Inferring Continental Ancestry of Argentineans from Autosomal, Y‐Chromosomal and Mitochondrial DNA

Abstract

SummaryWe investigated the bio-geographic ancestry of Argentineans, and quantified their genetic admixture, analyzing 246 unrelated male individuals from eight provinces of three Argentinean regions using ancestry-sensitive DNA markers (ASDM) from autosomal, Y and mitochondrial chromosomes. Our results demonstrate that European, Native American and African ancestry components were detectable in the contemporary Argentineans, the amounts depending on the genetic system applied, exhibiting large inter-individual heterogeneity. Argentineans carried a large fraction of European genetic heritage in their Y-chromosomal (94.1%) and autosomal (78.5%) DNA, but their mitochondrial gene pool is mostly of Native American ancestry (53.7%); instead, African heritage was small in all three genetic systems (<4%). Population substructure in Argentina considering the eight sampled provinces was very small based on autosomal (0.92% of total variation was between provincial groups, p = 0.005) and mtDNA (1.77%, p = 0.005) data (none with NRY data), and all three genetic systems revealed no substructure when clustering the provinces into the three geographic regions to which they belong. The complex genetic ancestry picture detected in Argentineans underscores the need to apply ASDM from all three genetic systems to infer geographic origins and genetic admixture. This applies to all worldwide areas where people with different continental ancestry live geographically close together.

Impact of A118G Polymorphism on the Mu Opioid Receptor Function in Pain

“…We defined three clusters: African (ASW, YRI and MKK), Asian (CHB, CHD, JPT and GIH), and European-American (CTES, CEU, TSI and MEX). Since American populations have an extensive genetic admixture pattern produced by AmerindiansEuropeans intermarriage [54,55], we decided to pool American and European populations. Within each cluster A118G SNP failed to detect population substructures (all p values > 0.09).…”

Characterization of the AZF region of the Y chromosome in Native American haplogroup Q

“…Owing this information, a sample belonging to haplogroup N (from a previous study, Corach et al 2010) was also amplified and the sY1191 deletion described was confirmed for this haplogroup. It is important to highlight that both studies used the same primer sequences to amplify this marker, but differences rely on the number of Q1a3a1 (derivative state for M3) samples used (37 vs. 3) and the paternity confirmation (samples analyzed by Repping et al has an unknown spermatogenic phenotype and DNA was from EBV-transformed lymphoblastoid cell lines).…”

“…(YCC 2002) An important remark is that the information available on the Y chromosome sequence in GenBank belongs to one single man's Y chromosome from the European haplogroup R (Jobling and Tyler-Smith 2003;Skaletsky, Kuroda-Kawaguchi et al 2003 (ISOGG 2011). In Argentina, haplogroup R1b1a2 was described as the more prevalent among the urban male population (Corach et al 2010). …”

“…It is still unknown whether America was settled from a single founder lineage or if the haplogroup Q1a3a1 had higher fitness than other migrating lineages and was the only paternal lineage that survived through thousands of years in this continent. (Corach et al 2010) With newly developed genetic tools, by Real Time PCR, it is possible to screen the urban population looking for the individuals belonging to haplogroup Q1a3a1, as well as haplogroup I and the GenBank`s reference haplogroup R (Zuccarelli, Alechine et al 2011).…”

Evaluación del número mínimo de marcadores para estimar ancestría individual en una muestra de la población argentina

“…Estudios previos muestran que existen importantes diferencias regionales, dadas tanto por las cantidades relativas de cada componente como por la intensidad y dirección del proceso de mestizaje (Avena et al 2012;Corach et al 2010;García et al 2011, entre otros).…”