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 …

Single-cell long-read sequencing-based map** reveals specialized splicing patterns in develo** and adult mouse and human brain

A Joglekar, W Hu, B Zhang, O Narykov… - Nature …, 2024‏ - nature.com
RNA isoforms influence cell identity and function. However, a comprehensive brain isoform
map was lacking. We analyze single-cell RNA isoforms across brain regions, cell subtypes …

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 …

Global impact of unproductive splicing on human gene expression

B Fair, CF Buen Abad Najar, J Zhao, S Lozano… - Nature Genetics, 2024‏ - nature.com
Alternative splicing (AS) in human genes is widely viewed as a mechanism for enhancing
proteomic diversity. AS can also impact gene expression levels without increasing protein …

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 …

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 …

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 …

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 …

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 …