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. 2013:4:2543.
doi: 10.1038/ncomms3543.

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

Marta D Costa  1 , Joana B Pereira, Maria Pala, Verónica Fernandes, Anna Olivieri, Alessandro Achilli, Ugo A Perego, Sergei Rychkov, Oksana Naumova, Jiři Hatina, Scott R Woodward, Ken Khong Eng, Vincent Macaulay, Martin Carr, Pedro Soares, Luísa Pereira, Martin B Richards
Affiliations

A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

Marta D Costa et al. Nat Commun. 2013.

Abstract

The origins of Ashkenazi Jews remain highly controversial. Like Judaism, mitochondrial DNA is passed along the maternal line. Its variation in the Ashkenazim is highly distinctive, with four major and numerous minor founders. However, due to their rarity in the general population, these founders have been difficult to trace to a source. Here we show that all four major founders, ~40% of Ashkenazi mtDNA variation, have ancestry in prehistoric Europe, rather than the Near East or Caucasus. Furthermore, most of the remaining minor founders share a similar deep European ancestry. Thus the great majority of Ashkenazi maternal lineages were not brought from the Levant, as commonly supposed, nor recruited in the Caucasus, as sometimes suggested, but assimilated within Europe. These results point to a significant role for the conversion of women in the formation of Ashkenazi communities, and provide the foundation for a detailed reconstruction of Ashkenazi genealogical history.

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Figures

Figure 1
Figure 1. Inferred ancestry of the main subclades within haplogroup U8.
The timescale (ka) is based on ML estimations for mitogenomes. Inset: Bayesian skyline plot of 34 Ashkenazi haplogroup K lineages, showing growth in effective population size (Nef) over time.
Figure 2
Figure 2. Phylogenetic tree of haplogroup K1a1b1.
Time scale (ka) based on ML estimations for mitogenome sequences.
Figure 3
Figure 3. Phylogenetic tree of haplogroup K1a9 in the context of the putative clade K1a9′10′15′26′30.
Time scale (ka) based on ML estimations for mitogenome sequences.
Figure 4
Figure 4. Phylogenetic tree of haplogroup K2a2.
Time scale (ka) based on ML estimations for mitogenome sequences.
Figure 5
Figure 5. Phylogenetic tree of haplogroup HV1b.
Time scale (ka) based on ML estimations for mitogenome sequences.
Figure 6
Figure 6. Phylogenetic tree of haplogroup N1b.
Time scale (ka) based on ML estimations for mitogenome sequences.
Figure 7
Figure 7. Schematic phylogenetic tree of haplogroup H1.
Only the Ashkenazi lineages are shown in full detail; the distribution of other lineages is indicated using small squares by the number present in the full tree for each subclade. Prehistoric European (all Neolithic, except for the H1aw lineage, which dates to the Iron Age) lineages are shown using red circles.
Figure 8
Figure 8. Phylogenetic tree of Ashkenazi founders within haplogroup H6a1a.
Time scale (ka) based on ML estimations for mitogenome sequences. A Late Neolithic Corded Ware lineage from central Europe is shown in red emerging directly from the root.
Figure 9
Figure 9. Schematic phylogenetic tree of haplogroup J1c.
Only the Ashkenazi lineages are shown in full detail; the distribution of other lineages is indicated using small squares for each subclade with the number present in the full tree given in each case. For the full tree see Pala et al. Time scale (ka) based on ML estimations for mitogenome sequences.
Figure 10
Figure 10. Estimated contributions of European mtDNA lineages to the Ashkenazi mtDNA pool shown by major haplogroup.
The possible overall Near Eastern contribution and fraction of unassigned lineages are also indicated.
See this image and copyright information in PMC

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