Ancient genomes from Iceland reveal the making of a human population

Ebenesersdóttir, S. Sunna; Sandoval-Velasco, Marcela; Gunnarsdóttir, Ellen; Jagadeesan, Anuradha; Guðmundsdóttir, Valdís B.; Þórðardóttir, Elísabet Linda; Einarsdóttir, Margrét; Moore, Kristjan H. S.; Sigurðsson, Ásgeir; Magnúsdóttir, Droplaug N; Jónsson, Hákon; Snorradóttir, Steinunn; Hovig, Eivind; Møller, Pål; Kockum, Ingrid; Olsson, Tomas; Alfredsson, Lars; Hansen, Thomas Folkmann; Werge, Thomas; Cavalleri, Gianpiero L.; Gilbert, Edmund; Lalueza-Fox, Carles; Walser, Joe W.; Kristjánsdóttir, Steinunn; Gopalakrishnan, Shyam; Árnadóttir, Lilja; Magnússon, Ólafur Þ.; Gilbert, Martin; Stefánsson, Kāri; Helgason, Agnar

doi:10.1126/science.aar2625

Cited by 71 publications

(55 citation statements)

References 49 publications

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“…This suggests that either sexual interactions did not take place or that, if they did, then on a very small and incidental scale with the children remaining in the native communities. In terms of genetic ancestry of the Greenlandic Norse, we find evidence of admixture between Scandinavians (mostly from Norway) and individuals from the British Isles, similar to the first settlers of Iceland 52 , which supports the archaeological and historical links between the Greenlandic Norse and the Icelandic Vikings.…”

Section: Introductionsupporting

confidence: 72%

Population genomics of the Viking world

Lawson

Sikora

Racimo

et al. 2019

Preprint

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87 The Viking maritime expansion from Scandinavia (Denmark, Norway, and Sweden) marks one 88 of the swiftest and most far-flung cultural transformations in global history. During this time 89 (c. 750 to 1050 CE), the Vikings reached most of western Eurasia, Greenland, and North 90 America, and left a cultural legacy that persists till today. To understand the genetic structure 91 and influence of the Viking expansion, we sequenced the genomes of 442 ancient humans from 92 across Europe and Greenland ranging from the Bronze Age (c. 2400 BC) to the early Modern 93 period (c. 1600 CE), with particular emphasis on the Viking Age. We find that the period 94 preceding the Viking Age was accompanied by foreign gene flow into Scandinavia from the 95 south and east: spreading from Denmark and eastern Sweden to the rest of Scandinavia. 96Despite the close linguistic similarities of modern Scandinavian languages, we observe genetic 97 structure within Scandinavia, suggesting that regional population differences were already 98 present 1,000 years ago. We find evidence for a majority of Danish Viking presence in England, 99 Swedish Viking presence in the Baltic, and Norwegian Viking presence in Ireland, Iceland, and 100Greenland. Additionally, we see substantial foreign European ancestry entering Scandinavia 101 during the Viking Age. We also find that several of the members of the only archaeologically 102 well-attested Viking expedition were close family members. By comparing Viking Scandinavian 103 genomes with present-day Scandinavian genomes, we find that pigmentation-associated loci 104 have undergone strong population differentiation during the last millennia. Finally, we are able 105 to trace the allele frequency dynamics of positively selected loci with unprecedented detail, 106 including the lactase persistence allele and various alleles associated with the immune response. 107We conclude that the Viking diaspora was characterized by substantial foreign engagement: 108 distinct Viking populations influenced the genomic makeup of different regions of Europe, 109 while Scandinavia also experienced increased contact with the rest of the continent. 110 111

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Section: Introductionsupporting

confidence: 72%

Population genomics of the Viking world

Lawson

Sikora

Racimo

et al. 2019

Preprint

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“…The latter sample is at the root of the reconstructed J1c3g tree, which has been dated to 5.4 ± 0.3 kya. Four more recent J1c3g mtDNAs have been also identified in one individual from Spain dated to the sixth century CE and archaeologically interpreted as a www.nature.com/scientificreports/ Visigoth 54 , one Hungarian conqueror 55 and a pre-Christian Icelander 56 , both from the early tenth century CE, and a medieval sample from Denmark 57 .…”

Section: Resultsmentioning

confidence: 99%

The mitogenome portrait of Umbria in Central Italy as depicted by contemporary inhabitants and pre-Roman remains

