Ravagni Sara, Montero-Mendieta Santiago, Leonard Jennifer A, Webster Matthew T, Christmas Matthew J, Bunikis Ignas, Rodríguez-Teijeiro José Domingo, Sanchez-Donoso Ines, Vilà Carles
Conservation and Evolutionary Genetics Group, Doñana Biological Station (EBD-CSIC), Seville, Spain.
Department of Biology and Biotechnologies "Charles Darwin", University of Rome La Sapienza, Rome, Italy.
Mol Ecol. 2025 May;34(9):e17740. doi: 10.1111/mec.17740. Epub 2025 Apr 4.
Chromosomal inversions, by suppressing recombination, can profoundly shape genome evolution and drive adaptation. In the common quail (Coturnix coturnix), a highly mobile bird with a vast Palearctic breeding range, we previously identified a massive inversion on chromosome 1 associated with distinct phenotypes and restricted geographic distribution. Here, using a new de novo genome assembly, we characterise this inversion and uncover additional, ancient structural variation on chromosome 2 that segregates across the species' range: either two putatively linked inversions or a single, large inversion that appears as two due to scaffolding limitations. Together, the inversions encompass a remarkable 15.6% of the quail genome (153.6 Mbp), creating highly divergent haplotypes that diverged over a million years ago. While the chromosome 1 inversion is linked to phenotypic differences, including morphology and migratory behaviour, the chromosome 2 inversion(s) show no such association. Notably, all inversion regions exhibit reduced effective population size and a relaxation of purifying selection, evidenced by elevated nonsynonymous-to-synonymous substitution ratios (N/S). This suggests that inversions, particularly the geographically restricted one on chromosome 1, may act as engines of diversification, accelerating the accumulation of functional variation and potentially contributing to local adaptation, especially within isolated island populations. Our findings demonstrate how large-scale chromosomal rearrangements can compartmentalise a genome, fostering distinct evolutionary trajectories within a single, highly mobile species.
染色体倒位通过抑制重组,能够深刻地塑造基因组进化并推动适应性变化。在普通鹌鹑(Coturnix coturnix)中,这是一种具有广泛古北界繁殖范围的高度迁徙性鸟类,我们之前在1号染色体上鉴定出一个与不同表型和受限地理分布相关的大规模倒位。在此,我们利用新的从头基因组组装技术,对这个倒位进行了特征描述,并发现了2号染色体上额外的古老结构变异,这种变异在整个物种分布范围内存在分离现象:要么是两个假定连锁的倒位,要么是由于支架限制而看似两个的单个大倒位。这些倒位总共涵盖了鹌鹑基因组的15.6%(153.6兆碱基对),形成了在一百多万年前就已分化的高度不同的单倍型。虽然1号染色体倒位与包括形态和迁徙行为在内的表型差异相关,但2号染色体倒位则没有这种关联。值得注意的是,所有倒位区域的有效种群大小都有所减小,并且纯化选择有所放松,这通过非同义替换与同义替换比率(N/S)的升高得以证明。这表明倒位,特别是1号染色体上地理分布受限者,可能充当多样化的引擎,加速功能变异的积累,并可能有助于局部适应,尤其是在孤立的岛屿种群中。我们的研究结果表明大规模染色体重排如何能够对基因组进行分区,在一个单一的高度迁徙物种内促进不同的进化轨迹。