Department of Genome Sciences, University of Washington, Seattle, 98195, USA.
Am J Hum Genet. 2010 Dec 10;87(6):848-56. doi: 10.1016/j.ajhg.2010.10.021. Epub 2010 Nov 25.
Determining historical sex ratios throughout human evolution can provide insight into patterns of genomic variation, the structure and composition of ancient populations, and the cultural factors that influence the sex ratio (e.g., sex-specific migration rates). Although numerous studies have suggested that unequal sex ratios have existed in human evolutionary history, a coherent picture of sex-biased processes has yet to emerge. For example, two recent studies compared human X chromosome to autosomal variation to make inferences about historical sex ratios but reached seemingly contradictory conclusions, with one study finding evidence for a male bias and the other study identifying a female bias. Here, we show that a large part of this discrepancy can be explained by methodological differences. Specifically, through reanalysis of empirical data, derivation of explicit analytical formulae, and extensive simulations we demonstrate that two estimators of the effective sex ratio based on population structure and nucleotide diversity preferentially detect biases that have occurred on different timescales. Our results clarify apparently contradictory evidence on the role of sex-biased processes in human evolutionary history and show that extant patterns of human genomic variation are consistent with both a recent male bias and an earlier, persistent female bias.
确定人类进化过程中的历史性别比例可以深入了解基因组变异模式、古代人口的结构和组成,以及影响性别比例的文化因素(例如,性别特定的迁移率)。尽管许多研究表明,人类进化史上存在着不平等的性别比例,但仍未形成一个连贯的性别偏向过程的图景。例如,最近的两项研究比较了人类 X 染色体和常染色体的变异,以推断历史性别比例,但得出了看似矛盾的结论,一项研究发现存在男性偏向的证据,而另一项研究则确定了女性偏向的证据。在这里,我们表明,这种差异的很大一部分可以用方法学上的差异来解释。具体来说,通过对经验数据的重新分析、显式解析公式的推导和广泛的模拟,我们证明了两种基于群体结构和核苷酸多样性的有效性别比例估计值优先检测到在不同时间尺度上发生的偏差。我们的研究结果澄清了人类进化史上性别偏向过程作用的明显矛盾的证据,并表明人类基因组变异的现存模式与近期的男性偏向和更早的、持续的女性偏向一致。