Kapun Martin, van Schalkwyk Hester, McAllister Bryant, Flatt Thomas, Schlötterer Christian
Institut für Populationsgenetik, Vetmeduni Vienna, Veterinärplatz 1, Vienna, A-1210, Austria; Vienna graduate school of Population Genetics, Iowa City, IA, 52242, USA.
Mol Ecol. 2014 Apr;23(7):1813-27. doi: 10.1111/mec.12594. Epub 2013 Dec 20.
Sequencing of pools of individuals (Pool-Seq) represents a reliable and cost-effective approach for estimating genome-wide SNP and transposable element insertion frequencies. However, Pool-Seq does not provide direct information on haplotypes so that, for example, obtaining inversion frequencies has not been possible until now. Here, we have developed a new set of diagnostic marker SNPs for seven cosmopolitan inversions in Drosophila melanogaster that can be used to infer inversion frequencies from Pool-Seq data. We applied our novel marker set to Pool-Seq data from an experimental evolution study and from North American and Australian latitudinal clines. In the experimental evolution data, we find evidence that positive selection has driven the frequencies of In(3R)C and In(3R)Mo to increase over time. In the clinal data, we confirm the existence of frequency clines for In(2L)t, In(3L)P and In(3R)Payne in both North America and Australia and detect a previously unknown latitudinal cline for In(3R)Mo in North America. The inversion markers developed here provide a versatile and robust tool for characterizing inversion frequencies and their dynamics in Pool-Seq data from diverse D. melanogaster populations.
对个体样本池进行测序(Pool-Seq)是一种可靠且经济高效的方法,用于估计全基因组单核苷酸多态性(SNP)和转座元件插入频率。然而,Pool-Seq无法提供关于单倍型的直接信息,因此,例如,到目前为止还无法获得倒位频率。在这里,我们针对黑腹果蝇的七种常见倒位开发了一组新的诊断性标记SNP,可用于从Pool-Seq数据推断倒位频率。我们将我们的新型标记集应用于来自一项实验进化研究以及北美和澳大利亚纬度渐变群的Pool-Seq数据。在实验进化数据中,我们发现有证据表明正选择推动了In(3R)C和In(3R)Mo的频率随时间增加。在渐变群数据中,我们证实了In(2L)t、In(3L)P和In(3R)Payne在北美和澳大利亚都存在频率渐变,并在北美检测到了In(3R)Mo一个以前未知的纬度渐变群。这里开发的倒位标记为表征来自不同黑腹果蝇种群的Pool-Seq数据中的倒位频率及其动态提供了一种通用且强大的工具。