Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City, 14610, Mexico.
Instituto de Biotecnología, Universidad Nacional Autónoma de México (UNAM), Cuernavaca, Morelos, 62210, Mexico.
Nat Commun. 2017 Oct 18;8(1):1005. doi: 10.1038/s41467-017-01194-z.
Understanding the genetic structure of Native American populations is important to clarify their diversity, demographic history, and to identify genetic factors relevant for biomedical traits. Here, we show a demographic history reconstruction from 12 Native American whole genomes belonging to six distinct ethnic groups representing the three main described genetic clusters of Mexico (Northern, Southern, and Maya). Effective population size estimates of all Native American groups remained below 2,000 individuals for up to 10,000 years ago. The proportion of missense variants predicted as damaging is higher for undescribed (~ 30%) than for previously reported variants (~ 15%). Several variants previously associated with biological traits are highly frequent in the Native American genomes. These findings suggest that the demographic and adaptive processes that occurred in these groups shaped their genetic architecture and could have implications in biological processes of the Native Americans and Mestizos of today.
了解美洲原住民群体的遗传结构对于阐明其多样性、人口历史以及确定与生物医学特征相关的遗传因素非常重要。在这里，我们展示了来自 12 个属于六个不同族群的美洲原住民全基因组的人口历史重建，这些族群代表了墨西哥（北部、南部和玛雅）三个主要描述的遗传聚类。所有美洲原住民群体的有效种群规模估计在 10000 年前一直低于 2000 人。未描述的变异（30%）比先前报道的变异（15%）预测为有害的错义变异的比例更高。先前与生物学特征相关的几个变异在美洲原住民基因组中高度频繁。这些发现表明，这些群体中发生的人口和适应过程塑造了它们的遗传结构，并可能对当今美洲原住民和梅斯蒂索人的生物学过程产生影响。
