Quantification of pre-mRNA escape rate and synergy in splicing [PDF]
Splicing reactions generally combine high speed with accuracy. However, some of the pre-mRNAs escape the nucleus with a retained intron. Intron retention can control gene expression and increase proteome diversity.
Becskei, Attila +13 more
core +1 more source
Structural insights into RNA splicing [PDF]
Intron splicing is a fundamental biological process whereby noncoding sequences are removed from precursor RNAs. Recent work has provided new insights into the structural features and reaction mechanisms of two introns that catalyze their own splicing from precursor RNA: the group I and II introns.
Navtej, Toor +2 more
openaire +2 more sources
ISVASE: identification of sequence variant associated with splicing event using RNA-seq data
Background Exon recognition and splicing precisely and efficiently by spliceosome is the key to generate mature mRNAs. About one third or a half of disease-related mutations affect RNA splicing.
Hasan Awad Aljohi +4 more
doaj +1 more source
Aurora kinase A regulates cancer-associated RNA aberrant splicing in breast cancer
The contribution of oncogenes to tumor-associated RNA splicing and the relevant molecular mechanisms therein require further elaboration. Here, we show that oncogenic Aurora kinase A (AURKA) promotes breast cancer-related RNA aberrant splicing in a ...
Sisi Li +7 more
doaj +1 more source
A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing [PDF]
Background: Substantial progress has been made in the identification of sequence elements that control mRNA splicing and the genetic variants in these elements that alter mRNA splicing (referred to as splicing quantitative trait loci – sQTLs).
Ramesar, Raj +7 more
core +1 more source
RNA splicing: disease and therapy [PDF]
The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. The mechanism of pre-mRNA splicing is highly complex, requiring multiple interactions between pre-mRNA, small nuclear ribonucleoproteins and splicing factor proteins.
Douglas, Andrew G.L., Wood, Matthew J.A.
openaire +4 more sources
The incredible complexity of RNA splicing [PDF]
Alternative splice isoforms are common and important and have been shown to impact many human diseases. A new study by Nellore et al. offers a comprehensive study of splice junctions in humans by re-analyzing over 21,500 public human RNA sequencing datasets.
Christelle Robert, Mick Watson
openaire +2 more sources
Linking splicing to Pol II transcription stabilizes pre-mRNAs and influences splicing patterns.
RNA processing is carried out in close proximity to the site of transcription, suggesting a regulatory link between transcription and pre-mRNA splicing. Using an in vitro transcription/splicing assay, we demonstrate that an association of RNA polymerase ...
Martin J Hicks +3 more
doaj +1 more source
A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements [PDF]
Background: polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of ...
Churbanov, Alexander +8 more
core +1 more source
Trim25 is an RNA-specific activator of Lin28a/TuT4-mediated uridylation [PDF]
RNA binding proteins have thousands of cellular RNA targets and often exhibit opposite or passive molecular functions. Lin28a is a conserved RNA binding protein involved in pluripotency and tumorigenesis that was previously shown to trigger TuT4-mediated
Nowak, Jakub S. +14 more
core +1 more source