Modi

Lancioni

Cardinali

et al. 2020

Sci Rep

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Umbria is located in Central Italy and took the name from its ancient inhabitants, the Umbri, whose origins are still debated. Here, we investigated the mitochondrial DNA (mtDNA) variation of 545 present-day Umbrians (with 198 entire mitogenomes) and 28 pre-Roman individuals (obtaining 19 ancient mtDNAs) excavated from the necropolis of Plestia. We found a rather homogeneous distribution of western Eurasian lineages across the region, with few notable exceptions. Contemporary inhabitants of the eastern part, delimited by the Tiber River and the Apennine Mountains, manifest a peculiar mitochondrial proximity to central-eastern Europeans, mainly due to haplogroups U4 and U5a, and an overrepresentation of J (30%) similar to the pre-Roman remains, also excavated in East Umbria. Local genetic continuities are further attested to by six terminal branches (H1e1, J1c3, J2b1, U2e2a, U8b1b1 and K1a4a) shared between ancient and modern mitogenomes. Eventually, we identified multiple inputs from various population sources that likely shaped the mitochondrial gene pool of ancient Umbri over time, since early Neolithic, including gene flows with central-eastern Europe. This diachronic mtDNA portrait of Umbria fits well with the genome-wide population structure identified on the entire peninsula and with historical sources that list the Umbri among the most ancient Italic populations. Due to its acknowledged potential, archaeogenetics is broadly applied to study ancient civilizations, demographic histories and migration events. Markedly, advances in high-throughput genotyping technology have highlighted how the present-day genetic variation of human populations is the outcome of past population movements. In prehistoric times, the Mediterranean area experienced three significant migration waves whose legacy is retrieved in the mitochondrial pool of modern and ancient populations: the Paleolithic hunter-gatherers who survived and re-expanded from glacial refuges, the Neolithic farming societies that moved from the East, and the herders from the Pontic-Caspian steppes inaugurating the Bronze Age 1-13 .

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“…The Norwegian dataset was merged with extended versions of the Danish and a Swedish reference samples used in (14), genotyped on the same genotyping platform. SNPs passing quality control and filtering criteria in the Norwegian dataset were extracted from the Danish and Swedish datasets, expanding the dataset with 1853 Danish and 7966 Swedish samples.…”

Section: Methodsmentioning

confidence: 99%

The genetic structure of Norway

Mattingsdal

Ebenesersdóttir

Moore

et al. 2020

Preprint

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2 26 Abstract 27 The aim of the present study was to describe the genetic structure of the Norwegian 28 population using genotypes from 6369 unrelated individuals with detailed information 29 about places of residence. Using standard single marker-and haplotype-based 30 approaches, we report evidence of two regions with distinctive patterns of genetic 31 variation, one in the far northeast, and another in the south of Norway, as indicated by 32 fixation indices, haplotype sharing, homozygosity and effective population size. We 33 detect and quantify a component of Uralic Sami ancestry that is enriched in the North.34 On a finer scale, we find that rates of migration have been affected by topography like 35 mountain ridges. In the broader Scandinavian context, we detect elevated relatedness 36 between the mid-and northern border areas towards Sweden. The main finding of this 37 study is that despite Norway's long maritime history and as a former Danish territory, 38 the region closest to mainland Europe in the south appears to have been the most 39 isolated region in Norway, highlighting the open sea as a barrier to gene flow. 40 41 43 3 44 Introduction 45 Population sub-structures can give rise to false positive associations in association46 studies of genetic variants (1), can reveal historical patterns of population movements 47 (2, 3), and estimates of ancestry have potential in informing genealogy and forensic 48 genetics (4). Natural features, such as the sea and mountain ridges, tend to limit gene 49 flow between groups of individuals (5), resulting in reproductive isolation and 50 divergence in allele frequencies over time. This divergence may be especially 51 pronounced in smaller populations, due to greater genetic drift. Among the populations 52 in Northern Europe, geographically structured differences are primarily due to isolation 53 by distance, but may also result from founding effects and subsequent isolation (6, 7).54 Further, isolation and reduction of gene flow within a geographical area can also 55 manifest an increase in recessive Mendelian disorders (8, 9) and founder mutations.56 Indeed, geographically clustered and expanding BRCA1 founder mutations have been 57 previously reported for Norway (10, 11). 58Norway is one of the most sparsely populated countries in Europe, but little is 59 known about its main genetic structure. Its relatively large landmass has the longest 60 coastline in Europe, but has a population of only ~5 million, that includes one of the 61 few indigenous peoples of Europe, the Sami. With unfavorable climatic conditions, 62 combined with the third least arable land in Europe, Norway has provided its people 63 with limited agricultural opportunities. Historically, farms were fragmented through 64 inheritance to ever smaller units, ultimately resulting in unsustainable population 65 growth, especially during the 19 th century. Combined with poverty, this motivated the 66 mass emigration of a substantial fraction (1/3) of the population to the Americas during 67 the 19th c...

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Ancient genomes from Iceland reveal the making of a human population

Cited by 71 publications

References 49 publications

Population genomics of the Viking world

Population genomics of the Viking world

The mitogenome portrait of Umbria in Central Italy as depicted by contemporary inhabitants and pre-Roman remains

The genetic structure of Norway

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