Molecular Genetics and Genomics

, Volume 294, Issue 6, pp 1547–1559 | Cite as

Insights into matrilineal genetic structure, differentiation and ancestry of Armenians based on complete mitogenome data

  • Miroslava DerenkoEmail author
  • Galina Denisova
  • Boris Malyarchuk
  • Anahit Hovhannisyan
  • Zaruhi Khachatryan
  • Peter Hrechdakian
  • Andrey Litvinov
  • Levon Yepiskoposyan
Original Article


Distinctive peculiarities of Armenians such as their millennia-long genetic isolation and strong national identity attract a keen interest while studying the demographic history of the West Asia. Here, to examine their fine-scale matrilineal genetic structure, ancestry and relationships with neighboring populations, we analyzed 536 complete mitogenomes (141 of which are novel) from 8 geographically different Armenian populations, covering the whole stretch of historical Armenia. The observed patterns highlight a remarkable degree of matrilineal genetic heterogeneity and weak population structuring of Armenians. Moreover, our phylogeographic analysis reveals common ancestries for some mtDNA lineages shared by West Asians, Transcaucasians, Europeans, Central Asians and Armenians. About third of the mtDNA subhaplogroups found in Armenian gene pool might be considered as Armenian-specific, as these are virtually absent elsewhere in Europe, West Asia and Transcaucasia. Coalescence ages of most of these lineages do not exceed 3.1 kya and coincide well with the population size growth started around 1.8–2.8 kya detectable only in the Bayesian Skyline Plots based on the Armenian-specific mtDNA haplotypes.


Mitochondrial genomes Mitochondrial DNA phylogeny Haplogroups Genetic diversity Genetic differentiation Armenians 



We are grateful to all the volunteers who participated in this study and made this research possible. This study received support from the Ministry of Science and Higher Education of Russia in the framework of the state assignment theme for the IBPN FEB RAS (0290-2018-0024) (to MD, BM, GD, AL), the Armenian Science Committee (Grants 18T-1F186 and NT-18/TB) (to LY and ZKh), the Armenian National Science and Education Fund (Grant hubio-4562) (to AH).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All the procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

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Supplementary material 6 (XLSX 91 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Genetics Laboratory, Russian Academy of SciencesInstitute of Biological Problems of the NorthMagadanRussia
  2. 2.Russian-Armenian UniversityYerevanArmenia
  3. 3.Institute of Molecular BiologyNational Academy of SciencesYerevanArmenia
  4. 4.Armenian DNA Project at Family Tree DNAHoustonUSA

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