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 …

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 …

Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition

D Inoue, JT Polaski, J Taylor, P Castel, S Chen… - Nature …, 2021 - nature.com
Most eukaryotes harbor two distinct pre-mRNA splicing machineries: the major spliceosome,
which removes> 99% of introns, and the minor spliceosome, which removes rare …

A guide to naming human non‐coding RNA genes

RL Seal, LL Chen, S Griffiths‐Jones, TM Lowe… - The EMBO …, 2020 - embopress.org
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 …

Steering research on mRNA splicing in cancer towards clinical translation

O Anczukow, FHT Allain, BL Angarola, DL Black… - Nature Reviews …, 2024 - nature.com
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 …

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 …

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 …

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 …

U1 snRNP telescripting regulates a size–function-stratified human genome

JM Oh, C Di, CC Venters, J Guo, C Arai… - Nature structural & …, 2017 - nature.com
Abstract U1 snRNP (U1) functions in splicing introns and telescripting, which suppresses
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 …