Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ

• Published in: Scientific reports Vol. 7; no. 1; pp. 7341 - 13
• Main Authors: Solé-Morata, Neus, Villaescusa, Patricia, García-Fernández, Carla, Font-Porterias, Neus, Illescas, María José, Valverde, Laura, Tassi, Francesca, Ghirotto, Silvia, Férec, Claude, Rouault, Karen, Jiménez-Moreno, Susana, Martínez-Jarreta, Begoña, Pinheiro, Maria Fátima, Zarrabeitia, María T., Carracedo, Ángel, de Pancorbo, Marian M., Calafell, Francesc
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 04.08.2017; Nature Publishing Group; Nature Portfolio
• Subjects: 45/22; 45/23; 45/77; 631/181/19/2471; 631/208/457/649; Alleles; Chromosomes; Chromosomes, Human, Y; Cromosoma Y; Gene Frequency; Genetic Variation; Genetics, Population; Genomes; Genòmica; Haplotypes; Humanities and Social Sciences; Humans; Legal medicine; Male; Medicine; multidisciplinary; Neolithic; Phylogenetics; Phylogeny; Polymorphism, Single Nucleotide; Science; Science (multidisciplinary); Short tandem repeats; White People - genetics; Y chromosomes; France
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-017-07710-x

Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 R1b-DF27 chromosomes for six additional SNPs and 17 Y-STRs in population samples from Spain, Portugal and France in order to further characterize this lineage and, in particular, to ascertain the time and place where it originated, as well as its subsequent dynamics. We found that R1b-DF27 is present in frequencies ~40% in Iberian populations and up to 70% in Basques, but it drops quickly to 6–20% in France. Overall, the age of R1b-DF27 is estimated at ~4,200 years ago, at the transition between the Neolithic and the Bronze Age, when the Y chromosome landscape of W Europe was thoroughly remodeled. In spite of its high frequency in Basques, Y-STR internal diversity of R1b-DF27 is lower there, and results in more recent age estimates; NE Iberia is the most likely place of origin of DF27. Subhaplogroup frequencies within R1b-DF27 are geographically structured, and show domains that are reminiscent of the pre-Roman Celtic/Iberian division, or of the medieval Christian kingdoms.