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 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 …

A reference map of the human binary protein interactome

K Luck, DK Kim, L Lambourne, K Spirohn, BE Begg… - Nature, 2020 - nature.com
Global insights into cellular organization and genome function require comprehensive
understanding of the interactome networks that mediate genotype–phenotype relationships …

GENCODE reference annotation for the human and mouse genomes

A Frankish, M Diekhans, AM Ferreira… - Nucleic acids …, 2019 - academic.oup.com
The accurate identification and description of the genes in the human and mouse genomes
is a fundamental requirement for high quality analysis of data informing both genome …

Predicting splicing from primary sequence with deep learning

K Jaganathan, SK Panagiotopoulou, JF McRae… - Cell, 2019 - cell.com
The splicing of pre-mRNAs into mature transcripts is remarkable for its precision, but the
mechanisms by which the cellular machinery achieves such specificity are incompletely …

Human gut microbiota from autism spectrum disorder promote behavioral symptoms in mice

G Sharon, NJ Cruz, DW Kang, MJ Gandal, B Wang… - Cell, 2019 - cell.com
Autism spectrum disorder (ASD) manifests as alterations in complex human behaviors
including social communication and stereotypies. In addition to genetic risks, the gut …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

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 …

Phase separation as a missing mechanism for interpretation of disease mutations

B Tsang, I Pritišanac, SW Scherer, AM Moses… - Cell, 2020 - cell.com
It is unclear how disease mutations impact intrinsically disordered protein regions (IDRs),
which lack a stable folded structure. These mutations, while prevalent in disease, are …

Single-nuclei isoform RNA sequencing unlocks barcoded exon connectivity in frozen brain tissue

SA Hardwick, W Hu, A Joglekar, L Fan, PG Collier… - Nature …, 2022 - nature.com
Single-nuclei RNA sequencing characterizes cell types at the gene level. However,
compared to single-cell approaches, many single-nuclei cDNAs are purely intronic, lack …