Institute of Plant Sciences, University of Bern, Bern, Switzerland.
WSL Swiss Federal Research Institute, Birmensdorf, Switzerland.
Mol Ecol. 2019 Mar;28(6):1550-1562. doi: 10.1111/mec.15014.
Recombination and selection drive the extent of linkage disequilibrium (LD) among loci and therefore affect the reshuffling of adaptive genetic variation. However, it is poorly known to what extent the enrichment of transposable elements (TEs) in recombinationally-inert regions reflects their inefficient removal by purifying selection and whether the presence of polymorphic TEs can modify the local recombination rate. In this study, we investigate how TEs and recombination interact at fine scale along chromosomes and possibly support linked selection in natural populations. Whole-genome sequencing data of 304 individuals from nearby alpine populations of Arabis alpina were used to show that the density of polymorphic TEs is specifically correlated with local LD along chromosomes. Consistent with TEs modifying recombination, the characterization of 28 such LD blocks of up to 5.5 Mb in length revealed strong evidence of selective sweeps at a few loci through either site frequency spectrum or haplotype structure. A majority of these blocks were enriched in genes related to ecologically relevant functions such as responses to cold, salt stress or photoperiodism. In particular, the S-locus (i.e., supergene responsible for strict outcrossing) was identified in a LD block with high levels of polymorphic TEs and evidence of selection. Another such LD block was enriched in cold-responding genes and presented evidence of adaptive loci related to photoperiodism and flowering being increasingly linked by polymorphic TEs. These results are consistent with the hypothesis that TEs modify recombination landscapes and thus interact with selection in driving blocks of linked adaptive loci in natural populations.
重组和选择驱动了基因座间连锁不平衡(LD)的程度,从而影响了适应性遗传变异的重新洗牌。然而,重组非活跃区中转座元件(TEs)的富集在多大程度上反映了它们被纯化选择的低效去除,以及多态 TE 的存在是否能改变局部重组率,这些问题知之甚少。在这项研究中,我们调查了 TEs 和重组在自然种群中如何在精细尺度上相互作用,并可能支持连锁选择。使用来自高山地区近缘种拟南芥 304 个个体的全基因组测序数据,表明多态 TE 的密度与染色体上的局部 LD 特异性相关。与 TE 改变重组一致的是,对 28 个长达 5.5Mb 的此类 LD 块的特征分析表明,在少数几个位点上,通过座位频率谱或单倍型结构,存在选择清除的强烈证据。这些块中的大多数富集了与生态相关功能相关的基因,如对寒冷、盐胁迫或光周期的反应。特别是,在一个 LD 块中发现了 S 基因座(即负责严格异交的超基因),该基因座含有高水平的多态 TE 和选择的证据。另一个 LD 块富含冷响应基因,并呈现出与光周期和开花相关的适应性基因座的证据,这些基因座由于多态 TE 而越来越多地连接在一起。这些结果与 TE 改变重组景观并因此与选择相互作用,驱动自然种群中连锁适应性基因座的假说一致。