ArticleNucleic acids research2005
Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus.
Article in Nucleic acids research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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Who cites it
25 citing papers in PubMed, 47 citations in OpenAlex.
- Article
- Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome.Nature communications · 2025Article
- Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome.Research square · 2024Article
- An N-ethyl-N-Nitrosourea Mutagenesis Screen in Mice Reveals a Mutation inAnimals : an open access journal from MDPI · 2021Article
- Genomic imprinting in mouse blastocysts is predominantly associated with H3K27me3.Nature communications · 2021Article
- Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome.Frontiers in endocrinology · 2019Review
- ENHO, RXRA, and LXRA polymorphisms and dyslipidaemia, related comorbidities and survival in haemodialysis patients.BMC medical genetics · 2018Article
- Role of DNA methylation in imprinting disorders: an updated review.Journal of assisted reproduction and genetics · 2017Review
- A new pathway in the control of the initiation of puberty: the MKRN3 gene.Journal of molecular endocrinology · 2015Review
- Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.Epigenetics · 2014Article
- Regulatory elements associated with paternally-expressed genes in the imprinted murine Angelman/Prader-Willi syndrome domain.PloS one · 2013Article
- Recruitment of transcription complexes to enhancers and the role of enhancer transcription.Biology · 2012Article
- Molecular characterization of porcine NECD, SNRPN and UBE3A genes and imprinting status in the skeletal muscle of neonate pigs.Molecular biology reports · 2012Article
- An intronic MYLK variant associated with inflammatory lung disease regulates promoter activity of the smooth muscle myosin light chain kinase isoform.Journal of molecular medicine (Berlin, Germany) · 2012Article
- Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.PloS one · 2012Article
- A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center.Human molecular genetics · 2011Article
- Oncogenic potential of yin yang 1 mediated through control of imprinted genes.Critical reviews in oncogenesis · 2011Review
- Imprinted genes show unique patterns of sequence conservation.BMC genomics · 2010Article
- The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.Neurobiology of disease · 2010Review
- Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.Human molecular genetics · 2009Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
The imprinted SNRPN locus is a complex transcriptional unit that encodes the SNURF and SmN polypeptides as well as multiple non-coding RNAs. SNRPN is located within the Prader-Willi and Angelman syndrome (PWS/AS) region that contains multiple imprinted genes, which are coordinately regulated by a bipartite imprinting center (IC). The SNRPN 5' region co-localizes with the PWS-IC and contains two DNase I hypersensitive sites, DHS1 at the SNRPN promoter, and DHS2 within intron 1, exclusively on the paternally inherited chromosome. We have examined DHS1 and DHS2 to identify cis- and trans-acting regulatory elements within the endogenous SNRPN 5' region. Analysis of DHS1 by in vivo footprinting and chromatin immunoprecipitation identified allele-specific interaction with multiple regulatory proteins, including NRF-1, which regulates genes involved in mitochondrial and metabolic functions. DHS2 acted as an enhancer of the SNRPN promoter and contained a highly conserved region that showed allele-specific interaction with unphosphorylated RNA polymerase II, YY1, Sp1 and NRF-1, further suggesting a key role for NRF-1 in regulation of the SNRPN locus. We propose that one or more of the regulatory elements identified in this study may also contribute to PWS-IC function.
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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.