State Key Laboratory of Plant Physiology and Biochemistry, College of Biological Sciences, China Agricultural University, Beijing, 100193, China.
National Genomics Data Center & CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, and China National Center for Bioinformation, Beijing, 100101, China.
Genome Biol. 2020 Jul 6;21(1):163. doi: 10.1186/s13059-020-02069-1.
Gene expression is a key determinant of cellular response. Natural variation in gene expression bridges genetic variation to phenotypic alteration. Identification of the regulatory variants controlling the gene expression in response to drought, a major environmental threat of crop production worldwide, is of great value for drought-tolerant gene identification.
A total of 627 RNA-seq analyses are performed for 224 maize accessions which represent a wide genetic diversity under three water regimes; 73,573 eQTLs are detected for about 30,000 expressing genes with high-density genome-wide single nucleotide polymorphisms, reflecting a comprehensive and dynamic genetic architecture of gene expression in response to drought. The regulatory variants controlling the gene expression constitutively or drought-dynamically are unraveled. Focusing on dynamic regulatory variants resolved to genes encoding transcription factors, a drought-responsive network reflecting a hierarchy of transcription factors and their target genes is built. Moreover, 97 genes are prioritized to associate with drought tolerance due to their expression variations through the Mendelian randomization analysis. One of the candidate genes, Abscisic acid 8'-hydroxylase, is verified to play a negative role in plant drought tolerance.
This study unravels the effects of genetic variants on gene expression dynamics in drought response which allows us to better understand the role of distal and proximal genetic effects on gene expression and phenotypic plasticity. The prioritized drought-associated genes may serve as direct targets for functional investigation or allelic mining.
基因表达是细胞反应的关键决定因素。基因表达的自然变异将遗传变异与表型改变联系起来。鉴定控制基因表达对干旱响应的调控变体对于耐旱基因的鉴定具有重要价值,干旱是全球作物生产的主要环境威胁。
对代表广泛遗传多样性的 224 个玉米品系在三种水分条件下进行了总共 627 次 RNA-seq 分析;利用高密度全基因组单核苷酸多态性检测到约 30000 个表达基因的 73573 个 eQTL,反映了基因表达对干旱响应的综合和动态遗传结构。鉴定了控制基因表达组成型或干旱动态变化的调控变体。重点关注解析为转录因子编码基因的动态调控变体,构建了反映转录因子及其靶基因层次结构的干旱响应网络。此外,由于其表达变化通过孟德尔随机化分析与耐旱性相关,97 个基因被优先考虑。候选基因之一,脱落酸 8'-羟化酶,被证明在植物耐旱性中起负作用。
本研究揭示了遗传变异对干旱响应中基因表达动态的影响,使我们能够更好地理解远端和近端遗传效应对基因表达和表型可塑性的作用。优先考虑的耐旱相关基因可能作为功能研究或等位基因挖掘的直接靶标。