PDF(Pubmed)
Abstract：
Sheep and goats have undergone domestication and improvement to produce similar phenotypes, which have been greatly impacted by structural variants (SVs). Here, we report a high-quality chromosome-level reference genome of Asiatic mouflon, and implement a comprehensive analysis of SVs in 897 genomes of worldwide wild and domestic populations of sheep and goats to reveal genetic signatures underlying convergent evolution.
We characterize the SV landscapes in terms of genetic diversity, chromosomal distribution and their links with genes, QTLs and transposable elements, and examine their impacts on regulatory elements. We identify several novel SVs and annotate corresponding genes (e.g., BMPR1B, BMPR2, RALYL, COL21A1, and LRP1B) associated with important production traits such as fertility, meat and milk production, and wool/hair fineness. We detect signatures of selection involving the parallel evolution of orthologous SV-associated genes during domestication, local environmental adaptation, and improvement. In particular, we find that fecundity traits experienced convergent selection targeting the gene BMPR1B, with the DEL00067921 deletion explaining ~10.4% of the phenotypic variation observed in goats.
Our results provide new insights into the convergent evolution of SVs and serve as a rich resource for the future improvement of sheep, goats, and related livestock.
We characterize the SV landscapes in terms of genetic diversity, chromosomal distribution and their links with genes, QTLs and transposable elements, and examine their impacts on regulatory elements. We identify several novel SVs and annotate corresponding genes (e.g., BMPR1B, BMPR2, RALYL, COL21A1, and LRP1B) associated with important production traits such as fertility, meat and milk production, and wool/hair fineness. We detect signatures of selection involving the parallel evolution of orthologous SV-associated genes during domestication, local environmental adaptation, and improvement. In particular, we find that fecundity traits experienced convergent selection targeting the gene BMPR1B, with the DEL00067921 deletion explaining ~10.4% of the phenotypic variation observed in goats.
Our results provide new insights into the convergent evolution of SVs and serve as a rich resource for the future improvement of sheep, goats, and related livestock.
摘要：
背景：绵羊和山羊经过驯化和改良以产生相似的表型，受到结构变体(SV)的极大影响。这里,我们报告了亚洲mouflon的高质量染色体水平参考基因组，并对全球野生和国内绵羊和山羊种群的897个基因组中的SVs进行全面分析，以揭示趋同进化的遗传特征。
结果：我们根据遗传多样性来表征SV景观，染色体分布及其与基因的联系，QTL和转座因子，并检查它们对监管要素的影响。我们鉴定了几个新的SV并注释了相应的基因(例如，BMPR1B,BMPR2,RALYL,COL21A1和LRP1B）与重要的生产性状相关，如生育力，肉类和牛奶生产，和羊毛/头发细度。我们在驯化过程中检测到涉及直系同源SV相关基因平行进化的选择特征，当地环境适应，和改进。特别是,我们发现繁殖力性状经历了针对基因BMPR1B的趋同选择，DEL00067921缺失解释了在山羊中观察到的表型变异的约10.4%。
结论：我们的结果为SVs的融合进化提供了新的见解，并为绵羊的未来改良提供了丰富的资源，山羊,和相关的牲畜。
结果：我们根据遗传多样性来表征SV景观，染色体分布及其与基因的联系，QTL和转座因子，并检查它们对监管要素的影响。我们鉴定了几个新的SV并注释了相应的基因(例如，BMPR1B,BMPR2,RALYL,COL21A1和LRP1B）与重要的生产性状相关，如生育力，肉类和牛奶生产，和羊毛/头发细度。我们在驯化过程中检测到涉及直系同源SV相关基因平行进化的选择特征，当地环境适应，和改进。特别是,我们发现繁殖力性状经历了针对基因BMPR1B的趋同选择，DEL00067921缺失解释了在山羊中观察到的表型变异的约10.4%。
结论：我们的结果为SVs的融合进化提供了新的见解，并为绵羊的未来改良提供了丰富的资源，山羊,和相关的牲畜。
