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Related Experiment Video

Updated: Jul 18, 2026

Studying TGF-β Signaling and TGF-β-induced Epithelial-to-mesenchymal Transition in Breast Cancer and Normal Cells

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Functional nonsynonymous single nucleotide polymorphisms from the TGF-beta protein interaction network.

Sevtap Savas¹, Ian W Taylor, Jeff L Wrana

¹Fred A. Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Ontario, Canada.

Physiological Genomics

|December 28, 2006

Summary

Genetic variations in transforming growth factor beta (TGF-β) signaling proteins can impact cellular functions. This study identified 118 genetic variations with potential biological consequences in TGF-β pathway proteins.

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Molecular Analysis of Endothelial-mesenchymal Transition Induced by Transforming Growth Factor-β Signaling

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Published on: August 3, 2018

Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Protein complexes and interactions are vital for cellular processes.
Transforming growth factor beta (TGF-β) signaling is crucial and implicated in diseases.
Human genetic variations can alter protein function and cellular pathways.

Purpose of the Study:

To analyze human genetic variations in TGF-β signaling pathway proteins.
To identify variations with potential biological consequences.
To investigate the impact of nonsynonymous single nucleotide polymorphisms (nsSNPs) on protein function.

Main Methods:

In silico analysis of genetic variations in TGF-β pathway proteins.
Utilized dbSNP database for identifying nonsynonymous single nucleotide polymorphisms (nsSNPs).
Evaluated nsSNPs based on evolutionary conservation, domain location, and impact on functional sites.

Main Results:

Identified 118 validated nsSNPs across 63 proteins in the TGF-β pathway.
Found 31 nsSNPs at evolutionarily conserved residues.
Located 37 nsSNPs within functional protein domains/motifs and 46 nsSNPs predicted to alter functional motifs or phosphorylation sites.

Conclusions:

Human genetic variations within the TGF-β signaling pathway can affect protein function.
Identified nsSNPs provide candidates for experimental validation of their roles in cellular function and disease.
This research highlights the importance of studying genetic variations in signaling pathways.