Autosomal Monoallelic Expression



In mammals, relative expression of the maternal and paternal alleles of many genes is controlled by three types of epigenetic phenomena: X chromosome inactivation, imprinting, and mitotically stable autosomal monoallelic expression (MAE). MAE imposes a mitotically stable allelic imbalance in the expression of a significant fraction of human autosomal genes. Cells in the same individual make independent choices of active and inactive alleles, leading to remarkable epigenetic diversity between otherwise identical clonal lineages. Genes subject to MAE play critical roles in a variety of major disorders, including schizophrenia, Alzheimer’s disease, and cancer. In this chapter, we review the current state of understanding of MAE biology, and assess various implications of MAE for analysis of genotype–phenotype relationship.


Clonal Lineage Allelic Imbalance Autosomal Gene Monoallelic Expression Active Allele 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We thank Anwesha Nag for figure design, and Sebastien Vigneau and Gimelbrant lab members for stimulating discussions.


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Department of Cancer BiologyDana-Farber Cancer InstituteBostonUSA
  2. 2.Department of GeneticsHarvard Medical SchoolBostonUSA
  3. 3.Department of Cancer BiologyDana-Farber Cancer InstituteBostonUSA

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