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Updated: May 25, 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

Quadruplex-single nucleotide polymorphisms (Quad-SNP) influence gene expression difference among individuals.

Aradhita Baral¹, Pankaj Kumar, Rashi Halder

¹Proteomics and Structural Biology Unit, Institute of Genomics and Integrative Biology, CSIR, Mall Road, Delhi 110 007, India.

Nucleic Acids Research

|January 13, 2012

Summary

This summary is machine-generated.

Single nucleotide polymorphisms (SNPs) in guanine quadruplex structures impact gene expression. These quadruplex-SNPs are conserved and influence transcription, offering insights into genetic variations.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Non-canonical guanine quadruplex structures are prevalent in promoters and implicated in transcription.
Single nucleotide polymorphisms (SNPs) affecting quadruplex architecture may influence gene function.

Purpose of the Study:

To investigate the association between SNPs within quadruplex motifs (Quad-SNPs) and gene expression.
To determine the role of quadruplex structures and Quad-SNPs in regulating transcription.

Main Methods:

Analysis of Quad-SNPs and gene expression in 270 individuals across four populations (HapMap).
Examination of Quad-SNPs from 1000 Genomes Project for selection bias.
Reporter gene assays using RPS3 promoter and synthetic promoters with and without quadruplex motifs.

Main Results:

Significant association found between Quad-SNPs and corresponding gene expression (P < 0.0001).
Evidence of selection bias against alterations in quadruplex motifs.
Quadruplex motifs enhanced transcription in reporter systems, while destabilized versions did not.

Conclusions:

Guanine quadruplex structures play a direct role in mediating transcription.
Quad-SNPs are significant factors in understanding individual variations in gene expression.