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Related Experiment Video

Updated: May 24, 2026

Generating CRISPR/Cas9 Mediated Monoallelic Deletions to Study Enhancer Function in Mouse Embryonic Stem Cells
11:31

Generating CRISPR/Cas9 Mediated Monoallelic Deletions to Study Enhancer Function in Mouse Embryonic Stem Cells

Published on: April 2, 2016

Autosomal monoallelic expression in the mouse.

Lillian M Zwemer1, Alexander Zak, Benjamin R Thompson

  • 1Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

Genome Biology
|February 22, 2012
PubMed
Summary

Random monoallelic expression, where only one copy of a gene is active, is widespread in mouse autosomes. This phenomenon, also seen in humans, can cause phenotypic variation beyond genetic differences.

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Last Updated: May 24, 2026

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Area of Science:

  • Genetics
  • Genomics
  • Epigenetics

Background:

  • Random monoallelic expression (RME) involves stochastic selection of either maternal or paternal alleles for gene expression.
  • This allele-specific expression pattern is stable and mitotically inherited.
  • RME is observed in X-chromosome genes and a subset of autosomal genes, primarily studied in humans.

Purpose of the Study:

  • To conduct a genome-wide analysis of random monoallelic expression in the mouse.
  • To compare RME patterns between mouse and human autosomal genes.

Main Methods:

  • Utilized high-density mouse genome polymorphism mapping arrays.
  • Assessed allele-specific expression in clonal cell lines from heterozygous mouse strains.

Main Results:

  • Over 1,300 autosomal genes were analyzed, with more than 10% exhibiting RME.
  • A significant overlap of autosomal genes with RME was found between mouse and human.
  • RME in mouse autosomes is widespread, lacks genomic coordination, and is cell-type specific, with some genes showing allelic skewing.

Conclusions:

  • Autosomal RME likely existed in the common ancestor of rodents and primates.
  • RME contributes to phenotypic variation independent of genotypic variation.
  • RME must be considered in genotype-phenotype correlation studies.