Tan Xiyu, Zeng Wanyong, Yang Yujian, Lin Zhansheng, Li Fuquan, Liu Jianhong, Chen Shaotong, Liu Yao-Guang, Xie Weibo, Xie Xianrong
Guangdong Basic Research Center of Excellence for Precise Breeding of Future Crops, State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, College of Agriculture, South China Agricultural University, Guangzhou, Guangdong 510642, China.
National Key Laboratory of Crop Genetic Improvement, Hubei Hongshan Laboratory, Huazhong Agricultural University, Wuhan, Hubei 430070, China.
J Genet Genomics. 2025 Jun;52(6):733-746. doi: 10.1016/j.jgg.2025.03.005. Epub 2025 Mar 14.
Short tandem repeats (STRs) modulate gene expression and contribute to trait variation. However, a systematic evaluation of the genomic characteristics of STRs has not been conducted, and their influence on gene expression in rice remains unclear. Here, we construct a map of 137,629 polymorphic STRs in the rice (Oryza sativa L.) genome using a population-scale resequencing dataset. A genome-wide survey encompassing 4726 accessions shows that the occurrence frequency, mutational patterns, chromosomal distribution, and functional properties of STRs are correlated with the sequences and lengths of repeat motifs. Leveraging a transcriptome dataset from 127 rice accessions, we identify 44,672 expression STRs (eSTRs) by modeling gene expression in response to the length variation of STRs. These eSTRs are notably enriched in the regulatory regions of genes with active transcriptional signatures. Population analysis identifies numerous STRs that have undergone genetic divergence among different rice groups and 1726 tagged STRs that may be associated with agronomic traits. By editing the (ACT) STR in OsFD1 promoter, we further experimentally validate its role in regulating gene expression and phenotype. Our study highlights the contribution of STRs to transcriptional regulation in plants and establishes the foundation for their potential use as alternative targets for genetic improvement.
短串联重复序列(STRs)调节基因表达并导致性状变异。然而,尚未对STRs的基因组特征进行系统评估,其对水稻基因表达的影响仍不清楚。在此,我们利用群体规模的重测序数据集构建了水稻(Oryza sativa L.)基因组中137,629个多态性STRs的图谱。一项涵盖4726份种质的全基因组调查表明,STRs的出现频率、突变模式、染色体分布和功能特性与重复基序的序列和长度相关。利用来自127份水稻种质的转录组数据集,我们通过模拟基因表达对STRs长度变异的响应,鉴定出44,672个表达性STRs(eSTRs)。这些eSTRs在具有活跃转录特征的基因调控区域中显著富集。群体分析确定了不同水稻群体间发生遗传分化的众多STRs以及1726个可能与农艺性状相关的标记STRs。通过编辑OsFD1启动子中的(ACT)STR,我们进一步通过实验验证了其在调节基因表达和表型中的作用。我们的研究突出了STRs对植物转录调控的贡献,并为其作为遗传改良的替代靶点的潜在应用奠定了基础。