Related Experiment Video
Updated: May 15, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Human metastable epiallele candidates link to common disorders
R Alan Harris1, Dorottya Nagy-Szakal, Richard Kellermayer
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Epigenetics
|January 17, 2013
Summary
Metastable epialleles (MEs) are genomic regions with variable epigenetic patterns, influenced by early nutrition. This study identified new ME candidates, potentially linked to various human diseases and cancers.
Area of Science:
- Epigenetics and Genomics
- Developmental Biology
- Human Disease Etiology
Background:
- Metastable epialleles (MEs) exhibit stochastic epigenetic patterning before gastrulation, causing interindividual variation.
- Periconceptual nutrition may influence epigenetic establishment at MEs, including DNA methylation.
- Understanding MEs is crucial for deciphering the developmental origins of common human disorders.
Purpose of the Study:
- To identify and characterize novel metastable epialleles (MEs) in human tissues.
- To investigate the association between ME DNA methylation and gene expression.
- To explore the potential role of MEs in human disease, particularly cancers.
Main Methods:
- Utilized Infinium HumanMethylation450 BeadChip arrays for parallel DNA methylation screening.
- Analyzed DNA from peripheral blood leukocyte and colonic mucosal tissue in 10 children.
- Correlated DNA methylation data with gene expression data from independent control samples.
Main Results:
- Identified 1776 CpG sites as ME candidates, associated with 1013 genes.
- Found overlaps with genes previously linked to Parkinson disease, glioblastoma, and maternal nutrition.
- Discovered 35 ME candidates associated with gene expression, with several linked to various cancers.
Conclusions:
- The study presents a compendium of novel metastable epialleles (MEs).
- MEs, particularly those influencing gene expression, may play a role in tumorigenesis and other diseases.
- These findings advance the understanding of epigenetic contributions to common human disorders.
Related Concept Videos
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:43Sex Linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:35Pedigree Analysis
Overview
01:11Genetic Lingo
Overview
01:49Multiple Allele Traits
The Concept of Multiple Allelism