Abstract

In 1985, a frozen mummy was found in Cerro Aconcagua (Argentina). Archaeological studies identified the mummy as a seven-year-old Inca sacrifice victim who lived >500 years ago, at the time of the expansion of the Inca Empire towards the southern cone. The sequence of its entire mitogenome was obtained. After querying a large worldwide database of mitogenomes (>28,000) we found that the Inca haplotype belonged to a branch of haplogroup C1b (C1bi) that has not yet been identified in modern Native Americans. The expansion of C1b into the Americas, as estimated using 203 C1b mitogenomes, dates to the initial Paleoindian settlements (~18.3 thousand years ago [kya]); however, its internal variation differs between Mesoamerica and South America. By querying large databases of control region haplotypes (>150,000), we found only a few C1bi members in Peru and Bolivia (e.g. Aymaras), including one haplotype retrieved from ancient DNA of an individual belonging to the Wari Empire (Peruvian Andes). Overall, the results suggest that the profile of the mummy represents a very rare sub-clade that arose 14.3 (5–23.6) kya and could have been more frequent in the past. A Peruvian Inca origin for present-day C1bi haplotypes would satisfy both the genetic and paleo-anthropological findings.

Highlights

  • Ermini et al.[10] analyzed the Tyrolean Iceman, a 46-year-old man who lived in the Neolithic-Copper Age transition in Central Europe about 5 kya; this represented the first complete mitochondrial genome sequence of a prehistoric European

  • Monsalve et al.[9] analyzed the Kwäday Dän Ts’ìchi ancient remains of a man found in a melting glacier in British Columbia (Canada); the authors could characterize his mitochondrial DNA (mtDNA) as belonging to haplogroup A, and found matches in populations from across the whole American continent

  • No EF660742 and EF660743); this was identified as another Inca sacrifice victim: a 12–14-year-old child who lived in Mount Ampato about 500 years ago; its mtDNA haplotype could be allocated to haplogroup A

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Summary

Results and Discussion

DNA was extracted from a small piece of lung of the mummy (Fig. 1). The haplotype of the mummy has 51 variants with respect to the rCRS17 (Table 1). The fact that C1bi is very uncommon in present-day populations from South America could be explained by insufficient sampling of modern populations ( the present-day haplotype databases of mitogenomes and partial mtDNA sequences are very large). This rarity could reflect important changes in the gene pool of South America since the period of the Inca civilization. Further research on modern and ancient South American populations, preferably based on the sequencing of mitogenomes to a population level, would probably allow a better understanding of the maternal lineage observed in the mummy and the demography of the Incas

Material and Methods
Sequence range
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