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The unusual gene architecture of polyubiquitin is created by dual-specific splice sites
BackgroundThe removal of introns occurs through the splicing of a 5′ splice site (5′ss) with a 3′ splice site (3′ss). These two elements are...
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Splice-disrupt genomic variants in prostate cancer
BackgroundSplice-disrupt genomic variants are one of the causes of cancer-causing errors in gene expression. Little is known about splice-disrupt...
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Transcription Factors and Splice Factors—Interconnected Regulators of Stem Cell Differentiation
Purpose of ReviewThe underlying molecular mechanisms that direct stem cell differentiation into fully functional, mature cells remain an area of...
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Uncovering a multitude of stage-specific splice variants and putative protein isoforms generated along mouse spermatogenesis
BackgroundMammalian testis is a highly complex and heterogeneous tissue. This complexity, which mostly derives from spermatogenic cells, is reflected...
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Map** intron retention events contributing to complex traits using splice quantitative trait locus
BackgroundAlternative splicing (AS) of mRNA plays an important roles in transcriptome diversity, involving regulation of plant growth and stress...
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Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites
Among alternative splicing events in the human transcriptome, tandem NAGNAG acceptor splice sites represent an appreciable proportion. Both proximal...
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Hetero-pentamerization determines mobility and conductance of Glycine receptor α3 splice variants
Glycine receptors (GlyRs) are ligand-gated pentameric chloride channels in the central nervous system. GlyR-α3 is a possible target for chronic pain...
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Specific splice junction detection in single cells with SICILIAN
Precise splice junction calls are currently unavailable in scRNA-seq pipelines such as the 10x Chromium platform but are critical for understanding...
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Splicing regulation through biomolecular condensates and membraneless organelles
Biomolecular condensates, sometimes also known as membraneless organelles (MLOs), can form through weak multivalent intermolecular interactions of...
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Map** splice QTLs reveals distinct transcriptional and post-transcriptional regulatory variation of gene expression and identifies putative alternative splicing variation mediating complex trait variation in pigs
BackgroundAlternative splicing is an important step in gene expression, generating multiple isoforms for the same genes and greatly expanding the...
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The Grb2 splice variant, Grb3-3, is a negative regulator of RAS activation
Activation of RAS is crucial in driving cellular outcomes including proliferation, differentiation, migration and apoptosis via the MAPK pathway....
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Nox5: Molecular Regulation and Pathophysiology
Nox5 is considered to be the precursor NADPH oxidase in the evolution of the Noxs and is the most ancient member of the Nox family. It is widely...
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A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review
Intellectual disability (ID) is a highly heterogeneous disorder, affecting 1–3% of the world’s population, which is associated with a significant...
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Co-transcriptional gene regulation in eukaryotes and prokaryotes
Many steps of RNA processing occur during transcription by RNA polymerases. Co-transcriptional activities are deemed commonplace in prokaryotes, in...
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SPLICE-q: a Python tool for genome-wide quantification of splicing efficiency
BackgroundIntrons are generally removed from primary transcripts to form mature RNA molecules in a post-transcriptional process called splicing. An...
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IMPDH1 retinal variants control filament architecture to tune allosteric regulation
Inosine-5′-monophosphate dehydrogenase (IMPDH), a key regulatory enzyme in purine nucleotide biosynthesis, dynamically assembles filaments in...
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Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India
BackgroundArginase enzyme is essential for the catalysis of the last step of the urea cycle, resulting in the conversion of l -arginine to l -ornithine...
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Biological role and regulation of circular RNA as an emerging biomarker and potential therapeutic target for cancer
Circular RNAs (circRNAs) are a unique family of endogenous RNAs devoid of 3′ poly-A tails and 5′ end caps. These single-stranded circRNAs, found in...
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Epigenetic and Posttranslational Regulation of Ferroptosis
Ferroptosis is tightly controlled by pro-ferroptotic pathways, which involve iron and lipid metabolism, as well as anti-ferroptotic pathways, such as...
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Analysis of CCR2 splice variant expression patterns and functional properties
BackgroundC–C motif chemokine receptor 2 (CCR2), the main receptor for monocyte chemoattractant protein-1 (MCP-1), is expressed on immune cells,...
