environnement et Anthropologie (PACEA), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut des Déserts, and 76 rue d'Assas, 75006 Paris

Subjects
Genghis Khan period, cremation, burial, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Mongolia, Egyin Gol, funeral practices
Abstract

International audience; The authors study burials of the medieval period in westernMongolia shortly before the emergence of Genghis Khan. They find that both inhumation and cremation are practised, with a variety of accompanying rituals. Systematic micro-analysis of bone fragments on the one hand, and the accounts of early travellers on the other, allow these researchers to propose detailed explanations of mortuary practice in thirteenth century Altai that will be highly suggestive to prehistorians working elsewhere.

24. STR-genotyping from human medieval tooth and bone samples

Author

Ricaut, F. X., Keyser-Tracqui, C., Eric Crubézy, Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, [SDE.ES]Environmental Sciences/Environmental and Society, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

25. Genomic evidence for the Pleistocene and recent population history of Native Americans

Author

Raghavan, M., Steinrücken, M, Harris, M, Schiffels, Stephan, DeGiorgio, Michael, Albrechtsen, M, Valdiosera, M, Ávila-Arcos, M, Malaspinas, M, Eriksson, Anders, Moltke, M, Homburger, M, Wall, Jeff, Cornejo, Omar, Moreno-Mayar, M, Korneliussen, M, Pierre, M, Rasmussen, Rasmus, Campos, Paul, de Barros Damgaard, Peter, Allentoft, M., Lindo, John, Metspalu, M., Rodríguez-Varela, Carlos, Mansilla, M, Henrickson, Celeste, Seguin-Orlando, M, Malmström, M, Stafford, M, Shringarpure, M, Moreno-Estrada, M, Karmin, M., Tambets, Kristiina, Bergström, Anders, Xue, Yali, Vera, Vera, Friend, Andrew, Singarayer, M, Valdes, Paul, Balloux, François, Leboreiro, M, Vera, M, Rangel-Villalobos, M, Pettener, David, Luiselli, Donata, Davis, Loren, Heyer, M, Zollikofer, Chris, Ponce de León, M, Smith, M, Grimes, John, Pike, John, Deal, John, Fuller, M, Arriaza, Bernardo, Standen, Vivien, Luz, M., Ricaut, M, Guidon, M, Osipova, Ludmila, Voevoda, M., Posukh, Olga, Balanovsky, M, Lavryashina, M., Bogunov, M, Khusnutdinova, M, Gubina, M., Balanovska, M, Fedorova, M, Litvinov, Sergey, Malyarchuk, M, Derenko, M., Mosher, M., Archer, David, Cybulski, Jerome, Petzelt, Barbara, Mitchell, Joycelynn, Worl, Rosita, Norman, Paul, Parham, Peter, Kemp, Brian, Kivisild, Toomas, Smith, Chris, Sandhu, Manjinder, Crawford, Michael, Villems, Richard, Smith, David, Waters, Michael, Goebel, Ted, Johnson, John, Malhi, Ripan, Jakobsson, Mattias, Meltzer, David, Manica, Andrea, Durbin, Richard, Bustamante, Carlos, Song, Yun, Nielsen, Rasmus, Willerslev, Eske, Steinrucken, M., Harris, K., Rasmussen, S., Albrechtsen, A., Valdiosera, C., Avila-Arcos, M., Malaspinas, S., Moltke, I., Homburger, J., Moreno-Mayar, J., Korneliussen, S., Pierre, T., Rasmussen, M., Damgaard, P., Metspalu, E., Rodriguez-Varela, R., Mansilla, J., Seguin-Orlando, A., Malmstrom, H., Stafford, T., Shringarpure, S., Moreno-Estrada, A., Bergstrom, A., Warmuth, V., Singarayer, J., Leboreiro, I., Vera, J., Rangel-Villalobos, H., Heyer, E., Ponce De Leon, M., Grimes, V., Pike, K., Deal, M., Fuller, T., Ricaut, F., Guidon, N., Balanovsky, O., Bogunov, Y., Khusnutdinova, E., Balanovska, E., Fedorova, S., Malyarchuk, B., Norman, J., Kemp, M., Malhi, S., Meltzer, J., Song, S., Swedish Institute of Space Physics [Uppsala] (IRF), Institut de Recherche sur le Cancer et le Vieillissement (IRCAN), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Human Evolution, The Wellcome Trust Sanger Institute [Cambridge], Centre National de la Recherche Scientifique (CNRS), School of Geographical Sciences [Bristol], University of Bristol [Bristol], University of Edinburgh, University of Bologna, Universidad de Tarapaca, Institute of Cytology and Genetics, Russian Academy of Sciences [Moscow] (RAS), School of Health Science, Higher Education Centre Novo mesto, Departments of Chemistry and of Structural Biology, Stanford University, Department of Anthropology, Washington State University (WSU), Leverhulme Centre for Human Evolutionary Studies University of Cambridge, University of Cambridge [UK] (CAM), Centre for Cybercrime and Computer Security [Newcastle], School of Computing Science [Newcastle], Newcastle University [Newcastle]-Newcastle University [Newcastle], Strangeways Research Laboratory, MRC, UMR 6578 : Anthropologie Bio-Culturelle (UAABC), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), Harvard Medical School [Boston] (HMS), Evolutionary Biology, Uppsala University, Department of Biological Statistics and Computational Biology, Cornell University [New York], Dept Integrat Biol, Section for GeoGenetics, Globe Institute, Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU)-Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), Eco-Anthropologie et Ethnobiologie (EAE), Muséum national d'Histoire naturelle (MNHN)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Department of Nuclear Medicine, Austin Health-Centre for Positron Emission Tomography (PET)-Austin Hospital [Melbourne], Austin Health, Laboratoire d'études spatiales et d'instrumentation en astrophysique (LESIA (UMR_8109)), Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Fundaçao Museu do Homem Americano (FUMDHAM), Department of Mechanical Engineering, Sogang University, parent, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA), Stanford University [Stanford], UMR 6578 : Adaptabilité Biologique et Culturelle (UAABC), Cornell University, PSL Research University (PSL)-PSL Research University (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Raghavan, Maanasa, Steinrücken, Matthia, Harris, Kelley, Schiffels, Stephan, Rasmussen, Simon, Degiorgio, Michael, Albrechtsen, Ander, Valdiosera, Cristina, Ávila-Arcos, María C., Malaspinas, Anna-Sapfo, Eriksson, Ander, Moltke, Ida, Metspalu, Mait, Homburger, Julian R., Wall, Jeff, Cornejo, Omar E., Moreno-Mayar, J. Víctor, Korneliussen, Thorfinn S., Pierre, Tracey, Rasmussen, Morten, Campos, Paula F., De Barros Damgaard, Peter, Allentoft, Morten E., Lindo, John, Metspalu, Ene, Rodríguez-Varela, Ricardo, Mansilla, Josefina, Henrickson, Celeste, Seguin-Orlando, Andaine, Malmstöm, Helena, Stafford, Thoma, Shringarpure, Suyash S., Moreno-Estrada, André, Karmin, Monika, Tambets, Kristiina, Bergström, Ander, Xue, Yali, Warmuth, Vera, Friend, Andrew D., Singarayer, Joy, Valdes, Paul, Balloux, Francoi, Leboreiro, Ilán, Vera, Jose Lui, Rangel-Villalobos, Hector, Pettener, Davide, Luiselli, Donata, Davis, Loren G., Heyer, Evelyne, Zollikofer, Christoph P. E., Ponce De León, Marcia S., Smith, Colin I., Grimes, Vaughan, Pike, Kelly-Anne, Deal, Michael, Fuller, Benjamin T., Arriaza, Bernardo, Standen, Vivien, Luz, Maria F., Ricaut, Francoi, Guidon, Niede, Osipova, Ludmila, Voevoda, Mikhail I., Posukh, Olga L., Balanovsky, Oleg, Lavryashina, Maria, Bogunov, Yuri, Khusnutdinova, Elza, Gubina, Marina, Balanovska, Elena, Fedorova, Sardana, Litvinov, Sergey, Malyarchuk, Bori, Derenko, Miroslava, Mosher, M.J., Archer, David, Cybulski, Jerome, Petzelt, Barbara, Mitchell, Joycelynn, Worl, Rosita, Norman, Paul J., Parham, Peter, Kemp, Brian M., Kivisild, Tooma, Tyler-Smith, Chri, Sandhu, Manjinder S., Crawford, Michael, Villems, Richard, Smith, David Glenn, Waters, Michael R., Goebel, Ted, Johnson, John R., Malhi, Ripan S., Jakobsson, Mattia, Meltzer, David J., Manica, Andrea, Durbin, Richard, Bustamante, Carlos D., Song, Yun S., Nielsen, Rasmu, Willerslev, Eske, Université Nice Sophia Antipolis (1965 - 2019) (UNS), University of Bologna/Università di Bologna, University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH)-Faculty of Health and Medical Sciences, and University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH)

