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Updated: Jan 22, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
23.3K
Dynamic genetic regulation of gene expression during cellular differentiation
B J Strober1, R Elorbany2,3, K Rhodes4
1Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21218, USA.
Science (New York, N.Y.)
|June 29, 2019
Summary
Genetic effects on gene expression change dynamically during cell differentiation. Researchers identified hundreds of dynamic and transient eQTLs (expression quantitative trait loci) that impact cell type-specific gene regulation.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- Gene expression regulation is dynamic, varying with cell differentiation and cell types.
- Understanding genetic influences on this dynamic process is crucial for deciphering complex traits and diseases.
Purpose of the Study:
- To map expression quantitative trait loci (eQTLs) across cell differentiation.
- To elucidate the temporal dynamics of genetic effects on cell type-specific gene expression.
Main Methods:
- Generated time-series RNA sequencing data from induced pluripotent stem cells differentiating into cardiomyocytes.
- Collected data across 16 time points and 19 human cell lines.
- Identified and characterized dynamic and nonlinear eQTLs.
Main Results:
- Identified hundreds of dynamic eQTLs that change over the course of differentiation.
- Found enrichment of dynamic eQTLs in cell type-specific enhancers.
- Discovered nonlinear dynamic eQTLs, transiently active during intermediate differentiation stages, missed in mature tissues.
- Highlighted a nonlinear eQTL associated with body mass index.
Conclusions:
- Genetic regulation of gene expression exhibits dynamic changes during differentiation.
- Transient, nonlinear eQTLs play a role in intermediate cell states and may contribute to complex traits and diseases.
- Time-series analysis is essential for capturing the full spectrum of genetic regulatory effects.
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