ArticleHuman molecular genetics2014
Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 82 citations in OpenAlex.
- SMCHD1 is a target for gene activation therapy to treat Prader-Willi syndrome.Science advances · 2026Article
- Rescue of imprinted genes by epigenome editing in human cellular models of Prader-Willi syndrome.Nature communications · 2025Article
- Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing.Cell genomics · 2025Article
- SETDB1 amplification in osteosarcomas: Insights from its role in healthy tissues and other cancer types.Oncotarget · 2025Review
- MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.Developmental medicine and child neurology · 2025Review
- Identifying key underlying regulatory networks and predicting targets of orphan C/D box SNORD116 snoRNAs in Prader-Willi syndrome.Nucleic acids research · 2024Article
- RNAi Knockdown ofGenes · 2024Article
- Activation of the imprinted Prader-Willi Syndrome locus by CRISPR-based epigenome editing.bioRxiv : the preprint server for biology · 2024Article
- Epigenetics in rare neurological diseases.Frontiers in cell and developmental biology · 2024Review
- Identifying key underlying regulatory networks and predicting targets of orphan C/D boxbioRxiv : the preprint server for biology · 2023Article
- Neurologic orphan diseases: Emerging innovations and role for genetic treatments.World journal of experimental medicine · 2023Review
- The emerging role of snoRNAs in human disease.Genes & diseases · 2023Review
- Article
- Promising therapeutic aspects in human genetic imprinting disorders.Clinical epigenetics · 2022Review
- Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes.Human genetics · 2022Review
- Proteins and proteases of Prader-Willi syndrome: a comprehensive review and perspectives.Bioscience reports · 2022Review
- Phylogenetic and Molecular Analyses Identify SNORD116 Targets Involved in the Prader-Willi Syndrome.Molecular biology and evolution · 2022Article
- Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome.Epigenetics · 2021Article
- Identifying regulators of parental imprinting by CRISPR/Cas9 screening in haploid human embryonic stem cells.Nature communications · 2021Article
- Structure, Activity and Function of the SETDB1 Protein Methyltransferase.Life (Basel, Switzerland) · 2021Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
Abstract
Prader-Willi syndrome (PWS), a disorder of genomic imprinting, is characterized by neonatal hypotonia, hypogonadism, small hands and feet, hyperphagia and obesity in adulthood. PWS results from the loss of paternal copies of the cluster of SNORD116 C/D box snoRNAs and their host transcript, 116HG, on human chromosome 15q11-q13. We have investigated the mechanism of repression of the maternal SNORD116 cluster and 116HG. Here, we report that the zinc-finger protein ZNF274, in association with the histone H3 lysine 9 (H3K9) methyltransferase SETDB1, is part of a complex that binds to the silent maternal but not the active paternal alleles. Knockdown of SETDB1 in PWS-specific induced pluripotent cells (iPSCs) causes a decrease in the accumulation of H3K9 trimethylation (H3K9me3) at 116HG and corresponding accumulation of the active chromatin mark histone H3 lysine 4 dimethylation (H3K4me2). We also show that upon knockdown of SETDB1 in PWS-specific iPSCs, expression of maternally silenced 116HG RNA is partially restored. SETDB1 knockdown in PWS iPSCs also disrupts DNA methylation at the PWS-IC where a decrease in 5-methylcytosine is observed in association with a concomitant increase in 5-hydroxymethylcytosine. This observation suggests that the ZNF274/SETDB1 complex bound to the SNORD116 cluster may protect the PWS-IC from DNA demethylation during early development. Our findings reveal novel epigenetic mechanisms that function to repress the maternal 15q11-q13 region.
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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.