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Free Content Y-chromosome Lineages from Portugal, Madeira and Açores Record Elements of Sephardim and Berber Ancestry

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Summary

A total of 553 Y-chromosomes were analyzed from mainland Portugal and the North Atlantic Archipelagos of Açores 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 in any of the Portuguese sub-populations, is a characteristic marker of many different West European populations, haplogroups J and E3b consist of lineages that are typical of the circum-Mediterranean region or even East Africa. The highly diverse haplogroup E3b in Portuguese likely combines sub-clades of distinct origins. The present composition of the Y chromosomes in Portugal in this haplogroup likely reflects a pre-Arab component shared with North African populations or testifies, at least in part, to the influence of Sephardic Jews. In contrast to the marginally low sub-Saharan African Y chromosome component in Portuguese, such lineages have been detected at a moderately high frequency in our previous survey of mtDNA from the same samples, indicating the presence of sex-related gene flow, most likely mediated by the Atlantic slave trade.
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Keywords: Portuguese; SNP; STR; Y-chromosome

Document Type: Research Article

Affiliations: 1: Human Genetics Laboratory, University of Madeira, Campus of Penteada, 9000-390 Funchal, Portugal 2: Vavilov Institute of General Genetics, Russian Academy of Science, 3 Gubkin St., Moscow 119991, Russia 3: Department of Genetics, Stanford University, Stanford, California 94305-5120 4: Department of Evolutionary Biology - Estonian Biocentre,Tartu University, Riia 23-51010 Tartu, Estonia

Publication date: 01 July 2005

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