A predominantly neolithic origin for European paternal lineages

Abstract

The relative contributions to modern European populations of Paleolithic hunter-gatherers and Neolithic farmers from the Near East have been intensely debated. Haplogroup R1b1b2 (R-M269) is the commonest European Y-chromosomal lineage, increasing in frequency from east to west, and carried by 110 million European men. Previous studies suggested a Paleolithic origin, but here we show that the geographical distribution of its microsatellite diversity is best explained by spread from a single source in the Near East via Anatolia during the Neolithic. Taken with evidence on the origins of other haplogroups, this indicates that most European Y chromosomes originate in the Neolithic expansion. This reinterpretation makes Europe a prime example of how technological and cultural change is linked with the expansion of a Y-chromosomal lineage, and the contrast of this pattern with that shown by maternally inherited mitochondrial DNA suggests a unique role for males in the transition.

Figure 1. Maps showing dates of the spread of early farming in Europe, and the frequency and microsatellite variance of haplogroup R1b1b2.

(A) Isochron map representing dates of early Neolithic sites in Europe, based on data of Pinhasi et al. (2005) . KYBP, thousand years before present. (B) Geographical distribution of haplogroup frequency of hgR1b1b2, shown as an interpolated spatial frequency surface. Filled circles indicate populations for which microsatellite data and TMRCA estimates are available. Unfilled circles indicate populations included to illustrate R1b1b2 frequency only. Population codes are defined in Table 1. (C) Geographical distribution of mean microsatellite variance within hgR1b1b2, shown as an interpolated spatial frequency surface. Samples shown are those used for the calculation of variance only.

Figure 2. Relationship of diversity among 840 R1b1b2 chromosomes with (A) longitude and (B) latitude.

Population codes are defined in Table 1.

Figure 3. Reduced median network of microsatellite haplotypes within haplogroup R1b1b2.

Molecular relationships between the nine-locus microsatellite haplotypes of 849 hgR1b1b2 chromosomes, including seven Serbian and two Greek haplotypes not included in the other analyses because population sample sizes were too small. Circles represent haplotypes, with area proportional to frequency and coloured according to population. Lines between circles represent microsatellite mutational steps.

Figure 4. Correlation of dates of Neolithic sites with hgR1b1b2 (A) frequency and (B) variance.

Population codes are defined in Table 1. YBP, years before present.