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来自巴塔哥尼亚大陆南部晚全新世的新型B2线粒体基因组:对南锥体地区人类迁徙的新见解。

Novel B2 mitogenomes from Continental southern Patagonia's Late Holocene: New insights into the peopling of the Southern Cone.

作者信息

Arencibia Valeria, Muñoz Marianne, Crespo Cristian M, Russo M Gabriela, Vera Pablo, Lia Verónica V, García Guraieb Solana, Goñi Rafael A, Avena Sergio, Puebla Andrea, Dejean Cristina B

机构信息

Equipo de Antropología Biológica, CCNAA, Universidad Maimónides, Buenos Aires, Argentina.

Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.

出版信息

Am J Biol Anthropol. 2025 Jan;186(1):e24822. doi: 10.1002/ajpa.24822. Epub 2023 Aug 7.

Abstract

OBJECTIVES

The main aim of this study is to discuss the migratory processes and peopling dynamics that shaped the genetic variability of populations during the settlement of the Southern Cone, through the analysis of complete mitogenomes of individuals from southern Patagonia.

MATERIALS AND METHODS

Complete mitogenomes were sequenced through massively parallel sequencing from two late Holocene individuals (SAC 1-1-3 and SAC 1-1-4) buried in the same chenque at Salitroso Lake Basin (Santa Cruz province, Argentina). To evaluate matrilineal phylogenetic affinities with other haplotypes, maximum likelihood and Bayesian phylogenetic reconstructions were performed, as well as a haplotype median-joining network.

RESULTS

The mitogenomes were assigned to haplogroups B2 and B2b, exhibiting an average depth of 54X and 89X (≥1X coverage of 98.6% and 100%), and a high number of nucleotide differences among them. The phylogenetic analyses showed a relatively close relationship between the haplotype found in SAC 1-1-4 and those retrieved from a Middle Holocene individual from Laguna Chica (Buenos Aires province), and from a group of individuals from the Peruvian coast. For the SAC 1-1-3, no clear affiliations to any other haplotype were established.

DISCUSSION

The large divergence between the haplotypes presented in this study suggests either a highly variable founder gene pool, or a later enrichment by frequent biological contact with other populations. Our results underline the persistence of genetic signals related to the first waves of peopling in South America, suggesting that the regional settlement of the southern end of the continent has been much more complex than initially thought.

摘要

目的

本研究的主要目的是通过分析来自巴塔哥尼亚南部个体的完整线粒体基因组,探讨在南美洲南端定居期间塑造人群遗传变异性的迁徙过程和人口动态。

材料与方法

通过大规模平行测序对埋葬在阿根廷圣克鲁斯省萨利特罗索湖盆地同一陈克(chenque)中的两名晚全新世个体(SAC 1-1-3和SAC 1-1-4)的完整线粒体基因组进行测序。为了评估与其他单倍型的母系系统发育亲缘关系,进行了最大似然法和贝叶斯系统发育重建,以及单倍型中介连接网络分析。

结果

线粒体基因组被归入单倍群B2和B2b,平均深度分别为54X和89X(≥1X覆盖率分别为98.6%和100%),且它们之间存在大量核苷酸差异。系统发育分析表明,在SAC 1-1-4中发现的单倍型与从布宜诺斯艾利斯省拉古纳奇卡的一个中全新世个体以及一组来自秘鲁海岸的个体中检索到的单倍型之间存在相对密切的关系。对于SAC 1-1-3,未确定与任何其他单倍型有明确的亲缘关系。

讨论

本研究中呈现的单倍型之间的巨大差异表明,要么是一个高度可变的奠基者基因库,要么是后来通过与其他人群的频繁生物接触而富集。我们的结果强调了与南美洲首批定居浪潮相关的遗传信号的持久性,表明该大陆南端的区域定居比最初想象的要复杂得多。

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