Published May 14, 2021 | Version v1
Journal article Open

Functional dynamic genetic effects on gene regulation are specific to particular cell types and environmental conditions

Description

Genetic effects on gene expression and splicing can be modulated by cellular and environmental factors; yet interactions between genotypes, cell type and treatment have not been comprehensively studied together. We used an induced pluripotent stem cell system to study multiple cell types derived from the same individuals and exposed them to a large panel of treatments. Cellular responses involved different genes and pathways for gene expression and splicing, and were highly variable across contexts. For thousands of genes, we identified variable allelic expression across contexts and characterized different types of gene-environment interactions, many of which are associated with complex traits. Promoter functional and evolutionary features distinguished genes with elevated allelic imbalance mean and variance. On average half of the genes with dynamic regulatory interactions were missed by large eQTL mapping studies, indicating the importance of exploring multiple treatments to reveal previously unrecognized regulatory loci that may be important for disease.

Data availability

Sequencing files have been uploaded to the Sequence Read Archive (SRA) under Bioproject PRJNA694697.

The following data sets were generated:

Findley A Pique-Regi R Gilad Y Luca F (2021) NCBI BioProject ID PRJNA694697. Gene expression of LCLs, IPSCs, and CMs following 28 perturbations. http://www.ncbi.nlm.nih.gov/bioproject/694697

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Additional details

Identifiers

DOI
10.7554/eLife.67077
Other
oai:uchicago.tind.io:9903

Funding

National Institute of General Medical Sciences
R01GM109215
National Institute of General Medical Sciences
R35GM131726
National Institute of General Medical Sciences
F30GM131580
National Institute of General Medical Sciences
R35GM125055
National Science Foundation
III-1705121

UChicago Information

Division(s)
Biological Sciences Division
Department(s)
Human Genetics, Medicine