ArticleBiochimica et biophysica acta2014
PSF contacts exon 7 of SMN2 pre-mRNA to promote exon 7 inclusion.
Article in Biochimica et biophysica acta, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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
19 citing papers in PubMed, 26 citations in OpenAlex.
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- Regulation of Survival Motor Neuron Gene Expression by Calcium Signaling.International journal of molecular sciences · 2021Article
- Characteristics of circular RNAs generated by human Survival Motor Neuron genes.Cellular signalling · 2020Review
- Murine Long Noncoding RNA Morrbid Contributes in the Regulation of NRAS Splicing in Hepatocytes In Vitro.International journal of molecular sciences · 2020Article
- High-throughput analysis revealed mutations' diverging effects onRNA biology · 2019Article
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- Identification of conserved, primary sequence motifs that direct retrovirus RNA fate.Nucleic acids research · 2018Article
- Exploitation of nuclear functions by human rhinovirus, a cytoplasmic RNA virus.PLoS pathogens · 2018Article
- Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes.Advances in neurobiology · 2018Review
- An improved analysis methodology for translational profiling by microarray.RNA (New York, N.Y.) · 2017Article
- Splicing arrays reveal novel RBM10 targets, including SMN2 pre-mRNA.BMC molecular biology · 2017Article
- A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.European journal of human genetics : EJHG · 2016Article
- The DBHS proteins SFPQ, NONO and PSPC1: a multipurpose molecular scaffold.Nucleic acids research · 2016Article
- Caenorhabditis elegans NONO-1: Insights into DBHS protein structure, architecture, and function.Protein science : a publication of the Protein Society · 2015Article
- Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions.Annals of the New York Academy of Sciences · 2015Article
- Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art.Neuropathology and applied neurobiology · 2015Review
- Identification of Regulatory-RNAs for Alternative Splicing of Ron Proto-Oncogene.Journal of Cancer · 2015Article
- Article
- PSF: nuclear busy-body or nuclear facilitator?Wiley interdisciplinary reviews. RNAReview
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease and a leading cause of infant mortality. Deletions or mutations of SMN1 cause SMA, a gene that encodes a SMN protein. SMN is important for the assembly of Sm proteins onto UsnRNA to UsnRNP. SMN has also been suggested to direct axonal transport of β-actin mRNA in neurons. Humans contain a second SMN gene called SMN2 thus SMA patients produce some SMN but not with sufficient levels. The majority of SMN2 mRNA does not include exon 7. Here we show that increased expression of PSF promotes inclusion of exon 7 in the SMN2 whereas reduced expression of PSF promotes exon 7 skipping. In addition, we present evidence showing that PSF interacts with the GAAGGA enhancer in exon 7. We also demonstrate that a mutation in this enhancer abolishes the effects of PSF on exon 7 splicing. Furthermore we show that the RNA target sequences of PSF and tra2β in exon 7 are partially overlapped. These results lead us to conclude that PSF interacts with an enhancer in exon 7 to promote exon 7 splicing of SMN2 pre-mRNA.
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What 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.