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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...


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...


Population expansion in the North Africa Late Pleistocene signalled by mitochon...

Pereira, L; Silva, NM; Franco-Duarte, R; Fernandes, V; Pereira, JB; Costa, MD; Martins, H; Soares, P; Behar, DM; Richards, MB; Macaulay, V

BACKGROUND: The archaeology of North Africa remains enigmatic, with questions of population continuity versus discontinuity taking centre-stage. Debates have focused on population transitions between the bearers of the Middle Palaeolithic Aterian industry and the later Upper Palaeolithic populations of the Maghreb, as well as between the late Pleistocene and Holocene. RESULTS: Improved resolution of the mitocho...


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...


Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a E...

Pereira, L; Richards, M; Goios, A; Alonso, A; Albarrán, C; Garcia, O; Behar, DM; Gölge, M; Hatina, J; Al-Gazali, L; Bradley, DG; Macaulay, V; Amorim, A

The impact of phylogeographic information on mtDNA forensics has been limited to the quality control of published sequences and databases. In this work we use the information already available on Eurasian mtDNA phylogeography to guide the choice of coding-region SNPs for haplogroup H. This sub-typing is particularly important in forensics since, even when sequencing both HVRI and HVRII, the discriminating power...


High-resolution mtDNA evidence for the late-glacial resettlement of Europe from...

Pereira, L; Richards, M; Goios, A; Alonso, A; Albarrán, C; Garcia, O; Behar, DM; Gölge, M; Hatina, J; Al-Gazali, L; Bradley, DG; Macaulay, V; Amorim, A

The advent of complete mitochondrial DNA (mtDNA) sequence data has ushered in a new phase of human evolutionary studies. Even quite limited volumes of complete mtDNA sequence data can now be used to identify the critical polymorphisms that define sub-clades within an mtDNA haplogroup, providing a springboard for large-scale high-resolution screening of human mtDNAs. This strategy has in the past been applied to...


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