PLoS ONE (Jan 2022)

Kazak mitochondrial genomes provide insights into the human population history of Central Eurasia.

  • Ayken Askapuli,
  • Miguel Vilar,
  • Humberto Garcia-Ortiz,
  • Maxat Zhabagin,
  • Zhaxylyk Sabitov,
  • Ainur Akilzhanova,
  • Erlan Ramanculov,
  • Uli Schamiloglu,
  • Angelica Martinez-Hernandez,
  • Cecilia Contreras-Cubas,
  • Francisco Barajas-Olmos,
  • Theodore G Schurr,
  • Zhaxybay Zhumadilov,
  • Marlen Flores-Huacuja,
  • Lorena Orozco,
  • John Hawks,
  • Naruya Saitou

DOI
https://doi.org/10.1371/journal.pone.0277771
Journal volume & issue
Vol. 17, no. 11
p. e0277771

Abstract

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As a historical nomadic group in Central Asia, Kazaks have mainly inhabited the steppe zone from the Altay Mountains in the East to the Caspian Sea in the West. Fine scale characterization of the genetic profile and population structure of Kazaks would be invaluable for understanding their population history and modeling prehistoric human expansions across the Eurasian steppes. With this mind, we characterized the maternal lineages of 200 Kazaks from Jetisuu at mitochondrial genome level. Our results reveal that Jetisuu Kazaks have unique mtDNA haplotypes including those belonging to the basal branches of both West Eurasian (R0, H, HV) and East Eurasian (A, B, C, D) lineages. The great diversity observed in their maternal lineages may reflect pivotal geographic location of Kazaks in Eurasia and implies a complex history for this population. Comparative analyses of mitochondrial genomes of human populations in Central Eurasia reveal a common maternal genetic ancestry for Turko-Mongolian speakers and their expansion being responsible for the presence of East Eurasian maternal lineages in Central Eurasia. Our analyses further indicate maternal genetic affinity between the Sherpas from the Tibetan Plateau with the Turko-Mongolian speakers.