Ancient human genomes suggest three ancestral populations for present-day Europeans

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Ancient human genomes suggest three ancestral populations for present-day Europeans

Iosif Lazaridis et al.

Analysis of ancient DNA can reveal historical events that are difficult to discern through study of present-day individuals. To investigate European population history around the time of the agricultural transition, we sequenced complete genomes from a ~7,500 year old early farmer from the Linearbandkeramik (LBK) culture from Stuttgart in Germany and an ~8,000 year old hunter-gatherer from the Loschbour rock shelter in Luxembourg. We also generated data from seven ~8,000 year old hunter-gatherers from Motala in Sweden. We compared these genomes and published ancient DNA to new data from 2,196 samples from 185 diverse populations to show that at least three ancestral groups contributed to present-day Europeans. The first are Ancient North Eurasians (ANE), who are more closely related to Upper Paleolithic Siberians than to any present-day population. The second are West European Hunter-Gatherers (WHG), related to the Loschbour individual, who contributed to all Europeans but not to Near Easterners. The third are Early European Farmers (EEF), related to the Stuttgart individual, who were mainly of Near Eastern origin but also harbored WHG-related ancestry. We model the deep relationships of these populations and show that about ~44% of the ancestry of EEF derived from a basal Eurasian lineage that split prior to the separation of other non-Africans.

biorxiv.org/content/early/2013/12/23/001552

Stuttgart - female - mtDNA haplogroup T2
Loschbour and all Motala individuals - mtDNA haplogroups U5 and U2. 


From Supplemental Information 5:
---
Loschbour belonged to Y chromosome haplogroup I2a1b, defined by two mutations M423 and L178 [and ancestral at M359.2 L161.1 L621].
...
Motala2 (Table S5.3) belongs to Y-haplogroup I on the basis of three mutations [and ancestral at M253 L621 L37].
...
Motala3 (Table S5.4) belongs to Y-haplogroup I2 on the basis of L68+ [and ancestral at M26 L181 L417], with three additional mutations placing it in Y-haplogroup I.
...
Motala6 was L55+, placing it in Y-haplogroup Q1a2a, but L232-, which contradicts the hypothesis that it belongs to haplogroup Q1. These two observations are 
phylogenetically inconsistent, and we are unable to assign a haplogroup to this individual.

Motala9 (Table S5.5) belongs to Y-haplogroup I on the basis of P38+ but not on the I1 branch on the basis of P40-.
...
Motala12 (Table S5.6) belonged to Y-haplogroup I2a1b on the basis of L178+ and was L621- and M359.2- and thus assigned to I2a1b*(xI2a1b1, I2a1b3).

Neither Stuttgart nor Loschbour could digest milk into adulthood. Both had a >99% probability of dark hair. Loschbour probably had darker skin than Stuttgart, and Loschbour had a >50% probability of blue eyes while Stuttgart had a >99% probability of brown eyes (SI7).
 

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