Ferguson Scott, Jones Ashley, Murray Kevin, Andrew Rose L, Schwessinger Benjamin, Bothwell Helen, Borevitz Justin
Research School of Biology, Australian National University, Canberra, Australian Capital Territory, 2600 Australia.
Department of Molecular Biology, Max Planck Institute for Biology Tübingen, Tübingen, 72076 Germany.
Gigascience. 2024 Jan 2;13. doi: 10.1093/gigascience/giae029.
Structural variations (SVs) play a significant role in speciation and adaptation in many species, yet few studies have explored the prevalence and impact of different categories of SVs. We conducted a comparative analysis of long-read assembled reference genomes of closely related Eucalyptus species to identify candidate SVs potentially influencing speciation and adaptation. Interspecies SVs can be either fixed differences or polymorphic in one or both species. To describe SV patterns, we employed short-read whole-genome sequencing on over 600 individuals of Eucalyptus melliodora and Eucalyptus sideroxylon, along with recent high-quality genome assemblies. We aligned reads and genotyped interspecies SVs predicted between species reference genomes. Our results revealed that 49,756 of 58,025 and 39,536 of 47,064 interspecies SVs could be typed with short reads in E. melliodora and E. sideroxylon, respectively. Focusing on inversions and translocations, symmetric SVs that are readily genotyped within both populations, 24 were found to be structural divergences, 2,623 structural polymorphisms, and 928 shared structural polymorphisms. We assessed the functional significance of fixed interspecies SVs by examining differences in estimated recombination rates and genetic differentiation between species, revealing a complex history of natural selection. Shared structural polymorphisms displayed enrichment of potentially adaptive genes. Understanding how different classes of genetic mutations contribute to genetic diversity and reproductive barriers is essential for understanding how organisms enhance fitness, adapt to changing environments, and diversify. Our findings reveal the prevalence of interspecies SVs and elucidate their role in genetic differentiation, adaptive evolution, and species divergence within and between populations.
结构变异(SVs)在许多物种的物种形成和适应性方面发挥着重要作用,但很少有研究探讨不同类型SVs的普遍性和影响。我们对亲缘关系密切的桉树种的长读长组装参考基因组进行了比较分析,以识别可能影响物种形成和适应性的候选SVs。种间SVs可以是固定差异,也可以在一个或两个物种中呈多态性。为了描述SV模式,我们对600多个蜜味桉和铁桉个体进行了短读长全基因组测序,并结合了最近的高质量基因组组装。我们对 reads 进行了比对,并对物种参考基因组之间预测的种间SVs进行了基因分型。我们的结果显示,在蜜味桉和铁桉中,分别有58,025个种间SVs中的49,756个和47,064个种间SVs中的39,536个可以用短 reads 进行分型。聚焦于倒位和易位,即在两个群体中都易于进行基因分型的对称SVs,发现有24个是结构差异,2,623个是结构多态性,928个是共享结构多态性。我们通过检查物种间估计的重组率和遗传分化的差异,评估了固定种间SVs的功能意义,揭示了一个复杂的自然选择历史。共享结构多态性显示出潜在适应性基因的富集。了解不同类别的基因突变如何导致遗传多样性和生殖障碍,对于理解生物体如何提高适应性、适应不断变化的环境以及实现多样化至关重要。我们的研究结果揭示了种间SVs的普遍性,并阐明了它们在群体内部和群体之间的遗传分化、适应性进化和物种分歧中的作用。