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等位基因谱系与人类进化。

Allelic genealogy and human evolution.

作者信息

Takahata N

机构信息

National Institute of Genetics, Graduate University for Advanced Studies, Mishima, Japan.

出版信息

Mol Biol Evol. 1993 Jan;10(1):2-22. doi: 10.1093/oxfordjournals.molbev.a039995.

Abstract

Genetic variation at most loci examined in human populations indicates that the (effective) population size has been approximately 10(4) for the past 1 Myr and that individuals have been genetically united rather tightly. Also suggested is that the population size has never dropped to a few individuals, even in a single generation. These impose important requirements for the hypotheses for the origin of modern humans: a relatively large population size and frequent migration if populations were geographically subdivided. Any hypothesis that assumes a small number of founding individuals throughout the late Pleistocene can be rejected. Extraordinary polymorphism at some loci of the major histocompatibility complex (Mhc) rules out the past action of severe bottlenecks, or the so-called founder principle, which invokes only a small number of founding individuals when a new species emerges. This conclusion may be extended to the 35-Myr-old history of the human lineage, because some polymorphism at Mhc loci seems to have lasted that long. Furthermore, although the population structure prior to the late Pleistocene is less clear, owing to the insensitivity of Mhc alleles, even to low levels of migration, the nature of Mhc polymorphism suggests that the effective size of populations leading to humans was as large as 10(5). Hence, the effective population size of humans might have become somewhat smaller in most of the late Pleistocene. The reduction could be due either to the then adverse environment in the Old World and/or to the increased migration rate. It is also argued that population explosion fostered by the agriculture revolution has had significant effects on incorporating new alleles into human populations.

摘要

在人类群体中检测的大多数基因座上的遗传变异表明,在过去100万年里,(有效)种群大小约为10⁴,而且个体在基因上紧密相连。这也表明,即使在单一代际中,种群大小也从未降至少数个体。这些对现代人类起源的假说提出了重要要求:如果种群在地理上是细分的,那么种群大小要相对较大且迁移频繁。任何假设整个晚更新世只有少数奠基个体的假说都可以被排除。主要组织相容性复合体(Mhc)某些基因座上的异常多态性排除了过去严重瓶颈效应的作用,或所谓的奠基者原则,即新物种出现时只涉及少数奠基个体。这一结论可能适用于人类谱系3500万年的历史,因为Mhc基因座上的一些多态性似乎持续了那么久。此外,尽管由于Mhc等位基因对低水平迁移不敏感,晚更新世之前的种群结构不太清楚,但Mhc多态性的性质表明,导致人类出现的种群有效大小高达10⁵。因此,在晚更新世的大部分时间里,人类的有效种群大小可能有所减小。这种减少可能是由于当时旧世界不利的环境和/或迁移率的增加。也有人认为,农业革命促成的人口爆炸对将新等位基因纳入人类种群产生了重大影响。

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