ArticleHuman molecular genetics2011
A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 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
- Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome.Nature communications · 2025Article
- Generation of live mice from haploid ESCs with germline-DMR deletions or switch.Cell discovery · 2025Article
- Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome.Research square · 2024Article
- Novel epigenetic molecular therapies for imprinting disorders.Molecular psychiatry · 2023Review
- Conservation of Imprinting and Methylation ofAnimals : an open access journal from MDPI · 2021Article
- A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research.International journal of molecular sciences · 2021Review
- Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome.Neurobiology of learning and memory · 2019Review
- Epigenetic therapy of Prader-Willi syndrome.Translational research : the journal of laboratory and clinical medicine · 2019Review
- Application of droplet digital PCR in the analysis of genome integration and organization of the transgene in BAC transgenic mice.Scientific reports · 2018Article
- Pharmacological therapies for Angelman syndrome.Wiener medizinische Wochenschrift (1946) · 2017Review
- Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics.Diseases (Basel, Switzerland) · 2016Article
- Maternal transcription of non-protein coding RNAs from the PWS-critical region rescues growth retardation in mice.Scientific reports · 2016Article
- Snord116 is critical in the regulation of food intake and body weight.Scientific reports · 2016Article
- Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.Epigenetics · 2014Article
- Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus: A whisper with functional consequences.Rare diseases (Austin, Tex.) · 2013Article
- 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
- Temporal and developmental requirements for the Prader-Willi imprinting center.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders.Frontiers in genetics · 2012Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The human chromosomal 15q11-15q13 region is subject to both maternal and paternal genomic imprinting. Absence of paternal gene expression from this region results in Prader-Willi syndrome (PWS), while absence of maternal gene expression leads to Angelman syndrome. Transcription of paternally expressed genes in the region depends upon an imprinting center termed the PWS-IC. Imprinting defects in PWS can be caused by microdeletions and the smallest commonly deleted region indicates that the PWS-IC lies within a region of 4.3 kb. The function and location of the PWS-IC is evolutionarily conserved, but delineation of the PWS-IC in mouse has proven difficult. The first targeted mutation of the PWS-IC, a deletion of 35 kb spanning Snrpn exon 1, exhibited a complete PWS-IC deletion phenotype. Pups inheriting this mutation paternally showed a complete loss of paternal gene expression and died neonatally. A reported deletion of 4.8 kb showed only a reduction in paternal gene expression and incomplete penetrance of neonatal lethality, suggesting that some PWS-IC function had been retained. Here, we report that a 6 kb deletion spanning Snrpn exon 1 exhibits a complete PWS-IC deletion phenotype. Pups inheriting this mutation paternally lack detectable expression of all PWS genes and paternal silencing of Ube3a, exhibit maternal DNA methylation imprints at Ndn and Mkrn3 and suffer failure to thrive leading to a fully penetrant neonatal lethality.
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