ArticleThe EMBO journal2002
The imprinting mechanism of the Prader-Willi/Angelman regional control center.
Article in The EMBO journal, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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
33 citing papers in PubMed, 95 citations in OpenAlex.
- Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing.Cell genomics · 2025Article
- [Recent advances in the genetic etiology of central precocious puberty].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review.The Journal of clinical endocrinology and metabolism · 2023Review
- Hormonal Imbalances in Prader-Willi and Schaaf-Yang Syndromes Imply the Evolution of Specific Regulation of Hypothalamic Neuroendocrine Function in Mammals.International journal of molecular sciences · 2023Review
- Inference of putative cell-type-specific imprinted regulatory elements and genes during human neuronal differentiation.Human molecular genetics · 2023Article
- Review
- The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique HomozygousGenes · 2021Review
- GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.European journal of endocrinology · 2020Review
- Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes.SAGE open medicine · 2019Review
- Role of DNA methylation in imprinting disorders: an updated review.Journal of assisted reproduction and genetics · 2017Review
- Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase GeneFrontiers in cellular neuroscience · 2017Review
- Maintenance of Epigenetic Information.Cold Spring Harbor perspectives in biology · 2016Review
- Long noncoding RNAs in imprinting and X chromosome inactivation.Biomolecules · 2014Review
- Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain.PloS one · 2013Article
- Mechanisms of activation of the paternally expressed genes by the Prader-Willi imprinting center in the Prader-Willi/Angelman syndromes domains.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- An unexpected function of the Prader-Willi syndrome imprinting center in maternal imprinting in mice.PloS one · 2012Article
- Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.Trends in neurosciences · 2011Review
- Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Distinguishing epigenetic marks of developmental and imprinting regulation.Epigenetics & chromatin · 2010Article
- Protein-binding elements establish in the oocyte the primary imprint of the Prader-Willi/Angelman syndromes domain.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 2 Mb domain on chromosome 15q11-q13 that carries the imprinted genes involved in Prader-Willi (PWS) and Angelman (AS) syndromes is under the control of an imprinting center comprising two regulatory regions, the PWS-SRO located around the SNRPN promoter and the AS-SRO located 35 kb upstream. Here we describe the results of an analysis of the epigenetic features of these two sequences and their interaction. The AS-SRO is sensitive to DNase I, and packaged with acetylated histone H4 and methylated histone H3(K4) only on the maternal allele, and this imprinted epigenetic structure is maintained in dividing cells despite the absence of clearcut differential DNA methylation. Genetic analysis shows that the maternal AS-SRO is essential for setting up the DNA methylation state and closed chromatin structure of the neighboring PWS-SRO. In contrast, the PWS-SRO has no influence on the epigenetic features of the AS-SRO. These results suggest a stepwise, unidirectional program in which structural imprinting at the AS-SRO brings about allele-specific repression of the maternal PWS-SRO, thereby preventing regional activation of genes on this allele.
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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.