Epigenetic Mosaicism in Genomic Imprinting Disorders


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Resumo

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.

Sobre autores

E. Sazhenova

Research Institute of Medical Genetics, Tomsk National Research Medical Center,
Russian Academy of Sciences

Autor responsável pela correspondência
Email: elena.sazhenova@medgenetics.ru
Rússia, Tomsk, 634050

I. Lebedev

Research Institute of Medical Genetics, Tomsk National Research Medical Center,
Russian Academy of Sciences

Email: elena.sazhenova@medgenetics.ru
Rússia, Tomsk, 634050

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