She Hongbing, Liu Zhiyuan, Xu Zhaosheng, Zhang Helong, Wu Jian, Cheng Feng, Wang Xiaowu, Qian Wei
State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing, China.
Zhongyuan Research Center, Chinese Academy of Agricultural Sciences, Xinxiang, China.
Plant Biotechnol J. 2024 Nov;22(11):3102-3117. doi: 10.1111/pbi.14433. Epub 2024 Aug 2.
Structural variations (SVs) are major genetic variants that can be involved in the origin, adaptation and domestication of species. However, the identification and characterization of SVs in Spinacia species are rare due to the lack of a pan-genome. Here, we report eight chromosome-scale assemblies of cultivated spinach and its two wild species. After integration with five existing assemblies, we constructed a comprehensive Spinacia pan-genome and identified 193 661 pan-SVs, which were genotyped in 452 Spinacia accessions. Our pan-SVs enabled genome-wide association study identified signals associated with sex and clarified the evolutionary direction of spinach. Most sex-linked SVs (86%) were biased to occur on the Y chromosome during the evolution of the sex-linked region, resulting in reduced Y-linked gene expression. The frequency of pan-SVs among Spinacia accessions further illustrated the contribution of these SVs to domestication, such as bolting time and seed dormancy. Furthermore, compared with SNPs, pan-SVs act as efficient variants in genomic selection (GS) because of their ability to capture missing heritability information and higher prediction accuracy. Overall, this study provides a valuable resource for spinach genomics and highlights the potential utility of pan-SV in crop improvement and breeding programmes.
结构变异(SVs)是主要的遗传变异,可能参与物种的起源、适应和驯化。然而,由于缺乏泛基因组,菠菜属物种中SVs的鉴定和特征分析很少见。在这里,我们报告了栽培菠菜及其两个野生种的8个染色体水平的基因组组装。与现有的5个组装整合后,我们构建了一个全面的菠菜泛基因组,并鉴定了193661个泛SVs,对452份菠菜种质进行了基因分型。我们的泛SVs全基因组关联研究确定了与性别相关的信号,并阐明了菠菜的进化方向。在性连锁区域的进化过程中,大多数性连锁SVs(86%)偏向于出现在Y染色体上,导致Y连锁基因表达降低。菠菜种质中泛SVs的频率进一步说明了这些SVs对驯化的贡献,如抽薹时间和种子休眠。此外,与单核苷酸多态性(SNPs)相比,泛SVs由于能够捕获缺失的遗传力信息和更高的预测准确性,在基因组选择(GS)中是有效的变异。总体而言,本研究为菠菜基因组学提供了宝贵资源,并突出了泛SVs在作物改良和育种计划中的潜在效用。