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

CAPUTO, M.; AMADOR, M. A.; SALA, A.; RIVEIRO DOS SANTOS, A.; SANTOS, S.; CORACH, D.

MOLECULAR GENETICS AND GENOMICS

SPRINGER HEIDELBERG

Año: 2021

1617-4615

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 unrelatedArgentinean individuals living in urban areas of Argentina. As in most American countries, the extant Argentinean populationis the result of tricontinental genetic admixture. The peopling process within the continent was characterised by matingbias involving Native American and enslaved African females and European males. Differential results were detectedbetween autosomal DIPs and X-DIPs. The former showed that the European component was the largest (77.8%), followedby 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%) andconsiderably larger Native American and African contributions (39.6% and 7.5%, respectively). Genetic analysis revealedcontinental genetic contributions whose associated phenotypic traits have been mostly lost. The observed differences betweenthe estimated continental genetic contribution proportions based on autosomal DIPs and X-DIPs reflect the effects of autosomeand X-chromosome transmission behaviour and their different recombination patterns. This work shows the ability ofthe tested DIP panels to infer ancestry and confirm mating bias. To the best of our knowledge, this is the first study focusingon ancestry-informative autosomal DIP and X-DIP comparisons performed in a sample representing the entire Argentineanpopulation.