与类人猿X染色体扩增子区域相关的强选择性扫描
Strong selective sweeps associated with ampliconic regions in great ape X chromosomes
摘要：
X染色体独特的遗传模式使它们成为适应性进化的优先目标。我们在这里研究了所有类人猿X染色体上的自然选择。我们发现，与常染色体相比，X上的基因周围的多样性更强烈地减少，并且更高比例的置换来自正选择。引人注目的是，X显示出几个兆长的区域，其中多样性减少了五倍以上。这些区域在物种间重叠显著，并且具有较高的单细胞比例、种群分化和非同义与同义替换比率。我们排除背景选择和软选择性扫描作为这些观察结果的解释，并得出结论，几个强选择性扫描独立地发生在几个物种的相似区域。由于这些区域与扩增子序列密切相关，我们认为X和Y染色体之间的基因组内冲突是X染色体进化的主要驱动力。
英文摘要：
The unique inheritance pattern of X chromosomes makes them preferential targets of adaptive evolution. We here investigate natural selection on the X chromosome in all species of great apes. We find that diversity is more strongly reduced around genes on the X compared with autosomes, and that a higher proportion of substitutions results from positive selection. Strikingly, the X exhibits several megabase long regions where diversity is reduced more than five fold. These regions overlap significantly among species, and have a higher singleton proportion, population differentiation, and nonsynonymous to synonymous substitution ratio. We rule out background selection and soft selective sweeps as explanations for these observations, and conclude that several strong selective sweeps have occurred independently in similar regions in several species. Since these regions are strongly associated with ampliconic sequences we propose that intra-genomic conflict between the X and the Y chromosomes is a major driver of X chromosome evolution.
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