WSL Swiss Federal Research Institute, Birmensdorf, Switzerland.
University of Neuchâtel, Neuchâtel, Switzerland.
Mol Ecol Resour. 2019 May;19(3):773-787. doi: 10.1111/1755-0998.12991.
Advances in high-throughput sequencing have promoted the collection of reference genomes and genome-wide diversity. However, the assessment of genomic variation among populations has hitherto mainly been surveyed through single-nucleotide polymorphisms (SNPs) and largely ignored the often major fraction of genomes represented by transposable elements (TEs). Despite accumulating evidence supporting the evolutionary significance of TEs, comprehensive surveys remain scarce. Here, we sequenced the full genomes of 304 individuals of Arabis alpina sampled from four nearby natural populations to genotype SNPs as well as polymorphic long terminal repeat retrotransposons (polymorphic TEs; i.e., presence/absence of TE insertions at specific loci). We identified 291,396 SNPs and 20,548 polymorphic TEs, comparing their contributions to genomic diversity and divergence across populations. Few SNPs were shared among populations and overall showed high population-specific variation, whereas most polymorphic TEs segregated among populations. The genomic context of these two classes of variants further highlighted candidate adaptive loci having a putative impact on functional genes. In particular, 4.96% of the SNPs were identified as nonsynonymous or affecting start/stop codons. In contrast, 43% of the polymorphic TEs were present next to Arabis genes enriched in functional categories related to the regulation of reproduction and responses to biotic as well as abiotic stresses. This unprecedented data set, mapping variation gained from SNPs and complementary polymorphic TEs within and among populations, will serve as a rich resource for addressing microevolutionary processes shaping genome variation.
高通量测序技术的进步促进了参考基因组和全基因组多样性的收集。然而,迄今为止,对种群基因组变异的评估主要是通过单核苷酸多态性 (SNP) 进行调查,而很大程度上忽略了转座元件 (TE) 所代表的基因组的重要部分。尽管越来越多的证据支持 TE 的进化意义,但全面调查仍然很少。在这里,我们对 304 个来自四个近缘自然种群的高山报春基因组进行了全基因组测序,以对 SNP 以及多态性长末端重复反转录转座子 (多态性 TE;即特定基因座上 TE 插入的存在/缺失) 进行基因分型。我们鉴定了 291396 个 SNP 和 20548 个多态性 TE,并比较了它们对种群间基因组多样性和分化的贡献。很少有 SNP 在种群之间共享,总体表现出高度的种群特异性变异,而大多数多态性 TE 在种群之间分离。这两类变体的基因组背景进一步突出了候选适应性基因座,这些基因座可能对功能基因有潜在影响。特别是,4.96%的 SNP 被鉴定为非同义或影响起始/终止密码子。相比之下,43%的多态性 TE 位于富含与生殖调控以及生物和非生物胁迫反应相关的功能类别基因的附近。这个前所未有的数据集,对 SNP 和互补多态性 TE 在种群内和种群间获得的变异进行了映射,将成为解决塑造基因组变异的微进化过程的丰富资源。