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Epigenetic Regulation Disturbances on Gene Expression in Imprinting Diseases

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Abstract—

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.

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ACKNOWLEDGMENTS

The authors are grateful to I.V. Bure for assistance in preparation of this paper.

Funding

This study was supported by the Russian Foundation for Basic Research, project no. 20-14-50138.

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  1. Institute of Molecular Medicine, Sechenov First Moscow State Medical University (Sechenov University), 119146, Moscow, Russia

    D. V. Zaletaev & M. V. Nemtsova

  2. Bochkov Research Centre for Medical Genetics, 115522, Moscow, Russia

    D. V. Zaletaev, M. V. Nemtsova & V. V. Strelnikov

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  1. D. V. Zaletaev
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Translated by M. Novikova

Abbreviations: lncRNA, Long Non-Coding RNA; UPD, Uniparental Disomy; AS-IC, Angelman Syndrome Imprinting Center; BP, Break Point; DMR, Differentially Methylated Regions; GOM, Gain of Methylation; IC, Imprinting Centre; LOM, Loss of Methylation; MLID, Multi-Locus Imprinting Disturbances; PWS-IC, Prader-Willi Syndrome Imprinting Center; snoRNA, small nucleolar RNA; miRNA, microRNA.

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Zaletaev, D.V., Nemtsova, M.V. & Strelnikov, V.V. Epigenetic Regulation Disturbances on Gene Expression in Imprinting Diseases. Mol Biol 56, 1–28 (2022). https://doi.org/10.1134/S0026893321050149

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