European Journal of Human Genetics 3/24/2016
New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia
Abstract
The dissection of S116 in more than 1500 individuals from Atlantic Europe and the Iberian Peninsula has provided important clues about the controversial evolutionary history of M269. First, the results do not point to an origin of M269 in the Franco–Cantabrian refuge, owing to the lack of sublineage diversity within M269, which supports the new theories proposing its origin in Eastern Europe. Second, S116 shows frequency peaks and spatial distribution that differ from those previously proposed, indicating an origin farther west, and it also shows a high frequency in the Atlantic coastline. Third, an outstanding frequency of the DF27 sublineage has been found in Iberia, with a restricted distribution pattern inside this peninsula and a frequency maximum in the area of the Franco–Cantabrian refuge. This entire panorama indicates an old arrival of M269 into Western Europe, because it has generated at least two episodes of expansion in the Franco–Cantabrian area. This study demonstrates the importance of continuing the dissection of the M269 lineage in different European populations because the discovery and study of new sublineages can adjust or even completely revise the theories about European peopling, as has been the case for the place of origin of M269.
Introduction
The current genetic makeup of Europe is the result of many population migrations and settlements influenced principally by climate, cultural progress and the historical conquests of territory.1, 2 The genetic evidence provided by the analysis of the Y chromosome (Ychr), which is a valuable tool for the study of the evolution of the paternal lineages because of its uniparental mode of inheritance, has revealed that a large majority of the individuals currently in Central and Western Europe (40–90%) belong to a single lineage, R-M269.2, 3 The lineage M269 has its maximum frequency in the Franco–Cantabrian area, and it shows a cline of decreasing frequency with distance. This has led to numerous theories about the role of the Franco–Cantabrian region in European genetic history.
To date, the most widely accepted theories have argued that this pattern of frequencies may be the result of origin in, and subsequent postglacial expansion from, the Franco–Cantabrian refuge.2, 3, 4 Another theory, based on the variance of Y-STR haplotypes within M269, also supports its postglacial expansion but argues that M269 could have had a parallel expansion from a refuge in Eastern Europe (Anatolia).5 The new theory proposed by Balaresque et al,6 based on the higher diversity of Y-STR haplotypes in Eastern European M269 individuals than in Western European ones, concludes that there is a single origin for haplogroup M269 in Eastern Europe. In addition, the Balaresque et al6 theory shifts the origin from the glacial period to the Neolithic, because they apply germinal mutation rates rather than evolutionary, generating younger coalescence times.
The arrival of M269 from Eastern Europe proposed by Balaresque et al6 has been strongly refuted by Busby et al.7 Busby et al recalculated the diversity of Y-STRs haplotypes within M269 in a larger and geographically broader sample, indicating not higher diversity in Eastern Europe but a homogeneous background of microsatellite variation in the whole European sample.7
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More:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755366/
