Related Experiment Video
Updated: Jul 15, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Genetic inheritance of gene expression in human cell lines
S A Monks1, A Leonardson, H Zhu
1Department of Statistics, Oklahoma State University, Stillwater, OK 74078-1056, USA. stephanie.monks@okstate.edu
American Journal of Human Genetics
|October 30, 2004
Summary
This study surveyed gene expression heritability in human populations, finding significant heritability in 31% of expressed genes and identifying quantitative trait loci (QTLs) for 33 genes, offering insights into complex trait genetics.
Area of Science:
- Human genetics
- Systems biology
- Genomics
Background:
- Combining genetic inheritance with molecular profiles and complex traits is key for identifying quantitative trait loci (QTLs) and understanding gene regulation.
- Assessing the heritability of gene expression in human populations is a crucial first step in applying this approach to human complex traits.
Purpose of the Study:
- To conduct the largest survey to date on the heritability of gene-expression traits in segregating human populations.
- To determine the feasibility of integrating genetic inheritance information for molecular profiles and complex traits in humans.
Main Methods:
- Gene expression was measured for 23,499 genes in lymphoblastoid cell lines from 15 Centre d'Etude du Polymorphisme Humain (CEPH) families.
- Heritability was assessed for expressed genes using a false-discovery rate of 0.05.
- Quantitative trait loci (QTLs) were detected, and hierarchical clustering was performed based on gene expression and genetic correlation.
Main Results:
- Of 2,340 expressed genes, 31% showed significant heritability.
- QTLs were identified for 33 genes, with 13 located within 5 Mb of their physical location.
- Clustering based on genetic correlation revealed greater pathway coherence in Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways compared to Pearson correlation.
Conclusions:
- A significant proportion of gene-expression traits in humans are heritable.
- Genetic correlation provides a powerful approach for identifying biologically relevant gene networks and pathways.
- Integrating genetic correlation and QTL data holds promise for uncovering genetic underpinnings of complex traits.
More Related Videos
09:51Generation of Stable Human Cell Lines with Tetracycline-inducible (Tet-on) shRNA or cDNA Expression
Published on: March 5, 2013
10:48Derivation and Characterization of a Transgene-free Human Induced Pluripotent Stem Cell Line and Conversion into Defined Clinical-grade Conditions
Published on: November 26, 2014
Related Concept Videos
01:42What is Gene Expression?
Overview
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
Gene expression is the process in which DNA directs the synthesis of functional products, that is, proteins. Cells can regulate gene expression at various stages. It allows organisms to generate different cell types and enables cells to adapt to internal and external factors.
Genetic Information Flows from DNA to RNA to Protein
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is made up of nucleotides and proteins consist of amino...
01:58Cell Specific Gene Expression
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
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...
01:36What is Gene Expression?
A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then processed and...
01:58Cell Specific Gene Expression
Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
01:16Cell Lines
A cell line is a population of cells grown in vitro that can be subcultured over several generations. Normal cells cease to divide after a certain number of cell divisions, a process known as replicative senescence. This number, called the Hayflick limit, was conceptualized by Leonard Hayflick in 1961 when he observed that fetal cells grown in culture could only divide 40-60 times. This limit is due to the shortening of the telomeres during each round of cell division, preventing cell division...