Features and mechanisms of canonical and noncanonical genomic imprinting

Hanna, Courtney W.; Kelsey, Gavin

doi:10.1101/gad.348422.121

Cited by 45 publications

(60 citation statements)

References 114 publications

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“…Canonical genomic imprinting relies on allele-specific DNA methylation (see [56] for a recent review), and such mechanism was initially proposed to underlie iXCI as well [33][34][35]. Contrary to these early hypotheses, however, later studies with DNA methyltransferase maternal knockout embryos ruled out DNA methylation as having a role in setting the imprint [57].…”

Section: The Unexpected Outcome: a Non-canonical Maternal Imprintmentioning

confidence: 99%

Mechanisms of Choice in X-Chromosome Inactivation

Furlan

Galupa

2022

Cells

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Early in development, placental and marsupial mammals harbouring at least two X chromosomes per nucleus are faced with a choice that affects the rest of their lives: which of those X chromosomes to transcriptionally inactivate. This choice underlies phenotypical diversity in the composition of tissues and organs and in their response to the environment, and can determine whether an individual will be healthy or affected by an X-linked disease. Here, we review our current understanding of the process of choice during X-chromosome inactivation and its implications, focusing on the strategies evolved by different mammalian lineages and on the known and unknown molecular mechanisms and players involved.

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Section: The Unexpected Outcome: a Non-canonical Maternal Imprintmentioning

confidence: 99%

Mechanisms of Choice in X-Chromosome Inactivation

Furlan

Galupa

2022

Cells

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“…The KRAB-ZFPs are evolutionarily diverse proteins that protect against the insertion of retroviruses (Macfarlan et al, 2012;Rowe et al, 2013), demonstrating that another host defense mechanism against retroviruses also exists and is functional in the maintenance of genomic imprinting memories (Edwards et al, 2019;Ondičova et al, 2020;Hanna and Kelsey, 2021). Thus, accumulating evidence indicates a close relationship between genomic imprinting and the insertion of retroviruses and LTR retrotransposons, as originally proposed in the host defense hypothesis.…”

Section: Molecular Mechanisms Underlying Gdmr Maintenance In Pre-and ...mentioning

confidence: 91%

“…Recent work has shown that the gDMRs are established as a consequence of differential responses to the invading DNAs in the oocytes and prospermatogonia as well as to afford subsequent protection from DNA demethylation in preimplantation development (see the next section). Discovery of the oocyte-specific transcripts spanning the gDMRs has provided an important clue to the mechanism of the establishing of the maternal gDMRs (Chotalia et al, 2009;Veselovska et al, 2015;Smallwood et al, 2011;Hanna and Kelsey 2021). In oocytes, DNA methylation is exclusively on active gene body regions, including the maternally imprinted gDMRs (Kobayashi et al, 2012).…”

Section: Molecular Mechanisms Underlying the Establishment Of Differe...mentioning

confidence: 99%

The Evolutionary Advantage in Mammals of the Complementary Monoallelic Expression Mechanism of Genomic Imprinting and Its Emergence From a Defense Against the Insertion Into the Host Genome

Kaneko-Ishino

Ishino

2022

Front. Genet.

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In viviparous mammals, genomic imprinting regulates parent-of-origin-specific monoallelic expression of paternally and maternally expressed imprinted genes (PEGs and MEGs) in a region-specific manner. It plays an essential role in mammalian development: aberrant imprinting regulation causes a variety of developmental defects, including fetal, neonatal, and postnatal lethality as well as growth abnormalities. Mechanistically, PEGs and MEGs are reciprocally regulated by DNA methylation of germ-line differentially methylated regions (gDMRs), thereby exhibiting eliciting complementary expression from parental genomes. The fact that most gDMR sequences are derived from insertion events provides strong support for the claim that genomic imprinting emerged as a host defense mechanism against the insertion in the genome. Recent studies on the molecular mechanisms concerning how the DNA methylation marks on the gDMRs are established in gametes and maintained in the pre- and postimplantation periods have further revealed the close relationship between genomic imprinting and invading DNA, such as retroviruses and LTR retrotransposons. In the presence of gDMRs, the monoallelic expression of PEGs and MEGs confers an apparent advantage by the functional compensation that takes place between the two parental genomes. Thus, it is likely that genomic imprinting is a consequence of an evolutionary trade-off for improved survival. In addition, novel genes were introduced into the mammalian genome via this same surprising and complex process as imprinted genes, such as the genes acquired from retroviruses as well as those that were duplicated by retropositioning. Importantly, these genes play essential/important roles in the current eutherian developmental system, such as that in the placenta and/or brain. Thus, genomic imprinting has played a critically important role in the evolutionary emergence of mammals, not only by providing a means to escape from the adverse effects of invading DNA with sequences corresponding to the gDMRs, but also by the acquisition of novel functions in development, growth and behavior via the mechanism of complementary monoallelic expression.

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“…A classic example of this phenomenon is genomic imprinting, where a single parental allele, either the maternal or paternal, is programmed by the gametes to be transcribed in somatic cells of the offspring, while the other allele is silent. This group includes many genes, such as Igf2 and Snrpn, which appear to play some role in early embryonic growth control and have been found to be involved in a number of genetic diseases (Hanna and Kelsey, 2021).…”

Section: Monoallelic Expressionmentioning

confidence: 99%

Asynchronous Replication Timing: A Mechanism for Monoallelic Choice During Development

Bergman

Simon²,

Cedar

2021

Front. Cell Dev. Biol.

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Developmental programming is carried out by a sequence of molecular choices that epigenetically mark the genome to generate the stable cell types which make up the total organism. A number of important processes, such as genomic imprinting, selection of immune or olfactory receptors, and X-chromosome inactivation in females are dependent on the ability to stably choose one single allele in each cell. In this perspective, we propose that asynchronous replication timing (ASRT) serves as the basis for a sophisticated universal mechanism for mediating and maintaining these decisions.

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Features and mechanisms of canonical and noncanonical genomic imprinting

Cited by 45 publications

References 114 publications

Mechanisms of Choice in X-Chromosome Inactivation

Mechanisms of Choice in X-Chromosome Inactivation

The Evolutionary Advantage in Mammals of the Complementary Monoallelic Expression Mechanism of Genomic Imprinting and Its Emergence From a Defense Against the Insertion Into the Host Genome

Asynchronous Replication Timing: A Mechanism for Monoallelic Choice During Development

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