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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...


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...


The genome-wide structure of the Jewish people

Behar, DM; Yunusbayev, B; Metspalu, M; Metspalu, E; Rosset, S; Parik, J; Rootsi, S; Chaubey, G; Kutuev, I; Yudkovsky, G; Khusnutdinova, EK

Contemporary Jews comprise an aggregate of ethno-religious communities whose worldwide members identify with each other through various shared religious, historical and cultural traditions. Historical evidence suggests common origins in the Middle East, followed by migrations leading to the establishment of communities of Jews in Europe, Africa and Asia, in what is termed the Jewish Diaspora. This complex demog...


The dawn of human matrilineal diversity

Behar, DM; Villems, R; Soodyall, H; Blue-Smith, J; Pereira, L; Metspalu, E; Scozzari, R; Makkan, H; Tzur, S; Comas, D; Bertranpetit, J

The quest to explain demographic history during the early part of human evolution has been limited because of the scarce paleoanthropological record from the Middle Stone Age. To shed light on the structure of the mitochondrial DNA (mtDNA) phylogeny at the dawn of Homo sapiens, we constructed a matrilineal tree composed of 624 complete mtDNA genomes from sub-Saharan Hg L lineages. We paid particular attention t...


Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora

Behar, DM; Metspalu, E; Kivisild, T; Rosset, S; Tzur, S; Hadid, Y; Yudkovsky, G; Rosengarten, D; Pereira, L; Amorim, A; Kutuev, I; Gurwitz, D

The history of the Jewish Diaspora dates back to the Assyrian and Babylonian conquests in the Levant, followed by complex demographic and migratory trajectories over the ensuing millennia which pose a serious challenge to unraveling population genetic patterns. Here we ask whether phylogenetic analysis, based on highly resolved mitochondrial DNA (mtDNA) phylogenies can discern among maternal ancestries of the D...


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...


Y-chromosomal diversity in Europe is clinal and influenced primarily by geograp...

Rosser, ZH; Zerjal, T; Hurles, ME; Adojaan, MA; Alavantic, D; Amorim, A; Amos, W; Armenteros, M; Arroyo, E; Barbujani, G; Beckman, L; Bertranpetit, J

Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sa...


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