Kollar Leslie M, Stanley Lauren E, Kenchanmane Raju Sunil K, Lowry David B, Niederhuth Chad E
Department of Plant Biology, Michigan State University, East Lansing, Michigan, USA.
Plant Resilience Institute, Michigan State University, East Lansing, Michigan, USA.
Mol Ecol. 2025 Mar 5:e17708. doi: 10.1111/mec.17708.
Chromosomal inversion polymorphisms are ubiquitous across the diversity of diploid organisms and play a significant role in the evolution of adaptations in those species. Inversions are thought to operate as supergenes by trapping adaptive alleles at multiple linked loci through the suppression of recombination. While there is now considerable support for the supergene mechanism of inversion evolution, the extent to which inversions trap pre-existing adaptive genetic variation versus accumulate new adaptive variants over time remains unclear. In this study, we report new insights into the evolution of a locally adaptive chromosomal inversion polymorphism (inv_chr8A), which contributes to the adaptive divergence between coastal perennial and inland annual ecotypes of the yellow monkeyflower, Mimulus guttatus. This research was enabled by the sequencing, assembly and annotation of new annual and perennial genomes of M. guttatus using Oxford Nanopore long-read sequencing technology. In addition to the adaptive inv_chr8A inversion, we identified three other large inversion polymorphisms, including a previously unknown large inversion (inv_chr8B) nested within inv_chr8A. Through population genomic analyses, we determined that the nested inv_chr8B inversion is significantly older than the larger chromosomal inversion in which it resides. We also evaluated the potential role of key candidate genes underlying the phenotypic effects of inv_chr8A. These genes are involved in gibberellin biosynthesis and anthocyanin regulation. Although little evidence was found to suggest that inversion breakpoint mutations drive adaptive phenotypic effects, our findings do support the supergene mechanism of adaptation and suggest it may sometimes involve nested inversions that evolve at different times.
染色体倒位多态性在二倍体生物的多样性中普遍存在,并在这些物种的适应性进化中发挥着重要作用。倒位被认为通过抑制重组在多个连锁位点捕获适应性等位基因,从而作为超基因发挥作用。虽然现在对倒位进化的超基因机制有相当多的支持,但倒位在多大程度上捕获预先存在的适应性遗传变异,以及随着时间的推移积累新的适应性变异,仍然不清楚。在这项研究中,我们报告了对一种局部适应性染色体倒位多态性(inv_chr8A)进化的新见解,这种多态性导致了黄花猴面花(Mimulus guttatus)沿海多年生和内陆一年生生态型之间的适应性分化。这项研究是通过使用牛津纳米孔长读测序技术对M. guttatus的新一年生和多年生基因组进行测序、组装和注释来实现的。除了适应性的inv_chr8A倒位,我们还鉴定出另外三种大的倒位多态性,包括一个嵌套在inv_chr8A内的先前未知的大倒位(inv_chr8B)。通过群体基因组分析,我们确定嵌套的inv_chr8B倒位比它所在的更大的染色体倒位要古老得多。我们还评估了inv_chr8A表型效应潜在关键候选基因的作用。这些基因参与赤霉素生物合成和花青素调控。虽然几乎没有证据表明倒位断点突变驱动适应性表型效应,但我们的发现确实支持适应性的超基因机制,并表明它有时可能涉及在不同时间进化的嵌套倒位。