Maternal genomic legacy of Altaic-speaking populations reveals broad Eurasian maternal lineage diversity with a northern East Asian connection
Lintao Luo, Mingxin Du, Yunhui Liu, Yutong Jiang, Yanling Liu, Yuguo Huang, Jie Zhong, Bowen Li, Shixiong Deng, Chao Liu, Renkuan Tang, Mengge Wang, Guanglin HeAbstract
Mitochondrial DNA (mtDNA), inherited maternally and without recombination, is crucial for tracing maternal lineages and studying population history. Although Altaic-speaking groups are widespread across Eurasia, their maternal genetic data remain limited. Here, we assembled a comparative dataset of 58,257 modern and 7,425 ancient individuals, including high-quality mtDNA single-nucleotide polymorphism variation data from large-scale array studies of representative Altaic individuals. This dataset enabled a detailed assessment of maternal genetic diversity and geographic structure in Altaic-speaking populations. Our results reveal diverse patterns of maternal haplogroup composition among Altaic-speaking populations, including lineages whose distributions align with enrichment in ancient mtDNA datasets from archaeological contexts associated with subsistence strategies such as hunter-gathering, pastoralism, and farming across northern East Asia, Siberia, and western Eurasia. Manchu and Mongolian populations show stronger maternal affinity with northern East Asians, whereas Kazakhs carry higher proportions of western and northern Eurasian lineages. Manchu populations show some north–south differentiation across different geographic grouping schemes. This study expands mtDNA resources for underrepresented Altaic-speaking populations and improves understanding of their maternal genetic diversity.