The 82nd Annual Meeting of the American Association of Physical Anthropologists (2013)

Whole mitochondrial genome sequences from South America: insights into the demographic history of the continent


Department of Anthropology, Binghamton University

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When and how the first people entered into the Americas has continued to be of interest to scholars from various disciplines. Previous genetic studies have suggested four founding maternal lineages (A2, B2, C1, D1), and utilizing their time depth correlated with archaeological and environmental records, different scenarios have been proposed. The use of higher resolution mitochondrial DNA data has expanded the original four founding Native American lineages to fifteen, including A2, B2, C1b, C1c, C1d*, C1d1, D1 and D4h3a that appear in both North and South America. Still, genetic data from South America has been relatively lacking and inferences on demographic events in the southern continent have not been fully investigated. We sequenced twelve whole mitochondrial genomes of Yekuana individuals, an indigenous group native to the lowlands of southern Venezuela, and identified Native American haplogroups, A2, B2, C1b, C1c, C1d, and D1, which are consistent with the ancestral founders of the Americas. Examining the expanded whole genome data set of Native American populations, we compare nucleotide diversity levels and other population statistics between North and South American groups and suggest certain lineages (C1, D1) expanded and diversified more rapidly than others in South America. Overall, the results from this study support the archaeological evidence indicating the antiquity of South American lowland indigenous populations and contribute to our understandings of the broader demographic history.

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