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Extensive Genomic Study Illuminates Prehistoric Human Migration into South America

May 15, 2025
in Biology
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A groundbreaking genomic study encompassing over 1,500 individuals from 139 underrepresented Indigenous populations across northern Eurasia and the Americas offers unprecedented insights into the ancient migrations that carved the genetic blueprint of the continents. This extensive research delves deep into the evolutionary paths and divergence of Native American groups, shedding light on the complex demographic history that spans tens of thousands of years. By integrating high-resolution genomic data with archaeological records, the study unravels the intricacies of human dispersals from North Asia to the farthest reaches of South America.

For decades, the peopling of the Americas has remained a focal question in anthropology, archaeology, and genetics. The timing, routes, and patterns of human migration into and throughout the continents have been pieced together via a combination of skeletal remains, stone tool assemblages, and mitochondrial DNA studies. Yet, fundamental gaps persisted, especially regarding the genetic diversity and population structure of South American Indigenous groups. This comprehensive genomic analysis bridges these gaps, offering molecular evidence that complements and extends archaeological narratives.

The late Pleistocene era was a dynamic period marked by climatic flux and environmental transformations. Archaeological findings suggest that human migration into the Americas from North Asia was underway by at least 23,000 years ago. This movement was remarkably swift; genetic divergence between northern and southern Native American populations started to emerge between approximately 17,500 and 14,600 years before present. Intriguingly, human presence in the southern tip of South America has been archaeologically confirmed by 14,500 years ago, illustrating rapid southward colonization. However, until now, the nuances of these migratory waves and their implications for the genetic landscape remained elusive.

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To tackle these challenges, Elena Gusareva and her collaborators developed one of the most comprehensive genomic datasets to date, assembling DNA from more than 1,500 individuals representing 139 distinct ethnic groups, many of which had not been genetically studied before. This vast catalogue comprised over 50 million high-quality genetic variants, enabling robust population genetic analyses. By co-analyzing this modern data with ancient DNA samples, the researchers reconstructed the deep demographic history, migration events, and adaptive responses of Indigenous populations.

One of the pivotal findings describes the ancestral composition of Siberian populations. The study identifies six ancient lineages that converge to form the genetic fabric of present-day Siberians, with a broad distribution of West Siberian ancestry throughout the region. Notably, a significant population decline dated around 10,000 years ago was observed, potentially associated with climatic shifts and the extinction of megafaunal species that affected subsistence resources. This bottleneck likely influenced subsequent genetic diversity and adaptive trajectories.

Crucially, the research refines the timing of divergence between Native Americans and their closest North Eurasian relatives. Genetic and archaeological evidence converge to suggest that this split occurred between 26,800 and 19,300 years ago during the late Upper Paleolithic. Among the closest extant relatives are groups inhabiting the western Beringian region, including the Inuit, Koryaks, and Luoravetlans. This identification solidifies the geographic nexus from which the Americas’ first inhabitants originated and provides compelling evidence for the prehistoric connections across the Bering Strait.

In South America, the genomic data reveal the rapid emergence of four distinct Indigenous lineages — Amazonians, Andeans, Chaco Amerindians, and Patagonians — all radiating from a shared Mesoamerican ancestral source between 13,900 and 10,000 years ago. Each of these groups corresponds closely with ecological and geographical zones: the towering Andes Mountains, the arid Dry Chaco lowlands, the biodiverse Amazon rainforest, and the frigid, windswept landscapes of Patagonia. This phylogeographic structure underscores the role of environmental heterogeneity in shaping genetic differentiation.

An especially compelling observation from the study pertains to genetic diversity in immune-related regions. The rapid geographic isolation and fragmentation of these South American lineages appear to have reduced variability within the human leukocyte antigen (HLA) genes, which are critical for immune response modulation. Such reduced diversity has profound implications for disease susceptibility and resilience to infectious agents, providing a genetic dimension that complements epidemiological patterns observed today among Indigenous peoples.

The integration of ancient DNA analysis allowed the authors to pinpoint temporal patterns of migrations and demographic changes with unprecedented resolution. The data illustrate a complex population history, involving not only initial colonization events but also subsequent demographic contractions and expansions influenced by environmental, climatic, and cultural factors. This refined chronology of migration corrects earlier simplified models and contributes to our understanding of how modern Indigenous diversity emerged.

Methodologically, the study leveraged cutting-edge genomic sequencing technologies alongside sophisticated computational frameworks capable of disentangling signals of ancient admixture and lineage splits. By harmonizing modern and ancient datasets, the researchers avoided biases inherent in studies focusing solely on contemporary populations, which can be confounded by recent admixture events. This holistic approach sets a new standard for population genomics research in the Americas.

Beyond its scientific achievements, the study has critical implications for Indigenous communities whose histories have long been underrepresented in genetic research. By involving a vast array of ethnic groups, many previously unstudied, the research promotes inclusivity and provides these populations with insights into their ancestral origins and evolutionary heritage. Furthermore, understanding patterns of genetic diversity, especially related to immunity, offers pathways toward culturally respectful health initiatives tailored to the unique genetic architectures of these populations.

This landmark contribution to human evolutionary genetics invites a reevaluation of longstanding hypotheses about the peopling of the Americas. It elucidates not just a pathway but a tapestry of movements, radiations, and isolations shaped by geography, environment, and time. As genomic technologies continue to evolve, future studies building upon this foundation will no doubt reveal even finer details, bringing us closer to a comprehensive narrative of humanity’s epic journey from Eurasia to the farthest reaches of the Western Hemisphere.

Subject of Research: Ancient human migrations and population genetics of Indigenous peoples in northern Eurasia and the Americas

Article Title: From North Asia to South America: Tracing the longest human migration through genomic sequencing

News Publication Date: 15-May-2025

Web References: http://dx.doi.org/10.1126/science.adk5081

Keywords: human migration, population genetics, Indigenous peoples, North Asia, South America, ancient DNA, genomic sequencing, late Pleistocene, Beringia, Native Americans, HLA genes, genetic diversity

Tags: ancient migrations to South Americaarchaeology and genetics integrationdemographic history of the Americasevolutionary paths of human populationsgenomic study of Indigenous populationshigh-resolution genomic datalate Pleistocene environmental changesmolecular evidence in archaeologyNative American genetic diversitypeopling of the Americaspopulation structure of South American Indigenous groupsprehistoric human migration
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