ArticleNucleic acids research2000
Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA.
Article in Nucleic acids research, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 51 citations in OpenAlex.
- Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.Human genetics · 2022Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- The Influence of Post-Exercise Cold-Water Immersion on Adaptive Responses to Exercise: A Review of the Literature.Sports medicine (Auckland, N.Z.) · 2018Review
- Effects of mild cold shock (25°C) followed by warming up at 37°C on the cellular stress response.PloS one · 2013Article
- Cyclic stretch increases splicing noise rate in cultured human fibroblasts.BMC research notes · 2011Article
- Article
- Transposable elements in disease-associated cryptic exons.Human genetics · 2010Article
- A novel insertion variant of the human IL-23 receptor-alpha chain transcript.Genes and immunity · 2008Article
- Functional analysis of splicing mutations in exon 7 of NF1 gene.BMC medical genetics · 2007Article
- Identification of alternatively spliced mRNA variants related to cancers by genome-wide ESTs alignment.Oncogene · 2004Article
- Faithful expression of a tagged Fugu WT1 protein from a genomic transgene in zebrafish: efficient splicing of pufferfish genes in zebrafish but not mice.Nucleic acids research · 2003Article
- Ischemia induces a translocation of the splicing factor tra2-beta 1 and changes alternative splicing patterns in the brain.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2002Article
- Complex splicing pattern generates great diversity in human NF1 transcripts.BMC genomics · 2002Article
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Authors and funding
5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Alternative splicing is a regulatory process of gene expression based on the flexibility in the selection of splice sites. In this manuscript we present the characterisation of an alternative splicing of the NF1 pre-mRNA induced by cold-shock conditions. We demonstrate that the accuracy of the splicing mechanism was perturbed after keeping samples for a short period of time at room temperature, resulting in the insertion of a 31-bp cryptic exon between exons 4a and 4b of the NF1 mRNA. This alternative splicing is not cell type specific and is not induced by other stress conditions such as heat shock or hyper-osmolarity. The alternative spliced mRNA is efficiently transported to the cytoplasm and it is proven to belong to the poly A(+)mRNA fraction. Previous misleading interpretations about this transcript, together with our finding relating its presence to cold shock and not to the NF1 disease, strongly indicate that this phenomenon should be taken into account in genetic testing when RNA methodology is used for mutation detection. This is the first description of an alternative splicing induced by cold shock in a human pre-mRNA and should provide further insights into the factors that control alternative splicing.
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