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Updated: Jul 7, 2026

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

Published on: March 29, 2019

Long-range gene control and genetic disease.

Dirk A Kleinjan¹, Laura A Lettice

¹MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.

Advances in Genetics

|February 20, 2008

Summary

Genetic diseases arise not only from gene mutations but also from disrupted gene expression regulation. Position effects, where chromosomal changes alter gene expression, cause disease by affecting gene regulation.

Area of Science:

Genetics
Molecular Biology
Genomic Regulation

Background:

Significant progress in identifying genetic causes of human diseases.
Focus has been on mutations within protein-coding genes.
Proper gene expression (spatial, temporal, quantitative) is crucial for health.

Purpose of the Study:

To review advances in understanding "position effect" as a cause of genetic disease.
To explore mechanisms underlying position effect-related diseases.
To connect these findings with genome organization and long-range gene expression control models.

Main Methods:

Review of recent scientific literature on position effects and genetic disease.
Analysis of disease cases linked to altered chromosomal environments.

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Synthesis of findings with current models of genome organization.

Main Results:

Genetic disease can result from disruptions in gene regulatory mechanisms, not just gene mutations.
"Position effect" describes how chromosomal alterations impact gene expression levels.
Advances illuminate mechanisms linking chromosomal environment to disease phenotypes.

Conclusions:

Disruption of gene expression regulation is a significant cause of genetic disease.
Position effects highlight the importance of the chromosomal environment for gene function.
Understanding these mechanisms is key to advancing models of genome organization and gene control.