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Recovering mitochondrial DNA lineages of extinct Amerindian nations in extant homopatric Brazilian populations

机译：在现存的同族巴西人口中恢复绝种的美洲印第安人线粒体DNA谱系

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Background Brazilian Amerindians have experienced a drastic population decrease in the past 500 years. Indeed, many native groups from eastern Brazil have vanished. However, their mitochondrial mtDNA haplotypes, still persist in Brazilians, at least 50 million of whom carry Amerindian mitochondrial lineages. Our objective was to test whether, by analyzing extant rural populations from regions anciently occupied by specific Amerindian groups, we could identify potentially authentic mitochondrial lineages, a strategy we have named 'homopatric targeting'. Results We studied 173 individuals from Queixadinha, a small village located in a territory previously occupied by the now extinct Botocudo Amerindian nation. Pedigree analysis revealed 74 unrelated matrilineages, which were screened for Amerindian mtDNA lineages by restriction fragment length polymorphism. A cosmopolitan control group was composed of 100 individuals from surrounding cities. All Amerindian lineages identified had their hypervariable segment HVSI sequenced, yielding 13 Amerindian haplotypes in Queixadinha, nine of which were not present in available databanks or in the literature. Among these haplotypes, there was a significant excess of haplogroup C (70%) and absence of haplogroup A lineages, which were the most common in the control group. The novelty of the haplotypes and the excess of the C haplogroup suggested that we might indeed have identified Botocudo lineages. To validate our strategy, we studied teeth extracted from 14 ancient skulls of Botocudo Amerindians from the collection of the National Museum of Rio de Janeiro. We recovered mtDNA sequences from all the teeth, identifying only six different haplotypes (a low haplotypic diversity of 0.8352 ± 0.0617), one of which was present among the lineages observed in the extant individuals studied. Conclusions These findings validate the technique of homopatric targeting as a useful new strategy to study the peopling and colonization of the New World, especially when direct analysis of genetic material is not possible.
机译：背景资料在过去的500年中，巴西美洲印第安人的人口急剧减少。确实，来自巴西东部的许多土著群体已经消失了。但是，他们的线粒体mtDNA单倍型在巴西人中仍然存在，其中至少有5000万携带美洲印第安人线粒体谱系。我们的目标是通过分析古老的特定美洲印第安人群体所占地区的现存农村人口，来检验我们是否可以识别出潜在地道的线粒体谱系，这一策略被我们称为“同源靶向”。结果我们研究了来自Queixadinha的173个人，Queixadinha是一个小村庄，该村庄位于以前已灭绝的Botocudo美洲印第安人国家占领的领土上。谱系分析显示74个不相关的母系，通过限制性片段长度多态性筛选了美洲印第安人mtDNA谱系。一个国际性的控制小组由来自周围城市的100个人组成。识别出的所有美洲印第安人血统均对其高变区段HVSI进行了测序，从而在Queixadinha中产生了13种美洲印第安人单倍型，其中九种不在现有数据库或文献中。在这些单倍型中，有显着过量的单倍型C（70％）和不存在单倍型A谱系，这是对照组中最常见的。单倍型的新颖性和C单倍型的过量表明我们可能确实鉴定了Botocudo谱系。为了验证我们的策略，我们研究了从里约热内卢国家博物馆收藏中的14个Botocudo美洲印第安人古代头骨中提取的牙齿。我们从所有牙齿中恢复了mtDNA序列，仅鉴定了六种不同的单倍型（低单倍型多样性为0.8352±0.0617），其中一种存在于研究的现存个体的谱系中。结论这些发现证实了以同族为目标的技术是研究新世界的人口和殖民化的一种有用的新策略，特别是在无法直接分析遗传物质的情况下。

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