A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe

Abstract

The phylogenetic relationships of numerous branches within the core Y-chromosome haplogroup R-M207 support a West Asian origin of haplogroup R1b, its initial differentiation there followed by a rapid spread of one of its sub-clades carrying the M269 mutation to Europe. Here, we present phylogeographically resolved data for 2043 M269-derived Y-chromosomes from 118 West Asian and European populations assessed for the M412 SNP that largely separates the majority of Central and West European R1b lineages from those observed in Eastern Europe, the Circum-Uralic region, the Near East, the Caucasus and Pakistan. Within the M412 dichotomy, the major S116 sub-clade shows a frequency peak in the upper Danube basin and Paris area with declining frequency toward Italy, Iberia, Southern France and British Isles. Although this frequency pattern closely approximates the spread of the Linearbandkeramik (LBK), Neolithic culture, an advent leading to a number of pre-historic cultural developments during the past r10 thousand years, more complex pre-Neolithic scenarios remain possible for the L23(xM412) components in Southeast Europe and elsewhere.

New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia

“…The obtained coalescence times and frequency distribution patterns led them to conclude that the current distribution of M269 sublineages is owing to allele surfing at the periphery of the westwards expansion of M269. Therefore, Myres et al 9 proposed the origin of M269 in Eastern Europe, similar to Balaresque et al, 6 but earlier during the Mesolithic period.…”

“…7 The dissection of haplogroup M269 has shown a wide range of European areas possessing geographically located subhaplogroup expansions, 8,9 which provides useful information for reconstructing the phylogeographic history of this lineage. However, the study of these sublineages, far from helping to find a consensus about the origin, growth and history of this great lineage, has increased the controversy.…”

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88

“…39,40 Although Balaresque et al 41 proposed the hypothesis of a European spread of haplogroup R1b1b2-M269 during the Neolithic, the distribution of the M269 sub-haplogroups and their Y-STR diversities proved to be compatible with a pre-Neolithic diffusion of M269 in Europe. 42,43 The reported high frequencies of this haplogroup in Central-West Africa led to the proposal of a 'back to Africa' migration as the justification for the otherwise unexpected presence of this haplogroup in the region.…”

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

“…[6][7][8][9][10][11][12][13] Y-chromosome haplogroup R (hg R) is one of 20 that comprise the standardized global phylogeny. 14 It consists of two main components: R1-M173 and R2-M479 15 (Figure 1). Within R1-M173, most variation extant in Eurasia is confined to R1a-M420 and R1b-M343.…”

“…3,[18][19][20][21] More than 10% of men in a region extending from South Asia to Scandinavia share a common ancestor in hg R1a-M420, and the vast majority fall within the R1a1-M17/M198 subclade. 22 Although the phylogeography of R1b-M343 has been described, especially in Western and Central Europe, 15,[23][24][25] R1a1 has remained poorly characterized. Previous work has been limited to a Europeanspecific subgroup defined by the single-nucleotide polymorphism (SNP) called M458.…”