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Origin and spread of human mitochondrial DNA haplogroup U7

Sahakyan, Hovhannes; Hooshiar Kashani, Baharak; Tamang, Rakesh; Kushniarevich, Alena; Francis, Amirtharaj; Costa, Marta D.; Pathak, Ajai Kumar

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 hunter-gatherer 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 thou...


Genomic insights into the peopling of the Southwest Pacific

Skoglund, Pontus; Posth, Cosimo; Sirak, Kendra; Spriggs, Matthew; Valentin, Frédérique; Bedford, Stuart; Clark, Geoffrey R.; Reepmeyer, Christian


Y-chromosome lineages from Portugal, Madeira and Açores record elements of seph...

Gonçalves, Rita; Freitas, Ana; Branco, Marta; Rosa, Alexandra; Fernandes, Ana T.; Zhivotovsky, Lev A.; Underhill, Peter A.; Kivisild, Toomas

A total of 553 Y-chromosomes were analyzed from mainland Portugal and the North Atlantic Archipelagos of Ac¸ores and Madeira, in order to characterize the genetic composition of their male gene pool. A large majority (78–83% of each population) of the male lineages could be classified as belonging to three basic Y chromosomal haplogroups, R1b, J, and E3b. While R1b, accounting for more than half of the lineages...


Phylogeography of Y-chromosome haplogroup I reveals distinct domains of Prehist...

Rootsi, Siiri; Kivisild, Toomas; Benuzzi, Giorgia; Help, Hela; Bermisheva, Marina; Kutuev, Ildus; Barać, Lovorka; Peričić, Marijana; Balanovsky, Oleg

To investigate which aspects of contemporary human Y-chromosome variation in Europe are characteristic of primary colonization, late-glacial expansions from refuge areas, Neolithic dispersals, or more recent events of gene flow, we have analyzed, in detail, haplogroup I (Hg I), the only major clade of the Y phylogeny that is widespread over Europe but virtually absent elsewhere. The analysis of 1,104 Hg I Y chr...


MtDNA profile of West Africa Guineans: towards a better understanding of the Se...

Rosa, Alexandra; Brehm, António; Kivisild, Toomas; Metspalu, Ene; Villems, Richard

The matrilineal genetic composition of 372 samples from the Republic of Guiné-Bissau (West African coast) was studied using RFLPs and partial sequencing of the mtDNA control and coding region. The majority of the mtDNA lineages of Guineans (94%) belong to West African specific sub-clusters of L0-L3 haplogroups. A new L3 sub-cluster (L3h) that is found in both eastern and western Africa is present at moderately ...


Ethiopian mitochondrial DNA heritage: tracking gene flow across and around the ...

Kivisild, Toomas; Reidla, Maere; Metspalu, Ene; Rosa, Alexandra; Brehm, António; Pennarun, Erwan; Parik, Jüri; Geberhiwot, Tarekegn; Usanga, Esien

Approximately 10 miles separate the Horn of Africa from the Arabian Peninsula at Bab-el-Mandeb (the Gate of Tears). Both historic and archaeological evidence indicate tight cultural connections, over millennia, between these two regions. High-resolution phylogenetic analysis of 270 Ethiopian and 115 Yemeni mitochondrial DNAs was performed in a worldwide context, to explore gene flow across the Red and Arabian S...


Y-chromosome lineages in Cabo Verde Islands witness the diverse geographic orig...

Gonçalves, Rita; Rosa, Alexandra; Freitas, Ana; Fernandes, Ana; Kivisild, Toomas; Villems, Richard; Brehm, António

The Y-chromosome haplogroup composition of the population of the Cabo Verde Archipelago was profiled by using 32 single-nucleotide polymorphism markers and compared with potential source populations from Iberia, west Africa, and the Middle East. According to the traditional view, the major proportion of the founding population of Cabo Verde was of west African ancestry with the addition of a minor fraction of m...


Mitochondrial portraits of the Madeira and Açores archipelagos witness differen...

Brehm, António; Pereira, Luísa; Kivisild, Toomas; Amorim, António

We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of slaves across the Atlantic. One hundred and fifty-five mtDNAs sampled from the Madeira and 179 fr...


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