Lecomte Laurie, Árnyasi Mariann, Ferchaud Anne-Laure, Kent Matthew, Lien Sigbjørn, Stenløkk Kristina, Sylvestre Florent, Bernatchez Louis, Mérot Claire
Institut de Biologie Intégrative et des Systèmes (IBIS) Université Laval Québec Canada.
Département de Biologie Université Laval Québec Canada.
Evol Appl. 2024 Mar 14;17(3):e13653. doi: 10.1111/eva.13653. eCollection 2024 Mar.
Genomic structural variants (SVs) are now recognized as an integral component of intraspecific polymorphism and are known to contribute to evolutionary processes in various organisms. However, they are inherently difficult to detect and genotype from readily available short-read sequencing data, and therefore remain poorly documented in wild populations. Salmonid species displaying strong interpopulation variability in both life history traits and habitat characteristics, such as Atlantic salmon (), offer a prime context for studying adaptive polymorphism, but the contribution of SVs to fine-scale local adaptation has yet to be explored. Here, we performed a comparative analysis of SVs, single nucleotide polymorphisms (SNPs) and small indels (<50 bp) segregating in the Romaine and Puyjalon salmon, two putatively locally adapted populations inhabiting neighboring rivers (Québec, Canada) and showing pronounced variation in life history traits, namely growth, fecundity, and age at maturity and smoltification. We first catalogued polymorphism using a hybrid SV characterization approach pairing both short- (16X) and long-read sequencing (20X) for variant discovery with graph-based genotyping of SVs across 60 salmon genomes, along with characterization of SNPs and small indels from short reads. We thus identified 115,907 SVs, 8,777,832 SNPs and 1,089,321 short indels, with SVs covering 4.8 times more base pairs than SNPs. All three variant types revealed a highly congruent population structure and similar patterns of and density variation along the genome. Finally, we performed outlier detection and redundancy analysis (RDA) to identify variants of interest in the putative local adaptation of Romaine and Puyjalon salmon. Genes located near these variants were enriched for biological processes related to nervous system function, suggesting that observed variation in traits such as age at smoltification could arise from differences in neural development. This study therefore demonstrates the feasibility of large-scale SV characterization and highlights its relevance for salmonid population genomics.
基因组结构变异(SVs)如今被视为种内多态性的一个重要组成部分,并且已知其在各种生物体的进化过程中发挥作用。然而,从现有的短读长测序数据中检测和对其进行基因分型本身就很困难,因此在野生种群中的记录仍然很少。鲑科物种在生活史特征和栖息地特征方面表现出强烈的种群间变异性,例如大西洋鲑,为研究适应性多态性提供了一个理想的背景,但SVs对精细尺度局部适应性的贡献尚未得到探索。在这里,我们对罗芒和皮雅隆鲑中的SVs、单核苷酸多态性(SNPs)和小插入缺失(<50bp)进行了比较分析,这两个被认为是局部适应的种群栖息在相邻的河流(加拿大魁北克),并且在生活史特征方面表现出明显的变异,即生长、繁殖力以及成熟和降海洄游的年龄。我们首先使用一种混合SV表征方法对多态性进行编目,该方法将短读长(16X)和长读长测序(20X)配对用于变异发现,并对60个鲑鱼基因组中的SVs进行基于图谱的基因分型,同时从短读长中表征SNPs和小插入缺失。我们由此鉴定出115,907个SVs、8,777,832个SNPs和1,089,321个小插入缺失,SVs覆盖的碱基对比SNPs多4.8倍。所有这三种变异类型都揭示了高度一致的种群结构以及沿基因组的相似的变异和密度变化模式。最后,我们进行了异常值检测和冗余分析(RDA),以确定罗芒和皮雅隆鲑假定局部适应中感兴趣的变异。位于这些变异附近的基因在与神经系统功能相关的生物学过程中富集,这表明观察到的诸如降海洄游年龄等性状的变异可能源于神经发育的差异。因此,这项研究证明了大规模SV表征的可行性,并突出了其在鲑科种群基因组学中的相关性。