Abstract
Based on mitochondrial DNA (mtDNA), it has been estimated that at least 15 founder haplogroups peopled the Americas. Subhaplogroup C1d3 was defined based on the mitogenome of a living individual from Uruguay that carried a lineage previously identified in hypervariable region I sequences from ancient and modern Uruguayan individuals. When complete mitogenomes were studied, additional substitutions were found in the coding region of the mitochondrial genome. Using a complete ancient mitogenome and three modern mitogenomes, we aim to clarify the ancestral state of subhaplogroup C1d3 and to better understand the peopling of the region of the Río de la Plata basin, as well as of the builders of the mounds from which the ancient individuals were recovered. The ancient mitogenome, belonging to a female dated to 1,610±46 years before present, was identical to the mitogenome of one of the modern individuals. All individuals share the mutations defining subhaplogroup C1d3. We estimated an age of 8,974 (5,748–12,261) years for the most recent common ancestor of C1d3, in agreement with the initial peopling of the geographic region. No individuals belonging to the defined lineage were found outside of Uruguay, which raises questions regarding the mobility of the prehistoric inhabitants of the country. Moreover, the present study shows the continuity of Native lineages over at least 6,000 years.
Highlights
The first study of ancient populations of Uruguay was based on a short segment of the hypervariable region I (HVRI) of the mitochondrial genome in five individuals [1]
Complete mitogenome sequences corresponding to the ancient individual CH2D01-20 and living individuals M22, KC018 and KC208 were published in GenBank (accession numbers KP017255, KP017258, KP017256, and KP017257 respectively), added to the previously published individual B11
Mutation at np16519 is shared by three individuals (KC208, CH2D01-20 and B11) and its absence in KC018 and M22 can be considered as a reversion in that line
Summary
The first study of ancient populations of Uruguay was based on a short segment of the hypervariable region I (HVRI) of the mitochondrial genome in five individuals [1]. Three individuals carried haplogroup C, one carried haplogroup B, and one could not be determined. Two C1 individuals shared, besides the diagnostic mutations related to the haplogroup in the segment 16192–16355, a transition at nucleotide position (np) 16288C. PLOS ONE | DOI:10.1371/journal.pone.0141808 October 28, 2015
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