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 …

Alternative splicing as a source of phenotypic diversity

CJ Wright, CWJ Smith, CD Jiggins - Nature Reviews Genetics, 2022 - nature.com
A major goal of evolutionary genetics is to understand the genetic processes that give rise to
phenotypic diversity in multicellular organisms. Alternative splicing generates multiple …

Alternative splicing regulatory networks: functions, mechanisms, and evolution

J Ule, BJ Blencowe - Molecular cell, 2019 - cell.com
High-throughput sequencing-based methods and their applications in the study of
transcriptomes have revolutionized our understanding of alternative splicing. Networks of …

Annotation-free quantification of RNA splicing using LeafCutter

YI Li, DA Knowles, J Humphrey, AN Barbeira… - Nature …, 2018 - nature.com
The excision of introns from pre-mRNA is an essential step in mRNA processing. We
developed LeafCutter to study sample and population variation in intron splicing. LeafCutter …

[HTML][HTML] The role of alternative splicing in cancer: From oncogenesis to drug resistance

R Sciarrillo, A Wojtuszkiewicz, YG Assaraf… - Drug Resistance …, 2020 - Elsevier
Alternative splicing is a tightly regulated process whereby non-coding sequences of pre-
mRNA are removed and protein-coding segments are assembled in diverse combinations …

Molecular mechanisms of ROS production and oxidative stress in diabetes

P Newsholme, VF Cruzat, KN Keane… - Biochemical …, 2016 - portlandpress.com
Oxidative stress and chronic inflammation are known to be associated with the development
of metabolic diseases, including diabetes. Oxidative stress, an imbalance between oxidative …

Epigenetically controlled tumor antigens derived from splice junctions between exons and transposable elements

M Burbage, A Rocañín-Arjó, B Baudon, YA Arribas… - Science …, 2023 - science.org
Oncogenesis often implicates epigenetic alterations, including derepression of transposable
elements (TEs) and defects in alternative splicing. Here, we explore the possibility that …

Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer's disease susceptibility

T Raj, YI Li, G Wong, J Humphrey, M Wang… - Nature …, 2018 - nature.com
Here we use deep sequencing to identify sources of variation in mRNA splicing in the
dorsolateral prefrontal cortex (DLPFC) of 450 subjects from two aging cohorts. Hundreds of …

The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè… - Science, 2015 - science.org
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Dynamic landscape and evolution of m6A methylation in human

H Zhang, X Shi, T Huang, X Zhao, W Chen… - Nucleic acids …, 2020 - academic.oup.com
Abstract m6A is a prevalent internal modification in mRNAs and has been linked to the
diverse effects on mRNA fate. To explore the landscape and evolution of human m6A, we …