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Related Experiment Video

Updated: May 12, 2026

Immunostaining for DNA Modifications: Computational Analysis of Confocal Images

Immunostaining for DNA Modifications: Computational Analysis of Confocal Images

Published on: September 7, 2017

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus.

A T Hark¹, C J Schoenherr, D J Katz

¹Howard Hughes Medical Institute and Department of Molecular Biology, Princeton University, New Jersey 08544, USA.

|June 6, 2000

Summary

The imprinted-control region near H19 acts as a boundary, blocking gene interactions. CTCF binding to this region prevents gene silencing, but methylation disrupts this boundary function.

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Area of Science:

Genetics
Epigenetics
Genomic Imprinting

Background:

The Insulin-like growth factor 2 (Igf2) and H19 genes are subject to genomic imprinting, with differential silencing of maternal and paternal alleles.
This imprinting is regulated by an upstream imprinted-control region (ICR) critical for allele-specific gene expression.

Purpose of the Study:

To investigate the function of the H19 ICR in regulating Igf2 and H19 gene expression.
To determine the role of DNA methylation and CTCF binding in ICR-mediated gene regulation.

Main Methods:

Utilized transgenic mice and tissue culture models.
Assessed enhancer-blocking activity of the H19 ICR.
Investigated the binding of CTCF to the ICR and the effect of DNA methylation on binding and function.

Main Results:

Demonstrated that unmethylated H19 ICRs from mouse and human possess enhancer-blocking activity.
Identified CTCF binding sites within the ICR essential for this enhancer-blocking function.
Showed that DNA methylation abolishes CTCF binding and consequently the enhancer-blocking activity.

Conclusions:

The unmethylated ICR functions as a regulated chromatin boundary, mediated by CTCF binding.
DNA methylation disrupts CTCF binding, leading to the loss of boundary function and enabling paternal Igf2 expression.
This study presents the first example of a regulated vertebrate chromatin boundary involved in genomic imprinting.