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The mitogenome portrait of Umbria in Central Italy as depicted by contemporary ...

Modi, A; Lancioni, H; Cardinali, I; Capodiferro, MR; Rambaldi Migliore, N; Hussein, A; Strobl, C; Bodner, M; Schnaller, L; Xavier, C; Rizzi, E

Umbria is located in Central Italy and took the name from its ancient inhabitants, the Umbri, whose origins are still debated. Here, we investigated the mitochondrial DNA (mtDNA) variation of 545 present-day Umbrians (with 198 entire mitogenomes) and 28 pre-Roman individuals (obtaining 19 ancient mtDNAs) excavated from the necropolis of Plestia. We found a rather homogeneous distribution of western Eurasian lin...


Population structure of modern-day Italians reveals patterns of ancient and arc...

Raveane, A; Aneli, S; Montinaro, F; Athanasiadis, G; Barlera, S; Birolo, G; Boncoraglio, G; Di, Blasio, AM; Di, Gaetano, C; Pagani, L; Parolo, S

European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expect...


Origin and spread of mitochondrial DNA haplogroup U7

Sahakyan, H; Kashani, BH; Tamang, R; Kushniarevich, A; Francis, A; Costa, MD; Pathak, AK; Khachatryan, Z; Sharma, I; van Oven, M; Parik, J

Human mitochondrial DNA haplogroup U is among the initial maternal founders in Southwest Asia and Europe and one that best indicates matrilineal genetic continuity between late Pleistocene huntergatherer groups and present-day populations of Europe. While most haplogroup U subclades are older than 30 thousand years, the comparatively recent coalescence time of the extant variation of haplogroup U7 (~16–19 thous...


A substantial prehistoric European ancestry amongst Ashkenazi maternal lineages

Costa, MD; Pereira, JB; Pala, M; Fernandes, V; Olivieri, A; Achilli, A; Perego, UA; Rychkov, S; Naumova, O; Hatina, J; Woodward, SR; Eng, KK

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 variatio...


Mitochondrial DNA signals of Late Glacial recolonization of Europe from Near Ea...

Pala, M; Olivieri, A; Achilli, A; Accetturo, M; Metspalu, E; Reidla, M; Tamm, E; Karmin, M; Reisberg, T; Hooshiar Kashani, B; Perego, UA; Carossa, V

Human populations, along with those of many other species, are thought to have contracted into a number of refuge areas at the height of the last Ice Age. European populations are believed to be, to a large extent, the descendants of the inhabitants of these refugia, and some extant mtDNA lineages can be traced to refugia in Franco-Cantabria (haplogroups H1, H3, V, and U5b1), the Italian Peninsula (U5b3), and t...


Mitochondrial genomes from modern horses reveal the major haplogroups that unde...

Achilli, A; Olivieri, A; Soares, P; Lancioni, H; Kashani, BH; Perego, UA; Nergadze, SG; Carossa, V; Santagostino, M; Capomaccio, S; Felicetti, M

Archaeological and genetic evidence concerning the time and mode of wild horse (Equus ferus) domestication is still debated. High levels of genetic diversity in horse mtDNA have been detected when analyzing the control region; recurrent mutations, however, tend to blur the structure of the phylogenetic tree. Here, we brought the horse mtDNA phylogeny to the highest level of molecular resolution by analyzing 83 ...


The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event

Behar, DM; Metspalu, E; Kivisild, T; Achilli, A; Hadid, Y; Tzur, S; Pereira, L; Amorim, A; Quintana-Murci, L; Majamaa, K; Herrnstadt, C; Howell, N

Both the extent and location of the maternal ancestral deme from which the Ashkenazi Jewry arose remain obscure. Here, using complete sequences of the maternally inherited mitochondrial DNA (mtDNA), we show that close to one-half of Ashkenazi Jews, estimated at 8,000,000 people, can be traced back to only 4 women carrying distinct mtDNAs that are virtually absent in other populations, with the important excepti...


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