Epigenetic Mosaicism in Genomic Imprinting Disorders

Abstract: Differential gene expression during development is maintained by complex regulatory epigenetic mechanisms that provide the formation of different specialized cell types. Subsequently, a multicellular organism is a mosaic of cells with differing epigenetic characteristics. It seems likely that exceeding the limits of normal epigenetic variability may cause the occurrence of pathological mosaic states in which one part of the cell population has a normal epigenotype, while the other part carries modified epigenetic information. In this review, using the genomic imprinting as a classical epigenetic phenomenon, for the first time, the prevalence of epigenetic mosaicism and the mechanisms of its origin, as well as its role in the etiology of hereditary disorders, determined by the dysfunction of imprinted genomic loci are summarized.

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