Mitochondrial variation among the Aymara and the signatures of population expansion in the central Andes

Abstract

Objectives: The exploitation of marine resources and intensive agriculture led to a marked population increase early in central Andean prehistory. Constant historic and prehistoric population movements also characterize this region. These features undoubtedly affected regional genetic variation, but the exact nature of these effects remains uncertain.

Methods: Mitochondrial DNA (mtDNA) hypervariable region I sequence variation in 61 Aymara individuals from La Paz, Bolivia, was analyzed and compared to sequences from 47 other South American populations to test hypotheses of whether increased female effective population size and gene flow influenced the mtDNA variation among central Andean populations.

Results: The Aymara and Quechua were genetically diverse showing evidence of population expansion and large effective population size, and a demographic expansion model fits the mtDNA variation found among central Andean populations well. Estimated migration rates and the results of AMOVA and multidimensional scaling analysis suggest that female gene flow was also an important factor, influencing genetic variation among the central Andeans as well as lowland populations from western South America. mtDNA variation in south central Andes correlated better with geographic proximity than with language, and fit a population continuity model.

Conclusion: The mtDNA data suggests that the central Andeans experienced population expansion, most likely because of rapid demographic expansion after introduction of intensive agriculture, but roles of female gene flow need to be further explored.

Fig. 1

Map of South America showing the locations of sampled populations.

Fig. 2

Multidimensional scaling (MDS) plot of South American populations.

Fig. 3

Mismatch distributions of mtDNA haplogroups. (a) It compares the mismatch distribution of four major mtDNA haplogroups among the central Andeans. (b) It compares the mismatch distribution of haplogroup B2 in Aymara, north central Quechua, and south central Quechua populations.