ASHG 2015: Reconstructing genetic history of Siberian and Northeastern European populations

Reconstructing genetic history of Siberian and Northeastern European populations.

E. Wong1 ; A. Khrunin2 ; L. Nichols2 ; D. Pushkarev3 ; D. Khokhrin2 ; D. Verbenko2 ; O. Evgradov4 ; J. Knowles4 ; J. Novembre5; S. Limborska2 ; A. Valouev1

Siberia and Western Russia are home to some of the least studied ethnic groups in the world, and their genetic history holds keys to understanding peopling of the world. We present whole-genome sequencing data from 28 individuals belonging to 14 distinct indigenous populations from that region. We used these datasets together with an additional 32 modern-day and 15 ancient human genomes to build and compare autosomal, Y-DNA and mtDNA trees and delineate genetic history. Our analyses uncover complex migratory processes that shaped the genetic landscapes in Asia and Europe. Admixture events between ancient Siberian groups resulted in distinct ancestries of nowadays Western and Eastern Siberians. Western Siberians share genetic affinity with modern Europeans. Both can trace their ancestry to the lineage of a 24,000-year-old Siberian Mal’ta boy. For Eastern Siberians, they have much weaker genetic affinity with Europeans and their ancestor separated from East Asians much later (approximately 10,000 years ago). Major migration wave from Eastern Siberians into Western Siberian groups occurred approximately 7,000 years ago, and it extended into Northeastern Europe. This is based on the admixtures we observed between Siberians and lineages represented by the 5,000-year-old hunter-gatherer Ire8 from Pitted Ware Culture excavated in Sweden, the 2,900-year-old Iron age Hungarian IR1 from the Mezocsat Culture, and modern-day northeastern Europeans. Our whole-genome data based on a broad sample of populations in Siberia and Western Russia provides new insights at a high-resolution into the genetic history of Eurasians.