水稻泛基因组研究进展:从多样性解析到育种应用

    Rice Pangenome Research Progress: From Diversity Dissection to Breeding Applications

    • 摘要: 水稻是全球最重要的主粮作物之一, 人口增长、气候变化、耕地和水资源有限等多重压力对其高产稳产性、强适应性与资源节约性提出严苛要求。传统水稻基因组研究主要依赖单一参考基因组(如‘日本晴’IRGSP-1.0), 存在“参考偏倚”问题, 难以全面覆盖栽培稻及其野生近缘种的遗传多样性。随着长读长测序、端粒到端粒(T2T)组装、图结构泛基因组及多组学整合技术的快速发展, 水稻泛基因组研究进入加速阶段。该文系统综述水稻泛基因组领域主要进展、研究发现、面临挑战和未来发展方向, 包括:(1)高质量基因组构建技术的革新及泛基因组构建方法学的改进; (2)泛基因组视角下遗传多样性与结构变异的精准鉴定, 以及水稻驯化过程中基因丢失和转座子驱动的表型多样性解析; (3)泛基因组在分子育种中的应用, 如分子标记开发、优异等位基因挖掘、谱系育种设计和全基因组选择辅助育种; (4)海量数据处理与功能基因验证所面临的挑战, 以及人工智能设计育种等未来方向。总体而言, 水稻泛基因组研究为解析复杂农艺性状遗传基础、加速品种改良提供了新工具与新范式, 也为其他作物的泛基因组研究及分子育种提供了重要借鉴。

       

      Abstract: Rice is one of the world's most important staple crops. Traditional rice genomic research has long relied on a single reference genome (e.g., Nipponbare), which suffers from "reference bias" and fails to capture the full breadth of genetic diversity in cultivated rice and its wild relatives. With the rapid advancement of long-read sequencing, graph-based pangenome assembly, and other technologies, rice pangenome research has entered an accelerated phase. This review summarizes the major advances, key research findings, current challenges, and future directions in rice pangenomics, including: (1) Innovations in high-quality genome sequencing and pangenome construction methods. (2) Novel insights into rice genetic diversity and structural variation from pangenome analyses, revealing domestication-related gene loss and transposon-driven phenotypic diversity. (3) The application of pangenomics in molecular breeding, such as structural variation marker development, elite allele mining, breeding design and AI-assisted breeding. (4) The challenges associated with large-scale data processing and functional gene validation, as well as future directions such as AI-driven breeding design. Overall, the rice pangenome provides new tools and paradigms for deciphering the genetic basis of complex traits and accelerating variety improvement, and offers important insights for pangenome research and molecular breeding in other crops.