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, 71 (3), 466-82

A Genetic Landscape Reshaped by Recent Events: Y-chromosomal Insights Into Central Asia

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A Genetic Landscape Reshaped by Recent Events: Y-chromosomal Insights Into Central Asia

Tatiana Zerjal et al. Am J Hum Genet.

Abstract

Sixteen Y-chromosomal microsatellites and 16 binary markers have been used to analyze DNA variation in 408 male subjects from 15 populations in Central Asia. Large genetic differences were found between populations, but these did not display an obvious geographical or linguistic pattern like that usually seen for Y-chromosomal variation. Nevertheless, an underlying east-west clinal pattern could be detected by the Autocorrelation Index for DNA Analysis and admixture analysis, and this pattern was interpreted as being derived from the ancient peopling of the area, reinforced by subsequent migrations. Two particularly striking features were seen: an extremely high level of Y-chromosomal differentiation between geographically close populations, accompanied by low diversity within some populations. These were due to the presence of high-frequency population-specific lineages and suggested the occurrence of several recent bottlenecks or founder events. Such events could account for the lack of a clear overall pattern and emphasize the importance of multiple recent events in reshaping this genetic landscape.

Figures

Figure  1
Figure 1
Rooted maximum-parsimony tree of haplogroups defined by binary markers. Marker names are indicated above the lines, and lineage names recommended by the YCC are shown below the lines. Branch lengths are arbitrary. Haplogroups are represented by circles, with an area proportional to frequency. Haplogroup names according to the YCC and former nomenclatures are compared in the right-hand columns. J/T-S = Jobling/Tyler-Smith; S = Semino; H = Hammer.
Figure  2
Figure 2
Haplogroup frequencies in the population samples. Circle area is proportional to sample size, and haplogroup color codes are as in figure 1.
Figure  3
Figure 3
Median-joining networks of microsatellite haplotypes in (a) Uzbeks and (b) Kazaks. Circles represent haplotypes, with area proportional to frequency and color code as in figure 1. Binary marker mutations are represented by red lines, and microsatellite mutations by black lines. Note that DYS19 has not been used in the networks because it is duplicated in some haplogroup 36 individuals; the two Uzbeks with the same 15-locus haplotype are distinguished if DYS19 is used.
Figure  4
Figure 4
Cumulative pairwise differences between microsatellite haplotypes in populations with sample size ⩾15
Figure  5
Figure 5
MDS analysis of population pairwise values of ΦST, based on microsatellite haplotypes. Symbol shapes indicate language affiliation; blackened symbols represent high-diversity populations, and unblackened symbols represent low-diversity populations.
Figure  6
Figure 6
AIDA analysis showing the correlation of genetic distance (Moran's II) with geographical distance.
Figure  7
Figure 7
Interpolated maps of admixture proportions. The direction from the source population is shown by the arrow. The estimated proportion of admixture was divided into the five categories summarized by the gray scale in the lowest section.

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