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Haplogroup N-M231 of human Y chromosome is a common clade from Eastern Asiato Northern Europe, being one of the most frequent haplogroups in Altaic andUralic-speaking populations. Using newly discovered bi-allelic markers fromhigh-throughput DNA sequencing, we largely improved the phylogeny of HaplogroupN, in which 16 subclades could be identified by 33 SNPs. More than 400 malesbelonging to Haplogroup N in 34 populations in China were successfullygenotyped, and populations in Northern Asia and Eastern Europe were alsocompared together. We found that all the N samples were typed as inside eitherclade N1-F1206 (including former N1a-M128, N1b-P43 and N1c-M46 clades), most ofwhich were found in Altaic, Uralic, Russian and Chinese-speaking populations,or N2-F2930, common in Tibeto-Burman and Chinese-speaking populations. Ourdetailed results suggest that Haplogroup N developed in the region of Chinasince the final stage of late Paleolithic Era.

The dichotomy structure of Y chromosome Haplogroup N