2018/06/14 by Clémence Hollard, Vincent Zvénigorosky, Alexey Kovalev +6 · 1 citation
Biochemistry, Genetics and Molecular Biology · Arts and Humanities · #Forensic and Genetic Research #Forensic Anthropology and Bioarchaeology Studies #Genetic diversity and population structure #Haplogroup #Biology #Lineage (genetic) #Evolutionary biology #Bronze Age #Mitochondrial DNA #Human mitochondrial DNA haplogroup #Haplotype #Genetics #Geography #Gene #Allele #Archaeology
paper · doi:10.1002/ajpa.23607
openalex publication_date 2018/06/14 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/23
OBJECTIVES: This work focuses on the populations of South Siberia during the Eneolithic and Bronze Age and specifically on the contribution of uniparental lineage and phenotypical data to the question of the genetic affinities and discontinuities between western and eastern populations. MATERIALS AND METHODS: We performed molecular analyses on the remains of 28 ancient humans (10 Afanasievo (3600-2500 BC) and 18 Okunevo (2500-1800 BC) individuals). For each sample, two uniparentally inherited systems (mitochondrial DNA and Y-chromosome DNA) were studied, in order to trace back maternal and paternal lineages. Phenotype-informative SNPs (Single Nucleotide Polymorphisms) were also analyzed, along with autosomal STRs (Short Tandem Repeats). RESULTS: Most of the Afanasievo men submitted to analysis belonged to a single sub-haplogroup, R1b1a1a, which reveals the predominance of this haplogroup in these early Bronze Age populations. Conversely, Okunevo individuals carried more diverse paternal lineages that mostly belonged to Asian/Siberian haplogroups. These differences are also apparent, although less strongly, in mitochondrial lineage composition and phenotype marker variant frequencies. DISCUSSION: This study provides new elements that contribute to our understanding of the genetic interactions between populations in Eneolithic and Bronze Age southern Siberia. Our results support the hypothesis of a genetic link between Afanasievo and Yamnaya (in western Eurasia), as suggested by previous studies of other markers. However, we found no Y-chromosome lineage evidence of a possible Afanasievo migration to the Tarim Basin. Moreover, the presence of Y-haplogroup Q in Okunevo individuals links them to Native American populations, as was suggested by whole-genome sequencing.