Related Experiment Video

Updated: Aug 10, 2026

Spheroid Assay to Measure TGF-β-induced Invasion
09:18

Spheroid Assay to Measure TGF-β-induced Invasion

Published on: November 16, 2011

Analysis of TGF-beta type I receptor for mutations and polymorphisms in head and neck cancers

T J Knobloch1, M A Lynch, H Song

  • 1Division of Environmental Health Sciences, School of Public Health, College of Medicine and Public Health, The Ohio State University, Columbus, OH 43210, USA.

Mutation Research
|July 27, 2001
PubMed

Insights

Polymorphisms in the transforming growth factor-beta receptor-I (TbetaR-I) gene, particularly in the exon-1 microsatellite region, are associated with head and neck cancers. These genetic variations may lead to reduced sensitivity to TGF-beta growth inhibition, contributing to tumor development.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Transforming growth factor-beta receptor (TbetaR)-dependent signals regulate cell growth and differentiation.
  • Disruptions in TbetaR signaling are frequently observed in tumorigenesis.
  • Head and neck carcinomas often exhibit altered cellular signaling pathways.

Purpose of the Study:

  • To investigate genetic alterations in the TbetaR-I gene in head and neck carcinomas.
  • To identify potential tumor susceptibility alleles within the TbetaR-I gene.
  • To explore the association between TbetaR-I polymorphisms and head and neck cancer development.

Main Methods:

  • Analysis of the entire coding region and flanking introns of TbetaR-I in 30 head and neck carcinomas.
  • Utilized "Cold" Single-Strand Conformation Polymorphism (SSCP) and direct sequencing for mutation detection.
  • Identified and characterized sequence variations, including microsatellite repeats and deletions.

Main Results:

  • No somatic point mutations were detected in the TbetaR-I gene.
  • Fourteen polymorphic sequence changes were found in 13 (43%) of the samples.
  • Eight (27%) nucleotide alterations were identified as polymorphisms in the exon-1 (GCG)(9) microsatellite repeat, a known tumor susceptibility allele.
  • A nine base pair deletion was present in 23% of samples.
  • Six heterozygous polymorphisms were identified in intronic sequences.

Conclusions:

  • Exon-1 polymorphisms in the TbetaR-I (GCG)(9) microsatellite region are associated with head and neck cancers.
  • These polymorphisms may contribute to cancer development by impairing responsiveness to TGF-beta mediated growth inhibition.
  • The findings suggest a role for TbetaR-I genetic variations in head and neck tumorigenesis.

More Related Videos

Therapy Testing in a Spheroid-based 3D Cell Culture Model for Head and Neck Squamous Cell Carcinoma06:11

Therapy Testing in a Spheroid-based 3D Cell Culture Model for Head and Neck Squamous Cell Carcinoma

Published on: April 20, 2018

Studying TGF-β Signaling and TGF-β-induced Epithelial-to-mesenchymal Transition in Breast Cancer and Normal Cells06:54

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

Published on: October 27, 2020

Related Concept Videos

Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Small GTPases - Ras and Rho01:24

Small GTPases - Ras and Rho

Ras and Rho are small monomeric GTPases that act downstream of receptor tyrosine kinase (RTK) and regulate various cellular processes. These GTPases switch between active and inactive states by binding to guanine nucleotides.
Three regulatory proteins control their activity:
TGF - β Signaling Pathway01:16

TGF - β Signaling Pathway

The TGF-β signaling pathway regulates cell growth, differentiation, adhesion, motility, and development. TGF-β ligands that induce TGF-β signaling are synthesized in their latent form. Several proteases or cell surface receptors such as integrins act upon the latent form, releasing the active ligand. There are three types of mammalian TGF-βs: (TGF-β1, TGF-β2, and TGF-β3) that bind as homodimers or heterodimers to TGF-β receptors. The TGF-β receptors are of three kinds RI, RII, and RIII. The RI...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...