Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature Reviews Genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

Transcriptional termination in mammals: Stopping the RNA polymerase II juggernaut

NJ Proudfoot - Science, 2016 - science.org
BACKGROUND Genes correspond to single transcription units, starting from the promoter
and ending at the terminator. Terminating gene transcription is directly coupled to mRNA …

SETD2 is required for DNA double-strand break repair and activation of the p53-mediated checkpoint

S Carvalho, AC Vítor, SC Sridhara, FB Martins… - elife, 2014 - elifesciences.org
Histone modifications establish the chromatin states that coordinate the DNA damage
response. In this study, we show that SETD2, the enzyme that trimethylates histone H3 …

Greater than the sum of parts: complexity of the dynamic epigenome

AA Soshnev, SZ Josefowicz, CD Allis - Molecular cell, 2016 - cell.com
Information encoded in DNA is interpreted, modified, and propagated as chromatin. The
diversity of inputs encountered by eukaryotic genomes demands a matching capacity for …

Regulation of neuronal differentiation, function, and plasticity by alternative splicing

E Furlanis, P Scheiffele - Annual review of cell and …, 2018 - annualreviews.org
Posttranscriptional mechanisms provide powerful means to expand the coding power of
genomes. In nervous systems, alternative splicing has emerged as a fundamental …

Introns protect eukaryotic genomes from transcription-associated genetic instability

A Bonnet, AR Grosso, A Elkaoutari, E Coleno, A Presle… - Molecular cell, 2017 - cell.com
Transcription is a source of genetic instability that can notably result from the formation of
genotoxic DNA: RNA hybrids, or R-loops, between the nascent mRNA and its template. Here …

The first murine zygotic transcription is promiscuous and uncoupled from splicing and 3′ processing

K Abe, R Yamamoto, V Franke, M Cao, Y Suzuki… - The EMBO …, 2015 - embopress.org
Initiation of zygotic transcription in mammals is poorly understood. In mice, zygotic
transcription is first detected shortly after pronucleus formation in 1‐cell embryos, but the …

The features and regulation of co-transcriptional splicing in Arabidopsis

D Zhu, F Mao, Y Tian, X Lin, L Gu, H Gu, L Qu, Y Wu… - Molecular plant, 2020 - cell.com
Precursor mRNA (pre-mRNA) splicing is essential for gene expression in most eukaryotic
organisms. Previous studies from mammals, Drosophila, and yeast show that the majority of …

Exonic splice regulation imposes strong selection at synonymous sites

R Savisaar, LD Hurst - Genome research, 2018 - genome.cshlp.org
What proportion of coding sequence nucleotides have roles in splicing, and how strong is
the selection that maintains them? Despite a large body of research into exonic splice …

Regulation of alternative splicing by p300-mediated acetylation of splicing factors

A Siam, M Baker, L Amit, G Regev, A Rabner, RA Najar… - Rna, 2019 - rnajournal.cshlp.org
Splicing of precursor mRNA (pre-mRNA) is an important regulatory step in gene expression.
Recent evidence points to a regulatory role of chromatin-related proteins in alternative …