Present-day Admixed Genomes Reveal Prehistoric Adaptation to Cold, Maritime Diet, and Local Pathogens in Patagonia.
12 affiliations
- 1Programa de Genética Humana, Instituto de Ciencias Biomédicas, Universidad de Chile, Santiago 8380000, Chile.
- 2Institute of Evolutionary Biology (IBE/CSIC), University of Pompeu Fabra, Barcelona 08003, España.
- 3National Laboratory of Genomics for Biodiversity (LANGEBIO)-UGA, CINVESTAV, Irapuato, Guanajuato 36821, Mexico.
- 4Departamento de Antropología, Facultad de Ciencias Sociales, Universidad de Chile, Santiago 7750000, Chile.
- 5Instituto de Diversidad y Evolución Austral, CONICET, Puerto Madryn 9120, Argentina.
- 6Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
- 7Center for Computational, Evolutionary and Human Genomics, Stanford University, Stanford, CA 94305, USA.
- 8Division of Biomedical Informatics and Personalized Medicine, University of Colorado, Denver, CO, USA.
- 9Program in Pharmaceutical Sciences and Pharmacogenomics, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.
- 10Genetics and Evolutionary Biology, University of Sao Paulo, Sao Paulo 05508-090, Brazil.
- 11Núcleo Interdisciplinario de Biología y Genética, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.
- 12Departamento de Oncología Básico-Clínica, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile.
Abstract
Patagonia represents the final frontier of the human out-of-Africa expansion, where humans have lived for at least 13,500 years, yet the genetic adaptations of its indigenous populations remain understudied. We analyzed genome-wide data from 71 present-day individuals across 7 Patagonian locations. Our analyses reveal widespread European admixture initiating approximately 10 to 12 generations ago, followed by region-specific demographic trajectories. We identified a profound north-south genetic differentiation. Populations from the Chiloé Archipelago and Argentinean Patagonia share ancestry with the Mapuche, whereas individuals from Tierra del Fuego exhibit a unique, deeply rooted genetic component shared with ancient Fueguian groups. To identify prehistoric local adaptations, we performed selection scans on masked Native American genomic segments. We detected robust selection signals predating European contact in genes associated with height and skeletal development (SUPT3H, CADM1, RUNX2), lipid metabolism (MSMO1, LYPLA1, SORT1/PSCR1/CELSR2), and energy homeostasis (ZNF202). Furthermore, we observed a significant enrichment of Native American ancestry within the Major Histocompatibility Complex on chromosome 6. In conclusion, our findings indicate that the current admixed populations in Patagonia exhibit signals of local adaptation that likely originated in their ancient indigenous ancestors. These groups accumulated critical morphological, metabolic, and immunological adaptations to their extreme environment and local pathogens, traits that remained highly beneficial even after European admixture.
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BibTeX
@article{pezovalderrama2026presentday,
title = {{Present-day Admixed Genomes Reveal Prehistoric Adaptation to Cold, Maritime Diet, and Local Pathogens in Patagonia.}},
author = {Patricio Pezo-Valderrama and Michael Orellana-Soto and Alexandra Salcedo and Juan Esteban Rodríguez-Rodríguez and Cristian Yañez and Elena Llop and Eugenio Aspillaga and Maria Laura Parolin and Andrés Moreno-Estrada and Carlos D Bustamante and Julian R Homburger and Christopher R Gignoux and Alexander Ioannidis and Celeste Eng and Scott Huntsman and Esteban G Burchard and Tábita Hünemeier and Mauricio Moraga and Ricardo A Verdugo},
journal = {Genome biology and evolution},
year = {2026},
month = oct,
doi = {10.1093/gbe/evag231},
url = {https://europepmc.org/article/MED/42911668},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Present-day Admixed Genomes Reveal Prehistoric Adaptation to Cold, Maritime Diet, and Local Pathogens in Patagonia.
AU - Patricio Pezo-Valderrama
AU - Michael Orellana-Soto
AU - Alexandra Salcedo
AU - Juan Esteban Rodríguez-Rodríguez
AU - Cristian Yañez
AU - Elena Llop
AU - Eugenio Aspillaga
AU - Maria Laura Parolin
AU - Andrés Moreno-Estrada
AU - Carlos D Bustamante
AU - Julian R Homburger
AU - Christopher R Gignoux
AU - Alexander Ioannidis
AU - Celeste Eng
AU - Scott Huntsman
AU - Esteban G Burchard
AU - Tábita Hünemeier
AU - Mauricio Moraga
AU - Ricardo A Verdugo
PY - 2026
DA - 2026/10/01
JO - Genome biology and evolution
DO - 10.1093/gbe/evag231
UR - https://europepmc.org/article/MED/42911668
AB - Patagonia represents the final frontier of the human out-of-Africa expansion, where humans have lived for at least 13,500 years, yet the genetic adaptations of its indigenous populations remain understudied. We analyzed genome-wide data from 71 present-day individuals across 7 Patagonian locations. Our analyses reveal widespread European admixture initiating approximately 10 to 12 generations ago, followed by region-specific demographic trajectories. We identified a profound north-south genetic differentiation. Populations from the Chiloé Archipelago and Argentinean Patagonia share ancestry with the Mapuche, whereas individuals from Tierra del Fuego exhibit a unique, deeply rooted genetic component shared with ancient Fueguian groups. To identify prehistoric local adaptations, we performed selection scans on masked Native American genomic segments. We detected robust selection signals predating European contact in genes associated with height and skeletal development (SUPT3H, CADM1, RUNX2), lipid metabolism (MSMO1, LYPLA1, SORT1/PSCR1/CELSR2), and energy homeostasis (ZNF202). Furthermore, we observed a significant enrichment of Native American ancestry within the Major Histocompatibility Complex on chromosome 6. In conclusion, our findings indicate that the current admixed populations in Patagonia exhibit signals of local adaptation that likely originated in their ancient indigenous ancestors. These groups accumulated critical morphological, metabolic, and immunological adaptations to their extreme environment and local pathogens, traits that remained highly beneficial even after European admixture.
SN - 1759-6653
ER -