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Title: The effects of mutations on gene expression and alternative splicing

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.

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Award ID(s):
2042490
PAR ID:
10488431
Author(s) / Creator(s):
;
Publisher / Repository:
The Royal Society Publishing
Date Published:
Journal Name:
Proceedings of the Royal Society B: Biological Sciences
Volume:
290
Issue:
2002
ISSN:
0962-8452
Format(s):
Medium: X
Sponsoring Org:
National Science Foundation
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