Results 1 to 10 of about 143,230 (264)

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, Hossein Shenasa, Klemens J. Hertel   +2 more
doaj   +2 more sources

A basic framework to explain splice-site choice in eukaryotes [PDF]

Nature Communications
Changes 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, Stefan Prodic, Aiswarya Balakrishnan, Aaryan Chhabra, James D. G. Georges, Sourav Mukherjee, Jordyn Coutts, Michael Gitonobel, Rucha D. Sarwade, Joseph Rosenbluh, Mauro D’Amato, Partha P. Das, Ya-Long Guo, Alexandre Fournier-Level, Richard Burke, Sridevi Sureshkumar, David Powell, Sureshkumar Balasubramanian   +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 Genomics
Background 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, Wenwen Zhang, Pingping Long, Ximin Chen, Ayuan Zhang, Hui Zhu, Lan Zeng, Fu Xiong, Jin Wang, Shuyao Zhu, Ping Zhou   +10 more
doaj   +2 more sources

Impact of U2-type introns on splice site prediction in A. thaliana species using deep learning [PDF]

BMC Bioinformatics
Background Splice site prediction in plant genomes poses substantial challenges that can be addressed using deep learning models. U2-type introns are especially useful for such studies given their ubiquity in plant genomes and the availability of rich ...
Espoir Kabanga, Seonil Jee, Soeun Yun, Stephen Depuydt, Arnout Van Messem, Wesley De Neve   +5 more
doaj   +2 more sources

Modifying splice site usage with ModCon: Maintaining the genetic code while changing the underlying mRNP code

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, Lisa Müller, Philipp Niklas Ostermann, Anastasia Ritchie, Alexander T. Dilthey, Stephan Theiss, Heiner Schaal   +6 more
doaj   +1 more source

Genomic splice-site analysis reveals frequent alternative splicing close to the dominant splice site [PDF]

RNA, 2006
Alternative pre-mRNA splicing may be the most efficient and widespread mechanism to generate multiple protein isoforms from single genes. Here, we describe the genomic analysis of one of the most frequent types of alternative pre-mRNA splicing, alternative 5′- and 3′-splice-site selection.
Dou, Yimeng, Fox-Walsh, Kristi L, Baldi, Pierre F, Hertel, Klemens J   +3 more
openaire   +4 more sources

Delay in Synthesis of the 3′ Splice Site Promotes trans-Splicing of the Preceding 5′ Splice Site [PDF]

Molecular Cell, 2005
Premessenger RNA (pre-mRNA) splicing can occur within an individual pre-mRNA (cis-splicing) or between separate pre-mRNAs (trans-splicing). Although a number of examples of mammalian trans-splicing have been reported, the molecular mechanisms involved are poorly understood.
Takahara, Terunao, Tasic, Bosiljka, Maniatis, Tom, Akanuma, Hiroshi, Yanagisawa, Shuichi   +4 more
openaire   +2 more sources

Alternative splicing regulation at tandem 3' splice sites [PDF]

Nucleic Acids Research, 2006
Alternative splicing (AS) constitutes a major mechanism creating protein diversity in humans. Previous bioinformatics studies based on expressed sequence tag and mRNA data have identified many AS events that are conserved between humans and mice.
Akerman, Martin, Mandel-Gutfreund, Yael
openaire   +2 more sources

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, Marie-Laure Sobrier, Philippe Duquesnoy, Anne-Marie Fischer, Jacqueline Tapon-Bretaudière, Serge Amselem   +5 more
doaj   +1 more source

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
doaj   +1 more source