2005/04/19 by Rita Gonçalves, Ana I. Freitas, Marta Branco +6 · 5 citations
Biochemistry, Genetics and Molecular Biology · Social Sciences · #Forensic and Genetic Research #Genetic diversity and population structure #Colonialism, slavery, and trade #Haplogroup #Archipelago #Gene pool #Y chromosome #Gene flow #Biology #Population #Portuguese #Evolutionary biology #Genetics #Geography #Haplotype #Genetic variation #Allele #Gene #Demography #Genetic diversity #Ecology
paper · doi:10.1111/j.1529-8817.2005.00161.x
openalex publication_date 2005/04/19 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28
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.