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三刺鱼海洋种群中广泛存在的遗传变异的全基因组模式。

Genome-wide patterns of standing genetic variation in a marine population of three-spined sticklebacks.

机构信息

Institute for Evolution and Biodiversity, Evolutionary Bioinformatics, Westfaelische Wilhelms University, Muenster, Germany.

出版信息

Mol Ecol. 2013 Feb;22(3):635-49. doi: 10.1111/j.1365-294X.2012.05680.x. Epub 2012 Jul 3.

Abstract

Since the end of the Pleistocene, the three-spined stickleback (Gasterosteus aculeatus) has repeatedly colonized and adapted to various freshwater habitats probably originating from ancestral marine populations. Standing genetic variation and the underlying genomic architecture both have been speculated to contribute to recent adaptive radiations of sticklebacks. Here, we expand on the current genomic resources of this fish by providing extensive genome-wide variation data from six individuals from a marine (North Sea) stickleback population. Using next-generation sequencing and a combination of paired-end and mate-pair libraries, we detected a wide size range of genetic variation. Among the six individuals, we found more than 7% of the genome is polymorphic, consisting of 2599111 SNPs, 233464 indels and structural variation (SV) (>50 bp) such as 1054 copy-number variable regions (deletions and duplications) and 48 inversions. Many of these polymorphisms affect gene and coding sequences. Based on SNP diversity, we determined outlier regions concordant with signatures expected under adaptive evolution. As some of these outliers overlap with pronounced regions of copy-number variation, we propose the consideration of such SV when analysing SNP data from re-sequencing approaches. We further discuss the value of this resource on genome-wide variation for further investigation upon the relative contribution of standing variation on the parallel evolution of sticklebacks and the importance of the genomic architecture in adaptive radiation.

摘要

自更新世末期以来,三刺鱼(Gasterosteus aculeatus)已多次从原始的海洋种群中殖民并适应各种淡水栖息地。人们推测,遗传变异和潜在的基因组结构都有助于刺鱼的近期适应性辐射。在这里,我们通过提供来自北海刺鱼种群的六个个体的广泛的全基因组变异数据,扩展了这种鱼类的现有基因组资源。使用下一代测序技术和末端配对文库和 mate-pair 文库的组合,我们检测到了广泛的遗传变异范围。在这六个个体中,我们发现超过 7%的基因组是多态的,包括 2599111 个 SNPs、233464 个插入和缺失以及结构变异(SV)(>50 bp),如 1054 个拷贝数可变区(缺失和重复)和 48 个倒位。这些多态性中的许多都影响基因和编码序列。基于 SNP 多样性,我们确定了与适应性进化预期的特征一致的外显子区域。由于一些外显子与拷贝数变异的明显区域重叠,因此在分析重测序方法的 SNP 数据时,我们建议考虑此类 SV。我们还讨论了这种资源在全基因组变异方面的价值,以便进一步研究刺鱼平行进化中遗传变异的相对贡献,以及基因组结构在适应性辐射中的重要性。

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