Genomic insights into the origin and diversification of late maritime hunter-gatherers from the Chilean Patagonia

• Published in: Proceedings of the National Academy of Sciences
• Main Authors: de la Fuente C., Ávila-Arcos M.C., Galimany J., Carpenter M.L., Homburger J.R., Blanco A., Contreras P., Dávalos D.C., Reyes O., Roman M.S., Moreno-Estrada A., Campos P.F., Eng C., Huntsman S., Burchard E.G., Malaspinas A.-S., Bustamante C.D., Willerslev E., Llop E., Verdugo R.A., Moraga M.
• Other Authors: CIIMAR - Centro Interdisciplinar de Investigação Marinha e Ambiental
• Format: Article in Journal/Newspaper
• Language: English
• Published: National Academy of Sciences 2018
• Subjects: American Indian; Article; Chile; controlled study; ethnic group; ethnicity; female; genome; genomics; geographic origin; history; human; male; maritime hunter gatherer; Patagonia; population; priority journal; South America; terrestrial hunter gatherer; genetic variation; genetics; human genome; Ancient; Humans; Indians; South American; Indian; Siberia; Tierra del Fuego
• Online Access: https://hdl.handle.net/10216/120315; https://doi.org/10.1073/pnas.1715688115

Patagonia was the last region of the Americas reached by humans who entered the continent from Siberia ∼15,000–20,000 y ago. Despite recent genomic approaches to reconstruct the continental evolutionary history, regional characterization of ancient and modern genomes remains understudied. Exploring the genomic diversity within Patagonia is not just a valuable strategy to gain a better understanding of the history and diversification of human populations in the southernmost tip of the Americas, but it would also improve the representation of Native American diversity in global databases of human variation. Here, we present genome data from four modern populations from Central Southern Chile and Patagonia (n = 61) and four ancient maritime individuals from Patagonia (∼1,000 y old). Both the modern and ancient individuals studied in this work have a greater genetic affinity with other modern Native Americans than to any non-American population, showing within South America a clear structure between major geographical regions. Native Patagonian Kawéskar and Yámana showed the highest genetic affinity with the ancient individuals, indicating genetic continuity in the region during the past 1,000 y before present, together with an important agreement between the ethnic affiliation and historical distribution of both groups. Lastly, the ancient maritime individuals were genetically equidistant to a ∼200-y-old terrestrial hunter-gatherer from Tierra del Fuego, which supports a model with an initial separation of a common ancestral group to both maritime populations from a terrestrial population, with a later diversification of the maritime groups. © 2018 National Academy of Sciences. All Rights Reserved. aHuman Genetics Program, Institute of Biomedical Sciences, Faculty of Medicine, University of Chile, Santiago 8380453, Chile; bCentre for GeoGenetics, University of Copenhagen, 1350 Copenhagen, Denmark; cInternational Laboratory for Human Genome Research, National Autonomous University of Mexico, Juriquilla 76230, ...