{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Programa de Genética Humana, Instituto de Ciencias Biomédicas, Universidad de Chile, Santiago 8380000, Chile.",
    "Institute of Evolutionary Biology (IBE/CSIC), University of Pompeu Fabra, Barcelona 08003, España.",
    "National Laboratory of Genomics for Biodiversity (LANGEBIO)-UGA, CINVESTAV, Irapuato, Guanajuato 36821, Mexico.",
    "Departamento de Antropología, Facultad de Ciencias Sociales, Universidad de Chile, Santiago 7750000, Chile.",
    "Instituto de Diversidad y Evolución Austral, CONICET, Puerto Madryn 9120, Argentina.",
    "Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.",
    "Center for Computational, Evolutionary and Human Genomics, Stanford University, Stanford, CA 94305, USA.",
    "Division of Biomedical Informatics and Personalized Medicine, University of Colorado, Denver, CO, USA.",
    "Program in Pharmaceutical Sciences and Pharmacogenomics, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.",
    "Genetics and Evolutionary Biology, University of Sao Paulo, Sao Paulo 05508-090, Brazil.",
    "Núcleo Interdisciplinario de Biología y Genética, Instituto de Ciencias Biomédicas (ICBM), Facultad de Medicina, Universidad de Chile, Santiago, Chile.",
    "Departamento de Oncología Básico-Clínica, Facultad de Medicina, Universidad de Chile, Santiago 8380000, Chile."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 19,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Patricio Pezo-Valderrama",
      "orcid": "0000-0001-5027-7145"
    },
    {
      "affs": [
        0
      ],
      "name": "Michael Orellana-Soto",
      "orcid": "0000-0003-3176-062X"
    },
    {
      "affs": [
        0
      ],
      "name": "Alexandra Salcedo",
      "orcid": "0009-0009-1888-7264"
    },
    {
      "affs": [
        2
      ],
      "name": "Juan Esteban Rodríguez-Rodríguez",
      "orcid": "0000-0003-4706-2201"
    },
    {
      "affs": [
        0
      ],
      "name": "Cristian Yañez"
    },
    {
      "affs": [
        0
      ],
      "name": "Elena Llop"
    },
    {
      "affs": [
        3
      ],
      "name": "Eugenio Aspillaga"
    },
    {
      "affs": [
        4
      ],
      "name": "Maria Laura Parolin",
      "orcid": "0000-0001-6726-2943"
    },
    {
      "affs": [
        2,
        5
      ],
      "name": "Andrés Moreno-Estrada",
      "orcid": "0000-0001-8329-8292"
    },
    {
      "affs": [
        5,
        6
      ],
      "name": "Carlos D Bustamante",
      "orcid": "0000-0002-4187-7920"
    },
    {
      "affs": [
        5
      ],
      "name": "Julian R Homburger",
      "orcid": "0000-0001-7412-3503"
    },
    {
      "affs": [
        5,
        7
      ],
      "name": "Christopher R Gignoux",
      "orcid": "0000-0001-9728-6567"
    },
    {
      "affs": [
        2,
        5,
        6
      ],
      "name": "Alexander Ioannidis",
      "orcid": "0000-0002-4735-7803"
    },
    {
      "affs": [
        8
      ],
      "name": "Celeste Eng",
      "orcid": "0000-0001-7968-1862"
    },
    {
      "affs": [
        8
      ],
      "name": "Scott Huntsman",
      "orcid": "0000-0002-5440-6191"
    },
    {
      "affs": [
        8
      ],
      "name": "Esteban G Burchard",
      "orcid": "0000-0001-7475-2035"
    },
    {
      "affs": [
        1,
        9
      ],
      "name": "Tábita Hünemeier",
      "orcid": "0000-0002-3156-2079"
    },
    {
      "affs": [
        0,
        3,
        10
      ],
      "name": "Mauricio Moraga",
      "orcid": "0000-0002-8217-9950"
    },
    {
      "affs": [
        0,
        11
      ],
      "name": "Ricardo A Verdugo",
      "orcid": "0000-0001-5668-5449"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/en9rdgh3cgqnw.bib",
  "cited_by": 0,
  "doi": "10.1093/gbe/evag231",
  "fulltext_url": "https://europepmc.org/articles/PMC13689704",
  "id": "en9rdgh3cgqnw",
  "issns": [
    "1759-6653"
  ],
  "landing_url": "https://europepmc.org/article/MED/42911668",
  "language": "eng",
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1311|Forensic and Genetic Research"
    ]
  ],
  "openalex": "W7223232307",
  "pdf_url": "https://europepmc.org/articles/PMC13689704?pdf=render",
  "pmcid": "PMC13689704",
  "pmid": "42911668",
  "published": "2026-10-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/en9rdgh3cgqnw.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:20:14Z",
      "native_id": "MED:42911668",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42911668"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Forensic and Genetic Research",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Present-day Admixed Genomes Reveal Prehistoric Adaptation to Cold, Maritime Diet, and Local Pathogens in Patagonia.",
  "title_text": "Present-day Admixed Genomes Reveal Prehistoric Adaptation to Cold, Maritime Diet, and Local Pathogens in Patagonia.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:20:14Z",
  "url": "https://research.draconitic.com/paper/en9rdgh3cgqnw",
  "venue": "Genome biology and evolution",
  "versions": []
}