Sex-Specific Migration Patterns in Central Asian Populations, Revealed by Analysis of Y-Chromosome Short Tandem Repeats and mtDNA

Abstract

Eight Y-linked short-tandem-repeat polymorphisms (DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393) were analyzed in four populations of Central Asia, comprising two lowland samples-Uighurs and lowland Kirghiz-and two highland samples-namely, the Kazakhs (altitude 2,500 m above sea level) and highland Kirghiz (altitude 3,200 m above sea level). The results were compared with mtDNA sequence data on the same individuals, to study possible differences in male versus female genetic-variation patterns in these Central Asian populations. Analysis of molecular variance (AMOVA) showed a very high degree of genetic differentiation among the populations tested, in discordance with the results obtained with mtDNA sequences, which showed high homogeneity. Moreover, a dramatic reduction of the haplotype genetic diversity was observed in the villages at high altitude, especially in the highland Kirghiz, when compared with the villages at low altitude, which suggests a male founder effect in the settlement of high-altitude lands. Nonetheless, mtDNA genetic diversity in these highland populations is equivalent to that in the lowland populations. The present results suggest a very different migration pattern in males versus females, in an extended historical frame, with a higher migration rate for females.

Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages

“…9 Contrary to the structure shown in Y-chromosome lineages in Central Asia, where 24% of the genetic variation could be attributed to differences between populations, 10 mtDNA diversity is not structured, as shown by the AMOVA analysis. This discrepancy between the two uniparental genomic regions in Central Asia is in agreement with previous data in the region, 7 and as a global trend in which higher female than male migration has been observed. 54 It is interesting to stress the lack of geographic structure of the basal branches of the non-African mtDNA (haplogroups M and N, called 'limbs' 17 ), and a clear phylogeography in more external branches (haplogroups or subhaplogroups; 'twigs' 17 ) supports the existence of an ancestral population where the two main groups of lineages diverged.…”

Spatial patterns of cystic fibrosis mutation spectra in European populations

“…We have observed such a significant correlation with mtDNA, although that was not the case with the Y chromosome. Females seem to be more mobile than males, 46,47 up to the point that mtDNA variation is much more homogeneous among European populations than Y-chromosome haplogroup frequencies. 34,37 Although they show clear spatial patterns, the frequency of the main CF mutations is relatively homogeneous across European populations; an analysis of the molecular variance 48 shows that differences among populations explain 3.34% of the variance in CF mutation frequencies; that fraction is 1.13% for mtDNA and 17.07% for Y-chromosome haplogroups in the panel of European populations used for comparison.…”

Haplogroup-specific deviation from the stepwise mutation model at the microsatellite loci DYS388 and DYS392

“…[8][9][10][11][12][13] However, the behaviour of DYS388 appears to be inconsistent with the SMM, as was shown in two populations of Middle Eastern origin. 14,15 Additionally, another widely used microsatellite, DYS392, has recently been demonstrated to deviate from the SMM.…”