The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns

Abstract

In order to better characterize and understand the mtDNA population genetics of Central Asia, the mtDNA control regions of over 1,500 individuals from Uzbekistan have been sequenced. Although all samples were obtained from individuals residing in Uzbekistan, individuals with direct ancestry from neighboring Central Asian countries are included. Individuals of Uzbek ancestry represent five distinct geographic regions of Uzbekistan: Fergana, Karakalpakstan, Khorezm, Qashkadarya, and Tashkent. Individuals with direct ancestry in nearby countries originate from Kazakhstan, Kyrgyzstan, Russia, Afghanistan, Turkmenistan, and Tajikistan. Our data reinforce the evidence of distinct clinal patterns that have been described among Central Asian populations with classical, mtDNA, and Y-chromosomal markers. Our data also reveal hallmarks of recent demographic events. Despite their current close geographic proximity, the populations with ancestry in neighboring countries show little sign of admixture and retain the primary mtDNA patterns of their source populations. The genetic distances and haplogroup distributions among the ethnic populations are more indicative of a broad east-west cline among their source populations than of their relatively small geographic distances from one another in Uzbekistan. Given the significant mtDNA heterogeneity detected, our results emphasize the need for heightened caution in the forensic interpretation of mtDNA data in regions as historically rich and genetically diverse as Central Asia.

Forensic and genetic characterization of mtDNA from Pathans of Pakistan

“…On the [4]. Population comparisons were also performed for Pathans, Indians [20], Uzbeks [21], and several Uzbek subpopulation groups with direct ancestry from Afghanistan, Kazakhstan, Kyrgyzstan, Russia, Tajikistan, and Turkmenistan [21]. AMOVA results attributed most of the observed variance (97.69%) to differences within populations and 2.31%, to differences between populations ( Table S8a).…”

“…The Pathan group was also compared with population groups in nearby countries, including India [20] and Uzbekistan [21], and with several Uzbek subpopulation groups with direct ancestry from Afghanistan, Kazakhstan, Kyrgyzstan, Russia, Tajikistan, and Turkmenistan [21]. All sequences were aligned and trimmed to a greatest common range of 16024-16383 or 16024-16450 (C insertions around 16193 were ignored).…”

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

“…In the N1b1a5 sub-clade, the only matches found at EMPOP database, including the transition at position m.16311T4C, were with five samples from Miranda do Douro 41 and one from Uzbekistan, 63 about which no further information was available. As neither the Braganc¸a Jews nor the Mirandese population share haplotypes with the Portuguese population, and given their geographic proximity in a rather remote and isolated area, as well as the fact that there was an organized Jewish community in Miranda, at least from the twelfth century on, 4 these individuals could easily also be Jewish descendants who lost memory of their origins or have not been detected as such, as in Mairal et al 41 sampling did not include ethnical criteria.…”

Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian Peninsula

“…Donors from throughout modern-day Iran were divided geographically into northern (n¼31) and southern (n¼117) groups segregated by a virtual line at the southern fringe of the Dash-e Kavir desert extending horizontally to Iran's eastern and western borders (see Supplementary Table 1 for the location of the collection of each individual included in the study). The Iranian groups (Iran North (IN) and Iran South (IS)) are analyzed phylogenetically and statistically in a tri-continental context against 44 previously published, geographically targeted reference populations from various neighboring regions: northwest Africa, the Caucasus, central Asia and southwest Asia 5,15,[19][20][21][22][23][24][25][26][27][28] (Table 1). Due to of overlaps and differences in the resolution of the markers employed, populations marked with an asterisk (*) are only included in the NETWORK analysis and the time to most recent common ancestor estimates.…”