ArticlePLoS genetics2011
Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.
Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.
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Who cites it
58 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 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
- 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
- The superpowers of imprinting control regions.Genome research · 2026Review
- Review
- Epigenetics in evolution and adaptation to environmental challenges: pathways for disease prevention and treatment.Epigenomics · 2025Review
- Review
- Roles of endogenous retroviral elements in the establishment and maintenance of imprinted gene expression.Frontiers in cell and developmental biology · 2024Review
- Establishment of paternal methylation imprint at theScience advances · 2023Article
- Tissue-specific Grb10/Ddc insulator drives allelic architecture for cardiac development.Molecular cell · 2022Article
- Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.Human genetics · 2022Review
- Methylation status of hypothalamicFrontiers in endocrinology · 2022Article
- Genetic Studies on Mammalian DNA Methyltransferases.Advances in experimental medicine and biology · 2022Article
- Conservation of Imprinting and Methylation ofAnimals : an open access journal from MDPI · 2021Article
- Review
- Epigenetics in Prader-Willi Syndrome.Frontiers in genetics · 2021Review
- Maternal H3K27me3-dependent autosomal and X chromosome imprinting.Nature reviews. Genetics · 2020Review
- Prader-Willi syndrome: reflections on seminal studies and future therapies.Open biology · 2020Review
- The enigma of DNA methylation in the mammalian oocyte.F1000Research · 2020Review
- IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies.Advances in neurobiology · 2020Article
- A human somatic cell culture system for modelling gene silencing by transcriptional interference.Heliyon · 2020Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The Prader-Willi syndrome (PWS [MIM 17620]) and Angelman syndrome (AS [MIM 105830]) locus is controlled by a bipartite imprinting center (IC) consisting of the PWS-IC and the AS-IC. The most widely accepted model of IC function proposes that the PWS-IC activates gene expression from the paternal allele, while the AS-IC acts to epigenetically inactivate the PWS-IC on the maternal allele, thus silencing the paternally expressed genes. Gene order and imprinting patterns at the PWS/AS locus are well conserved from human to mouse; however, a murine AS-IC has yet to be identified. We investigated a potential regulatory role for transcription from the Snrpn alternative upstream exons in silencing the maternal allele using a murine transgene containing Snrpn and three upstream exons. This transgene displayed appropriate imprinted expression and epigenetic marks, demonstrating the presence of a functional AS-IC. Transcription of the upstream exons from the endogenous locus correlates with imprint establishment in oocytes, and this upstream exon expression pattern was conserved on the transgene. A transgene bearing targeted deletions of each of the three upstream exons exhibited loss of imprinting upon maternal transmission. These results support a model in which transcription from the Snrpn upstream exons directs the maternal imprint at the PWS-IC.
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Registered trials
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.