School of Biological Sciences, University of Aberdeen, Tillydrone Avenue, Aberdeen, UK.
The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
Nat Commun. 2020 Oct 14;11(1):5176. doi: 10.1038/s41467-020-18972-x.
Structural variants (SVs) are a major source of genetic and phenotypic variation, but remain challenging to accurately type and are hence poorly characterized in most species. We present an approach for reliable SV discovery in non-model species using whole genome sequencing and report 15,483 high-confidence SVs in 492 Atlantic salmon (Salmo salar L.) sampled from a broad phylogeographic distribution. These SVs recover population genetic structure with high resolution, include an active DNA transposon, widely affect functional features, and overlap more duplicated genes retained from an ancestral salmonid autotetraploidization event than expected. Changes in SV allele frequency between wild and farmed fish indicate polygenic selection on behavioural traits during domestication, targeting brain-expressed synaptic networks linked to neurological disorders in humans. This study offers novel insights into the role of SVs in genome evolution and the genetic architecture of domestication traits, along with resources supporting reliable SV discovery in non-model species.
结构变异（SVs）是遗传和表型变异的主要来源，但由于其精确类型仍然具有挑战性，因此在大多数物种中特征描述较差。我们提出了一种使用全基因组测序可靠地发现非模式物种 SV 的方法，并在来自广泛地理分布的 492 条大西洋鲑（Salmo salar L.）中报告了 15483 个高可信度的 SV。这些 SV 以高分辨率恢复了种群遗传结构，包括一个活跃的 DNA 转座子，广泛影响功能特征，并与从祖先鲑鱼四倍体化事件中保留的更多重复基因重叠，超出预期。野生和养殖鱼类之间 SV 等位基因频率的变化表明，在驯化过程中针对行为特征进行了多基因选择，针对与人类神经紊乱相关的大脑表达突触网络。这项研究为 SV 在基因组进化和驯化特征遗传结构中的作用提供了新的见解，同时还提供了支持非模式物种可靠 SV 发现的资源。
Zotero 插件
