Nowell Reuben W, Charlesworth Brian, Haddrill Penelope R
Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, UK.
Genet Res (Camb). 2011 Aug;93(4):255-63. doi: 10.1017/S0016672311000206. Epub 2011 Jul 18.
Ancestral polymorphisms are defined as variants that arose by mutation prior to the speciation event that generated the species in which they segregate. Their presence may complicate the interpretation of molecular data and lead to incorrect phylogenetic inferences. They may also be used to identify regions of the genome that are under balancing selection. It is thus important to take into account the contribution of ancestral polymorphisms to variability within species and divergence between species. Here, we extend and improve a method for estimation of the proportion of ancestral polymorphisms within a species, and apply it to a dataset of 33 X-linked and 34 autosomal protein-coding genes for which sequence polymorphism data are available in both Drosophila pseudoobscura and Drosophila miranda, using Drosophila affinis as an outgroup. We show that a substantial proportion of both X-linked and autosomal synonymous variants in these two species are ancestral, and that a small number of additional genes with unusually high sequence diversity seem to have an excess of ancestral polymorphisms, suggestive of balancing selection.
祖先多态性被定义为在产生它们所分离物种的物种形成事件之前通过突变产生的变体。它们的存在可能会使分子数据的解释复杂化,并导致错误的系统发育推断。它们还可用于识别处于平衡选择之下的基因组区域。因此,考虑祖先多态性对物种内变异性和物种间差异的贡献非常重要。在这里,我们扩展并改进了一种估计物种内祖先多态性比例的方法,并将其应用于一个数据集,该数据集包含33个X连锁和34个常染色体蛋白质编码基因,对于这些基因,在拟暗果蝇和米兰达果蝇中都有序列多态性数据,以亲缘果蝇作为外类群。我们表明,这两个物种中相当一部分X连锁和常染色体同义变体是祖先的,并且少数具有异常高序列多样性的其他基因似乎有过量的祖先多态性,这表明存在平衡选择。