Mitochondrial DNA from El Mirador cave (Atapuerca, Spain) reveals the heterogeneity of Chalcolithic populations.

Previous mitochondrial DNA analyses on ancient European remains have suggested that the current distribution of haplogroup H was modeled by the expansion of the Bell Beaker culture (ca 4,500-4,050 years BP) out of Iberia during the Chalcolithic period. However, little is known on the genetic composition of contemporaneous Iberian populations that do not carry the archaeological tool kit defining this culture. Here we have retrieved mitochondrial DNA (mtDNA) sequences from 19 individuals from a Chalcolithic sample from El Mirador cave in Spain, dated to 4,760-4,200 years BP and we have analyzed the haplogroup composition in the context of modern and ancient populations. Regarding extant African, Asian and European populations, El Mirador shows affinities with Near Eastern groups. In different analyses with other ancient samples, El Mirador clusters with Middle and Late Neolithic populations from Germany, belonging to the Rossen, the Salzmunde and the Baalberge archaeological cultures but not with contemporaneous Bell Beakers. Our analyses support the existence of a common genetic signal between Western and Central Europe during the Middle and Late Neolithic and points to a heterogeneous genetic landscape among Chalcolithic groups

Genomic analysis of the blood attributed to Louis XVI (1754-1793), king of France

Olalde, Iñigo et al.-- This work is licensed under a Creative Commons Attribution 3.0 Unported License.A pyrographically decorated gourd, dated to the French Revolution period, has been alleged to contain a handkerchief dipped into the blood of the French king Louis XVI (1754-1793) after his beheading but recent analyses of living males from two Bourbon branches cast doubts on its authenticity. We sequenced the complete genome of the DNA contained in the gourd at low coverage (∼2.5×) with coding sequences enriched at a higher ∼7.3× coverage. We found that the ancestry of the gourd's genome does not seem compatible with Louis XVI's known ancestry. From a functional perspective, we did not find an excess of alleles contributing to height despite being described as the tallest person in Court. In addition, the eye colour prediction supported brown eyes, while Louis XVI had blue eyes. This is the first draft genome generated from a person who lived in a recent historical period; however, our results suggest that this sample may not correspond to the alleged king.This work is supported by FEDER and Spanish Government grants BFU2012-38236 and the Spanish Multiple Sclerosis Netowrk (REEM) of the Instituto de Salud Carlos III (RD12/0032/0011) to A.N., BFU2011-28549 and ERC Starting Grant (260372) to T.M.-B. and BFU2012-34157 to C.L.-F. and S.C., and a predoctoral fellowship from the Basque Government (DEUI) to I.O.Peer Reviewe

Hierarchical Ward clustering of El Mirador along with modern and prehistoric samples from Central Europe.

<p>Haplogroup frequencies of El Mirador (MIR), hunter-gatherer central (HGC), and nine Mittelelbe-Saale (Saxony-Anhalt region in Germany) cultures <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0105105#pone.0105105-Brandt1" target="_blank">[21]</a> have been used to generate a hierarchical Ward clustering. Linear Pottery culture (LBK), Rössen culture (RSC), Schöningen group (SCG), Baalberge culture (BAC), Salzmünde culture (SMC), Bernburg culture (BEC), Corded Ware culture (CWC), Bell Beaker culture (BBC), Unetice culture (UC), present-day Central European metapopulation (CEM) (N = 500). For further information, see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0105105#pone.0105105.s006" target="_blank">Table S3</a>. The <i>p-values</i> of the clusters are given in percentage of reproduced clusters based on 10,000 bootstrap replicates.</p

Correlation coefficients and <i>p-values</i> of the mtDNA haplogroups significantly correlated to the two principal axes in the PCA from the ancient populations.

<p>Correlation coefficients and <i>p-values</i> of the mtDNA haplogroups significantly correlated to the two principal axes in the PCA from the ancient populations.</p

El Mirador site in Atapuerca (Spain).

<p>El Mirador site in Atapuerca (Spain).</p

Mitochondrial DNA haplotype and haprogroup of El Mirador analysed samples.

<p>(1) Independently replicated in Florence laboratory.</p><p>(2) Mirador 5 and 9 correspond to two teeth from the same individual.</p

Principal component analysis of El Mirador and present-day African, Asian and European populations.

