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Updated: Oct 20, 2025
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
23.1K
Locus specific epigenetic modalities of random allelic expression imbalance
Lucile Marion-Poll1,2, Benjamin Forêt3, Dina Zielinski3,4
1Institut Curie, PSL Research University, CNRS UMR3215, INSERM U934, Paris, France. lucile.marion-poll@embl.de.
Nature Communications
|September 10, 2021
Summary
Most genes use both alleles, but some show random monoallelic expression (RME). This study found RME emerges during cell differentiation, impacting development and disease, offering new therapeutic avenues.
Area of Science:
- Genetics
- Epigenetics
- Developmental Biology
Background:
- Autosomal genes typically express from both alleles.
- Exceptions include imprinted genes and genes with random monoallelic expression (RME).
- The prevalence and mechanisms of RME remain debated.
Purpose of the Study:
- Investigate RME in F1 hybrid mouse cells.
- Define mechanisms of persistent monoallelic gene expression.
- Explore epigenetic regulation of RME.
Main Methods:
- Analysis of candidate RME genes in F1 hybrid mouse cells.
- Comparison of gene expression before and after differentiation.
- Assessment of allelic expression in over 200 clones derived from neuronal progenitor cells.
Main Results:
- Clonal monoallelic expression is absent in embryonic stem cells.
- High frequencies of monoallelic expression observed in neuronal progenitor cells.
- Uncovered gene-specific and epigenetically regulated modes of allelic expression.
Conclusions:
- Random monoallelic expression (RME) is dynamically regulated during cell differentiation.
- Epigenetic mechanisms govern gene-specific allelic expression.
- Non-canonical allelic regulation has implications for development, autosomal dominant disorders, and therapeutics.
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