To investigate European introgression into Ashkenazi Jewry, the European-dominant haplogroup H mitochondrial DNA was examined. The results provided genetic evidence that gene flow between Jewish and non-Jewish populations occurred early in Jewish settlement in Europe with isolation of the groups thereafter. We targeted branch H7 and found three Ashkenazi Jewish clades, two that were not previously recognized as Jewish (H7e, H7c2) and one newly identified group (tentatively H7j) characterized by 1700C and 152C transitions. A total of 100 new complete mitochondrial DNA sequences (mitogenomes) are reported, including the largest collection of H7e to date. H7e is a deeply nested clade with several subclades; more than 85% of the carriers had Ashkenazi maternal ancestry from such diverse areas as Germany and Austria in Western Europe, Poland, and the Baltic states in Central Europe, and Moldova, Ukraine and Belarus in Eastern Europe. Between 10% and 15% of the carriers had European non-Jewish ancestry which, strikingly, showed the greatest number of mutational differences from ancestral H7e. Moreover, there was no overlap with the Jewish-affiliated sequences other than at the ancestral node. Earlier research proposing early mixing followed by isolation has relied on less direct inferences. The smaller groups of H7c2 and H7j were exclusively Ashkenazi Jewish, with interesting sequence patterns. H7c2 consisted of a number of non-nested sister branches, reflecting recent expansion in a large population, while H7j showed a possible in-progress vanishing of the ancestral group, well on its way to mothering an orphan node. The severe bottleneck and subsequent population explosion in the Ashkenazim provide a unique opportunity to view haplogroups in all states of evolution and provide a window into the Mediterranean–Hellenistic world of antiquity.
- Yacobi, D. & Bedford, F.L. (2016). Evidence of early gene flow between Ashkenazi Jews and non-Jewish Europeans in mitochondrial DNA haplogroup H7. Journal of Genetic Genealogy, 8, -.
Peoples: Ashkenazi Jews | Places: Belarus, Moldova, and Ukraine | Topics: Jewish maternal ancestry | DNA Type: mtDNA