Ancient mitochondrial genome diversity in South America: Contributions from Quebrada del Toro, Northwestern Argentina

RUSSO, MARÍA GABRIELA; ARENCIBIA, VALERIA; EMERY, MATTHEW; BETTERA MARCAT, GIANINA; SELDES, VERÓNICA; MERCOLLI, PABLO; SORIA, SILVIA; MALDONADO, LUCAS; KAMENETZKY, LAURA; AVENA, SERGIO; DEJEAN, CRISTINA; STONE, ANNE C.

American Journal of Biological Anthropology

Wiley

Año: 2023

2692-7691

Objectives: The objective of this study was to enhance our understanding of thepopulation history in South America, specifically Northwestern Argentina, by analyzingcomplete ancient mitogenomes of individuals from the Ojo de Agua archeologicalsite (970 BP) in Quebrada del Toro (Salta, Argentina).Materials and Methods: We analyzed teeth from four individuals from the site Ojode Agua (970 ± 60 BP), located in Quebrada del Toro (Andean region of NorthwesternArgentina). DNA extracts were converted to double-stranded DNA libraries andindexed using unique dual-indexing primer combinations. DNA libraries were thenenriched for the complete mitochondrial genome, pooled at equimolar concentrations,and sequenced on an Illumina® MiSeq™ platform. Reads from high qualitylibraries were trimmed, merged, and then mapped to the revised Cambridge ReferenceSequence. The aDNA damage patterns were assessed and contamination estimated.Finally, variants were called, filtered, and the consensus mitogenome wasconstructed and used for haplogroup assignment. We also compiled available mitogenomesequences from ancient and present-day populations from the SouthcentralAndes and other surrounding regions in Argentina. Maximum Likelihood and Bayesianphylogenetic reconstructions were obtained using the generated dataset.Results: We successfully obtained the complete mitogenome sequence from oneindividual with an average depth coverage of 102X. We discovered a novel haplotypethat was assigned to haplogroup D1. Phylogenetic reconstructions suggests that thishaplotype falls within the sister branches of the D1j lineage, forming a wellsupportedclade. The estimate TMRCA of this clade that includes D1j and its sisterbranches ranged between 12,535 and 18,669 ya.Discussion: The sequence analyzed in this study represents the first ancient mitogenomefrom within the valley region in Northwestern Argentina. We found that a representativeof a lineage highly associated with D1j was already present approximately1000 BP in the region. Our results agree with the proposed origin of D1j in otherregions north of Patagonia and independent of the Pacific coast fast migratory route, contrary to what was originally hypothesized. This study highlights the lack ofinformation regarding pre-Hispanic genetic diversity and contributes to theknowledge about the peopling process in South America.