Journal of Developmental Biology, 2023 The sexual fate of honeybees is determined by the complementary sex determination (CSD) model: heterozygosity at a single locus (the CSD locus) determines femaleness, while hemizygosity or homozygosity at the CSD locus determines maleness.
Yukihiro Suzuki +2 more
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Diagnostics, 2022 Myelodysplastic syndromes (MDS) are considered to be diseases associated with splicing defects. A large number of genes involved in the pre-messenger RNA splicing process are mutated in MDS.
Nathalie Douet-Guilbert +3 more
doaj +1 more source
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [PDF]
, 2009 Cystic fibrosis (CF) is a common recessive disorder caused by >1600 mutations in the CF transmembrane conductance regulator (CFTR) gene. About 13% of CFTR mutations are classified as “splicing mutations,” but for almost 40% of these, their role in ...
BAFFICO AM +8 more
core +1 more source
Predominant contribution of cis-regulatory divergence in the evolution of mouse alternative splicing [PDF]
, 2015 Divergence of alternative splicing represents one of the major driving forces to shape phenotypic diversity during evolution. However, the extent to which these divergences could be explained by the evolving cis-regulatory versus trans-acting factors ...
Ballegeer, Marlies +4 more
core +2 more sources
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Molecular Genetics & Genomic Medicine, 2020 Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant +6 more
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Apparent non-canonical trans-splicing is generated by reverse transcriptase in vitro [PDF]
, 2010 Trans-splicing, the in vivo joining of two RNA molecules, is well characterized in several groups of simple organisms but was long thought absent from fungi, plants and mammals.
David Tollervey +26 more
core +5 more sources
Frontiers in Genetics, 2018 Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult.
Olatz Villate +11 more
doaj +1 more source
A bioinformatic analysis identifies circadian expression of splicing factors and time-dependent alternative splicing events in the HD-MY-Z cell line [PDF]
, 2019 The circadian clock regulates key cellular processes and its dysregulation is associated to several pathologies including cancer. Although the transcriptional regulation of gene expression by the clock machinery is well described, the role of the clock ...
Abreu, Mónica +4 more
core +1 more source
Spliced leader RNA trans-splicing in dinoflagellates [PDF]
Proceedings of the National Academy of Sciences, 2007 Through the analysis of hundreds of full-length cDNAs from fifteen species representing all major orders of dinoflagellates, we demonstrate that nuclear-encoded mRNAs in all species, from ancestral to derived lineages, are trans-spliced with the addition of the 22-nt conserved spliced leader (SL), DCCGUAGCCAUUUUGGCUCAAG (D = U, A, or G), to the 5′ end.
Huan, Zhang +6 more
openaire +2 more sources
Exon definitive regions for MPC1 microexon splicing and its usage for splicing modulation
Molecular Therapy: Nucleic Acids, 2023 Alternative splicing of microexons (3–30 base pairs [bp]) is involved in important biological processes in brain development and human cancers. However, understanding a splicing process of non-3x bp microexons is scarce.
Eunjin Koh, Daye Shin, Kyung-Sup Kim
doaj +1 more source