Various AGC repeat numbers in the coding region of the human transcription factor gene E2F-4

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Updated: Oct 17, 2026

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
09:58

Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis

Published on: June 27, 2020

X Zhong, H Hemmi, J Koike

    Human Mutation
    |February 19, 2000
    PubMed

    Insights

    The E2F-4 gene

    Area of Science:

    • Molecular Biology
    • Cancer Genetics

    Background:

    • E2F transcription factors are crucial for DNA synthesis and cell cycle regulation.
    • Mutations in the E2F-4 gene's AGC triplet repeat are linked to colorectal cancers with microsatellite instability (MSI).

    Purpose of the Study:

    • To investigate the variation in the AGC triplet repeat number within the E2F-4 gene.
    • To determine if this variation represents a polymorphism and its potential role in loss of heterozygosity (LOH).

    Main Methods:

    • Analysis of AGC triplet repeat numbers in E2F-4 gene from tumor, normal mucosa, and healthy individual DNA samples.
    • Detection of loss of heterozygosity (LOH) at the E2F-4 locus in tumor tissues.

    Main Results:

    • A wider range of AGC repeat variants (5 variants, 8-17 repeats) was observed in healthy individuals and patient normal DNA.
    • The wild-type 13-repeat was consistently found.
    • Loss of heterozygosity (LOH) at the E2F-4 locus was detected in 25% of informative tumor cases.

    Conclusions:

    • The observed variation in E2F-4 AGC repeat number likely represents a common polymorphism.
    • This E2F-4 repeat variation may serve as a useful marker for detecting LOH in primary tumors.

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