The effects of mutations on gene expression and alternative splicing
The effects of mutations on gene expression and alternative splicing
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DOI：
10.1098/rspb.2023.0565
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发表时间：
2023-07-12
影响因子：
4.7
通讯作者：
Xu，Sen
中科院分区：
文献类型：
--
作者：
Snyman，Marelize;Xu，Sen
理解突变与其基因组和表型后果之间的关系一直是进化生物学的长期目标。然而，很少有研究调查的基因表达和选择性剪接的基因组范围内的突变的影响。在这项研究中，我们的目标是弥合这一知识差距，利用全基因组测序数据和RNA测序数据从16个专性孤雌生殖Daphniamutant线调查甲基磺酸乙酯诱导的突变对基因表达和选择性剪接的影响。使用严格的突变，表达变化和可变剪接的分析，我们表明，反式效应是野生型和突变株系之间的基因表达和可变剪接的差异的主要贡献者，而顺式突变只影响了有限数量的基因，并不总是改变基因表达。此外，我们发现差异表达的基因和外显子突变之间存在显着关联，表明外显子突变是改变基因表达的重要驱动因素。
Understanding the relationship between mutations and their genomic and phenotypic consequences has been a longstanding goal of evolutionary biology. However, few studies have investigated the impact of mutations on gene expression and alternative splicing on the genome-wide scale. In this study, we aim to bridge this knowledge gap by utilizing whole-genome sequencing data and RNA sequencing data from 16 obligately parthenogeneticDaphniamutant lines to investigate the effects of ethyl methanesulfonate-induced mutations on gene expression and alternative splicing. Using rigorous analyses of mutations, expression changes and alternative splicing, we show that trans-effects are the major contributor to the variance in gene expression and alternative splicing between the wild-type and mutant lines, whereas cis mutations only affected a limited number of genes and do not always alter gene expression. Moreover, we show that there is a significant association between differentially expressed genes and exonic mutations, indicating that exonic mutations are an important driver of altered gene expression.