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Mutations primarily alter the inclusion of alternatively spliced exons
bioRxiv, 2020 Genetic analyses and systematic mutagenesis have revealed that synonymous, non-synonymous and intronic mutations frequently alter the inclusion levels of alternatively spliced exons, consistent with the concept that altered splicing might be a common ...
Pablo Baeza-Centurion +3 more
semanticscholar +1 more source
Evolutionary perspective of Big tau structure: 4a exon variants of MAPT
Frontiers in Molecular Neuroscience, 2022 The MAPT gene encoding the microtubule-associated protein tau can generate multiple isoforms by alternative splicing giving rise to proteins which are differentially expressed in specific areas of the nervous system and at different developmental stages.
Itzhak Fischer
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Exon Skipping Is Correlated with Exon Circularization
Journal of Molecular Biology, 2015 Circular RNAs are found in a wide range of organisms and it has been proposed that they perform disparate functions. However, how RNA circularization is connected to alternative splicing remains largely unexplored. Here, we stimulated primary human endothelial cells with tumor necrosis factor α or tumor growth factor β, purified RNA, generated >2.4 ...
Kelly, S +3 more
openaire +4 more sources
A majority of m6A residues are in the last exons, allowing the potential for 3′ UTR regulation
Genes & Development, 2015 Ke et al. found that >70% of m6A residues are present in the 3′-most (last) exons, with a sharp rise within 150–400 nucleotides of the start of the last exon.
Shengdong Ke +14 more
semanticscholar +1 more source
Nature Genetics, 2019 While RNA-seq has enabled comprehensive quantification of alternative splicing, no correspondingly high-throughput assay exists for functionally interrogating individual isoforms.
James D. Thomas +12 more
semanticscholar +1 more source
Reciprocal intronic and exonic histone modification regions in humans. [PDF]
, 2010 While much attention has been focused on chromatin at promoters and exons, human genes are mostly composed of intronic sequences. Analyzing published surveys of nucleosomes and 41 chromatin marks in humans, we identified histone modifications ...
Guthrie, Christine +3 more
core +2 more sources
Identify alternative splicing events based on position-specific evolutionary conservation. [PDF]
PLoS ONE, 2008 The evolution of eukaryotes is accompanied by the increased complexity of alternative splicing which greatly expands genome information. One of the greatest challenges in the post-genome era is a complete revelation of human transcriptome with ...
Liang Chen, Sika Zheng
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Cell, 1991 Using a sensitive assay for RNA expression, we identified several abnormally spliced transcripts in which exons from a candidate tumor suppressor gene (DCC) were scrambled during the splicing process in vivo. Cloning and sequencing of PCR-amplified segments of the abnormally spliced transcripts showed that exons were joined accurately at consensus ...
J M, Nigro +7 more
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The importance of being divisible by three in alternative splicing [PDF]
, 2005 Alternative splicing events that are conserved in orthologous genes in different species are commonly viewed as reliable evidence of authentic, functionally significant alternative splicing events.
Ast, Gil, Magen, Alon
core +4 more sources
The importance of DNA methylation of exons on alternative splicing
RNA: A publication of the RNA Society, 2018 Alternative splicing (AS) contributes to proteome diversity. As splicing occurs cotranscriptionally, epigenetic determinants such as DNA methylation likely play a part in regulation of AS.
Ronna Shayevitch +3 more
semanticscholar +1 more source