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Autosomal Monoallelic Expression

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Epigenetics and Complex Traits

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Abstract

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.

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Acknowledgements

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

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Authors and Affiliations

  1. Department of Cancer Biology, Dana-Farber Cancer Institute, 450 Brookline Ave, Boston, MA, 02115, USA

    Virginia Savova

  2. Department of Genetics, Harvard Medical School, 450 Brookline Ave, Boston, MA, 02115, USA

    Virginia Savova & Alexander A. Gimelbrant

  3. Department of Cancer Biology, Dana-Farber Cancer Institute, Smith Building, Room 922 A, 450 Brookline Ave., Boston, MA, 02115, USA

    Alexander A. Gimelbrant

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  1. Virginia Savova
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Correspondence to Alexander A. Gimelbrant .

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Editors and Affiliations

  1. Departments of Obstetrics and Gynecology and Human Genetics, McGill University, Montreal, Canada

    Anna K. Naumova

  2. Lady Davis Institute for Medical Research Centre for Clinical Epidemiology, Jewish General Hospital, Montreal, Canada

    Celia M.T. Greenwood

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Savova, V., Gimelbrant, A.A. (2013). Autosomal Monoallelic Expression. In: Naumova, A., Greenwood, C. (eds) Epigenetics and Complex Traits. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8078-5_6

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