Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity

Brandt, Guido; Haak, Wolfgang; Adler, Christina; Roth, Christina; Szécsényi-Nagy, Anna; Karimnia, Sarah; Möller-Rieker, Sabine; Meller, Harald; Ganslmeier, Robert; Friederich, Susanne; Dresely, Veit; Nicklisch, Nicole; Pickrell, Joseph K.; Sirocko, Frank; Reich, David; Cooper, Alan; Alt, Kurt W.

doi:10.1126/science.1241844

Cited by 303 publications

(449 citation statements)

References 74 publications

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“…Comparative analyses with present-day populations have revealed Near Eastern affinities of the mitochondrial LBK ancestry, supporting the demic diffusion model and population replacement at the beginning of the Neolithic period [38,39]. Ancient genomic studies have described the early farmers as genetically most similar to extant populations of southern Europe [31,33,40,41].…”

Section: Introductionmentioning

confidence: 91%

“…Recent ancient DNA (aDNA) studies have provided direct insights into the mtDNA and nuclear genomic diversity of hunter-gatherers in Europe [28][29][30][31][32][33][34][35] and the Central European LBK [33,[36][37][38][39][40], describing genetic discontinuity between local foragers and early farmers [28,31,38,40]. Comparative analyses with present-day populations have revealed Near Eastern affinities of the mitochondrial LBK ancestry, supporting the demic diffusion model and population replacement at the beginning of the Neolithic period [38,39].…”

Section: Introductionmentioning

confidence: 99%

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Tracing the genetic origin of Europe's first farmers reveals insights into their social organization

et al. 2015

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Farming was established in Central Europe by the Linearbandkeramik culture (LBK), a well-investigated archaeological horizon, which emerged in the Carpathian Basin, in today's Hungary. However, the genetic background of the LBK genesis is yet unclear. Here we present 9 Y chromosomal and 84 mitochondrial DNA profiles from Mesolithic, Neolithic Starčevo and LBK sites (seventh/sixth millennia BC) from the Carpathian Basin and southeastern Europe. We detect genetic continuity of both maternal and paternal elements during the initial spread of agriculture, and confirm the substantial genetic impact of early southeastern European and Carpathian Basin farming cultures on Central European populations of the sixth-fourth millennia BC. Comprehensive Y chromosomal and mitochondrial DNA population genetic analyses demonstrate a clear affinity of the early farmers to the modern Near East and Caucasus, tracing the expansion from that region through southeastern Europe and the Carpathian Basin into Central Europe. However, our results also reveal contrasting patterns for male and female genetic diversity in the European Neolithic, suggesting a system of patrilineal descent and patrilocal residential rules among the early farmers.

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Section: Introductionmentioning

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Tracing the genetic origin of Europe's first farmers reveals insights into their social organization

et al. 2015

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“…65 T2b is the most common lineage among T2, reaching higher frequencies in Western Europe than in the Near East. 64 Considering T2b branch, no haplotypes were shared between Jews and Portuguese individuals for the CR, demonstrating the absence of reciprocal introgression of T2b lineages between these two populations (Supplementary Figure 5).…”

Section: Echoes From Sepharad I Nogueiro Et Almentioning

confidence: 99%

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

et al. 2014

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The majority of genetic studies on Jewish populations have been focused on Ashkenazim, and genetic data from the Sephardic original source, the Iberian Peninsula, are particularly scarce. Regarding the mitochondrial genome, the available information is limited to a single Portuguese village, Belmonte, where just two different lineages (a single one corresponding to 93.3%) were found in 30 individuals. Aiming at disclosing the ancestral maternal background of the Portuguese Jewry, we enlarged the sampling to other crypto-Jewish descendants in the Braganc¸a district (NE Portugal). Fifty-seven complete mtDNA genomes were newly sequenced and -in contrast with Belmonte -a high level of diversity was found, with five haplogroups (HV0b, N1, T2b11, T2e and U2e) being putatively identified as Sephardic founding lineages. Therefore -in sharp contrast with Belmonte -these communities have managed to escape the expected inbreeding effects caused by centuries of religious repression and have kept a significant proportion of the Sephardic founder gene pool. This deeper analysis of the surviving Sephardic maternal lineages allowed a much more comprehensive and detailed perspective on the origins and survival of the Sephardic genetic heritage. In line with previously published results on Sephardic paternal lineages, our findings also show a surprising resistance to the erosion of genetic diversity in the maternal lineages.

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“…All of them have been found widely distributed along the European prehistory, with several human remains scattered through this continent. 2,[30][31][32] These three subhaplogroups have the highest frequencies in the extant European populations. Strikingly, with the exception of T2b, whose frequency peak is located in the North of Italy, 33 subhaplogroups H1 and U5b reach their highest frequencies in the North of the Iberian Peninsula, specifically in the region where the Franco-Cantabrian refuge was settled during the Upper Palaeolithic.…”

Section: Phylogenetic Historymentioning

confidence: 99%

Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula

et al. 2017

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The Basque population inhabits the Franco-Cantabrian region in southwest Europe where Palaeolithic human groups took refuge during the Last Glacial Maximum. Basques have been an isolated population, largely considered as one of the most ancient European populations and it is possible that they maintained some pre-Neolithic genetic characteristics. This work shows the results of mitochondrial DNA analysis of seven ancient human remains from the Cave of Santimamiñe in the Basque Country dated from Mesolithic to the Late Roman period. In addition, we compared these data with those obtained from a modern sample of Basque population, 158 individuals that nowadays inhabits next to the cave. The results support the hypothesis that Iberians might have been less affected by the Neolithic mitochondrial lineages carried from the Near East than populations of Central Europe and revealed the unexpected presence of prehistoric maternal lineages such as U5a2a and U3a in the Basque region. Comparison between ancient and current population samples upholds the hypothesis of continuity of the maternal lineages in the area of the Franco-Cantabrian region.

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Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity

Cited by 303 publications

References 74 publications

Tracing the genetic origin of Europe's first farmers reveals insights into their social organization

Tracing the genetic origin of Europe's first farmers reveals insights into their social organization

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula

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