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阿根廷中部的古今线粒体基因组:南美洲人口连续性、时间深度和迁徙的新见解。

Ancient and modern mitogenomes from Central Argentina: new insights into population continuity, temporal depth and migration in South America.

机构信息

Departamento de Antropología, Facultad de Filosofía y Humanidades, Universidad Nacional de Córdoba, Córdoba 5000, Argentina.

Instituto de Antropología de Córdoba (IDACOR), CONICET, Universidad Nacional de Córdoba, Córdoba 5000, Argentina.

出版信息

Hum Mol Genet. 2021 Jun 17;30(13):1200-1217. doi: 10.1093/hmg/ddab105.

Abstract

The inverted triangle shape of South America places Argentina territory as a geographical crossroads between the two principal peopling streams that followed either the Pacific or the Atlantic coasts, which could have then merged in Central Argentina (CA). Although the genetic diversity from this region is therefore crucial to decipher past population movements in South America, its characterization has been overlooked so far. We report 92 modern and 22 ancient mitogenomes spanning a temporal range of 5000 years, which were compared with a large set of previously reported data. Leveraging this dataset representative of the mitochondrial diversity of the subcontinent, we investigate the maternal history of CA populations within a wider geographical context. We describe a large number of novel clades within the mitochondrial DNA tree, thus providing new phylogenetic interpretations for South America. We also identify several local clades of great temporal depth with continuity until the present time, which stem directly from the founder haplotypes, suggesting that they originated in the region and expanded from there. Moreover, the presence of lineages characteristic of other South American regions reveals the existence of gene flow to CA. Finally, we report some lineages with discontinuous distribution across the Americas, which suggest the persistence of relic lineages likely linked to the first population arrivals. The present study represents to date the most exhaustive attempt to elaborate a Native American genetic map from modern and ancient complete mitochondrial genomes in Argentina and provides relevant information about the general process of settlement in South America.

摘要

南美洲的倒三角形形状使阿根廷领土成为沿着太平洋或大西洋海岸而来的两个主要移民流的地理交叉点,这些移民随后可能在阿根廷中部(CA)融合。尽管该地区的遗传多样性对于破译南美洲过去的人口迁移至关重要,但迄今为止,其特征尚未得到充分认识。我们报告了 92 个现代和 22 个古代线粒体基因组,时间跨度为 5000 年,这些基因组与大量先前报告的数据进行了比较。利用代表该次大陆线粒体多样性的这一数据集,我们在更广泛的地理背景下研究了 CA 人群的母系历史。我们在线粒体 DNA 树中描述了大量新的支系,从而为南美洲提供了新的系统发育解释。我们还确定了几个具有很大时间深度且至今仍保持连续性的局部支系,它们直接源自创始单倍型,表明它们起源于该地区并从那里扩展而来。此外,其他南美地区特有的谱系的存在表明存在流向 CA 的基因流。最后,我们报告了一些在美洲大陆呈不连续分布的谱系,这表明可能存在与第一批人口到达有关的遗迹谱系的存在。本研究是迄今为止在阿根廷使用现代和古代完整线粒体基因组详细阐述美洲原住民遗传图谱的最详尽尝试,并提供了有关南美洲定居总体过程的相关信息。

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