Y-chromosome lineages from Portugal, Madeira and Açores record elements of Sephardim and Berber ancestry.
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.
Human Genetics Laboratory, University of Madeira, Campus of Penteada, 9000-390 Funchal, Portugal.
Rita
R
Gonçalves
Ana
A
Freitas
Marta
M
Branco
Alexandra
A
Rosa
Ana T
AT
Fernandes
Lev A
LA
Zhivotovsky
Peter A
PA
Underhill
Toomas
T
Kivisild
António
A
Brehm
D017954:Africa South of the Sahara; D000352:Africa, Northern; D041322:Chromosomes, Human, Y / Q000235:genetics*; D019143:Evolution, Molecular; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008297:Male; D011174:Portugal; D025341:Principal Component Analysis; D020080:Tandem Repeat Sequences