Samano Alejandra, Kumar Naveen, Liao Yi, Ishtiaq Farah, Chakraborty Mahul
Department of Biology, Texas A&M University, College Station, TX, USA.
Department of Vector Control, Environmental Surveillance and Disease Ecology, Tata Institute for Genetics and Society, Bengaluru 560065, India.
Mol Biol Evol. 2025 Jun 4;42(6). doi: 10.1093/molbev/msaf140.
Global changes are associated with the emergence of several invasive species, although genetic determinants of their adaptive success remain poorly understood. To address this problem, we investigated the role genome structural variants (SVs) play in adaptations of Anopheles stephensi, a primary vector of urban malaria in South Asia and an invasive malaria vector in South Asian islands and Africa. Using whole genome sequencing data, we identified 2,988 duplications and 16,038 deletions of SVs in 115 mosquitoes from invasive island populations and four locations from mainland India, the species' ancestral range. The minor allele frequency of SVs and amino acid polymorphism suggests SVs are more deleterious than the amino acid variants. However, high-frequency SVs are enriched in genomic regions with signatures of selective sweeps, implying a putative adaptive role of some SVs. We revealed three novel candidate duplication mutations for recurrent evolution of resistance to diverse insecticides in An. stephensi populations. These mutations exhibit distinct population genetic signatures of recent adaptive evolution, suggesting different mechanisms of rapid adaptations involving hard and soft sweeps helping the species thwart chemical control strategies. We also identify candidate SVs for the larval tolerance to brackish water, which is likely an adaptation in island and coastal populations. Nearly all high-frequency SVs and the candidate adaptive variants in the island populations are derived from the mainland, suggesting a sizable contribution of existing variation to the success of the island populations. Our results highlight the important role of SVs in the evolutionary success of invasive malaria vector An. stephensi.
全球变化与多种入侵物种的出现有关,尽管对其适应性成功的遗传决定因素仍知之甚少。为了解决这个问题,我们研究了基因组结构变异(SVs)在斯氏按蚊适应过程中所起的作用。斯氏按蚊是南亚城市疟疾的主要传播媒介,也是南亚岛屿和非洲的入侵性疟疾传播媒介。利用全基因组测序数据,我们在来自入侵岛屿种群的115只蚊子以及该物种的起源地——印度大陆的四个地点中,鉴定出了2988个SVs重复和16038个SVs缺失。SVs的次要等位基因频率和氨基酸多态性表明,SVs比氨基酸变异更具有害性。然而,高频SVs在具有选择性清除特征的基因组区域中富集,这意味着一些SVs具有假定的适应性作用。我们发现了三个新的候选重复突变,它们与斯氏按蚊种群对多种杀虫剂抗性的反复进化有关。这些突变表现出近期适应性进化独特的群体遗传特征,表明涉及硬清除和软清除的不同快速适应机制有助于该物种挫败化学防治策略。我们还确定了幼虫对微咸水耐受性的候选SVs,这可能是岛屿和沿海种群的一种适应。岛屿种群中几乎所有高频SVs和候选适应性变异都源自大陆,这表明现有变异对岛屿种群的成功有相当大的贡献。我们的结果突出了SVs在入侵性疟疾媒介斯氏按蚊进化成功中的重要作用。