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对南美洲祖先和人口历史的基因组洞察。

Genomic Insights into the Ancestry and Demographic History of South America.

作者信息

Homburger Julian R, Moreno-Estrada Andrés, Gignoux Christopher R, Nelson Dominic, Sanchez Elena, Ortiz-Tello Patricia, Pons-Estel Bernardo A, Acevedo-Vasquez Eduardo, Miranda Pedro, Langefeld Carl D, Gravel Simon, Alarcón-Riquelme Marta E, Bustamante Carlos D

机构信息

Department of Genetics, Stanford University, Stanford, California, United States of America.

Laboratorio Nacional de Genómica para la Biodiversidad (LANGEBIO), CINVESTAV, Irapuato, Guanajuato, Mexico.

出版信息

PLoS Genet. 2015 Dec 4;11(12):e1005602. doi: 10.1371/journal.pgen.1005602. eCollection 2015 Dec.

Abstract

South America has a complex demographic history shaped by multiple migration and admixture events in pre- and post-colonial times. Settled over 14,000 years ago by Native Americans, South America has experienced migrations of European and African individuals, similar to other regions in the Americas. However, the timing and magnitude of these events resulted in markedly different patterns of admixture throughout Latin America. We use genome-wide SNP data for 437 admixed individuals from 5 countries (Colombia, Ecuador, Peru, Chile, and Argentina) to explore the population structure and demographic history of South American Latinos. We combined these data with population reference panels from Africa, Asia, Europe and the Americas to perform global ancestry analysis and infer the subcontinental origin of the European and Native American ancestry components of the admixed individuals. By applying ancestry-specific PCA analyses we find that most of the European ancestry in South American Latinos is from the Iberian Peninsula; however, many individuals trace their ancestry back to Italy, especially within Argentina. We find a strong gradient in the Native American ancestry component of South American Latinos associated with country of origin and the geography of local indigenous populations. For example, Native American genomic segments in Peruvians show greater affinities with Andean indigenous peoples like Quechua and Aymara, whereas Native American haplotypes from Colombians tend to cluster with Amazonian and coastal tribes from northern South America. Using ancestry tract length analysis we modeled post-colonial South American migration history as the youngest in Latin America during European colonization (9-14 generations ago), with an additional strong pulse of European migration occurring between 3 and 9 generations ago. These genetic footprints can impact our understanding of population-level differences in biomedical traits and, thus, inform future medical genetic studies in the region.

摘要

南美洲有着复杂的人口历史,这是由殖民前和殖民后时期的多次移民和混合事件所塑造的。美洲原住民在14000多年前就已在南美洲定居,与美洲其他地区一样,南美洲经历了欧洲人和非洲人的移民。然而,这些事件的时间和规模导致整个拉丁美洲的混合模式明显不同。我们使用来自5个国家(哥伦比亚、厄瓜多尔、秘鲁、智利和阿根廷)的437名混血个体的全基因组SNP数据,来探索南美拉丁裔的人口结构和人口历史。我们将这些数据与来自非洲、亚洲、欧洲和美洲的人群参考面板相结合,进行全球血统分析,并推断混血个体中欧洲和美洲原住民血统成分的次大陆起源。通过应用特定血统的主成分分析,我们发现南美拉丁裔中大部分欧洲血统来自伊比利亚半岛;然而,许多人的血统可以追溯到意大利,尤其是在阿根廷境内。我们发现南美拉丁裔的美洲原住民血统成分存在一个与原籍国和当地土著人口地理相关的强烈梯度。例如,秘鲁人的美洲原住民基因组片段与克丘亚和艾马拉等安第斯土著民族有更大的亲缘关系,而哥伦比亚人的美洲原住民单倍型则倾向于与南美洲北部的亚马逊和沿海部落聚类。通过血统片段长度分析,我们将殖民后的南美移民历史建模为拉丁美洲在欧洲殖民期间最年轻的(9至14代以前),在3至9代以前还发生了一次额外的强烈欧洲移民潮。这些基因印记会影响我们对生物医学性状人群水平差异的理解,从而为该地区未来的医学遗传学研究提供信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1842/4670080/b439f985a3ff/pgen.1005602.g001.jpg

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