Pfeifer Susanne P, Jensen Jeffrey D
School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland
Swiss Institute of Bioinformatics (SIB), Lausanne, Switzerland.
Genome Biol Evol. 2016 Oct 30;8(10):3202-3208. doi: 10.1093/gbe/evw240.
Levels of nucleotide diversity vary greatly across the genomes of most species owing to multiple factors. These include variation in the underlying mutation rates, as well as the effects of both direct and linked selection. Fundamental to interpreting the relative importance of these forces is the common observation of a strong positive correlation between nucleotide diversity and recombination rate. While indeed observed in humans, the interpretation of this pattern has been difficult in the absence of high-quality polymorphism data and recombination maps in closely related species. Here, we characterize genetic features driving nucleotide diversity in Western chimpanzees using a recently generated whole genome polymorphism data set. Our results suggest that recombination rate is the primary predictor of nucleotide variation with a strongly positive correlation. In addition, telomeric distance, regional GC-content, and regional CpG-island content are strongly negatively correlated with variation. These results are compared with humans, with both similarities and differences interpreted in the light of the estimated effective population sizes of the two species as well as their strongly differing recent demographic histories.
由于多种因素,大多数物种基因组中的核苷酸多样性水平差异很大。这些因素包括潜在突变率的变化,以及直接选择和连锁选择的影响。解释这些力量相对重要性的基础是普遍观察到核苷酸多样性与重组率之间存在强烈的正相关。虽然在人类中确实观察到了这种模式,但在缺乏密切相关物种的高质量多态性数据和重组图谱的情况下,对这种模式的解释一直很困难。在这里,我们使用最近生成的全基因组多态性数据集来表征驱动西部黑猩猩核苷酸多样性的遗传特征。我们的结果表明,重组率是核苷酸变异的主要预测因子,两者呈强烈正相关。此外,端粒距离、区域GC含量和区域CpG岛含量与变异呈强烈负相关。我们将这些结果与人类进行了比较,并根据两种物种估计的有效种群大小以及它们截然不同的近期种群历史来解释异同之处。