Subjects
ARCHAEOLOGICAL SEQUENCE, Gene Flow, Pleistocene, CRANIAL MORPHOLOGY, CLOVIS, MIGRATION, Human Migration, Population, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Population genetics, NEW-WORLD, America, Biology, Beringia, Gene flow, SOUTH-AMERICA, 03 medical and health sciences, 0601 history and archaeology, education, History, Ancient, 030304 developmental biology, 0303 health sciences, education.field_of_study, CONDITIONAL SAMPLING DISTRIBUTION, Multidisciplinary, 060102 archaeology, Models, Genetic, Human migration, business.industry, Medicine (all), 06 humanities and the arts, BRAZIL, MODEL, Siberia, South american, ORIGINS, Genomic, Indians, North American, Ethnology, Athabascans, business, Human
Abstract

How and when the Americas were populated remains contentious. Using ancient and modern genome wide data we found that the ancestors of all present day Native Americans including Athabascans and Amerindians entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000 year isolation period in Beringia. After their arrival to the Americas ancestral Native Americans diversified into two basal genetic branches around 13 ka one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present day East Asians (including Siberians) and more distantly Australo Melanesians. Putative “Paleoamerican” relict populations including the historical Mexican Pericúes and South American Fuego Patagonians are not directly related to modern Australo Melanesians as suggested by the Paleoamerican Model. INTRODUCTION The consensus view on the peopling of the Americas is that ancestors of modern Native Americans entered the Americas from Siberia via the Bering Land Bridge and that this occurred at least {\textasciitilde}14.6 thousand years ago (ka). However the number and timing of migrations into the Americas remain controversial with conflicting interpretations based on anatomical and genetic evidence. RATIONALE In this study we address four major unresolved issues regarding the Pleistocene and recent population history of Native Americans: (i) the timing of their divergence from their ancestral group (ii) the number of migrations into the Americas (iii) whether there was {\textasciitilde}15000 years of isolation of ancestral Native Americans in Beringia (Beringian Incubation Model) and (iv) whether there was post Pleistocene survival of relict populations in the Americas related to Australo Melanesians as suggested by apparent differences in cranial morphologies between some early (“Paleoamerican”) remains and those of more recent Native Americans. We generated 31 high coverage modern genomes from the Americas Siberia and Oceania; 23 ancient genomic sequences from the Americas dating between {\textasciitilde}0.2 and 6 ka; and SNP chip genotype data from 79 present day individuals belonging to 28 populations from the Americas and Siberia. The above data sets were analyzed together with published modern and ancient genomic data from worldwide populations after masking some present day Native Americans for recent European admixture. RESULTS Using three different methods we determined the divergence time for all Native Americans (Athabascans and Amerindians) from their Siberian ancestors to be {\textasciitilde}20 ka and no earlier than {\textasciitilde}23 ka. Furthermore we dated the divergence between Athabascans (northern Native American branch together with northern North American Amerindians) and southern North Americans and South and Central Americans (southern Native American branch) to be {\textasciitilde}13 ka. Similar divergence times from East Asian populations and a divergence time between the two branches that is close in age to the earliest well established archaeological sites in the Americas suggest that the split between the branches occurred within the Americas. We additionally found that several sequenced Holocene individuals from the Americas are related to present day populations from the same geographical regions implying genetic continuity of ancient and modern populations in some parts of the Americas over at least the past 8500 years. Moreover our results suggest that there has been gene flow between some Native Americans from both North and South America and groups related to East Asians and Australo Melanesians the latter possibly through an East Asian route that might have included ancestors of modern Aleutian Islanders. Last using both genomic and morphometric analyses we found that historical Native American groups such as the Pericúes and Fuego Patagonians were not “relicts” of Paleoamericans and hence our results do not support an early migration of populations directly related to Australo Melanesians into the Americas. CONCLUSION Our results provide an upper bound of {\textasciitilde}23 ka on the initial divergence of ancestral Native Americans from their East Asian ancestors followed by a short isolation period of no more than {\textasciitilde}8000 years and subsequent entrance and spread across the Americas. The data presented are consistent with a single migration model for all Native Americans with later gene flow from sources related to East Asians and indirectly Australo Melanesians. The single wave diversified {\textasciitilde}13 ka likely within the Americas giving rise to the northern and southern branches of present day Native Americans. View larger version: In this page In a new window Download PowerPoint Slide for Teaching Population history of present day Native Americans.The ancestors of all Native Americans entered the Americas as a single migration wave from Siberia (purple) no earlier than {\textasciitilde}23 ka separate from the Inuit (green) and diversified into “northern” and “southern” Native American branches {\textasciitilde}13 ka. There is evidence of post divergence gene flow between some Native Americans and groups related to East Asians/Inuit and Australo Melanesians (yellow). Genetic history of Native Americans Several theories have been put forth as to the origin and timing of when Native American ancestors entered the Americas. To clarify this controversy Raghavan et al. examined the genomic variation among ancient and modern individuals from Asia and the Americas. There is no evidence for multiple waves of entry or recurrent gene flow with Asians in northern populations. The earliest migrations occurred no earlier than 23000 years ago from Siberian ancestors. Amerindians and Athabascans originated from a single population splitting approximately 13000 years ago. Science this issue 10.1126/science.aab3884

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26. Ancient pigs reveal a near-complete genomic turnover following their introduction to Europe.

