PDF(Pubmed)
Abstract：
Studies of human sexual dimorphism and gender disparities in health focus on ostensibly universal molecular sex differences, such as sex chromosomes and circulating hormone levels, while ignoring the extraordinary diversity in biology, behavior, and culture acquired by different human populations over their unique evolutionary histories.
Using RNA-Seq data and whole genome sequences from 1000G and HGDP, we investigate variation in sex-biased gene expression across 11 human populations and test whether population-level variation in sex-biased expression may have resulted from adaptive evolution in regions containing sex-specific regulatory variants.
We find that sex-biased gene expression in humans is highly variable, mostly population-specific, and demonstrates between population reversals. Expression quantitative trait locus mapping reveals sex-specific regulatory regions with evidence of recent positive natural selection, suggesting that variation in sex-biased expression may have evolved as an adaptive response to ancestral environments experienced by human populations.
These results indicate that sex-biased gene expression is more flexible than previously thought and is not generally shared among human populations. Instead, molecular phenotypes associated with sex depend on complex interactions between population-specific molecular evolution and physiological responses to contemporary socioecologies.
Using RNA-Seq data and whole genome sequences from 1000G and HGDP, we investigate variation in sex-biased gene expression across 11 human populations and test whether population-level variation in sex-biased expression may have resulted from adaptive evolution in regions containing sex-specific regulatory variants.
We find that sex-biased gene expression in humans is highly variable, mostly population-specific, and demonstrates between population reversals. Expression quantitative trait locus mapping reveals sex-specific regulatory regions with evidence of recent positive natural selection, suggesting that variation in sex-biased expression may have evolved as an adaptive response to ancestral environments experienced by human populations.
These results indicate that sex-biased gene expression is more flexible than previously thought and is not generally shared among human populations. Instead, molecular phenotypes associated with sex depend on complex interactions between population-specific molecular evolution and physiological responses to contemporary socioecologies.
摘要：
目的：人类性二态和健康性别差异的研究集中在表面上普遍的分子性别差异上，如性染色体和循环激素水平，而忽略了生物学中非凡的多样性，行为，以及不同人群在其独特的进化史上获得的文化。
方法：使用来自1000G和HGDP的RNA-Seq数据和全基因组序列，我们调查了11个人群中性别偏倚基因表达的变异,并检验了性别偏倚表达的人群水平变异是否可能是由含有性别特异性调控变异的区域的适应性进化引起的.
结果：我们发现人类性别偏倚的基因表达高度可变，主要是针对特定人群，并在人口逆转之间进行演示。表达数量性状基因座作图揭示了性别特异性调节区域，并有近期积极自然选择的证据，这表明性别偏见表达的变化可能已经进化为对人类祖先环境的适应性反应。
结论：这些结果表明，性别偏倚的基因表达比以前认为的更灵活，并且在人群中通常不共享。相反，与性别相关的分子表型取决于群体特异性分子进化和对当代社会生态学的生理反应之间的复杂相互作用。
方法：使用来自1000G和HGDP的RNA-Seq数据和全基因组序列，我们调查了11个人群中性别偏倚基因表达的变异,并检验了性别偏倚表达的人群水平变异是否可能是由含有性别特异性调控变异的区域的适应性进化引起的.
结果：我们发现人类性别偏倚的基因表达高度可变，主要是针对特定人群，并在人口逆转之间进行演示。表达数量性状基因座作图揭示了性别特异性调节区域，并有近期积极自然选择的证据，这表明性别偏见表达的变化可能已经进化为对人类祖先环境的适应性反应。
结论：这些结果表明，性别偏倚的基因表达比以前认为的更灵活，并且在人群中通常不共享。相反，与性别相关的分子表型取决于群体特异性分子进化和对当代社会生态学的生理反应之间的复杂相互作用。