<p>Principal component analysis (PCA) based on mitochondrial haplogroup frequencies of El Mirador (MIR, yellow) and published present-day populations <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0105105#pone.0105105-Brandt1" target="_blank">[21]</a>: African/Asian (in blue, from darker to lighter North Africa, Southwest Asia, Central Asia, North Asia and Southwest Asia) and European (in green, from darker to lighter, Central, East, North, South, Southwest and West). For further information about populations, abbreviation and frequencies, see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0105105#pone.0105105.s004" target="_blank">Table S1</a>. The first three principal components display the 54.5% of the total variance.</p

Mitochondrial DNA haplogroup frequency for 21 ancient European samples.

<p>This study: El Mirador (MIR). Published prehistoric cultures <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0105105#pone.0105105-Brandt1" target="_blank">[21]</a>: Hunter-gatherer central (HGC), Linear Pottery culture (LBK), Rössen culture (RSC), Schöningen group (SCG), Baalberge culture (BAC), Salzmünde culture (SMC), Bernburg culture (BEC), Corded Ware culture (CWC), Bell Beaker culture (BBC), Unetice culture (UC), Funnel Beaker culture (FBC), Pitted Ware culture (PWC), Hunter-Gatherer south (HGS), (Epi) Cardial (CAR), Neolithic Portugal (NPO), Neolithic Basque Country and Navarre (NBQ), Treilles culture (TRE), Hunter-gatherer east (HGE), Bronze Age Siberia (BAS), Bronze Age Kazakhstan (BAK).</p

Principal component analysis of El Mirador and other prehistoric cultures.

<p>Principal component analysis (PCA) based on mitochondrial haplogroup frequencies of El Mirador (MIR) and 20 published prehistoric cultures <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0105105#pone.0105105-Brandt1" target="_blank">[21]</a>: Hunter-gatherer central (HGC), Linear Pottery culture (LBK), Rössen culture (RSC), Schöningen group (SCG), Baalberge culture (BAC), Salzmünde culture (SMC), Bernburg culture (BEC), Corded Ware culture (CWC), Bell Beaker culture (BBC), Unetice culture (UC), Funnel Beaker culture (FBC), Pitted Ware culture (PWC), Hunter-Gatherer south (HGS), (Epi) Cardial (CAR), Neolithic Portugal (NPO), Neolithic Basque Country and Navarre (NBQ), Treilles culture (TRE), Hunter-gatherer east (HGE), Bronze Age Siberia (BAS), Bronze Age Kazakhstan (BAK). Symbols indicate populations from Central Europe (circles), southern Scandinavia (triangles), the Iberian Peninsula (diamonds), and East Europe/Asia (squares). Colour indicates hunter-gatherer (grey), Early Neolithic (brown), Middle Neolithic (orange), and Late Neolithic/EBA (yellow) samples. For further information, see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0105105#pone.0105105.s005" target="_blank">Table S2</a>. The first two components display the 32.1% of the total variance.</p

Genealogical relationships between early medieval and modern inhabitants of Piedmont.

In the period between 400 to 800 AD, also known as the period of the Barbarian invasions, intense migration is documented in the historical record of Europe. However, little is known about the demographic impact of these historical movements, potentially ranging from negligible to substantial. As a pilot study in a broader project on Medieval Europe, we sampled 102 specimens from 5 burial sites in Northwestern Italy, archaeologically classified as belonging to Lombards or Longobards, a Germanic people ruling over a vast section of the Italian peninsula from 568 to 774. We successfully amplified and typed the mitochondrial hypervariable region I (HVR-I) of 28 individuals. Comparisons of genetic diversity with other ancient populations and haplotype networks did not suggest that these samples are heterogeneous, and hence allowed us to jointly compare them with three isolated contemporary populations, and with a modern sample of a large city, representing a control for the effects of recent immigration. We then generated by serial coalescent simulations 16 millions of genealogies, contrasting a model of genealogical continuity with one in which the contemporary samples are genealogically independent from the medieval sample. Analyses by Approximate Bayesian Computation showed that the latter model fits the data in most cases, with one exception, Trino Vercellese, in which the evidence was compatible with persistence up to the present time of genetic features observed among this early medieval population. We conclude that it is possible, in general, to detect evidence of genealogical ties between medieval and specific modern populations. However, only seldom did mitochondrial DNA data allow us to reject with confidence either model tested, which indicates that broader analyses, based on larger assemblages of samples and genetic markers, are needed to understand in detail the effects of medieval migration