title: The genetic legacy of the pre-colonial period in contemporary Bolivians.
abstract: Only a few genetic studies have been carried out to date in Bolivia. However, some of the most important (pre)historical enclaves of South America were located in these territories. Thus, the (sub)-Andean region of Bolivia was part of the Inca Empire, the largest state in Pre-Columbian America. We have genotyped the first hypervariable region (HVS-I) of 720 samples representing the main regions in Bolivia, and these data have been analyzed in the context of other pan-American samples (>19,000 HVS-I mtDNAs). Entire mtDNA genome sequencing was also undertaken on selected Native American lineages. Additionally, a panel of 46 Ancestry Informative Markers (AIMs) was genotyped in a sub-set of samples. The vast majority of the Bolivian mtDNAs (98.4%) were found to belong to the main Native American haplogroups (A: 14.3%, B: 52.6%, C: 21.9%, D: 9.6%), with little indication of sub-Saharan and/or European lineages; however, marked patterns of haplogroup frequencies between main regions exist (e.g. haplogroup B: Andean [71%], Sub-Andean [61%], Llanos [32%]). Analysis of entire genomes unraveled the phylogenetic characteristics of three Native haplogroups: the pan-American haplogroup B2b (originated ∼21.4 thousand years ago [kya]), A2ah (∼5.2 kya), and B2o (∼2.6 kya). The data suggest that B2b could have arisen in North California (an origin even in the north most region of the American continent cannot be disregarded), moved southward following the Pacific coastline and crossed Meso-America. Then, it most likely spread into South America following two routes: the Pacific path towards Peru and Bolivia (arriving here at about ∼15.2 kya), and the Amazonian route of Venezuela and Brazil southwards. In contrast to the mtDNA, Ancestry Informative Markers (AIMs) reveal a higher (although geographically variable) European introgression in Bolivians (25%). Bolivia shows a decreasing autosomal molecular diversity pattern along the longitudinal axis, from the Altiplano to the lowlands. Both autosomes and mtDNA revealed a low impact (1-2%) of a sub-Saharan component in Bolivians.
authors.affiliation: Unidade de Xenética, Instituto de Ciencias Forenses and Departamento de Anatomía Patolóxica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain.
authors.forename: Patricia
authors.initials: P
authors.lastname: Taboada-Echalar
authors.forename: Vanesa
authors.initials: V
authors.lastname: Alvarez-Iglesias
authors.forename: Tanja
authors.initials: T
authors.lastname: Heinz
authors.forename: Laura
authors.initials: L
authors.lastname: Vidal-Bralo
authors.forename: Alberto
authors.initials: A
authors.lastname: Gómez-Carballa
authors.forename: Laura
authors.initials: L
authors.lastname: Catelli
authors.forename: Jacobo
authors.initials: J
authors.lastname: Pardo-Seco
authors.forename: Ana
authors.initials: A
authors.lastname: Pastoriza
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: Antonio
authors.initials: A
authors.lastname: Torres-Balanza
authors.forename: Omar
authors.initials: O
authors.lastname: Rocabado
authors.forename: Carlos
authors.initials: C
authors.lastname: Vullo
authors.forename: Antonio
authors.initials: A
authors.lastname: Salas
mesh_terms: D001838:Bolivia / Q000208:ethnology; D004272:DNA, Mitochondrial; D019143:Evolution, Molecular; D005819:Genetic Markers; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006630:Hispanic or Latino / Q000235:genetics*; D006801:Humans; D054643:INDEL Mutation; D058974:Phylogeography
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers