Related Experiment Video
Updated: Jul 7, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Evaluation of genetic variation contributing to differences in gene expression between populations
Wei Zhang1, Shiwei Duan, Emily O Kistner
1Department of Medicine, The University of Chicago, Chicago, IL 60637, USA.
American Journal of Human Genetics
|March 4, 2008
Summary
Genetic variations significantly influence gene expression differences between European and African populations. These expression variations are linked to specific biological processes and genetic factors, impacting disease susceptibility and drug response.
Area of Science:
- Genomics
- Population Genetics
- Molecular Biology
Background:
- Gene expression is a complex trait influenced by genetic variation.
- Population differences in gene expression may explain variations in disease susceptibility and drug response.
Purpose of the Study:
- To characterize gene expression differences in lymphoblastoid cell lines from European and African ancestries.
- To identify genetic factors contributing to these population-level gene expression differences.
Main Methods:
- Analysis of 9156 transcript clusters using Affymetrix GeneChip Human Exon 1.0 ST Array.
- Genome-wide association studies (GWAS) to correlate gene expression with single-nucleotide polymorphisms (SNPs).
Main Results:
- Significant gene expression differences were observed for 383 transcript clusters between populations.
- Enrichment of biological processes like ribosome biogenesis and antimicrobial response in differentially expressed genes.
- Identification of significant associations between differentially expressed genes and specific SNPs, supporting a genetic basis.
Conclusions:
- Genetic variation is a key driver of population differences in gene expression.
- Differentially expressed genes are involved in biological processes potentially influencing population-level health disparities.
- Both genetic and non-genetic factors contribute to observed gene expression variations between populations.
More Related Videos
Related Concept Videos
01:25What is Population Genetics?
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.While some alleles of a given gene might be observed commonly, other variants...
01:09Mutation, Gene Flow, and Genetic Drift
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).Mechanisms of Genetic VariationThe original sources of genetic variation are mutations,...
01:25Genetic Variation
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Genes exist in different versions called alleles, which...
02:39Gene Flow
Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.
01:27Principles of Pharmacogenetics: Types of Genetic Variants
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...