郝兆东
Plant Cell:短串联重复的长度变异影响拟南芥自然群体的基因表达
2021-4-18 22:05
阅读:1591

Length variation in short tandem repeats affects gene expression in natural populations of Arabidopsis thaliana

第一作者William B Reinar

第一单位奥斯陆大学

通讯作者Melinka A Butenko


 Abstract 


背景回顾The genetic basis for the fine-tuned regulation of gene expression is complex and ultimately influences the phenotype and thus the local adaptation of natural populations. Short tandem repeats (STRs) consisting of repetitive DNA motifs have been shown to regulate gene expression. STRs are variable in length within a population and serve as a heritable, but semi-reversible, reservoir of standing genetic variation. For sessile organisms such as plants, STRs could be of major importance in fine-tuning gene expression as a response to a shifting local environment. 


主要研究:Here, we used a transcriptome dataset from natural accessions of Arabidopsis thaliana to investigate population-wide gene expression patterns in light of genome-wide STR variation. 


结果1:We empirically modeled gene expression as a response to the STR length within and around the gene and demonstrated that an association between gene expression and STR length variation is unequivocally present in the sampled population. 


结果2:To support our model, we explored the promoter activity in a transcriptional regulator involved in root hair formation and provided experimentally determined causality between coding sequence length variation and promoter activity.


结论:Our results support a general link between gene expression variation and STR length variation in A. thaliana.


 摘 要 


基因表达的精细调控背后潜在的遗传基础十分复杂,并最终会影响表型,从而影响自然群体的地域适应。已有研究显示,由重复DNA基序组成的短串联重复(Short tandem repeats, STRs)能够调控基因表达。一个群体中,STRs的长度存在变异,是一个可遗传、但半可逆的遗传变异库。对于植物等固着生物来说,STRs在精细调控基因表达以应对局部的环境变化方面具有重要意义。本文中,作者基于一个来自拟南芥自然资源的转录组数据集,根据全基因组STR的变异来研究群体范围内的基因表达模式。作者将基因表达作为对基因内及相邻STR长度的一种响应进行经验建模,发现基因表达和STR长度变异之间的关联在样本群体中明确存在。为了验证该模型,作者进一步研究了参与根毛形成的转录调节因子的启动子活性,并通过实验确定了编码序列长度变化和启动子活性之间的因果关系。本文的研究结果证实了拟南芥中基因表达变异和STR长度变异之间存在普遍关联。


 通讯作者 

** Melinka A Butenko **


研究方向拟南芥为模型研究多肽配体-受体之间的相互作用。


doi: https://doi.org/10.1093/plcell/koab107


Journal: Plant Cell

Published date: Apr 12, 2021

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