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Am J Phys Anthropol. 2019 Apr;168(4):717-728. doi: 10.1002/ajpa.23789. Epub 2019 Jan 29.

The genetic legacy of the Yaghnobis: A witness of an ancient Eurasian ancestry in the historically reshuffled central Asian gene pool.

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Laboratories of Physical Anthropology and Ancient DNA, Department of Cultural Heritage, University of Bologna, Ravenna, Italy.
Laboratory of Molecular Anthropology and Centre for Genome Biology, Department of Biological Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
Department of Cultural Heritage, University of Bologna, Ravenna, Italy.
Department of Asian, African and Mediterranean Studies, University of Naples "L'Orientale", Naples, Italy.
Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
Department of Diagnostic and Clinical Medicine and Public Health, University of Modena and Reggio Emilia, Modena, Italy.
Centre for Biomedical Research and Technologies, Italian Auxologic Institute, IRCCS, Milan, Italy.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.



The Yaghnobis are an ethno-linguistic minority historically settled along the Yaghnob River in the Upper-Zarafshan Valley in Tajikistan. They speak a language of Old Sogdian origin, which is the only present-day witness of the Lingua Franca used along the Silk Road in Late Antiquity. The aim of this study was to reconstruct the genetic history of this community in order to shed light on its isolation and genetic ancestry within the Euro-Asiatic context.


A total of 100 DNA samples were collected in the Yaghnob and Matcha Valleys during several expeditions and their mitochondrial, Y-chromosome and autosomal genome-wide variation were compared with that from a large set of modern and ancient Euro-Asiatic samples.


Findings from uniparental markers highlighted the long-term isolation of the Yaghnobis. Mitochondrial DNA ancestry traced an ancient link with Middle Eastern populations, whereas Y-chromosome legacy showed more tight relationships with Central Asians. Admixture, outgroup-f3, and D-statistics computed on autosomal variation corroborated Y-chromosome evidence, pointing respectively to low Anatolian Neolithic and high Steppe ancestry proportions in Yaghnobis, and to their closer affinity with Tajiks than to Iranians.


Although the Yaghnobis do not show evident signs of recent admixture, they could be considered a modern proxy for the source of gene flow for many Central Asian and Middle Eastern groups. Accordingly, they seem to retain a peculiar genomic ancestry probably ascribable to an ancient gene pool originally wide spread across a vast area and subsequently reshuffled by distinct demographic events occurred in Middle East and Central Asia.


Tajikistan; Y-chromosome; Yaghnobis; genome-wide SNPs; mitochondrial DNA


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