Results 1 to 10 of about 147,641 (117)
Splice site proximity influences alternative exon definition
RNA Biology, 2022 Alternative splicing enables higher eukaryotes to expand mRNA diversity from a finite number of genes through highly combinatorial splice site selection mechanisms that are influenced by the sequence of competing splice sites, cis-regulatory elements ...
Francisco Carranza +2 more
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A basic framework to explain splice-site choice in eukaryotes [PDF]
Nature CommunicationsChanges in splicing can mediate phenotypic variation, ranging from flowering time differences in plants to genetic diseases in humans. Splicing changes occur due to differences in splice-site strength, often influenced by genetic variation and the ...
Craig I. Dent +17 more
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A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis [PDF]
BMC Medical GenomicsBackground Weyers acrofacial dysostosis (WAD) is a rare autosomal dominant ciliopathy caused by heterozygous pathogenic variants in the EVC2 gene. The classic phenotype includes short stature, dental anomalies, and nail dysplasia.
Ai Chen +10 more
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Computational and Structural Biotechnology Journal, 2021 Codon degeneracy of amino acid sequences permits an additional “mRNP code” layer underlying the genetic code that is related to RNA processing. In pre-mRNA splicing, splice site usage is determined by both intrinsic strength and sequence context ...
Johannes Ptok +6 more
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Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals. [PDF]
PLoS Genetics, 2006 Splice site selection is a key element of pre-mRNA splicing. Although it is known to involve specific recognition of short consensus sequences by the splicing machinery, the mechanisms by which 5' splice sites are accurately identified remain ...
Keren Borensztajn +5 more
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Animal, Fungi, and Plant Genome Sequences Harbor Different Non-Canonical Splice Sites
Cells, 2020 Most protein-encoding genes in eukaryotes contain introns, which are interwoven with exons. Introns need to be removed from initial transcripts in order to generate the final messenger RNA (mRNA), which can be translated into an amino acid sequence ...
Katharina Frey, Boas Pucker
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m6A modification of U6 snRNA modulates usage of two major classes of pre-mRNA 5’ splice site
eLife, 2022 Alternative splicing of messenger RNAs is associated with the evolution of developmentally complex eukaryotes. Splicing is mediated by the spliceosome, and docking of the pre-mRNA 5’ splice site into the spliceosome active site depends upon pairing with ...
Matthew T Parker +11 more
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PLoS Genetics, 2022 Pre-mRNA splicing is an essential step of eukaryotic gene expression carried out by a series of dynamic macromolecular protein/RNA complexes, known collectively and individually as the spliceosome.
Jessie M N G L Suzuki +5 more
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Conserved and divergent signals in 5' splice site sequences across fungi, metazoa and plants.
PLoS Computational Biology, 2023 In eukaryotic organisms the ensemble of 5' splice site sequences reflects the balance between natural nucleotide variability and minimal molecular constraints necessary to ensure splicing fidelity.
Maximiliano S Beckel +3 more
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iMapSplice: Alleviating reference bias through personalized RNA-seq alignment. [PDF]
PLoS ONE, 2018 Genomic variants in both coding and non-coding sequences can have functionally important and sometimes deleterious effects on exon splicing of gene transcripts.
Xinan Liu, James N MacLeod, Jinze Liu
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