Human Population Genetics and Genomics ISSN 2770-5005

Human Population Genetics and Genomics 2024;4(1):0003 |

Review Open Access

Tales from the end of the world: three decades of paleogenetic research in Patagonia

Constanza de la Fuente Castro 1,† , Josefina Motti 2,3,† , Valeria Arencibia 4,5,† , Pierre Luisi 6,7,8,†

  • Programa de Genética Humana, Facultad de Medicina, Universidad de Chile, Av. Independencia 1027, Santiago 8380453, Chile
  • Laboratorio de Ecología Evolutiva Humana, Unidad de Enseñanza Universitaria Quequén, Facultad de Ciencias Sociales, Universidad Nacional del Centro de la Provincia de Buenos Aires, Calle 508 Nº 881 Quequen 7631, Argentina
  • Consejo Nacional de Investigaciones Científicas y Técnicas, Centro Científico Tecnológico (CONICET)-Tandil, Provincia de Buenos Aires, 7000, Argentina
  • Equipo de Antropología Biologica, CCNAA, Universidad Maimónides, Hidalgo 775, Ciudad Autónoma de Buenos Aires C1405CUD, Argentina
  • Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires C1425FQB, Argentina
  • Instituto de Antropología de Córdoba (IDACOR), CONICET, Universidad Nacional de Córdoba, Córdoba 5000, Argentina
  • Departamento de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Córdoba 5000, Argentina
  • Programa de Referencia y Biobanco Genómico de la Población Argentina (PoblAr), Buenos Aires C1425FQD, Argentina
  • † These authors contributed equally to this work.

Correspondence: Constanza de la Fuente Castro; Josefina Motti; Valeria Arencibia; Pierre Luisi

Academic Editor(s): Daniel Wegmann

Received: Nov 15, 2023 | Accepted: Feb 4, 2024 | Published: Feb 17, 2024

This article belongs to the Special Issue

Cite this article: de la Fuente Castro C, Motti J, Arencibia V, Luisi P. Tales from the end of the world: three decades of paleogenetic research in Patagonia. Hum Popul Genet Genom 2024; 4(1):0003.


Patagonia is a region that has fascinated researchers for centuries considering the evidence of early human occupation, its geographical and environmental variability, and the diversity of human adaptations. From an archaeological and bioanthropological perspective, the region has been the focus of many studies addressing a wide range of questions, from a broad scale, such as the peopling of the Americas, to a local scale concerning the diversity and interactions of human populations. For three decades, paleogenetic studies have contributed to the understanding of population dynamics in the region: first using uniparental markers, particularly mitochondrial DNA in a much larger proportion; and more recently including genome-wide data for ancient individuals. In this work, we revise these studies considering three themes: (1) the first stages of migration into the region; (2) the diversification and interactions of populations during the Middle and Late Holocene; and (3) the link between present-day and ancient populations. While genetic evidence from the early peopling stages is either absent or scarce, making it difficult to evaluate the relative contributions of early South American lineages in the first Patagonian populations, evidence from later periods (from Middle Holocene onwards) is consistent with a single migration wave with founding events and genetic drift acting on small groups during their migration southward. After the initial occupation, the population dynamics seem to have been characterised by the relative isolation of different groups, leading to their differentiation. While there is evidence of some degree of gene flow between groups, the genetic structure in the region is generally associated with geography, subsistence systems, and languages. After European contact, paleogenetic data supports a relative genetic continuity in the region. We finish this review with a fourth theme in which we reflect on the current state and direction of the field in Patagonia, highlighting research lines that will benefit from the implementation of state-of-the-art paleogenomic approach, as well as legal and ethical considerations that would allow to move forward into a more collaborative and inclusive field.


Paleogenetics, ancient DNA, uniparental lineages, genome-wide data, South America, Human Population Genetics, Demography

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