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Ancestral genetic legacy of the extant population of Argentina as predicted by autosomal and X-chromosomal DIPs

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Abstract

Aiming to determine their ancestry diagnostic potential, we selected two sets of nuclear deletion/insertion polymorphisms (DIPs), including 30 located on autosomal chromosomes and 33 on the X chromosome. We analysed over 200 unrelated Argentinean individuals living in urban areas of Argentina. As in most American countries, the extant Argentinean population is the result of tricontinental genetic admixture. The peopling process within the continent was characterised by mating bias involving Native American and enslaved African females and European males. Differential results were detected between autosomal DIPs and X-DIPs. The former showed that the European component was the largest (77.8%), followed by the Native American (17.9%) and African (4.2%) components, in good agreement with the previously published results. In contrast, X-DIPs showed that the European genetic contribution was also predominant but much smaller (52.9%) and considerably larger Native American and African contributions (39.6% and 7.5%, respectively). Genetic analysis revealed continental genetic contributions whose associated phenotypic traits have been mostly lost. The observed differences between the estimated continental genetic contribution proportions based on autosomal DIPs and X-DIPs reflect the effects of autosome and X-chromosome transmission behaviour and their different recombination patterns. This work shows the ability of the tested DIP panels to infer ancestry and confirm mating bias. To the best of our knowledge, this is the first study focusing on ancestry-informative autosomal DIP and X-DIP comparisons performed in a sample representing the entire Argentinean population.

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Funding

This work was supported, in part, by grants PIP0914 (CONICET) and 20020130100783BA (UBACyT) to Daniel Corach and by resources provided by SHDG (Forensic DNA Fingerprinting Service). The funding agencies had no role in the study design, data collection and analysis, decision to publish or preparation of the manuscript. Daniel Corach, Andrea Sala and Mariela Caputo are members of Carrera del Investigador Cientifico CONICET (National Scientific and Technical Research Council).

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Donors participated in paternity tests and signed a written consent statement approved by the Ethical Committee of SPB-UBA.

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Caputo, M., Amador, M.A., Sala, A. et al. Ancestral genetic legacy of the extant population of Argentina as predicted by autosomal and X-chromosomal DIPs. Mol Genet Genomics 296, 581–590 (2021). https://doi.org/10.1007/s00438-020-01755-w

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