Continuity and discontinuity in Native American populations: Insights from ancient and modern mitochondrial DNA

Ancient DNA research has expanded dramatically in recent years, transforming reconstructions of how and when humans settled the American continent. In this review, we synthesize evidence for genetic temporal continuity and discontinuity in Native American population history using mitochondrial DNA (mtDNA) from ancient and contemporary individuals. We systematically surveyed studies indexed in PubMed, ResearchGate, and Google Scholar, extending earlier compilations with publications through October 2025. For each population, we compiled sample sizes, mtDNA haplogroup frequencies, geographic coordinates, and associated archaeological and chronological information. These data were used to map the spatial distribution of founding mtDNA lineages, examine regional trajectories of haplogroup frequencies, and characterize patterns of mitochondrial population structure. Geographic distance showed a statistically detectable but limited association with mtDNA differentiation. Time-ordered haplogroup frequency series revealed region-specific dynamics, including long-term persistence of maternal lineages as well as marked episodes of turnover, some coincident with major cultural transitions. Genetic data were obtained from 315 studies. The dataset for contemporary populations included 23,315 individuals from 322 populations, while ancient DNA data included 4,192 individuals associated with 211 archaeological populations. Together, these data provide a comprehensive synthesis of mtDNA-based temporal and spatial patterns relevant to the peopling of the American continent.