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Related Experiment Video

Updated: May 3, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Single-nucleotide polymorphisms interact to affect ADH7 transcription.

Sowmya Jairam¹, Howard J Edenberg

¹Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana.

Alcoholism, Clinical and Experimental Research

|February 12, 2014

Summary

Genetic variants in alcohol dehydrogenase 7 (ADH7) are linked to alcoholism and cancer. Their regulatory elements show complex interactions, impacting gene expression differently based on sequence and cellular context.

Keywords:

Alcohol Dehydrogenase 7 Alcoholism Class IV Alcohol Dehydrogenase Gene Regulation Genetic Association

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CD Spectroscopy to Study DNA-Protein Interactions

CD Spectroscopy to Study DNA-Protein Interactions

Published on: February 10, 2022

Area of Science:

Genetics
Molecular Biology
Pharmacogenomics

Background:

Alcohol dehydrogenase 7 (ADH7) is crucial for ethanol and retinol metabolism.
ADH7 is primarily expressed in the upper gastrointestinal tract, not the liver.
Genetic variations in ADH7 are associated with alcoholism and cancer risk.

Purpose of the Study:

To identify transcriptional regulatory elements of ADH7.
To investigate the functional impact of ADH7 variants on gene expression.
To understand how cellular context influences variant effects.

Main Methods:

In vitro gene expression studies using transient transfection.
Utilized cell lines with and without endogenous ADH7 expression (CP-A and HepG2 cells).

Main Results:

Identified distinct transcriptional activities for ADH7 promoter haplotypes (A7P-G and A7P-A) differing at rs2851028.
Demonstrated interaction between upstream variants and proximal promoter variants.
An upstream enhancer (7P10) exhibited cell-type-specific effects on ADH7 promoter activity.

Conclusions:

ADH7 variant effects are contingent on both DNA sequence and cellular environment.
These complex interactions are critical for interpreting ADH7 associations with diseases like alcoholism and cancer.