Abstract
BackgroundThe ancestry of African-descended Americans is known to be drawn from three distinct populations: African, European, and Native American. While many studies consider this continental admixture, few account for the genetically distinct sources of ancestry within Africa – the continent with the highest genetic variation. Here, we dissect the within-Africa genetic ancestry of various populations of the Americas self-identified as having primarily African ancestry using uniparentally inherited mitochondrial DNA.Methods and Principal FindingsWe first confirmed that our results obtained using uniparentally-derived group admixture estimates are correlated with the average autosomal-derived individual admixture estimates (hence are relevant to genomic ancestry) by assessing continental admixture using both types of markers (mtDNA and Y-chromosome vs. ancestry informative markers). We then focused on the within-Africa maternal ancestry, mining our comprehensive database of published mtDNA variation (∼5800 individuals from 143 African populations) that helped us thoroughly dissect the African mtDNA pool. Using this well-defined African mtDNA variation, we quantified the relative contributions of maternal genetic ancestry from multiple W/WC/SW/SE (West to South East) African populations to the different pools of today's African-descended Americans of North and South America and the Caribbean.ConclusionsOur analysis revealed that both continental admixture and within-Africa admixture may be critical to achieving an adequate understanding of the ancestry of African-descended Americans. While continental ancestry reflects gender-specific admixture processes influenced by different socio-historical practices in the Americas, the within-Africa maternal ancestry reflects the diverse colonial histories of the slave trade. We have confirmed that there is a genetic thread connecting Africa and the Americas, where each colonial system supplied their colonies in the Americas with slaves from African colonies they controlled or that were available for them at the time. This historical connection is reflected in different relative contributions from populations of W/WC/SW/SE Africa to geographically distinct Africa-derived populations of the Americas, adding to the complexity of genomic ancestry in groups ostensibly united by the same demographic label.
Highlights
The ancestry of people in the Americas self-identified as having origin in Africa reflects the relatively recent admixture of three ‘‘continental’’ ancestral populations: African, European, and Native American [1]
Our analysis revealed that both continental admixture and within-Africa admixture may be critical to achieving an adequate understanding of the ancestry of African-descended Americans
While continental ancestry reflects genderspecific admixture processes influenced by different socio-historical practices in the Americas, the within-Africa maternal ancestry reflects the diverse colonial histories of the slave trade
Summary
The ancestry of people in the Americas self-identified as having origin in Africa reflects the relatively recent admixture of three ‘‘continental’’ ancestral populations: African, European, and Native American [1]. Association studies use autosomal ancestry-informative markers (AIMs) to correct for population stratification, assessing continental admixture by estimating ancestral proportions of an individual’s (West) African, European and sometimes Native American ancestry [1], [13,14,15,16,17,18] These AIMs-based studies are complemented by reports of continental group ancestry across a variety of populations of the Americas using markers in uniparentally inherited mitochondrial DNA (mtDNA, for example [2], [3], [19,20,21,22,23,24,25,26]) and the non-recombining portion of the Ychromosome (NRY, [27,28,29]) or a combination of both (for example [6], [30,31,32,33,34,35]).
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