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Non-coding RNAs associated with Prader-Willi Syndrome regulate transcription of neurodevelopmental genes in human induced pluripotent stem cells
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Sledziowska, Monika, Winczura , Kinga, Jones, Matt, Almaghrabi , Ruba, Mischo, Hannah, Hebenstreit, Daniel, Garcia , Paloma and Grzechnik , Pawel (2023) Non-coding RNAs associated with Prader-Willi Syndrome regulate transcription of neurodevelopmental genes in human induced pluripotent stem cells. Human Molecular Genetics, 32 (4). pp. 608-620. doi:10.1093/hmg/ddac228 ISSN 0964-6906.
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WRAP-Non-coding-RNAs-Prader-Willi-syndrome-regulate-transcription-neurodevelopmental-genes-human-pluripotent-tem cells -22.pdf - Accepted Version Embargoed item. Restricted access to Repository staff only - Requires a PDF viewer. Download (4Mb) |
Official URL: https://doi.org/10.1093/hmg/ddac228
Abstract
Mutations and aberrant gene expression during cellular differentiation lead to neurodevelopmental disorders, such as Prader-Willi syndrome (PWS) which results from the deletion of an imprinted locus on paternally inherited chromosome 15. We analysed chromatin-associated RNA in human induced pluripotent cells (iPSCs) upon depletion of hybrid small nucleolar long non-coding RNAs (sno-lncRNAs) and 5’ snoRNA capped and polyadenylated long non-coding RNAs (SPA-lncRNAs) transcribed from the locus deleted in PWS. We found that rapid ablation of these lncRNAs affects transcription of specific gene classes. Downregulated genes contribute to neurodevelopment and neuronal maintenance while genes that are upregulated are predominantly involved in the negative regulation of cellular metabolism and apoptotic processes. Our data reveal the importance of SPA-lncRNAs and sno-lncRNAs in controlling gene expression in iPSCs and provide a platform for synthetic experimental approaches in PWS studies. We conclude that ncRNAs transcribed from the PWS locus are critical regulators of a transcriptional signature, which is important for neuronal differentiation and development.
Item Type: | Journal Article | ||||||||||||||||||||||||||||||
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Subjects: | Q Science > QH Natural history Q Science > QR Microbiology R Medicine > RJ Pediatrics |
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Divisions: | Faculty of Science, Engineering and Medicine > Science > Life Sciences (2010- ) | ||||||||||||||||||||||||||||||
Library of Congress Subject Headings (LCSH): | Ribonucleases , Prader-Willi syndrome, Human chromosome 15 -- Abnormalities , Gene expression, Genetic regulation, Cell differentiation, Embryonic stem cells | ||||||||||||||||||||||||||||||
Journal or Publication Title: | Human Molecular Genetics | ||||||||||||||||||||||||||||||
Publisher: | Oxford University Press | ||||||||||||||||||||||||||||||
ISSN: | 0964-6906 | ||||||||||||||||||||||||||||||
Official Date: | 15 February 2023 | ||||||||||||||||||||||||||||||
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Volume: | 32 | ||||||||||||||||||||||||||||||
Number: | 4 | ||||||||||||||||||||||||||||||
Page Range: | pp. 608-620 | ||||||||||||||||||||||||||||||
DOI: | 10.1093/hmg/ddac228 | ||||||||||||||||||||||||||||||
Status: | Peer Reviewed | ||||||||||||||||||||||||||||||
Publication Status: | Published | ||||||||||||||||||||||||||||||
Access rights to Published version: | Open Access (Creative Commons) | ||||||||||||||||||||||||||||||
Date of first compliant deposit: | 5 September 2022 | ||||||||||||||||||||||||||||||
Date of first compliant Open Access: | 1 November 2022 | ||||||||||||||||||||||||||||||
RIOXX Funder/Project Grant: |
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