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Estimating Neandertal contribution to the Upper Paleolithic H. sapiens gene pool using genetic drift effect in branching process model

机译:利用分支过程模型中的遗传漂移效应估算尼安德特人对上古石器时代人类基因库的贡献

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Abstract: - In the paper, there is considered the effect of the genetic drift, which could eliminate the hypothetical Neandertal mtDNA admixture from the Upper Paleolithic gene pool of anatomically modern humans. To model the demography, the slightly supercritical Markov's branching process (BP) based on the O'Connell model has been proposed. Relying on relatively fast convergence to the O'Connell's limiting properties it is possible to estimate the time of extinction of the Neandertals relatively to the time of the root of the mtDNA polymorphism of modern humans. The results of the study indicate that the maximum hypothetical contribution of Neandertal mtDNA which could be eliminated by the genetic drift at 0.05 significance level is about 12% for studying mtDNA record only. However, the expected value of the admixture, estimated to be about 3.9 % based on mtDNA record only, is reduced to around 2.3 % if additional nuclear genome data is utilized for Bayesian inference. Relevance of the paper lies in treating mtDNA-based studies as complementary approaches to those based on nuclear DNA sequenced by the Neandertal genome project.
机译:摘要:-在本文中,考虑了遗传漂移的影响,它可以消除解剖学现代人类上古石器时代基因库中假想的尼安德特人线粒体DNA混合物。为了对人口统计学建模,已经提出了基于O'Connell模型的稍微超临界的马尔可夫分支过程(BP)。依靠相对快速地收敛到O'Connell的限制特性,可以估计尼安德特人的灭绝时间相对于现代人类mtDNA多态性根源的时间。研究结果表明,仅在研究mtDNA记录时,尼安德特人mtDNA的最大假设贡献可被0.05显着性水平的遗传漂移所消除。但是,如果将其他核基因组数据用于贝叶斯推断,则仅基于mtDNA记录,混合物的预期值估计约为3.9%,但将降低至2.3%左右。本文的相关性在于将基于mtDNA的研究作为对尼安德特人基因组计划测序的基于核DNA的研究的补充方法。

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