Author

Frantz, L. A. F., Haile, J., Lin, A. T., Scheu, A., Geörg, C., Benecke, N., Alexander, M., Linderholm, A., Mullin, V. E., Daly, K. G., Battista, V. M., Price, M., Gron, K. J., Alexandri, P., Arbogast, R-M., Arbuckle, B., Barnett, R., Bartosiewicz, L., Baryshnikov, G., Bonsall, C., Borić, D., Boroneanţ, A., Bulatović, J., Çakirlar, C., Carretero, J-M., Chapman, J., Church, M., Crooijmans, R., De Cupere, B., Detry, C., Dimitrijevic, V., Dumitraşcu, V., du Plessis, L., Edwards, C. J., Erek, C. M., Erim-Özdoğan, A., Ervynck, A., Fulgione, D., Gligor, M., Götherström, A., Gourichon, L., Groenen, M. A. M., Helmer, D., Hongo, H., Horwitz, L. K., Irving-Pease, E. K., Lebrasseur, O., Lesur, J., Malone, C., Manaseryan, N., Marciniak, A., Martlew, H., Mashkour, M., Matthews, R., Matuzeviciute, G. M., Maziar, S., Meijaard, E., McGovern, T., Megens, H-J., Miller, R., Mohaseb, A. F., Orschiedt, J., Orton, D., Papathanasiou, A., Pearson, M. P., Pinhasi, R., Radmanović, D., Ricaut, F-X., Richards, M., Sabin, R., Sarti, L., Schier, W., Sheikhi, S., Stephan, E., Stewart, John R., Stoddart, S., Tagliacozzo, A ., Tasić, N., Trantalidou, K., Tresset, A., Valdiosera, C., van den Hurk, Y., Van Poucke, S., Vigne, J-D., Yanevich, A., Zeeb-Lanz, A., Triantafyllidis, A., Gilbert, M. T. P., Schibler, J., Rowley-Conwy, P., Zeder, M., Peters, J., Cucchi, T., Bradley, D. G., Dobney, K., Burger, J., Evin, A., Girdland-Flink, L., Larson, G., Frantz, L. A. F., Haile, J., Lin, A. T., Scheu, A., Geörg, C., Benecke, N., Alexander, M., Linderholm, A., Mullin, V. E., Daly, K. G., Battista, V. M., Price, M., Gron, K. J., Alexandri, P., Arbogast, R-M., Arbuckle, B., Barnett, R., Bartosiewicz, L., Baryshnikov, G., Bonsall, C., Borić, D., Boroneanţ, A., Bulatović, J., Çakirlar, C., Carretero, J-M., Chapman, J., Church, M., Crooijmans, R., De Cupere, B., Detry, C., Dimitrijevic, V., Dumitraşcu, V., du Plessis, L., Edwards, C. J., Erek, C. M., Erim-Özdoğan, A., Ervynck, A., Fulgione, D., Gligor, M., Götherström, A., Gourichon, L., Groenen, M. A. M., Helmer, D., Hongo, H., Horwitz, L. K., Irving-Pease, E. K., Lebrasseur, O., Lesur, J., Malone, C., Manaseryan, N., Marciniak, A., Martlew, H., Mashkour, M., Matthews, R., Matuzeviciute, G. M., Maziar, S., Meijaard, E., McGovern, T., Megens, H-J., Miller, R., Mohaseb, A. F., Orschiedt, J., Orton, D., Papathanasiou, A., Pearson, M. P., Pinhasi, R., Radmanović, D., Ricaut, F-X., Richards, M., Sabin, R., Sarti, L., Schier, W., Sheikhi, S., Stephan, E., Stewart, John R., Stoddart, S., Tagliacozzo, A ., Tasić, N., Trantalidou, K., Tresset, A., Valdiosera, C., van den Hurk, Y., Van Poucke, S., Vigne, J-D., Yanevich, A., Zeeb-Lanz, A., Triantafyllidis, A., Gilbert, M. T. P., Schibler, J., Rowley-Conwy, P., Zeder, M., Peters, J., Cucchi, T., Bradley, D. G., Dobney, K., Burger, J., Evin, A., Girdland-Flink, L., and Larson, G.

Abstract

Archaeological evidence indicates that pig domestication had begun by ∼10,500 y before the present (BP) in the Near East, and mitochondrial DNA (mtDNA) suggests that pigs arrived in Europe alongside farmers ∼8,500 y BP. A few thousand years after the introduction of Near Eastern pigs into Europe, however, their characteristic mtDNA signature disappeared and was replaced by haplotypes associated with European wild boars. This turnover could be accounted for by substantial gene flow from local European wild boars, although it is also possible that European wild boars were domesticated independently without any genetic contribution from the Near East. To test these hypotheses, we obtained mtDNA sequences from 2,099 modern and ancient pig samples and 63 nuclear ancient genomes from Near Eastern and European pigs. Our analyses revealed that European domestic pigs dating from 7,100 to 6,000 y BP possessed both Near Eastern and European nuclear ancestry, while later pigs possessed no more than 4% Near Eastern ancestry, indicating that gene flow from European wild boars resulted in a near-complete disappearance of Near East ancestry. In addition, we demonstrate that a variant at a locus encoding black coat color likely originated in the Near East and persisted in European pigs. Altogether, our results indicate that while pigs were not independently domesticated in Europe, the vast majority of human-mediated selection over the past 5,000 y focused on the genomic fraction derived from the European wild boars, and not on the fraction that was selected by early Neolithic farmers over the first 2,500 y of the domestication process.

