Mitogenomic diversity in Russians and Poles

Area of Science:

• Population Genetics
• Human Paleontology
• Mitochondrial Genomics

Background:

• Mitochondrial DNA (mtDNA) genome sequencing offers high resolution for population and individual variation studies.
• There is a notable scarcity of comprehensive mitogenomic population data, particularly for Eastern European populations.

Purpose of the Study:

• To address the deficiency in mitogenomic data by sequencing complete mtDNA genomes.
• To analyze genetic diversity and population structure within Russian and Polish populations.
• To investigate historical population dynamics and expansion events in Russia.

Main Methods:

• Sanger sequencing was employed to generate complete mtDNA genome sequences.
• 376 Russian individuals from six populations and 100 Polish individuals were analyzed.
• Bayesian skyline analysis was used to infer population demographic history.

Main Results:

• Nearly complete resolution of mtDNA haplotypes was achieved, with approximately 97% being unique in both Russians and Poles.
• No overlapping haplotypes were observed between Russians and Poles when considering indels.
• Low but significant between-population differentiation was found in European populations (Fst=0.66%), but not within Russian populations (Fst=0.22%).
• Russian mitogenomes indicated post-Last Glacial Maximum expansion and rapid population growth from approximately 4.3kya (Bronze Age).

Conclusions:

• Complete mtDNA genome sequencing provides high resolution for population studies.
• Russian and Polish populations exhibit distinct mitogenomic profiles.
• The observed Russian population expansion during the Bronze Age aligns with the archaeological Kurgan model.