Genomic Imprinting: Intricacies of Epigenetic Regulation in Clusters

Verona, Raluca; Mann, Mellissa R.W.; Bartolomei, Marisa S.

doi:10.1146/annurev.cellbio.19.111401.092717

Cited by 252 publications

(192 citation statements)

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“…Imprinted genes are regulated by imprinting control regions (ICRs) which are associated with blocks of tandem repeats and differential methylation (Hutter et al, 2006;Verona et al, 2003). We examined the published sequence for Sfmbt2 and found a CpG cluster near the transcriptional start site.…”

Section: Sfmbt2 Promoter Region Displays Maternal Methylation In Placmentioning

confidence: 99%

The PcG gene Sfmbt2 is paternally expressed in extraembryonic tissues

Kuzmin

Han

Golding

et al. 2008

Gene Expression Patterns

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Genomic imprinting has dramatic effects on placental development, as has been clearly observed in interspecific hybrid, somatic cell nuclear transfer, and uniparental embryos. In fact, the earliest defects in uniparental embryos are evident first in the extraembryonic trophoblast. We performed a microarray comparison of gynogenetic and androgenetic mouse blastocysts, which are predisposed to placental pathologies, to identify imprinted genes. In addition to identifying a large number of known imprinted genes, we discovered that the Polycomb group (PcG) gene Sfmbt2 is imprinted. Sfmbt2 is expressed preferentially from the paternal allele in early embryos, and in later stage extraembryonic tissues. A CpG island spanning the transcriptional start site is differentially methylated on the maternal allele in e14.5 placenta. Sfmbt2 is located on proximal chromosome 2, in a region known to be imprinted, but for which no genes had been identified until now. This possibly identifies a new imprinted domain within the murine genome. We further demonstrate that murine SFMBT2 protein interacts with the transcription factor YY1, similar to the Drosophila PHO-RC. KeywordsGenomic Imprinting; Sfmbt2; PcG gene; Extraembryonic tissues; placenta; MMU2; YY1; microarrays; uniparental embryos Results and DiscusssionThe role played by imprinted genes in placental development is gaining wider attention as the impact of imprinting disruptions on placental pathology is explored. Both hyper-and hypoplastic placentation are linked to imprinted gene function (Kanayama et al., 2002;Murdoch et al., 2006; reviewed in Kaneko-Ishino et al., 2003). The most dramatic example of this is diploid, uniparental embryos. Gynogenetic embryos (two maternal/no paternal genomes) and androgenetic embryos (two paternal/no maternal genomes) both exhibit defects in the earliest differentiated tissue in mammals, the extraembryonic trophoblast (Barton et al., 1984;McGrath and Solter, 1984;Mann, 2005). At mid-gestation, gynogenetic embryos possess only a few residual trophoblast giant cells while androgenetic embryos are characterized by a mass of hypertrophic trophoblast. These observations indicate that a suite of genes required * Corresponding author. s.varmuza@utoronto.ca; tel. 1-416-978-2759; FAX 1-416-978-8532. Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. NIH Public Access Author ManuscriptGene Expr Patterns. Author manuscript; available in PMC 2009 January 1. Published in final edited form as:Gene Expr Patterns. 2008 January ; 8(2): 107-116. NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manu...

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Section: Sfmbt2 Promoter Region Displays Maternal Methylation In Placmentioning

confidence: 99%

The PcG gene Sfmbt2 is paternally expressed in extraembryonic tissues

Kuzmin

Han

Golding

et al. 2008

Gene Expression Patterns

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“…Mouse studies have shown that the unmethylated maternal allele is bound by several copies of a zinc-finger protein called CTCF. (14) This creates a chromatin boundary, insulating the IGF2 gene from enhancers located downstream of H19. As a consequence, IGF2 is not expressed from the maternal allele.…”

Section: Introductionmentioning

confidence: 99%

“…This also ensures proper levels of expression at this important growthrelated domain. (14) Next to the IGF2-H19 domain lies the imprinted KCNQ1 domain (Fig. 1A).…”

Section: Introductionmentioning

confidence: 99%

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

2006

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“…First, imprinted genes tend to have a clustered distribution in mammalian (15,18,19) and plant genomes (20), with the mammalian clustering appearing to be conserved in vertebrate evolution (21). Second, imprinted genes appear to modulate a limited number of types of traits, with most genes having effects on growth (especially in relation to the demand for maternal provisioning, often via the placenta) and/or behaviors (17,22), with behavioral effects being largely associated with parental and social behaviors (13,(23)(24)(25)(26)(27).…”

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confidence: 99%

“…Imprinted genes are often coregulated (19) and tend to show coordinated expression, which provides a strong opportunity for selection to favor genetic coadaptation, where combinations of beneficially interacting alleles (i.e., alleles that "work well" together) are coinherited (40). That is, given the temporal and spatial coupling of imprinted gene expression there is ample opportunity for imprinted gene products to interact in their effects on fitness, which could lead to genetic coadaptation.…”

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confidence: 99%

Evolution of genomic imprinting as a coordinator of coadapted gene expression

Wolf

2013

Proc. Natl. Acad. Sci. U.S.A.

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Genomic imprinting is an epigenetic phenomenon in which the expression of a gene copy inherited from the mother differs from that of the copy inherited from the father. Many imprinted genes appear to be highly interconnected through interactions mediated by proteins, RNA, and DNA. These kinds of interactions often favor the evolution of genetic coadaptation, where beneficially interacting alleles evolve to become coinherited. Here I demonstrate theoretically that the presence of gene interactions that favor coadaptation can also favor the evolution of genomic imprinting. Selection favors genomic imprinting because it coordinates the coexpression of positively interacting alleles at different loci. Evolution is expected to proceed through a scenario where selection builds associations between beneficial combinations of alleles and, if one locus evolves to become imprinted, it leads to selection for its interacting partners to match its pattern of imprinting. This process should favor the evolution of physical linkage between interacting genes and therefore may help explain why imprinted genes tend to be found in clusters. The model suggests that, whereas some genes are expected to evolve their imprinting status because selection directly favors a specific pattern of parent-of-origin-dependent expression, other genes may evolve imprinting as a coevolutionary response to match the expression pattern of their interacting partners. As a result, some genes will show phenotypic effects consistent with the predictions of models for the evolution of genomic imprinting (e.g., conflict models), but other genes may not, having simply evolved imprinting to follow the lead of their interacting partners.

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Genomic Imprinting: Intricacies of Epigenetic Regulation in Clusters

Cited by 252 publications

References 113 publications

The PcG gene Sfmbt2 is paternally expressed in extraembryonic tissues

The PcG gene Sfmbt2 is paternally expressed in extraembryonic tissues

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

Evolution of genomic imprinting as a coordinator of coadapted gene expression

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