Université Grenoble Alpes, Université Savoie Mont-Blanc, CNRS, LECA, Grenoble, France.
Genome Biol Evol. 2021 Aug 3;13(8). doi: 10.1093/gbe/evab165.
During domestication processes, changes in selective pressures induce multiple phenotypical, physiological, and behavioral changes in target species. The rise of next-generation sequencing has provided a chance to study the genetics bases of these changes, most of the time based on single nucleotide polymorphisms (SNPs). However, several studies have highlighted the impact of structural variations (SVs) on individual fitness, particularly in domestic species. We aimed at unraveling the role of SVs during the domestication and later improvement of small ruminants by analyzing whole-genome sequences of 40 domestic sheep and 11 of their close wild relatives (Ovis orientalis), and 40 goats and 18 of their close wild relatives (Capra aegagrus). Using a combination of detection tools, we called 45,796 SVs in Ovis and 15,047 SVs in Capra genomes, including insertions, deletions, inversions, copy number variations, and chromosomal translocations. Most of these SVs were previously unreported in small ruminants. 69 and 45 SVs in sheep and goats, respectively, were in genomic regions with neighboring SNPs highly differentiated between wilds and domestics (i.e., putatively related to domestication). Among them, 25 and 20 SVs were close to or overlapping with genes related to physiological and morpho-anatomical traits linked with productivity (e.g., size, meat or milk quality, wool color), reproduction, or immunity. Finally, several of the SVs differentiated between wilds and domestics would not have been detected by screening only the differentiation of SNPs surrounding them, highlighting the complementarity of SVs and SNPs based approaches to detect signatures of selection.
在驯化过程中,选择压力的变化会导致目标物种在表型、生理和行为上发生多种变化。新一代测序技术的兴起为研究这些变化的遗传基础提供了机会,这些研究大多基于单核苷酸多态性 (SNP)。然而,有几项研究强调了结构变异 (SV) 对个体适应性的影响,尤其是在驯化物种中。我们旨在通过分析 40 只家养绵羊及其 11 只近缘野生种 (Ovis orientalis) 和 40 只山羊及其 18 只近缘野生种 (Capra aegagrus) 的全基因组序列,揭示 SV 在小反刍动物驯化和后续改良过程中的作用。我们使用了一系列检测工具,在 Ovis 基因组中鉴定出 45796 个 SV,在 Capra 基因组中鉴定出 15047 个 SV,包括插入、缺失、倒位、拷贝数变异和染色体易位。这些 SV 大多数在小反刍动物中之前没有报道过。绵羊和山羊分别有 69 和 45 个 SV 位于野生种和家养种之间具有高度分化的 SNP 相邻基因组区域 (即可能与驯化有关)。其中,25 个和 20 个 SV 靠近或重叠与生理和形态解剖特征相关的基因,这些特征与生产力 (如大小、肉或奶质量、羊毛颜色)、繁殖或免疫有关。最后,野生种和家养种之间分化的一些 SV 如果只筛选围绕它们的 SNP 的分化就不会被检测到,这突出了 SV 和 SNP 检测选择信号的方法的互补性。