Population Demographic History Can Cause the Appearance of Recombination Hotspots
Population Demographic History Can Cause the Appearance of Recombination Hotspots
复制标题
DOI：
10.1016/j.ajhg.2012.03.011
复制
发表时间：
2012-05-04
影响因子：
9.8
通讯作者：
Cutler, David J.
中科院分区：
文献类型：
--
作者：
Johnston, Henry R.;Cutler, David J.
尽管遗传学家的主流观点认为重组热点在人类基因组中无处不在，但只有来自少数基因组区域的有限实验证据支持这一说法的普遍性。少数真正的重组热点在实验上得到了很好的支持，但绝大多数热点都是基于从人类群体中看到的连锁不平衡（LD）模式的群体遗传推断而确定的。这些推论是在一个特定的人类历史模型的假设下做出的，这个模型的一个假设是，人类的有效人口规模在我们的历史上一直保持不变。我们的研究结果表明，放宽恒定种群规模的假设，可以创造出与人类种群在质量和数量上相似的LD和变异模式，而无需调用局部重组热点。换句话说，明显的重组热点可能是随时间变化的种群规模的人工产物。几条证据线表明，根据LD信息确定的绝大多数热点不太可能有较高的重组率。
Although the prevailing view among geneticists suggests that recombination hotspots exist ubiquitously across the human genome, there is only limited experimental evidence from a few genomic regions to support the generality of this claim. A small number of true recombination hotspots are well supported experimentally, but the vast majority of hotspots have been identified on the basis of population genetic inferences from the patterns of linkage disequilibrium (LD) seen in the human population. These inferences are made assuming a particular model of human history, and one of the assumptions of that model is that the effective population size of humans has remained constant throughout our history. Our results show that relaxation of the constant population size assumption can create LD and variation patterns that are qualitatively and quantitatively similar to human populations without any need to invoke localized hotspots of recombination. In other words, apparent recombination hotspots could be an artifact of variable population size over time. Several lines of evidence suggest that the vast majority of hotspots identified on the basis of LD information are unlikely to have elevated recombination rates.