ArticleProceedings of the National Academy of Sciences of the United States of America2012
Mechanisms of activation of the paternally expressed genes by the Prader-Willi imprinting center in the Prader-Willi/Angelman syndromes domains.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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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
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Recommendations for the investigation of animal models of Prader-Willi syndrome.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Guideline
- The superpowers of imprinting control regions.Genome research · 2026Review
- Perinatal Lead (Pb) Exposure Increases Mouse Embryonic Weight and Alters Neuronal Gene Expression.bioRxiv : the preprint server for biology · 2025Article
- Imprinted Long Non-Coding RNAs in Mammalian Development and Disease.International journal of molecular sciences · 2023Review
- Widespread allele-specific topological domains in the human genome are not confined to imprinted gene clusters.Genome biology · 2023Article
- A review of the genetics and epigenetics of central precocious puberty.Frontiers in endocrinology · 2022Review
- A bipartite element with allele-specific functions safeguards DNA methylation imprints at the Dlk1-Dio3 locus.Developmental cell · 2021Article
- Conservation of Imprinting and Methylation ofAnimals : an open access journal from MDPI · 2021Article
- The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique HomozygousGenes · 2021Review
- Prader-Willi syndrome: reflections on seminal studies and future therapies.Open biology · 2020Review
- The powerful world of antisense oligonucleotides: From bench to bedside.Wiley interdisciplinary reviews. RNA · 2020Review
- 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
- Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer.Clinical epigenetics · 2018Article
- Placental, Matrilineal, and Epigenetic Mechanisms Promoting Environmentally Adaptive Development of the Mammalian Brain.Neural plasticity · 2016Review
- Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23.American journal of human genetics · 2015Article
- Aberrant methylation of imprinted genes is associated with negative hormone receptor status in invasive breast cancer.International journal of cancer · 2015Article
- Epigenetic regulation of Newborns' imprinted genes related to gestational growth: patterning by parental race/ethnicity and maternal socioeconomic status.Journal of epidemiology and community health · 2015Article
- Genomic imprinting, action, and interaction of maternal and fetal genomes.Proceedings of the National Academy of Sciences of the United States of America · 2015Review
- Epigenetic changes in the developing brain: Effects on behavior.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- A new pathway in the control of the initiation of puberty: the MKRN3 gene.Journal of molecular endocrinology · 2015Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Prader-Willi syndrome/Angelman syndrome (PWS/AS) imprinted domain is regulated by a bipartite imprinting control center (IC) composed of a sequence around the SNRPN promoter (PWS-IC) and a 880-bp sequence located 35 kb upstream (AS-IC). The AS-IC imprint is established during gametogenesis and confers repression upon PWS-IC on the maternal allele. Mutation at PWS-IC on the paternal allele leads to gene silencing across the entire PWS/AS domain. This silencing implies that PWS-IC functions on the paternal allele as a bidirectional activator. Here we examine the mechanism by which PWS-IC activates the paternally expressed genes (PEGs) using transgenes that include the PWS-IC sequence in the presence or absence of AS-IC and NDN, an upstream PEG, as an experimental model. We demonstrate that PWS-IC is in fact an activator of NDN. This activation requires an unmethylated PWS-IC in the gametes and during early embryogenesis. PWS-IC is dispensable later in development. Interestingly, a similar activation of a nonimprinted gene (APOA1) was observed, implying that PWS-IC is a universal activator. To decipher the mechanism by which PWS-IC confers activation of remote genes, we performed methylated DNA immunoprecipitation (MeDIP) array analysis on lymphoblast cell lines that revealed dispersed, rather than continued differential methylation. However, chromatin conformation capture (3c) experiments revealed a physical interaction between PWS-IC and the PEGs, suggesting that activation of PEGs may require their proximity to PWS-IC.
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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.