Epigenetic discordance at imprinting control regions in twins

Abstract

Imprinting control regions are differentially methylated in a parent-of-origin-dependent manner and this methylation state is inherited through the germline. These regions control parent-specific monoallelic expression of their target genes. Genetically identical organisms show considerable variation in their epigenomes owing to environmental and stochastic influences creating fluctuations in phenotype. Monozygotic twin pairs discordant for imprinting disorders due to epigenetic changes at imprinting control regions are an example of phenotypic variation caused by extreme variations of the epigenome. Here, we discuss the within-pair epigenetic discordance at imprinted loci, both in phenotypically concordant and discordant monozygotic twin pairs.