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General Transcription Factors

General Transcription Factors

Tissue-specific transcription factors contribute to diverse cellular functions in mammals. For example, the gene for beta globin, a major component of hemoglobin, is present in all cells of the body. However, it is only expressed in red blood cells because the transcription factors that can bind to the promoter sequences of the beta globin gene are only expressed in these cells. Tissue-specific transcription factors also ensure that mutations in these factors may impair only the function of...

Cell Specific Gene Expression

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...

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Cell Specific Gene Expression

No description available

What is Gene Expression?

What 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...

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Related Experiment Video

Updated: Mar 30, 2026

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers

Published on: March 1, 2024

Aberrant gene expression prediction across human tissues.

Florian R Hölzlwimmer¹, Jonas Lindner¹, Georgios Tsitsiridis¹

¹School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.

Nature Communications

|March 29, 2025

Summary

This summary is machine-generated.

A new model, AbExp, predicts aberrantly expressed genes using variant effects and tissue-specific expression, improving disease gene discovery. This approach enhances prediction accuracy and phenotype insights from genetic data.

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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

Area of Science:

Genomics
Computational Biology
Precision Medicine

Background:

Aberrant gene expression is frequently implicated in diseases.
Current algorithms for predicting individual aberrant gene expression are lacking.

Purpose of the Study:

To develop and validate a predictive model for aberrant gene expression.
To improve gene discovery and phenotype prediction using variant data.

Main Methods:

Compiled a benchmark of 8.2 million rare variants from 633 individuals across 49 tissues.
Trained the AbExp model integrating variant annotations, expression variability, and splicing effects.
Integrated expression data from clinically accessible tissues.

Main Results:

Existing tools (CADD, LOFTEE) showed mild predictive ability (1-1.6% average precision).
The AbExp model achieved 12% average precision, with a two-fold improvement when integrating accessible tissue data.
AbExp variant scores increased gene discovery sensitivity and improved phenotype predictions on UK Biobank blood traits.

Conclusions:

AbExp offers a significant advancement in predicting aberrant gene expression.
The model's tissue-specific approach and integration of diverse data enhance its utility.
This method holds promise for advancing genetic disease research and personalized medicine.