27. A recent bottleneck of Y chromosome diversity coincides with a global change in culture

Author

Karmin M., Saag L., Vicente M., Wilson Sayres M., Järve M., Talas U., Rootsi S., Ilumäe A., Mägi R., Mitt M., Pagani L., Puurand T., Faltyskova Z., Clemente F., Cardona A., Metspalu E., Sahakyan H., Yunusbayev B., Hudjashov G., DeGiorgio M., Loogväli E., Eichstaedt C., Eelmets M., Chaubey G., Tambets K., Litvinov S., Mormina M., Xue Y., Ayub Q., Zoraqi G., Korneliussen T., Akhatova F., Lachance J., Tishkoff S., Momynaliev K., Ricaut F., Kusuma P., Razafindrazaka H., Pierron D., Cox M., Sultana G., Willerslev R., Muller C., Westaway M., Lambert D., Skaro V., Kovačević L., Turdikulova S., Dalimova D., Khusainova R., Trofimova N., Akhmetova V., Khidiyatova I., Lichman D., Isakova J., Pocheshkhova E., Sabitov Z., Barashkov N., Nymadawa P., Mihailov E., Seng J., Evseeva I., Migliano A., Abdullah S., Andriadze G., Primorac D., Atramentova L., Utevska O., Yepiskoposyan L., Marjanović D., Kushniarevich A., Behar D., Karmin M., Saag L., Vicente M., Wilson Sayres M., Järve M., Talas U., Rootsi S., Ilumäe A., Mägi R., Mitt M., Pagani L., Puurand T., Faltyskova Z., Clemente F., Cardona A., Metspalu E., Sahakyan H., Yunusbayev B., Hudjashov G., DeGiorgio M., Loogväli E., Eichstaedt C., Eelmets M., Chaubey G., Tambets K., Litvinov S., Mormina M., Xue Y., Ayub Q., Zoraqi G., Korneliussen T., Akhatova F., Lachance J., Tishkoff S., Momynaliev K., Ricaut F., Kusuma P., Razafindrazaka H., Pierron D., Cox M., Sultana G., Willerslev R., Muller C., Westaway M., Lambert D., Skaro V., Kovačević L., Turdikulova S., Dalimova D., Khusainova R., Trofimova N., Akhmetova V., Khidiyatova I., Lichman D., Isakova J., Pocheshkhova E., Sabitov Z., Barashkov N., Nymadawa P., Mihailov E., Seng J., Evseeva I., Migliano A., Abdullah S., Andriadze G., Primorac D., Atramentova L., Utevska O., Yepiskoposyan L., Marjanović D., Kushniarevich A., and Behar D.

Abstract

© 2015 Karmin et al. It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, we date the Y-chromosomal most recent common ancestor (MRCA) in Africa at 254 (95% CI 192-307) kya and detect a cluster of major non-African founder haplogroups in a narrow time interval at 47-52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.

28. A recent bottleneck of Y chromosome diversity coincides with a global change in culture

Author

Karmin M., Saag L., Vicente M., Wilson Sayres M., Järve M., Talas U., Rootsi S., Ilumäe A., Mägi R., Mitt M., Pagani L., Puurand T., Faltyskova Z., Clemente F., Cardona A., Metspalu E., Sahakyan H., Yunusbayev B., Hudjashov G., DeGiorgio M., Loogväli E., Eichstaedt C., Eelmets M., Chaubey G., Tambets K., Litvinov S., Mormina M., Xue Y., Ayub Q., Zoraqi G., Korneliussen T., Akhatova F., Lachance J., Tishkoff S., Momynaliev K., Ricaut F., Kusuma P., Razafindrazaka H., Pierron D., Cox M., Sultana G., Willerslev R., Muller C., Westaway M., Lambert D., Skaro V., Kovačević L., Turdikulova S., Dalimova D., Khusainova R., Trofimova N., Akhmetova V., Khidiyatova I., Lichman D., Isakova J., Pocheshkhova E., Sabitov Z., Barashkov N., Nymadawa P., Mihailov E., Seng J., Evseeva I., Migliano A., Abdullah S., Andriadze G., Primorac D., Atramentova L., Utevska O., Yepiskoposyan L., Marjanović D., Kushniarevich A., Behar D., Karmin M., Saag L., Vicente M., Wilson Sayres M., Järve M., Talas U., Rootsi S., Ilumäe A., Mägi R., Mitt M., Pagani L., Puurand T., Faltyskova Z., Clemente F., Cardona A., Metspalu E., Sahakyan H., Yunusbayev B., Hudjashov G., DeGiorgio M., Loogväli E., Eichstaedt C., Eelmets M., Chaubey G., Tambets K., Litvinov S., Mormina M., Xue Y., Ayub Q., Zoraqi G., Korneliussen T., Akhatova F., Lachance J., Tishkoff S., Momynaliev K., Ricaut F., Kusuma P., Razafindrazaka H., Pierron D., Cox M., Sultana G., Willerslev R., Muller C., Westaway M., Lambert D., Skaro V., Kovačević L., Turdikulova S., Dalimova D., Khusainova R., Trofimova N., Akhmetova V., Khidiyatova I., Lichman D., Isakova J., Pocheshkhova E., Sabitov Z., Barashkov N., Nymadawa P., Mihailov E., Seng J., Evseeva I., Migliano A., Abdullah S., Andriadze G., Primorac D., Atramentova L., Utevska O., Yepiskoposyan L., Marjanović D., Kushniarevich A., and Behar D.

Abstract

© 2015 Karmin et al. It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, we date the Y-chromosomal most recent common ancestor (MRCA) in Africa at 254 (95% CI 192-307) kya and detect a cluster of major non-African founder haplogroups in a narrow time interval at 47-52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.

29. Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Author

Simona Barlera, Giovanni Birolo, Simon Myers, Viola Grugni, Vincenzo Lorenzo Pascali, Andrea Angius, Mait Metspalu, Francesca Brisighelli, Antonio Torroni, Francesco Montinaro, Hovirag Lancioni, Luísa Pereira, Antonella Mulas, Mohammed Melhaoui, Alessandro Achilli, Serena Aneli, Mohammed Cherkaoui, Peristera Paschou, M. Peyret-Guzzon, Pilar Galan, Giorgio B. Boncoraglio, A. M. Di Blasio, Stéphane Mazières, C. Di Gaetano, Garrett Hellenthal, Giuseppe Matullo, George Stamatoyannopoulos, Joanna Giemza, J. Di Cristofaro, Magdalena Zoledziewska, Irene Cardinali, Georgios Athanasiadis, Cristian Capelli, François-Xavier Ricaut, Jacques Chiaroni, Anna Olivieri, Alessandro Raveane, Luca Pagani, Toomas Kivisild, Abdellatif Baali, Nicolas Brucato, Christian Dina, Jean-Michel Dugoujon, Clare Bycroft, Alberto Piazza, Silvia Parolo, Francesco Cucca, Ornella Semino, Dipartimento di Biologia e Biotecnologie ‘Lazzaro Spallanzani’, University of Pavia, University of Pavia, University of Oxford [Oxford], Aarhus University [Aarhus], Istituto di Ricerche Farmacologiche Mario Negri, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino'-Fondazione 'Istituto Neurologico Nazionale C. Mondino', University of Turin, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Dipartimento di Genetica, Biologica e Biochimica, Università degli studi di Torino (UNITO), Laboratoire d'Etude du Rayonnement et de la Matière en Astrophysique (LERMA), École normale supérieure - Paris (ENS Paris)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, PSL Research University (PSL)-PSL Research University (PSL)-Université de Cergy Pontoise (UCP), Université Paris-Seine-Université Paris-Seine-Centre National de la Recherche Scientifique (CNRS), Georgia Tech - CNRS [Metz] (UMI2958), Ecole Nationale Supérieure des Arts et Metiers Metz-SUPELEC-Georgia Institute of Technology [Atlanta]-Georgia Institute of Technology [Lorraine, France]-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Etablissement Français du Sang - Alpes-Méditerranée (EFS - Alpes-Méditerranée), Etablissement Français du Sang, Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Unité de Recherche en Epidémiologie Nutritionnelle (UREN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Institut National de la Recherche Agronomique (INRA), Equipe 3: EREN- Equipe de Recherche en Epidémiologie Nutritionnelle (CRESS - U1153), Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC), Centre National de la Recherche Scientifique (CNRS), Dipartimento di Genetica e Microbiologica, Università di Pavia, Dipartimento di Genetica e Microbiologia, Instituto de Investigação e Inovação em Saúde, Raveane, A, Aneli, S, Montinaro, F, Athanasiadis, G, Barlera, S, Birolo, G, Boncoraglio, G, Di Blasio, A, Di Gaetano, C, Pagani, L, Parolo, S, Paschou, P, Piazza, A, Stamatoyannopoulos, G, Angius, A, Brucato, N, Cucca, F, Hellenthal, G, Mulas, A, Peyret-Guzzon, M, Zoledziewska, M, Baali, A, Bycroft, C, Cherkaoui, M, Chiaroni, J, Di Cristofaro, J, Dina, C, Dugoujon, J, Galan, P, Giemza, J, Kivisild, T, Mazieres, S, Melhaoui, M, Metspalu, M, Myers, S, Pereira, L, Ricaut, F, Brisighelli, F, Cardinali, I, Grugni, V, Lancioni, H, Pascali, V, Torroni, A, Semino, O, Matullo, G, Achilli, A, Olivieri, A, Capelli, C, Mazières, Stéphane, Dipartimento di Biologia e Biotecnologie 'Lazzaro Spallanzani' = Department of Biology and Biotechnology [Univ di Pavia] (DBB UNIPV), Università degli Studi di Pavia = University of Pavia (UNIPV), University of Oxford, Università degli studi di Torino = University of Turin (UNITO), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire de Paris, Université Paris sciences et lettres (PSL)-Université de Cergy Pontoise (UCP), Georgia Tech Lorraine [Metz], Ecole Nationale Supérieure des Arts et Metiers Metz-Georgia Institute of Technology [Atlanta]-Ecole Supérieure d'Electricité - SUPELEC (FRANCE)-CentraleSupélec-Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), École normale supérieure - Paris (ENS Paris), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Sorbonne Paris Cité (USPC)-Université Paris 13 (UP13)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université (HESAM)-HESAM Université (HESAM)-Institut National de la Recherche Agronomique (INRA), HESAM Université (HESAM)-HESAM Université (HESAM)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA), Università degli Studi di Pavia, Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Paris 13 (UP13)-Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), and Université Paris 13 (UP13)-Institut National de la Recherche Agronomique (INRA)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
SELECTION, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Distribution (economics), Population genetics, Neanderthal genome project, 0302 clinical medicine, Peninsula, HISTORY, Databases, Genetic, ADAPTATION, Research Articles, History, Ancient, media_common, Neanderthals, MODERN HUMANS, 0303 health sciences, Multidisciplinary, geography.geographical_feature_category, POPULATION GENETICS, GENOMICS, EUROPE, Population Genetic, SciAdv r-articles, ASSOCIATION, [SHS.ANTHRO-BIO] Humanities and Social Sciences/Biological anthropology, Multidisciplinary Sciences, ADMIXTURE, Geography, Italy, Ethnology, Science & Technology - Other Topics, Neanderthals / genetics, Research Article, EUROPE, MIGRATION, media_common.quotation_subject, Pastoralism, Human Genetic, Settore BIO/08 - ANTROPOLOGIA, GENETIC-STRUCTURE, SEQUENCE, White People, 03 medical and health sciences, Bronze Age, POPULATION GENETICS, Genetic variation, Animals, Humans, DNA, Ancient, European Continental Ancestry Group / genetics, 030304 developmental biology, Science & Technology, business.industry, Genome, Human, Genetic Drift, Human Genetics, Anthropology, GENOME-WIDE PATTERNS, business, GENOMICS, 030217 neurology & neurosurgery, Diversity (politics), Genome-Wide Association Study
Abstract

