Autosomal monoallelic expression

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.