MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.
Genome Res. 2011 Nov;21(11):1777-87. doi: 10.1101/gr.122275.111. Epub 2011 Sep 8.
In this study we investigated the strengths and modes of selection associated with nucleosome positioning in the human lineage through the comparison of interspecies and intraspecies rates of divergence. We identify significant evidence for both positive and negative selection linked to human nucleosome positioning for the first time, implicating a widespread and important role for DNA sequence in the location of well-positioned nucleosomes. Selection appears to be acting on particular base substitutions to maintain optimum GC compositions in core and linker regions, with, e.g., unexpectedly elevated rates of C→T substitutions during recent human evolution at linker regions 60-90 bp from the nucleosome dyad but significant depletion of the same substitutions within nucleosome core regions. These patterns are strikingly consistent with the known relationships between genomic sequence composition and nucleosome assembly. By stratifying nucleosomes according to the GC content of their genomic neighborhood, we also show that the strength and direction of selection detected is dictated by local GC content. Intriguingly these signatures of selection are not restricted to nucleosomes in close proximity to exons, suggesting the correct positioning of nucleosomes is not only important in and around coding regions. This analysis provides strong evidence that the genomic sequences associated with nucleosomes are not evolving neutrally, and suggests that underlying DNA sequence is an important factor in nucleosome positioning. Recent signatures of selection linked to genomic features as ubiquitous as the nucleosome have important implications for human genome evolution and disease.
在这项研究中,我们通过比较种间和种内的分歧率,研究了与人类谱系中核小体定位相关的优势和选择模式。我们首次确定了与人类核小体定位相关的正选择和负选择的显著证据,这表明 DNA 序列在定位位置良好的核小体方面发挥着广泛而重要的作用。选择似乎作用于特定的碱基替换,以维持核心区和连接区的最佳 GC 组成,例如,在核小体二分体附近的连接区 60-90bp 处,最近人类进化过程中 C→T 替换的速率出人意料地升高,但在核小体核心区却明显耗尽了相同的替换。这些模式与基因组序列组成与核小体组装之间的已知关系非常一致。通过根据其基因组邻近区域的 GC 含量对核小体进行分层,我们还表明,检测到的选择强度和方向由局部 GC 含量决定。有趣的是,这些选择的特征不仅限于与外显子紧密相邻的核小体,这表明核小体的正确定位不仅在编码区域中而且在其周围很重要。这项分析为与核小体相关的基因组序列不是在中性进化提供了有力证据,并表明潜在的 DNA 序列是核小体定位的一个重要因素。与核小体一样普遍的基因组特征相关的最近选择的特征对人类基因组进化和疾病具有重要意义。