叶色突变体是由于基因突变致使叶绿素合成或降解异常, 进而导致叶片颜色改变的突变类型。叶色突变体不仅是解析光合与叶绿体发育机制的工具, 还是挖掘药用成分合成调控网络的关键材料, 在功能基因组学研究、分子标记辅助育种及高活性成分药用种质创制中应用前景广阔。尽管叶色突变体研究已取得一定成果, 但仍面临突变体筛选效率低、部分基因功能不明及多组学数据整合不足等问题。该文聚焦药用植物叶色突变体, 系统阐述其诱发途径、突变分子机制及特色应用, 凸显药用植物在次生代谢调控中的研究价值。叶色突变体诱发方式分为自发突变和人工诱发突变, 后者涵盖物理、化学和生物诱变, 各有优劣。在分子机制上, 叶绿素合成与降解关键基因突变导致色素代谢失衡, 叶绿体发育相关基因异常影响叶绿体结构与功能, 光合作用基因变异改变光能捕获与转化效率, 转录因子与光信号/激素通路协同调控叶色。在药用植物中, 叶色突变常伴随光合效率变化, 通过能量供应、碳氮分配及代谢前体共享, 重塑叶绿素代谢-次生代谢网络, 进而调控黄酮类、萜类及生物碱等药用次生代谢产物的合成与积累。未来需依托CRISPR基因编辑等技术, 结合多组学整合与人工智能筛选, 重点突破药用成分合成的光调控机制, 以期推动濒危物种遗传改良及高活性成分品种培育。

Leaf color mutants are mutation types in which gene mutations cause abnormalities in chlorophyll synthesis or degradation, thereby changing leaf color. Leaf color mutants are not only tools for analyzing photosynthetic and chloroplast development mechanisms, but also key materials for mining the regulatory network of medicinal component synthesis, and have broad application prospects in functional genomics research, molecular marker-assisted breeding and the creation of medicinal germplasm with high active ingredients. Although current research has achieved certain results, it still faces problems such as low efficiency in mutant screening, unclear functions of some genes, and insufficient integration of multi-omics data. This review focuses on leaf color mutants of medicinal plants, systematically expounds their induction pathways, mutation molecular mechanisms and characteristic applications, and highlights the research value of medicinal plants in secondary metabolism regulation. Their induction methods are divided into spontaneous mutation and artificial induction mutation, and the latter covers physical, chemical and biological mutagenesis, each with its own advantages and disadvantages. In terms of molecular mechanisms, mutations in key genes for chlorophyll synthesis and degradation lead to pigment metabolism imbalance, abnormalities in chloroplast development genes affect chloroplast structure and function, variations in photosynthesis genes change the efficiency of light energy capture and conversion, and transcription factors and light signal/hormone pathways synergistically regulate leaf color. Especially in medicinal plants, leaf color mutations are often accompanied by changes in photosynthetic efficiency. Through energy supply, carbon-nitrogen allocation and metabolic precursor sharing, the chlorophyll metabolism-secondary metabolism network is reshaped to regulate the synthesis and accumulation of medicinal secondary metabolites such as flavonoids, terpenoids and alkaloids. In the future, relying on technological innovations such as CRISPR gene editing, combining multi-omics integration and artificial intelligence screening, we should focus on breaking through the light regulation mechanism of medicinal component synthesis and promoting the genetic improvement of endangered species and the cultivation of high-active ingredients varieties.