河北农业大学张彩英等人合作的一项最新研究，通过对一个现代大豆栽培品种的高质量基因组重构和547个进化品系的重新测序，揭示了结构变异（SV）的功能。2024年9月9日，国际学术期刊《自然—遗传学》发表了这一成果。

研究人员组装了现代栽培品种Nongdadou2（NDD2）的高质量基因组，与29个已报道的基因组相比，研究鉴定出25,814对SV基因对，在547个深度测序（平均=18.05倍）序列中验证了其中13个NDD2特有的SV，这加深了人们对基因组变异生物学的理解。

研究发现了一些与种子蛋白质和重量形成有关的插入/缺失，一个与适应干旱有关的反转，以及一个与大豆分化事件有关的关键大型转座子。在547个品种的749714个SVs中，有6013个与在10个地区×年份环境中测定的，22个与产量相关性状和种子质量相关性状，存在显著关联。

研究发现了1,761个与基因或调控区域相关的SVs，其中GmMQT中12个SVs影响了油脂和异黄酮的含量。该研究工作为在大豆改良中SV的作用提供了资源和见解。

研究人员表示，大豆为人们提供了蛋白质、油脂和多种与健康相关的化合物。在现代育种中，了解结构变异对经济性状的影响对改良大豆品种非常重要。

附：英文原文

Title: High-quality genome of a modern soybean cultivar and resequencing of 547 accessions provide insights into the role of structural variation

Author: Zhang, Caiying, Shao, Zhenqi, Kong, Youbin, Du, Hui, Li, Wenlong, Yang, Zhanwu, Li, Xiangkong, Ke, Huifeng, Sun, Zhengwen, Shao, Jiabiao, Chen, Shiliang, Zhang, Hua, Chu, Jiahao, Xing, Xinzhu, Tian, Rui, Qin, Ning, Li, Junru, Huang, Meihong, Sun, Yaqian, Huo, Xiaobo, Meng, Chengsheng, Wang, Guoning, Liu, Yuan, Ma, Zhiying, Tian, Shilin, Li, Xihuan

Issue&Volume: 2024-09-09

Abstract: Soybean provides protein, oil and multiple health-related compounds. Understanding the effects of structural variations (SVs) on economic traits in modern breeding is important for soybean improvement. Here we assembled the high-quality genome of modern cultivar Nongdadou2 (NDD2) and identified 25,814 SV–gene pairs compared to 29 reported genomes, with 13 NDD2-private SVs validated in 547 deep-resequencing (average=18.05-fold) accessions, which advances our understanding of genomic variation biology. We found some insertions/deletions involved in seed protein and weight formation, an inversion related to adaptation to drought and a large intertranslocation implicated in a key divergence event in soybean. Of 749,714 SVs from 547 accessions, 6,013 were significantly associated with 22 yield-related and seed-quality-related traits determined in ten location×year environments. We uncovered 1,761 associated SVs that hit genes or regulatory regions, with 12 in GmMQT influencing oil and isoflavone contents. Our work provides resources and insights into SV roles in soybean improvement.

DOI: 10.1038/s41588-024-01901-9

Source: https://www.nature.com/articles/s41588-024-01901-9