Y chromosomes of 40% Chinese descend from three Neolithic super-grandfathers

Abstract

Demographic change of human populations is one of the central questions for delving into the past of human beings. To identify major population expansions related to male lineages, we sequenced 78 East Asian Y chromosomes at 3.9 Mbp of the non-recombining region, discovered >4,000 new SNPs, and identified many new clades. The relative divergence dates can be estimated much more precisely using a molecular clock. We found that all the Paleolithic divergences were binary; however, three strong star-like Neolithic expansions at ∼6 kya (thousand years ago) (assuming a constant substitution rate of 1×10(-9)/bp/year) indicates that ∼40% of modern Chinese are patrilineal descendants of only three super-grandfathers at that time. This observation suggests that the main patrilineal expansion in China occurred in the Neolithic Era and might be related to the development of agriculture.

Figure 1. Phylogenetic tree of human Y chromosome, emphasizing the three star-like expansions (Oα, Oβ, Oγ).

The tree was constructed from 78 samples sequenced in this study, together with three published East-Asian genomes and a chimpanzee genome. The branch lengths (horizontal lines) are proportional to the number of SNPs on the branch. Numbers in red indicate the coalescence time (in years, considering the variation in SNP counting, but ignoring uncertainty in mutation rate) and 95% confidence intervals of the node. For more details, see Fig. S1.