A population in a natural crossroad within Europe reveals multiple ancient contributions and substantial population structure., European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non–steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.

Published
2019
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30. POPULATION GENETICS. Genomic evidence for the Pleistocene and recent population history of Native Americans

Author

Maanasa, Raghavan, Matthias, Steinrücken, Kelley, Harris, Stephan, Schiffels, Simon, Rasmussen, Michael, DeGiorgio, Anders, Albrechtsen, Cristina, Valdiosera, María C, Ávila-Arcos, Anna-Sapfo, Malaspinas, Anders, Eriksson, Ida, Moltke, Mait, Metspalu, Julian R, Homburger, Jeff, Wall, Omar E, Cornejo, J Víctor, Moreno-Mayar, Thorfinn S, Korneliussen, Tracey, Pierre, Morten, Rasmussen, Paula F, Campos, Peter, de Barros Damgaard, Morten E, Allentoft, John, Lindo, Ene, Metspalu, Ricardo, Rodríguez-Varela, Josefina, Mansilla, Celeste, Henrickson, Andaine, Seguin-Orlando, Helena, Malmström, Thomas, Stafford, Suyash S, Shringarpure, Andrés, Moreno-Estrada, Monika, Karmin, Kristiina, Tambets, Anders, Bergström, Yali, Xue, Vera, Warmuth, Andrew D, Friend, Joy, Singarayer, Paul, Valdes, Francois, Balloux, Ilán, Leboreiro, Jose Luis, Vera, Hector, Rangel-Villalobos, Davide, Pettener, Donata, Luiselli, Loren G, Davis, Evelyne, Heyer, Christoph P E, Zollikofer, Marcia S, Ponce de León, Colin I, Smith, Vaughan, Grimes, Kelly-Anne, Pike, Michael, Deal, Benjamin T, Fuller, Bernardo, Arriaza, Vivien, Standen, Maria F, Luz, Francois, Ricaut, Niede, Guidon, Ludmila, Osipova, Mikhail I, Voevoda, Olga L, Posukh, Oleg, Balanovsky, Maria, Lavryashina, Yuri, Bogunov, Elza, Khusnutdinova, Marina, Gubina, Elena, Balanovska, Sardana, Fedorova, Sergey, Litvinov, Boris, Malyarchuk, Miroslava, Derenko, M J, Mosher, David, Archer, Jerome, Cybulski, Barbara, Petzelt, Joycelynn, Mitchell, Rosita, Worl, Paul J, Norman, Peter, Parham, Brian M, Kemp, Toomas, Kivisild, Chris, Tyler-Smith, Manjinder S, Sandhu, Michael, Crawford, Richard, Villems, David Glenn, Smith, Michael R, Waters, Ted, Goebel, John R, Johnson, Ripan S, Malhi, Mattias, Jakobsson, David J, Meltzer, Andrea, Manica, Richard, Durbin, Carlos D, Bustamante, Yun S, Song, Rasmus, Nielsen, Eske, Willerslev, Raghavan M, Steinrücken M, Harris K, Schiffels S, Rasmussen S, DeGiorgio M, Albrechtsen A, Valdiosera C, Ávila-Arcos MC, Malaspinas AS, Eriksson A, Moltke I, Metspalu M, Homburger JR, Wall J, Cornejo OE, Moreno-Mayar JV, Korneliussen TS, Pierre T, Rasmussen M, Campos PF, Damgaard Pde B, Allentoft ME, Lindo J, Metspalu E, Rodríguez-Varela R, Mansilla J, Henrickson C, Seguin-Orlando A, Malmström H, Stafford T Jr, Shringarpure SS, Moreno-Estrada A, Karmin M, Tambets K, Bergström A, Xue Y, Warmuth V, Friend AD, Singarayer J, Valdes P, Balloux F, Leboreiro I, Vera JL, Rangel-Villalobos H, Pettener D, Luiselli D, Davis LG, Heyer E, Zollikofer CP, Ponce de León MS, Smith CI, Grimes V, Pike KA, Deal M, Fuller BT, Arriaza B, Standen V, Luz MF, Ricaut F, Guidon N, Osipova L, Voevoda MI, Posukh OL, Balanovsky O, Lavryashina M, Bogunov Y, Khusnutdinova E, Gubina M, Balanovska E, Fedorova S, Litvinov S, Malyarchuk B, Derenko M, Mosher MJ, Archer D, Cybulski J, Petzelt B, Mitchell J, Worl R, Norman PJ, Parham P, Kemp BM, Kivisild T, Tyler-Smith C, Sandhu MS, Crawford M, Villems R, Smith DG, Waters MR, Goebel T, Johnson JR, Malhi RS, Jakobsson M, Meltzer DJ, Manica A, Durbin R, Bustamante CD, Song YS, Nielsen R, and Willerslev E

