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现今非非洲人类 Y 染色体源自东南亚。

A Southeast Asian origin for present-day non-African human Y chromosomes.

机构信息

Institute of Biomedicine and Translational Medicine, University of Tartu, 50411, Tartu, Estonia.

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

出版信息

Hum Genet. 2021 Feb;140(2):299-307. doi: 10.1007/s00439-020-02204-9. Epub 2020 Jul 14.

Abstract

The genomes of present-day humans outside Africa originated almost entirely from a single out-migration ~ 50,000-70,000 years ago, followed by mixture with Neanderthals contributing ~ 2% to all non-Africans. However, the details of this initial migration remain poorly understood because no ancient DNA analyses are available from this key time period, and interpretation of present-day autosomal data is complicated due to subsequent population movements/reshaping. One locus, however, does retain male-specific information from this early period: the Y chromosome, where a detailed calibrated phylogeny has been constructed. Three present-day Y lineages were carried by the initial migration: the rare haplogroup D, the moderately rare C, and the very common FT lineage which now dominates most non-African populations. Here, we show that phylogenetic analyses of haplogroup C, D and FT sequences, including very rare deep-rooting lineages, together with phylogeographic analyses of ancient and present-day non-African Y chromosomes, all point to East/Southeast Asia as the origin 50,000-55,000 years ago of all known surviving non-African male lineages (apart from recent migrants). This observation contrasts with the expectation of a West Eurasian origin predicted by a simple model of expansion from a source near Africa, and can be interpreted as resulting from extensive genetic drift in the initial population or replacement of early western Y lineages from the east, thus informing and constraining models of the initial expansion.

摘要

现今非洲以外的人类基因组几乎完全源自于一次 5 万至 7 万年前的单一外迁,随后与尼安德特人混合,使所有非非洲人中约有 2%携带有尼安德特人的基因。然而,由于这个关键时期没有可用的古 DNA 分析,并且由于后续的人口流动/重塑,对现今常染色体数据的解释变得复杂,因此这次初始迁移的细节仍未得到很好的理解。然而,有一个位点确实保留了这一早期的男性特有信息:Y 染色体,在那里构建了详细的校准系统发育树。最初的迁移携带了三种现今的 Y 谱系:罕见的单倍群 D、中等频率的单倍群 C 和非常常见的 FT 谱系,现在主导着大多数非非洲人群。在这里,我们表明,对单倍群 C、D 和 FT 序列的系统发育分析,包括非常罕见的深根系谱系,以及对古代和现今非非洲 Y 染色体的系统地理分析,都指向东亚/东南亚是所有已知幸存的非非洲男性谱系(除了最近的移民)的起源地,大约在 5 万至 5.5 万年前。这一观察结果与从非洲附近的单一来源向外扩张的简单模型所预测的西方欧亚起源的预期相反,可以解释为初始种群中广泛的遗传漂变或早期西部 Y 谱系被东部的替代,从而为初始扩张的模型提供了信息和限制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a184/7864842/a519c1ddebb6/439_2020_2204_Fig1_HTML.jpg

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