title: Male Lineages in Brazil: Intercontinental Admixture and Stratification of the European Background.
abstract: The non-recombining nature of the Y chromosome and the well-established phylogeny of Y-specific Single Nucleotide Polymorphisms (Y-SNPs) make them useful for defining haplogroups with high geographical specificity; therefore, they are more apt than the Y-STRs to detect population stratification in admixed populations from diverse continental origins. Different Y-SNP typing strategies have been described to address issues of population history and movements within geographic territories of interest. In this study, we investigated a set of 41 Y-SNPs in 1217 unrelated males from the five Brazilian geopolitical regions, aiming to disclose the genetic structure of male lineages in the country. A population comparison based on pairwise FST genetic distances did not reveal statistically significant differences in haplogroup frequency distributions among populations from the different regions. The genetic differences observed among regions were, however, consistent with the colonization history of the country. The sample from the Northern region presented the highest Native American ancestry (8.4%), whereas the more pronounced African contribution could be observed in the Northeastern population (15.1%). The Central-Western and Southern samples showed the higher European contributions (95.7% and 93.6%, respectively). The Southeastern region presented significant European (86.1%) and African (12.0%) contributions. The subtyping of the most frequent European lineage in Brazil (R1b1a-M269) allowed differences in the genetic European background of the five Brazilian regions to be investigated for the first time.
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Brazil.|Laboratório de Toxicologia e Química Farmacêutica, Departamento de Ciências da Saúde e Biológicas, Universidade Federal do Amapá, Macapá, Brazil.
authors.forename: Rafael
authors.initials: R
authors.lastname: Resque
authors.affiliation: DNA Diagnostic Laboratory (LDD), Institute of Biology, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.|IPATIMUP-Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.|Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
authors.affiliation: Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Maria
authors.initials: M
authors.lastname: Geppert
authors.affiliation: Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Lutz
authors.initials: L
authors.lastname: Roewer
authors.affiliation: Laboratório de Genética Forense, Instituto de Criminalística, Centro de Perícias Científicas Renato Chaves, Belém, Pará, Brasil.
authors.forename: Teresinha
authors.initials: T
authors.lastname: Palha
authors.affiliation: IPATIMUP-Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.|Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
authors.forename: Luis
authors.initials: L
authors.lastname: Alvarez
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Brazil.|Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil.
authors.forename: Ândrea
authors.initials: Â
authors.lastname: Ribeiro-dos-Santos
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Brazil.|Núcleo de Pesquisas em Oncologia, Universidade Federal do Pará, Belém, Brazil.
authors.forename: Sidney
authors.initials: S
authors.lastname: Santos
mesh_terms: D044383:Black People / Q000235:genetics*; D001938:Brazil; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*