Abstract
The proportion of Europeans descending from Neolithic farmers ∼10 thousand years ago (KYA) or Palaeolithic hunter-gatherers has been much debated. The male-specific region of the Y chromosome (MSY) has been widely applied to this question, but unbiased estimates of diversity and time depth have been lacking. Here we show that European patrilineages underwent a recent continent-wide expansion. Resequencing of 3.7 Mb of MSY DNA in 334 males, comprising 17 European and Middle Eastern populations, defines a phylogeny containing 5,996 single-nucleotide polymorphisms. Dating indicates that three major lineages (I1, R1a and R1b), accounting for 64% of our sample, have very recent coalescent times, ranging between 3.5 and 7.3 KYA. A continuous swathe of 13/17 populations share similar histories featuring a demographic expansion starting ∼2.1–4.2 KYA. Our results are compatible with ancient MSY DNA data, and contrast with data on mitochondrial DNA, indicating a widespread male-specific phenomenon that focuses interest on the social structure of Bronze Age Europe.
Highlights
The proportion of Europeans descending from Neolithic farmers B10 thousand years ago (KYA) or Palaeolithic hunter-gatherers has been much debated
Palaeolithic dates for the major lineages are challenged by scanty ancient male-specific region of the Y chromosome (MSY) DNA data, which suggest a marked discontinuity between 5–7 KYA and the present[14]
Next-generation sequencing (NGS) generally offers unbiased ascertainment of MSY single-nucleotide polymorphisms (SNPs), providing phylogenies in which topologies inform about past demography, and branch lengths are in principle proportional to time, avoiding dating problems associated with short-tandem repeats (STRs)
Summary
The proportion of Europeans descending from Neolithic farmers B10 thousand years ago (KYA) or Palaeolithic hunter-gatherers has been much debated. Analyses of diversity in the male-specific region of the Y chromosome (MSY) show significant frequency clines in major lineages[7], and geographical distributions and dates based on short-tandem repeats (STRs) have led to interpretations of both Palaeolithic[8] and Neolithic[9] major components. Next-generation sequencing (NGS) generally offers unbiased ascertainment of MSY SNPs, providing phylogenies in which topologies inform about past demography, and branch lengths are in principle proportional to time, avoiding dating problems associated with STRs. Some insights have emerged from recent work[15,16], but no systematic population-based NGS study across Europe has yet been undertaken. Together with other data on maternally inherited mtDNA16,18 and autosomal DNA19, our results indicate a recent widespread male-specific phenomenon that may point to social selection, and refocuses interest on the social and population structure of Bronze Age Europe
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