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. 2016 Jul 7;99(1):163-73.
doi: 10.1016/j.ajhg.2016.05.025.

Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography That Cuts Across Language Families

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Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography That Cuts Across Language Families

Anne-Mai Ilumäe et al. Am J Hum Genet. .
Free PMC article

Abstract

The paternal haplogroup (hg) N is distributed from southeast Asia to eastern Europe. The demographic processes that have shaped the vast extent of this major Y chromosome lineage across numerous linguistically and autosomally divergent populations have previously been unresolved. On the basis of 94 high-coverage re-sequenced Y chromosomes, we establish and date a detailed hg N phylogeny. We evaluate geographic structure by using 16 distinguishing binary markers in 1,631 hg N Y chromosomes from a collection of 6,521 samples from 56 populations. The more southerly distributed sub-clade N4 emerged before N2a1 and N3, found mostly in the north, but the latter two display more elaborate branching patterns, indicative of regional contrasts in recent expansions. In particular, a number of prominent and well-defined clades with common N3a3'6 ancestry occur in regionally dissimilar northern Eurasian populations, indicating almost simultaneous regional diversification and expansion within the last 5,000 years. This patrilineal genetic affinity is decoupled from the associated higher degree of language diversity.

Figures

Figure 1
Figure 1
The Schematic Phylogenetic Tree of hg N and Geographic Distribution of hg N Sub-clades (A) Schematic phylogenetic tree of hg N. The inset shows the schematic position of hg N, the ancient-DNA sample from Ust’-Ishim, and its shared hg NO mutations on the Y chromosome phylogenetic tree. The yellow box indicates the branching point of hg N. The phylogenetic tree of 94 high-coverage Y chromosomes from hg N was reconstructed with BEAST software. Unsupported dichotomies resulting from the strict bifurcation requirement of the software were manually reduced to polytomies. The size and fill proportions of each collapsed clade indicate the number of samples from the geographic regions constituting the clade. Clades are colored according to the color code presented in (B), except that turquoise represents clades with no frequency information at the population level. Markers represented in red were used for genotyping. Bold magenta lines indicate new lineages or expanded sub-clades in comparison with the phylogenetic tree from Karmin et al. The temporal scale was obtained with a relaxed lognormal clock. The annotated tree with the number of mutations on each branch and the list of corresponding Y chromosome positions are available in Figure S2 and Table S6, respectively. (B) The regional distribution of hg N sub-clades in northern Eurasia. The chart depicts the proportions of hg N sub-clades in studied regions (the percentage of hg N sub-clades in the total number of samples pooled according to their geographic origin). Column heights correspond to the frequency intervals given in the figure. The entire list of populations from each studied region can be found in Table S2.
Figure 2
Figure 2
Geographic-Distribution Maps of hg N3 and N2a1 General Frequency Data points from Table S2 and additional data points of zero frequency from the literature were used for creating the plots. All data points are presented on the “N3 all” and “N2a1 all” maps. Data points from this study are indicated by green dots, and data points from the literature are indicated by smaller black dots.
Figure 3
Figure 3
Frequency-Distribution Maps of Individual Sub-clades of hg N3 Data points from Table S2 and additional data points of zero frequency from the literature were used for creating the plots of hg N3 sub-clades. All data points are the same as in Figure 2.

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