A New Mitochondrial C1 Lineage from the Prehistory of Uruguay: Population Genocide, Ethnocide, and Continuity

Abstract

Uruguayan population has been considered as of European descent, as its Native populations victims of genocide apparently disappeared in the 19th century. Contradicting this national belief, genetic studies have shown a substantial Native contribution. However, the continuity between prehistoric, historic, and present populations remains unproved. With the aim of adding elements to prove a possible population continuity, we studied a mitochondrial lineage, part of haplogroup C1, analyzing the complete genome of a modern Uruguayan individual and the hypervariable region I (HVRI) in prehistoric, historic, and contemporary individuals. Several individuals carried the mutations that characterize this lineage: two from an archaeological mound located in the east of the country, the Charrúa Indian chief Vaimaca Perú and five individuals from the present population. The lineage was initially characterized by its HVRI sequence, having the four typical C1 mutations and adding 16051G and 16288C; other mutations were also found: 16140C was found in all but the oldest individual, dated 1,610 years BP, while 16209C, 16422C, and 16519C were found only in some individuals. Hypervariable region II showed the typical C1 mutations and 194T. The coding region, analyzed in modern individuals, was characterized by 12378T, while other mutations found were not common to all of them. In summary, we have found and described a new lineage that shows continuity from prehistoric mound builders to the present population, through a representative of the extinct Charrúa Indians. The lineage appeared at least 1,600 years ago and is carried by approximately 0.7% of the modern Uruguayan population. The continuity of the lineage supports alternative perspectives about Uruguayan national identity and the meaning of the genocide, best labeled as ethnocide because of its consequences. It also contributes to the discussion about who the prehistoric mound builders were, and to the origin, at least in the maternal line, of a Charrúa Indian. From a more general perspective, we can conclude that the characteristics, evolution, and expansion of founder haplogroup C in America have not yet been elucidated.

Identification of Whole Mitochondrial Genomes from Venezuela and Implications on Regional Phylogenies in South America

“…Mitochondrial DNA analysis in the Southern Cone region suggested subgroups such as D1g and B2i that occur in high frequencies in the region probably arose with the first migration wave into the continent but went through different phylogenetic trajectories (Bodner et al 2012;de Saint Pierre et al 2012). New lineages within haplogroups C1 and D1 have also been linked to local origins and continuity with prehistoric populations (Garcia et al 2012;Sans et al 2012). The Yekuana haplotypes add to the growing number of South American mitogenomes, particularly by expanding South American subhaplogroups (e.g.…”

Associations between male infertility and ancestry in South Americans: a case control study

“…As a first approach, hypervariable region I (HVRI, nucleotide positions [np] 16,024–16,400) following the revised Cambridge Reference Sequence [45] was amplified using primers 15,996 F [46] and 11R [47]. The amplification products were verified by electrophoresis on 2% agarose gel with ethidium bromide staining.…”

Foreword

“…The technical difficulties are mainly related to the quality of DNA samples and budget considerations. Through past analyses (e.g., Bonilla et al 2015;Figueiro, Hidalgo, and Sans 2011;Hidalgo et al 2014;Sans et al 2011;Sans, Figueiro, and Hidalgo 2012;Sans, Mones, et al 2015), an important reserve of DNA samples has been amassed that could be subjected to high-resolution (both nuclear and mitochondrial-genomic) analyses. However, many of them are not of good enough quality for NGS workflows, which require the amplification of long (ß10Kb) fragments as a first step.…”