Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient Central Asians

2004/04/05 by Carles Lalueza‐Fox, M. Lourdes Sampietro, M. Thomas P. Gilbert +4 · 119 citations
Biochemistry, Genetics and Molecular Biology · Arts and Humanities · #Forensic and Genetic Research #Forensic Anthropology and Bioarchaeology Studies #Yersinia bacterium, plague, ectoparasites research #Ancient DNA #Haplogroup #Mitochondrial DNA #Steppe #Hypervariable region #Evolutionary biology #Biology #Central asia #Subclade #Prehistory #Human migration #mtDNA control region #Kazakh #Geography #Archaeology #Haplotype #Genetics #Phylogenetics #Ancient history #Paleontology #History #Clade #Gene #Genotype #Demography

paper · doi:10.1098/rspb.2004.2698

published in Proceedings of the Royal Society B Biological Sciences 271(1542), 941-947 (Royal Society)

openalex publication_date 2004/04/05 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

Abstract

This study helps to clarify the debate on the Western and Eastern genetic influences in Central Asia. Thirty-six skeletal remains from Kazakhstan (Central Asia), excavated from different sites dating between the fifteenth century BC to the fifth century AD, have been analysed for the hypervariable control region (HVR-I) and haplogroup diagnostic single nucleotide polymorphisms (SNPs) of the mitochondrial DNA genome. Standard authentication criteria for ancient DNA studies, including multiple extractions, cloning of PCR products and independent replication, have been followed. The distribution of east and west Eurasian lineages through time in the region is concordant with the available archaeological information: prior to the thirteenth-seventh century BC, all Kazakh samples belong to European lineages; while later an arrival of east Eurasian sequences that coexisted with the previous west Eurasian genetic substratum can be detected. The presence of an ancient genetic substratum of European origin in West Asia may be related to the discovery of ancient mummies with European features in Xinjiang and to the existence of an extinct Indo-European language, Tocharian. This study demonstrates the usefulness of the ancient DNA in unravelling complex patterns of past human migrations so as to help decipher the origin of present-day admixed populations.

Citations

• Mitochondrial genome variation and the origin of modern humans
• Ancient DNA: Do It Right or Not at All
• Lung volume, chest size, and hematological variation in low-, medium-, and high-altitude Central Asian populations
• Horse‐mounted invaders from the Russo‐Kazakh steppe or agricultural colonists from western Central Asia? A craniometric investigation of the Bronze Age settlement of Xinjiang
• A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia
• The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs
• The Eurasian Heartland: A continental perspective on Y-chromosome diversity
• Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages
• Tracing European Founder Lineages in the Near Eastern mtDNA Pool
• Reduced-Median-Network Analysis of Complete Mitochondrial DNA Coding-Region Sequences for the Major African, Asian, and European Haplogroups
• Phylogeographic Differentiation of Mitochondrial DNA in Han Chinese
• Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia
• Complete mitochondrial genome sequences of two extinct moas clarify ratite evolution
• Trading Genes along the Silk Road: mtDNA Sequences and the Origin of Central Asian Populations
• Genetic Evidence on the Origins of Indian Caste Populations

Cited by

• Mitochondrial DNA Footprints from Western Eurasia in Modern Mongolia
• Haplogroup R1a [wikipedia]