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Related Concept Videos

Regulation of Expression at Multiple Steps01:23

Regulation of Expression at Multiple Steps

The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the addition of a...
Cell Specific Gene Expression01:58

Cell 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...
Cell Specific Gene Expression01:58

Cell 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...
Regulation of Expression Occurs at Multiple Steps02:24

Regulation of Expression Occurs at Multiple Steps

Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
Regulation of Expression Occurs at Multiple Steps02:24

Regulation of Expression Occurs at Multiple Steps

Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...
Structure of a Gene01:30

Structure of a Gene

A gene is the fundamental unit of heredity. Every individual has two copies of each gene, one inherited from each parent. Although most people contain the same genes, there is a small fraction that is slightly different amongst people. A gene with a small difference in its sequence of DNA bases forms different alleles, contributing to different phenotypes.
However, only 1% of the DNA is composed of genes that encode proteins; the rest, 99% is non-coding DNA. This non-coding DNA performs...

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Related Experiment Video

Updated: Jun 21, 2026

Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards
10:50

Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards

Published on: February 25, 2017

Common regulatory variation impacts gene expression in a cell type-dependent manner.

Antigone S Dimas1, Samuel Deutsch, Barbara E Stranger

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB10 1HH, Cambridge, UK.

Science (New York, N.Y.)
|August 1, 2009
PubMed
Summary

Understanding genetic variation

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

Published on: November 3, 2010

Related Experiment Videos

Last Updated: Jun 21, 2026

Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards
10:50

Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards

Published on: February 25, 2017

Describing a Transcription Factor Dependent Regulation of the MicroRNA Transcriptome
07:23

Describing a Transcription Factor Dependent Regulation of the MicroRNA Transcriptome

Published on: June 15, 2016

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

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

Published on: November 3, 2010

Area of Science:

  • Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • Genetic variations influence human phenotypes and diseases.
  • Functional variants can act in a tissue-specific manner.

Purpose of the Study:

  • To investigate cell type-specific genetic effects on gene expression.
  • To identify regulatory variants and their association with gene expression across different cell types.

Main Methods:

  • Gene expression profiling was performed on three cell types from 75 individuals.
  • Association analysis was conducted between genetic variants (single-nucleotide polymorphisms) and gene expression levels.
  • Identified expressive quantitative trait loci (eQTLs) and analyzed their cell type specificity.

Main Results:

  • 69-80% of regulatory variants exhibited cell type-specific effects.
  • Multiple eQTLs were identified per gene, some unique and some shared across cell types.
  • Cell type-specific eQTLs were found at greater distances from genes with smaller effect sizes.

Conclusions:

  • Gene expression regulation is significantly influenced by cell type context.
  • A comprehensive understanding of regulatory variants requires cell type-specific analysis.
  • This approach reveals a broader repertoire of regulatory variants impacting human traits.