Subjects
Gene Flow, Siberia, Models, Genetic, Athabascans and Amerindians, Human Migration, Genetic history of Native American, Indians, North American, Humans, Genomics, Americas, Population genetic, History, Ancient, Article
Abstract

How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we find that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (KYA), and after no more than 8,000-year isolation period in Beringia. Following their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 KYA, one that is now dispersed across North and South America and the other is restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative ‘Paleoamerican’ relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.

Published
2015

31. POPULATION GENETICS. Genomic evidence for the Pleistocene and recent population history of Native Americans.

Author

Raghavan M, Steinrücken M, Harris K, Schiffels S, Rasmussen S, DeGiorgio M, Albrechtsen A, Valdiosera C, Ávila-Arcos MC, Malaspinas AS, Eriksson A, Moltke I, Metspalu M, Homburger JR, Wall J, Cornejo OE, Moreno-Mayar JV, Korneliussen TS, Pierre T, Rasmussen M, Campos PF, de Barros Damgaard P, Allentoft ME, Lindo J, Metspalu E, Rodríguez-Varela R, Mansilla J, Henrickson C, Seguin-Orlando A, Malmström H, Stafford T Jr, Shringarpure SS, Moreno-Estrada A, Karmin M, Tambets K, Bergström A, Xue Y, Warmuth V, Friend AD, Singarayer J, Valdes P, Balloux F, Leboreiro I, Vera JL, Rangel-Villalobos H, Pettener D, Luiselli D, Davis LG, Heyer E, Zollikofer CPE, Ponce de León MS, Smith CI, Grimes V, Pike KA, Deal M, Fuller BT, Arriaza B, Standen V, Luz MF, Ricaut F, Guidon N, Osipova L, Voevoda MI, Posukh OL, Balanovsky O, Lavryashina M, Bogunov Y, Khusnutdinova E, Gubina M, Balanovska E, Fedorova S, Litvinov S, Malyarchuk B, Derenko M, Mosher MJ, Archer D, Cybulski J, Petzelt B, Mitchell J, Worl R, Norman PJ, Parham P, Kemp BM, Kivisild T, Tyler-Smith C, Sandhu MS, Crawford M, Villems R, Smith DG, Waters MR, Goebel T, Johnson JR, Malhi RS, Jakobsson M, Meltzer DJ, Manica A, Durbin R, Bustamante CD, Song YS, Nielsen R, and Willerslev E

Subjects
Americas, Gene Flow, Genomics, History, Ancient, Humans, Indians, North American genetics, Models, Genetic, Siberia, Human Migration history, Indians, North American history
Abstract

How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative "Paleoamerican" relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model., (Copyright © 2015, American Association for the Advancement of Science.)

Published
2015
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32. Testing for kavain in human hair using gas chromatography-tandem mass spectrometry.

Author

Villain M, Cirimele V, Tracqui A, Ricaut FX, Ludes B, and Kintz P

Subjects
Calibration, Humans, Reproducibility of Results, Sensitivity and Specificity, Gas Chromatography-Mass Spectrometry methods, Hair chemistry, Pyrones analysis
Abstract

A sensitive, specific and reproducible method for the quantitative determination of kavain in human hair has been developed. The sample preparation involved a decontamination step of the hair with methylene chloride. The hair sample (about 50 mg) was incubated in 1 ml of methanol for 1 h, in an ultrasonic bath, in presence of 20 ng of methaqualone-d7 used as internal standard. The methanolic solution was evaporated to dryness, and the residue reconstituted by adding 30 microl of methanol. A 2 microl aliquot of the extract was injected onto the column (Optima5-MS capillary column, 5% phenyl-95% methylsiloxane, 30 m x 0.25 mm i.d. x 0.25 mm film thickness) of a Hewlett-Packard (Palo Alto, CA) gas chromatograph (5890). Kavain was detected by its parent ion at m/z 230 and daughter ions at m/z 111 and 202 through a Finnigan TSQ 700 MS/MS system. The assay was capable of detecting 30 pg/mg of kavain (limit of detection (LOD)). Linearity was observed for kavain concentrations ranging from 100 to 2000 pg/mg with a correlation coefficient of 0.998. Intra-day precision at 400 pg/mg was 13.7%. The analysis of a segment of hair, obtained from an occasional consumer, revealed the presence of kavain at the concentration of 418 pg/mg. A higher concentration (1708 pg/mg) was detected in the corresponding pubic hair.

Published
2003
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