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Review
. 2020 Sep 17;11(9):1084.
doi: 10.3390/genes11091084.

Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development

Ekaterina N Tolmacheva  1 , Stanislav A Vasilyev  1 , Igor N Lebedev  1
Affiliations
Review

Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development

Ekaterina N Tolmacheva et al. Genes (Basel). .

Abstract

Genome stability is an integral feature of all living organisms. Aneuploidy is the most common cause of fetal death in humans. The timing of bursts in increased aneuploidy frequency coincides with the waves of global epigenetic reprogramming in mammals. During gametogenesis and early embryogenesis, parental genomes undergo two waves of DNA methylation reprogramming. Failure of these processes can critically affect genome stability, including chromosome segregation during cell division. Abnormal methylation due to errors in the reprogramming process can potentially lead to aneuploidy. On the other hand, the presence of an entire additional chromosome, or chromosome loss, can affect the global genome methylation level. The associations of these two phenomena are well studied in the context of carcinogenesis, but here, we consider the relationship of DNA methylation and aneuploidy in early human and mammalian ontogenesis. In this review, we link these two phenomena and highlight the critical ontogenesis periods and genome regions that play a significant role in human reproduction and in the formation of pathological phenotypes in newborns with chromosomal aneuploidy.

Keywords: DNA methylation; aneuploidy; epigenetic reprogramming; human embryogenesis.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Mechanisms and key players of DNA methylation and demethylation.
Figure 2
Figure 2
Mirrored dynamics of the levels of genome methylation and aneuploidy in human cells during ontogenesis.
Figure 3
Figure 3
Potential relationships between DNA methylation and aneuploidy.
See this image and copyright information in PMC

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