The physiology of alternative splicing

LE Marasco, AR Kornblihtt - Nature Reviews Molecular Cell Biology, 2023 - nature.com
Alternative splicing is a substantial contributor to the high complexity of transcriptomes of
multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of …

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 …

Targeting the epigenetic regulation of antitumour immunity

SJ Hogg, PA Beavis, MA Dawson… - Nature reviews Drug …, 2020 - nature.com
Dysregulation of the epigenome drives aberrant transcriptional programmes that promote
cancer onset and progression. Although defective gene regulation often affects oncogenic …

Gene body methylation in cancer: molecular mechanisms and clinical applications

Q Wang, F **ong, G Wu, W Liu, J Chen, B Wang… - Clinical …, 2022 - Springer
DNA methylation is an important epigenetic mechanism that regulates gene expression. To
date, most DNA methylation studies have focussed on CpG islands in the gene promoter …

Splicing regulation through biomolecular condensates and membraneless organelles

J Giudice, H Jiang - Nature Reviews Molecular Cell Biology, 2024 - nature.com
Biomolecular condensates, sometimes also known as membraneless organelles (MLOs),
can form through weak multivalent intermolecular interactions of proteins and nucleic acids …

Alternative splicing as a regulator of development and tissue identity

FE Baralle, J Giudice - Nature reviews Molecular cell biology, 2017 - nature.com
Alternative splicing of eukaryotic transcripts is a mechanism that enables cells to generate
vast protein diversity from a limited number of genes. The mechanisms and outcomes of …

Alternative splicing control of abiotic stress responses

T Laloum, G Martín, P Duque - Trends in plant science, 2018 - cell.com
Alternative splicing, which generates multiple transcripts from the same gene, is an
important modulator of gene expression that can increase proteome diversity and regulate …

RNA splicing factors as oncoproteins and tumour suppressors

H Dvinge, E Kim, O Abdel-Wahab… - Nature Reviews Cancer, 2016 - nature.com
The recent genomic characterization of cancers has revealed recurrent somatic point
mutations and copy number changes affecting genes encoding RNA splicing factors. Initial …

Next-generation sequencing in oncology: genetic diagnosis, risk prediction and cancer classification

R Kamps, RD Brandão, BJ van den Bosch… - International journal of …, 2017 - mdpi.com
Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …

Histone exchange, chromatin structure and the regulation of transcription

S Venkatesh, JL Workman - Nature reviews Molecular cell biology, 2015 - nature.com
The packaging of DNA into strings of nucleosomes is one of the features that allows
eukaryotic cells to tightly regulate gene expression. The ordered disassembly of …