Temporal and developmental requirements for the Prader–Willi imprinting center

DuBose, Amanda J.; Smith, Emily Y.; Johnstone, Karen A.; Resnick, James L.

doi:10.1073/pnas.1115057109

Cited by 13 publications

(12 citation statements)

References 37 publications

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“…Targeted mutations in mice confirm that the PWS-IC functions somatically, activates paternal gene expression, and is necessary to silence the paternal Ube3a allele (10)(11)(12)(13)(14). However, the absence of a conserved AS-SRO sequence in mice has stymied functional investigations into this element of the imprinting center.…”

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confidence: 99%

Angelman syndrome imprinting center encodes a transcriptional promoter

Lewis

Brant

Kramer

et al. 2014

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

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Clusters of imprinted genes are often controlled by an imprinting center that is necessary for allele-specific gene expression and to reprogram parent-of-origin information between generations. An imprinted domain at 15q11–q13 is responsible for both Angelman syndrome (AS) and Prader–Willi syndrome (PWS), two clinically distinct neurodevelopmental disorders. Angelman syndrome arises from the lack of maternal contribution from the locus, whereas Prader–Willi syndrome results from the absence of paternally expressed genes. In some rare cases of PWS and AS, small deletions may lead to incorrect parent-of-origin allele identity. DNA sequences common to these deletions define a bipartite imprinting center for the AS–PWS locus. The PWS–smallest region of deletion overlap (SRO) element of the imprinting center activates expression of genes from the paternal allele. The AS–SRO element generates maternal allele identity by epigenetically inactivating the PWS–SRO in oocytes so that paternal genes are silenced on the future maternal allele. Here we have investigated functional activities of the AS–SRO, the element necessary for maternal allele identity. We find that, in humans, the AS–SRO is an oocyte-specific promoter that generates transcripts that transit the PWS–SRO. Similar upstream promoters were detected in bovine oocytes. This result is consistent with a model in which imprinting centers become DNA methylated and acquire maternal allele identity in oocytes in response to transiting transcription.

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confidence: 99%

Angelman syndrome imprinting center encodes a transcriptional promoter

Lewis

Brant

Kramer

et al. 2014

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

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“…Other interesting questions that remain to be answered are whether TADs arise from gDMR-directed interactions or whether TADs support imprinted domains independent of the gDMR. The Snrpn ICR has been shown to be critical for maintenance of imprinted expression of genes within the domain in the preimplantation embryo, yet is dispensable for maintaining Peg12, Mkrn3, Magel2, and Ndn imprinted expression in the neonatal brain (Dubose et al 2012), supporting the latter. In this case, it is possible that at the Snrpn imprinted domain, TADs supported by LADs and LOCKs are sufficient to maintain paternal-specific expression in the neonatal brain.…”

Section: Resultsmentioning

confidence: 97%

“…Depletion of the Ube3a-as lncRNA via very large and small Snrpn/Ube3a-as promoter deletions or through truncation of the Ube3a-as transcript results in reactivation of the paternally-silenced Ube3a allele in neurons differentiated from ESCs and in the mouse brain in a dose-dependent manner (Bressler et al 2001;Chamberlain and Brannan 2001;Kantor et al 2004;Dubose et al 2011;Dubose et al 2012;Meng et al 2012Meng et al , 2013. Recent evidence suggests that Ube3a-as disrupts Ube3a transcription through a mechanism of transcriptional collision (Meng et al 2013).…”

Section: Tads At Imprinted Domainsmentioning

confidence: 97%

A role for chromatin topology in imprinted domain regulation

MacDonald

Sachani

White

et al. 2016

Biochem. Cell Biol.

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Recently, many advancements in genome-wide chromatin topology and nuclear architecture have unveiled the complex and hidden world of the nucleus, where chromatin is organized into discrete neighbourhoods with coordinated gene expression. This includes the active and inactive X chromosomes. Using X chromosome inactivation as a working model, we utilized publicly available datasets together with a literature review to gain insight into topologically associated domains, lamin-associated domains, nucleolar-associating domains, scaffold/matrix attachment regions, and nucleoporin-associated chromatin and their role in regulating monoallelic expression. Furthermore, we comprehensively review for the first time the role of chromatin topology and nuclear architecture in the regulation of genomic imprinting. We propose that chromatin topology and nuclear architecture are important regulatory mechanisms for directing gene expression within imprinted domains. Furthermore, we predict that dynamic changes in chromatin topology and nuclear architecture play roles in tissue-specific imprint domain regulation during early development and differentiation.

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“…Moreover, a recent report demonstrated that an enhancer associated with the T-cell-specific CD4 gene is required for initiating activation of the gene locus in undifferentiated cells that do not express the target gene, but is no longer required in differentiated cells that express the CD4 gene [80]. Likewise, DuBose et al [81] demonstrated that deletion of the SNRPN imprinted control region during early embryonic development causes imprinting defects of the associated genes; however, deletion of this element in adult brain cells has no effect on imprinted gene expression. These studies support a previous finding from the Schaffner laboratory showing that the B-cell-specific IgH enhancer is only transiently required for setting up the active state of the target gene [82].…”

Section: Poised Enhancers During Cellular Differentiationmentioning

confidence: 99%

Recruitment of Transcription Complexes to Enhancers and the Role of Enhancer Transcription

Stees

Varn

Huang

et al. 2012

Biology

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Enhancer elements regulate the tissue- and developmental-stage-specific expression of genes. Recent estimates suggest that there are more than 50,000 enhancers in mammalian cells. At least a subset of enhancers has been shown to recruit RNA polymerase II transcription complexes and to generate enhancer transcripts. Here, we provide an overview of enhancer function and discuss how transcription of enhancers or enhancer-generated transcripts could contribute to the regulation of gene expression during development and differentiation.

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Temporal and developmental requirements for the Prader–Willi imprinting center

Cited by 13 publications

References 37 publications

Angelman syndrome imprinting center encodes a transcriptional promoter

Angelman syndrome imprinting center encodes a transcriptional promoter

A role for chromatin topology in imprinted domain regulation

Recruitment of Transcription Complexes to Enhancers and the Role of Enhancer Transcription

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