Results 21 to 30 of about 203,728 (290)
The influence of 4-thiouridine labeling on pre-mRNA splicing outcomes.
PLoS ONE, 2021 Metabolic labeling is a widely used tool to investigate different aspects of pre-mRNA splicing and RNA turnover. The labeling technology takes advantage of native cellular machineries where a nucleotide analog is readily taken up and incorporated into ...
Jessie A C Altieri, Klemens J Hertel
doaj +1 more source
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay
Frontiers in Genetics, 2020 BackgroundFamilial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants.
Sai Wang +10 more
doaj +1 more source
A quantitative, high-throughput reverse genetic screen reveals novel connections between Pre-mRNA splicing and 5' and 3' end transcript determinants. [PDF]
PLoS Genetics, 2012 Here we present the development and implementation of a genome-wide reverse genetic screen in the budding yeast, Saccharomyces cerevisiae, that couples high-throughput strain growth, robotic RNA isolation and cDNA synthesis, and quantitative PCR to allow
Laura-Oana Albulescu +6 more
doaj +1 more source
eLife, 2022 Splicing is highly regulated and is modulated by numerous factors. Quantitative predictions for how a mutation will affect precursor mRNA (pre-mRNA) structure and downstream function are particularly challenging.
Jayashree Kumar +7 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
Regulation of alternative pre-mRNA splicing [PDF]
Briefings in Functional Genomics and Proteomics, 2002 The first wave of bioinformatic studies that followed genome and complementary DNA sequencing projects revealed that alternative splicing of messenger RNA precursors (pre-mRNAs) contributes substantially to transcriptome complexity in higher eukaryotes.
Louise, Woodley, Juan, Valcárcel
openaire +2 more sources
Retroelement origins of pre‐mRNA splicing [PDF]
WIREs RNA, 2020 AbstractRecent cryo‐EM structures of a group II intron caught in the process of invading DNA have given new insight into the mechanisms of both splicing and retrotransposition. Conformational dynamics involving the branch‐site helix domain VI are responsible for substrate exchange between the two steps of splicing.
Daniel B. Haack, Navtej Toor
openaire +2 more sources
PRP4: a protein of the yeast U4/U6 small nuclear ribonucleoprotein particle [PDF]
, 1989 The Saccharomyces cerevisiae prp mutants (prp2 through prp11) are known to be defective in pre-mRNA splicing at nonpermissive temperatures. We have sequenced the PRP4 gene and shown that it encodes a 52-kilodalton protein.
Abelson, John N., Banroques, Josette
core +1 more source
Cell Reports, 2019 Summary: In the eukaryotic cell, spliceosomes assemble onto pre-mRNA cotranscriptionally. Spliceosome assembly takes place in the context of the chromatin environment, suggesting that the state of the chromatin may affect splicing.
Calvin S. Leung +6 more
doaj +1 more source
Environmental Stress and Pre-mRNA Splicing [PDF]
Molecular Plant, 2015 Pre-mRNA splicing is an important step for gene expression regulation in plants in response to abiotic stress. In recent years, RNA sequencing (RNA-seq) based on various next-generation sequencing technologies has been used to study dynamic changes of pre-mRNA splicing under conditions of diverse abiotic stress in several plant species.
Cui, Peng, Xiong, Liming
openaire +3 more sources