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[Epigenetic Regulation Disturbances on Gene Expression in Imprinting Diseases]
D V Zaletaev1,2,3, M V Nemtsova1,2, V V Strelnikov2
1Institute of Molecular Medicine, Sechenov First Moscow State Medical University (Sechenov University), Moscow, 119146 Russia.
Molekuliarnaia Biologiia
|January 27, 2022
Summary
Genomic imprinting, an epigenetic process, regulates gene expression based on parental origin. Disturbances in these mechanisms, including DNA methylation and chromatin remodeling, can cause imprinting diseases.
Area of Science:
- Genetics
- Epigenetics
- Developmental Biology
Background:
- Epigenetic regulation involves heritable gene expression changes without altering DNA sequence.
- Genomic imprinting is a key epigenetic mechanism where genes are expressed based on parental origin, crucial for mammalian development.
- Imprinted genes are expressed monoallelically, meaning only the maternal or paternal copy is active.
Purpose of the Study:
- To explore the multifaceted epigenetic mechanisms underlying genomic imprinting.
- To highlight the role of DNA methylation and other epigenetic modifications in imprinting.
- To understand the consequences of epigenetic disturbances in imprinting.
Main Methods:
- Review of established epigenetic modifications, focusing on DNA methylation.
- Analysis of chromatin remodeling, histone modifications, and non-coding RNAs in imprinting.
- Examination of the necessity of differential DNA methylation regions for monoallelic expression.
Main Results:
- DNA methylation of cytosine in CpG dinucleotides is a primary epigenetic modification maintaining imprinting.
- Differential DNA methylation regions on homologous chromosomes are essential for the monoallelic expression of imprinted genes.
- Beyond DNA methylation, chromatin remodeling, histone modifications, and non-coding RNAs also contribute to proper imprinted gene function.
Conclusions:
- Genomic imprinting relies on a complex interplay of epigenetic mechanisms, not solely DNA methylation.
- Proper functioning of imprinted genes is vital for normal embryonic development.
- Disruptions in epigenetic regulation of imprinting can lead to imprinting diseases.
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