Large study traces prehistoric human expansion into South America, where genomic studies have been lacking
Summary author: Walter Beckwith
A large-scale genomic study of over 1,500 individuals from 139 underrepresented Indigenous groups across northern Eurasia and the Americas sheds new light on the ancient migrations that shaped the genetic landscape of North and South America. The results reveal distinct ancestry patterns and early diversification of Indigenous South American populations. The late Pleistocene saw the migration of humans from North Asia into North and South America beginning by at least 23,000 years ago, according to archaeological evidence. This expansion was rapid – genetic evidence suggests northern and southern Native American groups began diverging between 17,500 and 14,600 years ago, with human presence in southernmost South America confirmed by 14,500 years ago. However, many questions remain about this expansion and its impact on the genetic architecture of human populations across the continents, especially in South America, where high-resolution genomic studies are still lacking.
To address this knowledge gap, Elena Gusareva and colleagues developed a comprehensive, high-resolution genomic dataset comprising over 1,500 individuals from 139 ethnic groups – many previously unstudied. This dataset, containing more than 50 million high-quality genetic variants, was analyzed alongside ancient and modern DNA from Native American populations. This helped the authors investigate deep patterns of population history, migration, and adaptation. Gusareva et al. found that Siberian populations trace their ancestry to six ancient lineages, with West Siberian heritage broadly shared across the region. A notable population decline around 10,000 years ago may have been driven by climate change and the loss of megafauna. Moreover, genetic and archaeological evidence suggests that Native Americans diverged from North Eurasians between 26,800 and 19,300 years ago, with west Beringian groups like the Inuit, Koryaks, and Luoravetlans being their closest living relatives. In South America, four distinct Indigenous lineages – Amazonians, Andeans, Chaco Amerindians, and Patagonians – rapidly emerged from a common Mesoamerican origin between 13,900 and 10,000 years ago. The four lineages largely reflect distinct geographical and environmental regions, such as the Andes Mountains, the arid lowlands of the Dry Chaco, the humid tropical rainforests of the Amazon Basin, and the frigid polar climate of Patagonia. According to the authors, rapid geographic isolation of these groups likely reduced genetic diversity, particularly in immune-related HLA genes, which may influence susceptibility to infectious diseases.
Summary author: Walter Beckwith
A large-scale genomic study of over 1,500 individuals from 139 underrepresented Indigenous groups across northern Eurasia and the Americas sheds new light on the ancient migrations that shaped the genetic landscape of North and South America. The results reveal distinct ancestry patterns and early diversification of Indigenous South American populations. The late Pleistocene saw the migration of humans from North Asia into North and South America beginning by at least 23,000 years ago, according to archaeological evidence. This expansion was rapid – genetic evidence suggests northern and southern Native American groups began diverging between 17,500 and 14,600 years ago, with human presence in southernmost South America confirmed by 14,500 years ago. However, many questions remain about this expansion and its impact on the genetic architecture of human populations across the continents, especially in South America, where high-resolution genomic studies are still lacking.
To address this knowledge gap, Elena Gusareva and colleagues developed a comprehensive, high-resolution genomic dataset comprising over 1,500 individuals from 139 ethnic groups – many previously unstudied. This dataset, containing more than 50 million high-quality genetic variants, was analyzed alongside ancient and modern DNA from Native American populations. This helped the authors investigate deep patterns of population history, migration, and adaptation. Gusareva et al. found that Siberian populations trace their ancestry to six ancient lineages, with West Siberian heritage broadly shared across the region. A notable population decline around 10,000 years ago may have been driven by climate change and the loss of megafauna. Moreover, genetic and archaeological evidence suggests that Native Americans diverged from North Eurasians between 26,800 and 19,300 years ago, with west Beringian groups like the Inuit, Koryaks, and Luoravetlans being their closest living relatives. In South America, four distinct Indigenous lineages – Amazonians, Andeans, Chaco Amerindians, and Patagonians – rapidly emerged from a common Mesoamerican origin between 13,900 and 10,000 years ago. The four lineages largely reflect distinct geographical and environmental regions, such as the Andes Mountains, the arid lowlands of the Dry Chaco, the humid tropical rainforests of the Amazon Basin, and the frigid polar climate of Patagonia. According to the authors, rapid geographic isolation of these groups likely reduced genetic diversity, particularly in immune-related HLA genes, which may influence susceptibility to infectious diseases.
Journal
Science
Science
DOI
Article Title
From North Asia to South America: Tracing the longest human migration through genomic sequencing
From North Asia to South America: Tracing the longest human migration through genomic sequencing
Article Publication Date
15-May-2025
15-May-2025
Asians made humanity’s longest prehistoric migration and shaped the genetic landscape in the Americas, finds NTU Singapore-led study
• GenomeAsia100K study showed that early Asians travelled over 20,000km from North Asia to South America
Nanyang Technological University
image:
Photo 1 (From left) - NTU and SCELSE researchers, comprising Research Fellow Dr Amit Gourav Ghosh, Senior Research Fellow Dr Elena S. Gusareva, Assoc Prof Kim Hie Lim, and Prof Stephan Schuster, with the advanced DNA sequencing machines in SCELSE.
view moreCredit: NTU Singapore
An international genomics study led by scientists from Nanyang Technological University, Singapore (NTU Singapore) at the Singapore Centre for Environmental Life Sciences Engineering (SCELSE) and Asian School of the Environment (ASE) has shown that early Asians made humanity’s longest prehistoric migration.
