ArticleAmerican journal of human genetics1996
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers.
What it found
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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
82 citing papers in PubMed, 236 citations in OpenAlex.
- Advances and challenges of precision epigenetic therapy in treating genomic imprinting diseases.Translational pediatrics · 2026Review
- Embryo vitrification impacts learning and spatial memory by altering the imprinting genes expression level in the mouse offspring' hippocampus.Scientific reports · 2025Article
- Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons.Human molecular genetics · 2024Article
- Does SpermBiomedicines · 2024Review
- Epigenetics in rare neurological diseases.Frontiers in cell and developmental biology · 2024Review
- Neural EGFL-like 1, a craniosynostosis-related osteochondrogenic molecule, strikingly associates with neurodevelopmental pathologies.Cell & bioscience · 2023Article
- 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
- Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader-Willi Syndrome.Diagnostics (Basel, Switzerland) · 2023Article
- UsingRNA biology · 2023Article
- Prader-Willi and Angelman Syndromes: Mechanisms and Management.The application of clinical genetics · 2023Review
- Aberrant promoter methylation contributes to LRIG1 silencing in basal/triple-negative breast cancer.British journal of cancer · 2022Article
- Review
- Review
- The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique HomozygousGenes · 2021Review
- Regeneration linked miRNA modify tumor phenotype and can enforce multi-lineage growth arrest in vivo.Scientific reports · 2021Article
- A Comprehensive Review of Genetically Engineered Mouse Models for Prader-Willi Syndrome Research.International journal of molecular sciences · 2021Review
- Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array.Molecular cytogenetics · 2021Article
- Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations.Journal of cellular and molecular medicine · 2020Article
- Prader-Willi syndrome: reflections on seminal studies and future therapies.Open biology · 2020Review
- Polyhydramnios and abnormal foetal heart rate patterns in a foetus with Prader-Willi syndrome: A case report.Case reports in women's health · 2020Article
22 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
The human SNRPN (small nuclear ribonucleoprotein polypeptide N) gene is one of a gene family that encode proteins involved in pre-mRNA splicing and maps to the smallest deletion region involved in the Prader-Willi syndrome (PWS) within chromosome 15q11-q13. Paternal only expression of SNRPN has previously been demonstrated by use of cell lines from PWS patients (maternal allele only) and Angelman syndrome (AS) patients (paternal allele only). We have characterized two previously unidentified 5' exons of the SNRPN gene and demonstrate that exons -1 and 0 are included in the full-length transcript. This gene is expressed in a wide range of somatic tissues and at high, approximately equal levels in all regions of the brain. Both the first exon of SNRPN (exon -1) and the putative transcription start site are embedded within a CpG island. This CpG island is extensively methylated on the repressed maternal allele and is unmethylated on the expressed paternal allele, in a wide range of fetal and adult somatic cells. This provides a quick and highly reliable diagnostic assay for PWS and AS, which is based on DNA-methylation analysis that has been tested on > 100 patients in a variety of tissues. Conversely, several CpG sites approximately 22 kb downstream of the transcription start site in intron 5 are preferentially methylated on the expressed paternal allele in somatic tissues and male germ cells, whereas these same sites are unmethylated in fetal oocytes. These findings are consistent with a key role for DNA methylation in the imprinted inheritance and subsequent gene expression of the human SNRPN gene.
Indexed as
Identifiers
8571960PMC1914536W2994096458What OpenQuestion holds
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.