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Related Experiment Video

Updated: May 29, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

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Epistatic selection between coding and regulatory variation in human evolution and disease.

Tuuli Lappalainen¹, Stephen B Montgomery, Alexandra C Nica

¹Department of Genetic Medicine and Development, University of Geneva Medical School, Switzerland. tuuli.lappalainen@unige.ch

American Journal of Human Genetics

|September 13, 2011

Summary

This summary is machine-generated.

Genetic variants interact, with regulatory elements modifying the impact of coding variants. This genome-wide interaction helps explain human traits and diseases by revealing how genetic variations influence function.

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Area of Science:

Genetics
Genomics
Population Genetics

Background:

Genetic interactions (nonadditive effects) are crucial for phenotypic variation but challenging to discover in humans.
Cis-regulatory variation's modifier effects on protein-coding variants shape human genome variation spectrum.

Purpose of the Study:

Investigate how cis-regulatory variation modifies the functional impact of coding variants.
Analyze genome-wide data to detect and characterize genetic interactions influencing human phenotypes.

Main Methods:

Analyzed 1000 Genomes population resequencing data (CEU and YRI).
Integrated gene expression data (arrays and RNA sequencing).
Examined frequency spectrum and impact size of regulatory polymorphisms (eQTLs) and coding variants.

Main Results:

Observed underrepresentation of functional coding variation on highly expressed regulatory haplotypes, indicating purifying selection.
Found evidence that eQTLs associated with GWAS signals are enriched for epistatic effects.
Demonstrated that regulatory and coding variants mutually modify each other's functional impact.

Conclusions:

Regulatory and coding variants interact, influencing each other's functional impact.
This type of genetic interaction is detectable genome-wide using sequencing data.
Characterizing these joint effects aids understanding of genetic associations in Mendelian and common diseases.