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 …

Nuclear speckles–a driving force in gene expression

GP Faber, S Nadav-Eliyahu… - Journal of cell …, 2022 - journals.biologists.com
Nuclear speckles are dynamic membraneless bodies located in the cell nucleus. They
harbor RNAs and proteins, many of which are splicing factors, that together display complex …

Systematic mapping of nuclear domain-associated transcripts reveals speckles and lamina as hubs of functionally distinct retained introns

AR Barutcu, M Wu, U Braunschweig, BJA Dyakov… - Molecular cell, 2022 - cell.com
The nucleus is highly compartmentalized through the formation of distinct classes of
membraneless domains. However, the composition and function of many of these structures …

Profiling lariat intermediates reveals genetic determinants of early and late co-transcriptional splicing

Y Zeng, BJ Fair, H Zeng, A Krishnamohan, Y Hou… - Molecular cell, 2022 - cell.com
Long introns with short exons in vertebrate genes are thought to require spliceosome
assembly across exons (exon definition), rather than introns, thereby requiring transcription …

Dynamics of RNA localization to nuclear speckles are connected to splicing efficiency

J Wu, Y Xiao, Y Liu, L Wen, C Jin, S Liu, S Paul… - Science …, 2024 - science.org
Nuclear speckles are nuclear membraneless organelles in higher eukaryotic cells playing a
vital role in gene expression. Using an in situ reverse transcription–based sequencing …

Co-transcriptional gene regulation in eukaryotes and prokaryotes

M Shine, J Gordon, L Schärfen, D Zigackova… - … Reviews Molecular Cell …, 2024 - nature.com
Many steps of RNA processing occur during transcription by RNA polymerases. Co-
transcriptional activities are deemed commonplace in prokaryotes, in which the lack of …

Genome organization around nuclear speckles drives mRNA splicing efficiency

P Bhat, A Chow, B Emert, O Ettlin, SA Quinodoz… - Nature, 2024 - nature.com
The nucleus is highly organized, such that factors involved in the transcription and
processing of distinct classes of RNA are confined within specific nuclear bodies,. One …

Human histone H1 variants impact splicing outcome by controlling RNA polymerase II elongation

C Pascal, J Zonszain, O Hameiri, C Gargi-Levi… - Molecular Cell, 2023 - cell.com
Histones shape chromatin structure and the epigenetic landscape. H1, the most diverse
histone in the human genome, has 11 variants. Due to the high structural similarity between …

FUBP1 is a general splicing factor facilitating 3′ splice site recognition and splicing of long introns

S Ebersberger, C Hipp, MM Mulorz, A Buchbender… - Molecular cell, 2023 - cell.com
Splicing of pre-mRNAs critically contributes to gene regulation and proteome expansion in
eukaryotes, but our understanding of the recognition and pairing of splice sites during …

Transcriptome-wide splicing network reveals specialized regulatory functions of the core spliceosome

ME Rogalska, E Mancini, S Bonnal, A Gohr… - Science, 2024 - science.org
The spliceosome is the complex molecular machinery that sequentially assembles on
eukaryotic messenger RNA precursors to remove introns (pre-mRNA splicing), a …