Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Laboratorio de Genética Molecular Humana, Departamento de Biología, Universidad del Valle, Cali, Colombia.
Mol Biol Evol. 2018 Nov 1;35(11):2719-2735. doi: 10.1093/molbev/msy169.
Human populations often exhibit contrasting patterns of genetic diversity in the mtDNA and the nonrecombining portion of the Y-chromosome (NRY), which reflect sex-specific cultural behaviors and population histories. Here, we sequenced 2.3 Mb of the NRY from 284 individuals representing more than 30 Native American groups from Northwestern Amazonia (NWA) and compared these data to previously generated mtDNA genomes from the same groups, to investigate the impact of cultural practices on genetic diversity and gain new insights about NWA population history. Relevant cultural practices in NWA include postmarital residential rules and linguistic exogamy, a marital practice in which men are required to marry women speaking a different language. We identified 2,969 SNPs in the NRY sequences, only 925 of which were previously described. The NRY and mtDNA data showed different sex-specific demographic histories: female effective population size has been larger than that of males through time, which might reflect larger variance in male reproductive success. Both markers show an increase in lineage diversification beginning ∼5,000 years ago, which may reflect the intensification of agriculture, technological innovations, and the expansion of regional trade networks documented in the archaeological evidence. Furthermore, we find similar excesses of NRY versus mtDNA between-population divergence at both the local and continental scale, suggesting long-term stability of female versus male migration. We also find evidence of the impact of sociocultural practices on diversity patterns. Finally, our study highlights the importance of analyzing high-resolution mtDNA and NRY sequences to reconstruct demographic history, since this can differ considerably between sexes.
人类群体的线粒体 DNA(mtDNA)和非重组 Y 染色体(NRY)部分通常表现出相反的遗传多样性模式,这反映了特定于性别的文化行为和群体历史。在这里,我们对来自西北亚马逊地区(NWA)的 30 多个美洲原住民群体的 284 个人的 NRY 进行了 2.3 Mb 的测序,并将这些数据与来自同一群体的先前生成的 mtDNA 基因组进行了比较,以调查文化实践对遗传多样性的影响,并获得有关 NWA 人口历史的新见解。NWA 中的相关文化实践包括婚后居住规则和语言外婚制,这是一种婚姻习俗,要求男性与讲不同语言的女性结婚。我们在 NRY 序列中鉴定出 2969 个 SNP,其中只有 925 个是以前描述过的。NRY 和 mtDNA 数据显示了不同的性别特定人口历史:女性有效种群规模随着时间的推移一直大于男性,这可能反映了男性生殖成功的更大差异。这两个标记都显示出谱系多样化的增加始于约 5000 年前,这可能反映了农业的集约化、技术创新以及考古证据中记录的区域贸易网络的扩张。此外,我们发现,无论是在本地还是在大陆范围内,NRY 与 mtDNA 之间的种群间分化都存在类似的过剩现象,这表明女性相对于男性的迁移长期稳定。我们还发现了社会文化实践对多样性模式的影响的证据。最后,我们的研究强调了分析高分辨率 mtDNA 和 NRY 序列以重建人口历史的重要性,因为这在性别之间可能有很大的差异。