These prehistoric humans, roaming the earth over a hundred thousand years ago, would have traversed more than 20,000 kilometres on foot from North Asia to the southernmost tip of South America.
This journey would have taken multiple generations of humans, taking thousands of years. In the past, land masses were also different, with ice bridging certain portions that made the route possible.
Supported by the GenomeAsia100K consortium [1], the study was published this week in Science, which analyses DNA sequence data from 1,537 individuals representing 139 diverse ethnic groups.
The study involved 48 authors from 22 institutions across Asia, Europe and the Americas.
The researchers traced an ancient migratory journey that began in Africa, proceeded through North Asia and ended at Tierra del Fuego in modern-day Argentina, which is considered the final boundary of human migration on Earth.
By comparing patterns of shared ancestry and genetic variations that accumulate over time, the team was able to trace how groups split, moved, and adapted to new environments.
These patterns allowed the team to reconstruct ancient migration routes and estimate when different populations diverged.
The reconstructed routes gave a detailed picture of how early humans reached the far edge of the Americas, and the findings suggested that this pioneering group overcame extreme environmental challenges to complete their journey across millennia.
A key insight was that these early migrants arrived at the northwestern tip of South America, where modern-day Panama meets Colombia, approximately 14,000 years ago.
From this critical point of entry, the population diverged into four major groups: one remained in the Amazon basin, while the others moved eastward to the Dry Chaco region and southward to Patagonia’s ice fields, navigating the valleys of the Andes Mountains, the highest mountain range outside of Asia.
By analysing the genetic profiles of indigenous populations in Eurasia and South America, researchers from the GenomeAsia100K project have, for the first time, mapped the unexpectedly large genetic diversity of Asia.
Understanding migration and genetic resilience
The study also sheds light on the evolutionary consequences of such a vast migration.
Associate Professor Kim Hie Lim from NTU’s Asian School of the Environment, the study’s corresponding author, explained that the arduous journey over thousands of years had reduced the genetic diversity of the migrant population.
“Those migrants carried only a subset of the gene pool in their ancestral populations through their long journey. Thus, the reduced genetic diversity also caused a reduced diversity in immune-related genes, which can limit a population’s flexibility to fight various infectious diseases,” explained Assoc Prof Kim, a Principal Investigator at SCELSE and Vice-Director of GenomeAsia100K.
“This could explain why some Indigenous communities were more susceptible to illnesses or diseases introduced by later immigrants, such as European colonists. Understanding how past dynamics have shaped the genetic structure of today’s current population can yield deeper insights into human genetic resilience.”
SCELSE Senior Research Fellow Dr Elena Gusareva, the study’s first author, said that these early groups settled into new ecological niches, and over hundreds of generations, their bodies and lifestyles evolved in response to the unique challenges of each region.
“Our findings highlight the extraordinary adaptability of early, diverse indigenous groups who successfully settled in vastly different environments. Using high-resolution whole-genome sequencing technology at SCELSE, we can now uncover the deep history of human migration and the genetic footprints left behind by the early settlers.”
Importance of Asian representation in genetic studies
NTU Professor Stephan Schuster, the study’s senior author of the paper and the Scientific Director of the GenomeAsia100K consortium, said: “Our study shows that a greater diversity of human genomes is found in Asian populations, not European ones, as has long been assumed due to sampling bias in large-scale genome sequencing projects.”
“This reshapes our understanding of historical population movements and lays a stronger foundation for future research into human evolution. Our new insights underscore the importance of increasing the representation of Asian populations in genetic studies, especially as genomics plays a critical role in personalised medicine, public health, and the understanding of human evolution,” added Prof Schuster, who is the President’s Chair in Genomics at NTU’s School of Biological Sciences, and the Deputy Centre Director at SCELSE.
By tracing the impact of migration and isolation on genetic characteristics, the study offers insights into how different populations respond to diseases and how their immune systems have evolved.
The findings also help scientists better understand the genetic makeup of Native American populations and help policymakers to better protect and conserve native communities.
It also demonstrates how advanced genomic tools and global collaboration can deepen humanity’s understanding of human evolution and inform future medical and scientific breakthroughs.
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[1] GenomeAsia100K is a non-profit consortium focused on sequencing and analysing 100,000 Asian genomes to drive population-specific medical advancements and precision medicine. See website for more information.
Video of the population geonomic study by GenomeAsia100K [VIDEO] |
Video of the research study by GenomeAsia100K, which analysed over 1,500 genomes from 138 Asian ethnic groups across 22 institutions. It found that early Asians made the longest-known prehistoric human migration, from North Asia to South America.
Credit
NTU Singapore
Journal
Science
Method of Research
Data/statistical analysis
Subject of Research
People
Article Title
From North Asia to South America: Tracing the longest human migration through genomic sequencing
Article Publication Date
15-May-2025
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