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Updated: Dec 5, 2025

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
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Gene expression variability in human and chimpanzee populations share common determinants
Benjamin Jung Fair1, Lauren E Blake2, Abhishek Sarkar2
1Department of Medicine, University of Chicago, Chicago, United States.
Elife
|October 21, 2020
Summary
Gene expression differences between individuals are heritable and linked to disease risk. Our study shows this variation is often conserved between humans and chimpanzees, evolving under similar evolutionary pressures.
Area of Science:
- Evolutionary biology
- Genomics
- Comparative genomics
Background:
- Inter-individual variation in gene expression is heritable and linked to disease susceptibility.
- Evolutionary processes shaping gene regulation differences between primate individuals are understudied.
Purpose of the Study:
- To investigate the evolutionary conservation of gene expression variability and expression quantitative trait loci (eQTLs) between humans and chimpanzees.
Main Methods:
- Comparative analysis of gene expression data from primary heart samples in humans and chimpanzees.
- Identification and comparison of expression quantitative trait loci (eQTLs) across species.
Main Results:
- Expression variability is influenced by non-genetic factors like cell-type heterogeneity in both species.
- Inter-individual gene regulation variation is genetically controlled and largely conserved between humans and chimpanzees.
- Significant overlap of orthologous genes associated with eQTLs was observed in both species.
Conclusions:
- Gene expression variability in humans and chimpanzees often evolves under similar evolutionary pressures.
- Genetic control of gene regulation variation is a conserved feature between humans and chimpanzees.
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