mtDNA and Y‐chromosome diversity in Aymaras and Quechuas from Bolivia: Different stories and special genetic traits of the Andean Altiplano populations

Abstract

Two Bolivian samples belonging to the two main Andean linguistic groups (Aymaras and Quechuas) were studied for mtDNA and Y-chromosome uniparental markers to evaluate sex-specific differences and give new insights into the demographic processes of the Andean region. mtDNA-coding polymorphisms, HVI-HVII control regions, 17 Y-STRs, and three SNPs were typed in two well-defined populations with adequate size samples. The two Bolivian samples showed more genetic differences for the mtDNA than for the Y-chromosome. For the mtDNA, 81% of Aymaras and 61% of Quechuas presented haplogroup B2. Native American Y-chromosomes were found in 97% of Aymaras (89% hg Q1a3a and 11% hg Q1a3*) and 78% of Quechuas (100% hg Q1a3a). Our data revealed high diversity values in the two populations, in agreement with other Andean studies. The comparisons with the available literature for both sets of markers indicated that the central Andean area is relatively homogeneous. For mtDNA, the Aymaras seemed to have been more isolated throughout time, maintaining their genetic characteristics, while the Quechuas have been more permeable to the incorporation of female foreigners and Peruvian influences. On the other hand, male mobility would have been widespread across the Andean region according to the homogeneity found in the area. Particular genetic characteristics presented by both samples support a past common origin of the Altiplano populations in the ancient Aymara territory, with independent, although related histories, with Peruvian (Quechuas) populations.

Prevalence, Clinical Profile, Iron Status, and Subject-Specific Traits for Excessive Erythrocytosis in Andean Adults Living Permanently at 3,825 Meters Above Sea Level

“…Studies have identifi ed candidate genes that help explain diff erences in prevalence of EE reported in South America, Tibet, and Africa, [18][19][20] but none of these studies have addressed potential genetic diff erences among Quechuas and Aymaras. Moreover, Gayà-Vidal et al 21 propose that Aymaras have been genetically more isolated than Quechuas which could have helped Aymaras preserve genes that favor high-altitude adaptation. Th erefore , it may not be surprising that higher altitude and genetic admixture may help explain diff erences in the prevalence of EE between our study and previous work.…”

Genetic Diversity of a Late Prehispanic Group of the Quebrada de Humahuaca, Northwestern Argentina

“…This lineage is generally not as widespread among ancient highland groups (FehrenSchmitz et al, 2010b) and contemporary Andean populations (Fuselli et al, 2003;Lewis et al, 2005Lewis et al, , 2007AlvarezIglesias et al, 2007;Corella et al, 2007;Afonso Costa et al, 2010;Barbieri et al, 2011;Gaya-Vidal et al, 2011). The majority of the contemporary Andean populations are characterized by a high frequency of haplogroup B2 (Table S2), which is detected at a frequency of 25% in this RDP group from Humahuaca.…”

“…Haplotype H4 was detected in contemporary populations inhabiting the Andean foothills (Bert et al, 2004) and the plains located east of the study area (Chaco area and plains of Argentina and Brazil) (Cabana et al, 2006;Marrero et al, 2007). Haplotypes H10 and H11, belonging to haplogroup B2, were shared exclusively with ancient and contemporary Andean populations (Cabana et al, 2006;Alvarez-Iglesias et al, 2007;Afonso Costa et al, 2010;Barbieri et al, 2011;Gaya-Vidal et al, 2011). Finally, haplotype H12 was shared with two contemporary Andean individuals (Afonso Costa et al, 2010;Barbieri et al, 2011) and three individuals of the extant Guahibo population (Vona et al, 2005).…”

Rapid coastal spread of First Americans: Novel insights from South America's Southern Cone mitochondrial genomes

“…To better evaluate the geographical distribution of the novel haplogroups, we surveyed published and unpublished CR data from a wide range of populations (Ginther et al 1993;Horai et al 1993;Alves-Silva et al 2000;Moraga et al 2000;Lalueza-Fox et al 2001;García-Bour et al 2004;Tajima et al 2004;Cabana et al 2006;Á lvarez-Iglesias et al 2007;Tamm et al 2007;Carvalho et al 2008;Salas et al 2008;Bobillo et al 2010;Catelli et al 2011;Gayà-Vidal et al 2011;Prieto et al 2011;Sans et al 2011;MC Bobillo, unpubl.). This allowed the identification of 103 putative D1g and D1j mtDNAs (Supplemental Table S3).…”