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The Genetic Legacy of the Pre-Colonial Period in Contemporary Bolivians

机译：预殖民时期的遗传遗产在当代玻利维亚

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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.
机译：迄今为止，玻利维亚仅进行了少数基因研究。但是，南美一些最重要的（史前）飞地都位于这些地区。因此，玻利维亚的（亚）安第斯地区是印加帝国的一部分，这是前哥伦布时期美国最大的州。我们已经对代表玻利维亚主要地区的720个样本的第一个高变区（HVS-1）进行了基因分型，并且在其他泛美样本（> 19,000个HVS-1 mtDNA）的背景下对这些数据进行了分析。还对部分美洲原住民血统进行了整个mtDNA基因组测序。此外，在一组样本子集中对一组46个祖先信息标记（AIM）进行了基因分型。发现玻利维亚的绝大多数mtDNA（98.4％）属于主要的美洲原住民单倍群（A：14.3％，B：52.6％，C：21.9％，D：9.6％），几乎没有撒哈拉以南地区的迹象。和/或欧洲血统；但是，在主要区域之间存在明显的单倍群频率模式（例如，单倍群B：安第斯[71％]，安第斯次区域[61％]，拉诺斯[32％]）。整个基因组的分析揭示了三个本地单倍群的系统发育特征：泛美单倍群B2b（起源于约2.14万年前），A2ah（约5.2 kya）和B2o（约2.6 kya）。数据表明，B2b可能起源于北加利福尼亚州（即使是在美国大陆最北端的地区也不能忽略其起源），在太平洋沿海岸线向南移动并越过中美美洲时也可能出现。然后，它很可能通过两条路线传播到南美洲：通往秘鲁和玻利维亚的太平洋路线（到达这里约15.2公里），以及向南到达委内瑞拉和巴西的亚马逊路线。与mtDNA相比，祖先信息标记（AIM）揭示了玻利维亚人的欧洲渗入程度较高（尽管地理上存在差异）（25％）。玻利维亚从高原到低地沿纵轴显示出减少的常染色体分子多样性模式。常染色体和mtDNA都显示出玻利维亚人对撒哈拉以南地区成分的影响较小（1-2％）。

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