Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]
, 2015 Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold +16 more
core +2 more sources
rMAPS: RNA map analysis and plotting server for alternative exon regulation. [PDF]
, 2016 RNA-binding proteins (RBPs) play a critical role in the regulation of alternative splicing (AS), a prevalent mechanism for generating transcriptomic and proteomic diversity in eukaryotic cells.
Jung, Sungbo +4 more
core +2 more sources
Discover hidden splicing variations by mapping personal transcriptomes to personal genomes. [PDF]
, 2015 RNA-seq has become a popular technology for studying genetic variation of pre-mRNA alternative splicing. Commonly used RNA-seq aligners rely on the consensus splice site dinucleotide motifs to map reads across splice junctions.
Bahrami-Samani, Emad +4 more
core +2 more sources
Global donor and acceptor splicing site kinetics in human cells
eLife, 2019 RNA splicing is an essential part of eukaryotic gene expression. Although the mechanism of splicing has been extensively studied in vitro, in vivo kinetics for the two-step splicing reaction remain poorly understood.
Leonhard Wachutka +3 more
doaj +1 more source
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 +4 more sources
Annotation-free quantification of RNA splicing using LeafCutter
Nature Genetics, 2017 The excision of introns from pre-mRNA is an essential step in mRNA processing. We developed LeafCutter to study sample and population variation in intron splicing.
Yang I. Li +6 more
semanticscholar +1 more source
RNA splicing: disease and therapy [PDF]
Briefings in Functional Genomics, 2011 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
An overview of RNA splicing and functioning of splicing factors in land plant chloroplasts
RNA Biology, 2022 RNA splicing refers to a process by which introns of a pre-mRNA are excised and the exons at both ends are joined together. Chloroplast introns are inherently self-splicing ribozymes, but over time, they have lost self-splicing ability due to the ...
Xuemei Wang +4 more
doaj +1 more source
FOXP3 interacts with hnRNPF to modulate pre-mRNA alternative splicing [PDF]
, 2018 FOXP3 promotes the development and function of regulatory T cells mainly through regulating the transcription of target genes. RNA alternative splicing has been implicated in a wide range of physiological and pathophysiological processes.
Du, Jianguang +3 more
core +1 more source
Determination of RNA structural diversity and its role in HIV-1 RNA splicing
Nature, 2020 Human immunodeficiency virus 1 (HIV-1) is a retrovirus with a ten-kilobase single-stranded RNA genome. HIV-1 must express all of its gene products from a single primary transcript, which undergoes alternative splicing to produce diverse protein products ...
Phillip Tomezsko +16 more
semanticscholar +1 more source