RNA mis-splicing in disease
MM Scotti, MS Swanson - Nature Reviews Genetics, 2016 - nature.com
The human transcriptome is composed of a vast RNA population that undergoes further
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …
diversification by splicing. Detecting specific splice sites in this large sequence pool is the …
The cancer spliceome: reprograming of alternative splicing in cancer
E El Marabti, I Younis - Frontiers in molecular biosciences, 2018 - frontiersin.org
Alternative splicing allows for the expression of multiple RNA and protein isoforms from one
gene, making it a major contributor to transcriptome and proteome diversification in …
gene, making it a major contributor to transcriptome and proteome diversification in …
Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition
Most eukaryotes harbor two distinct pre-mRNA splicing machineries: the major spliceosome,
which removes> 99% of introns, and the minor spliceosome, which removes rare …
which removes> 99% of introns, and the minor spliceosome, which removes rare …
A guide to naming human non‐coding RNA genes
Research on non‐coding RNA (nc RNA) is a rapidly expanding field. Providing an official
gene symbol and name to nc RNA genes brings order to otherwise potential chaos as it …
gene symbol and name to nc RNA genes brings order to otherwise potential chaos as it …
Steering research on mRNA splicing in cancer towards clinical translation
Splicing factors are affected by recurrent somatic mutations and copy number variations in
several types of haematologic and solid malignancies, which is often seen as prima facie …
several types of haematologic and solid malignancies, which is often seen as prima facie …
Disorders and roles of tsRNA, snoRNA, snRNA and piRNA in cancer
L Xiao, J Wang, S Ju, M Cui, R Jing - Journal of Medical Genetics, 2022 - jmg.bmj.com
Most small non-coding RNAs (sncRNAs) with regulatory functions are encoded by majority
sequences in the human genome, and the emergence of high-throughput sequencing …
sequences in the human genome, and the emergence of high-throughput sequencing …
The life of U6 small nuclear RNA, from cradle to grave
AL Didychuk, SE Butcher, DA Brow - Rna, 2018 - rnajournal.cshlp.org
Removal of introns from precursor messenger RNA (pre-mRNA) and some noncoding
transcripts is an essential step in eukaryotic gene expression. In the nucleus, this process of …
transcripts is an essential step in eukaryotic gene expression. In the nucleus, this process of …
The phase separation-dependent FUS interactome reveals nuclear and cytoplasmic function of liquid–liquid phase separation
S Reber, D Jutzi, H Lindsay, A Devoy… - Nucleic acids …, 2021 - academic.oup.com
Liquid–liquid phase separation (LLPS) of proteins and RNAs has emerged as the driving
force underlying the formation of membrane-less organelles. Such biomolecular …
force underlying the formation of membrane-less organelles. Such biomolecular …
U1 snRNP telescripting regulates a size–function-stratified human genome
Abstract U1 snRNP (U1) functions in splicing introns and telescripting, which suppresses
premature cleavage and polyadenylation (PCPA). Using U1 inhibition in human cells, we …
premature cleavage and polyadenylation (PCPA). Using U1 inhibition in human cells, we …
[HTML][HTML] Minor spliceosome and disease
B Verma, MV Akinyi, AJ Norppa, MJ Frilander - Seminars in cell & …, 2018 - Elsevier
Abstract The U12-dependent (minor) spliceosome excises a rare group of introns that are
characterized by a highly conserved 5′ splice site and branch point sequence. Several …
characterized by a highly conserved 5′ splice site and branch point sequence. Several …