ArticleProceedings of the National Academy of Sciences of the United States of America2015
Angelman syndrome imprinting center encodes a transcriptional promoter.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 23 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
23 citing papers in PubMed, 40 citations in OpenAlex.
- Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.European journal of human genetics : EJHG · 2019Trial
- Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.Human genetics · 2022Review
- Epigenetics in Prader-Willi Syndrome.Frontiers in genetics · 2021Review
- Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.Human molecular genetics · 2020Article
- Detection of haplotype-dependent allele-specific DNA methylation in WGBS data.Nature communications · 2020Article
- Prader-Willi syndrome: reflections on seminal studies and future therapies.Open biology · 2020Review
- Review
- A human somatic cell culture system for modelling gene silencing by transcriptional interference.Heliyon · 2020Article
- Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.Nature reviews. Genetics · 2019Review
- Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.Clinical epigenetics · 2019Article
- A mouse model of Angelman syndrome imprinting defects.Human molecular genetics · 2019Article
- Enhancer-driven alternative promoters of imprinted genes.PloS one · 2018Article
- New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.European journal of human genetics : EJHG · 2017Article
- Pharmacological therapies for Angelman syndrome.Wiener medizinische Wochenschrift (1946) · 2017Review
- Transcription-driven DNA methylation setting on the mouse Peg3 locus.Epigenetics · 2017Article
- Angelman syndrome - insights into a rare neurogenetic disorder.Nature reviews. Neurology · 2016Review
- A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.European journal of human genetics : EJHG · 2016Article
- Alternative promoters of Peg3 with maternal specificity.Scientific reports · 2016Article
- Genomic Imprinting.Open access Macedonian journal of medical sciences · 2016Review
- Angelman Syndrome: A Case Report.Iranian journal of child neurology · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.