Epigenetic regulation is hereditary and non-hereditary changes in the expression of a particular gene without any corresponding structural changes in its nucleotide sequence. Genomic imprinting is an epigenetic mechanism for regulating the expression of homologous genes depending on parental origin, i.e., they are expressed monoallelically in the mammalian diploid cell. Being genetically imprinted, only the maternal or only the paternal genome is unable to ensure normal embryonic development. The most studied epigenetic modification, which plays one of the main roles in the maintenance of imprinting processes, is the specific methylation of cytosine in CpG-dinucleotides. All known imprinted genes contain differential DNA methylation regions on homologous parent chromosomes, which are necessary for their monoallelic expression. However, it is now known that not only DNA methylation, but chromatin remodeling, histone modifications, and non-coding RNAs also ensure the proper functioning of imprinted genes in the human body. Structural and functional disturbances of epigenetic mechanisms lead to imprinting diseases.
Keywords: abnormal DNA methylation; differentially methylated regions; epigenetic regulation of gene expression; epimutations; imprinting center; imprinting diseases; uniparental disomy.