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 …

Intron retention as a component of regulated gene expression programs

AG Jacob, CWJ Smith - Human genetics, 2017 - Springer
Intron retention has long been an exemplar of regulated splicing with case studies of
individual events serving as models that provided key mechanistic insights into the process …

SQANTI: extensive characterization of long-read transcript sequences for quality control in full-length transcriptome identification and quantification

M Tardaguila, L De La Fuente, C Marti… - Genome …, 2018 - genome.cshlp.org
High-throughput sequencing of full-length transcripts using long reads has paved the way
for the discovery of thousands of novel transcripts, even in well-annotated mammalian …

The clothes make the mRNA: past and present trends in mRNP fashion

G Singh, G Pratt, GW Yeo… - Annual review of …, 2015 - annualreviews.org
Throughout their lifetimes, messenger RNAs (mRNAs) associate with proteins to form
ribonucleoproteins (mRNPs). Since the discovery of the first mRNP component more than 40 …

Tunable protein synthesis by transcript isoforms in human cells

SN Floor, JA Doudna - Elife, 2016 - elifesciences.org
Eukaryotic genes generate multiple RNA transcript isoforms though alternative transcription,
splicing, and polyadenylation. However, the relationship between human transcript diversity …

Alternative splicing and protein diversity: plants versus animals

S Chaudhary, W Khokhar, I Jabre, ASN Reddy… - Frontiers in plant …, 2019 - frontiersin.org
Plants, unlike animals, exhibit a very high degree of plasticity in their growth and
development and employ diverse strategies to cope with the variations during diurnal cycles …

The roles of RNA processing in translating genotype to phenotype

KS Manning, TA Cooper - Nature reviews Molecular cell biology, 2017 - nature.com
A goal of human genetics studies is to determine the mechanisms by which genetic variation
produces phenotypic differences that affect human health. Efforts in this respect have …

Enhanced protein isoform characterization through long-read proteogenomics

RM Miller, BT Jordan, MM Mehlferber, ED Jeffery… - Genome biology, 2022 - Springer
Background The detection of physiologically relevant protein isoforms encoded by the
human genome is critical to biomedicine. Mass spectrometry (MS)-based proteomics is the …

Efficient and accurate quantitative profiling of alternative splicing patterns of any complexity on a laptop

T Sterne-Weiler, RJ Weatheritt, AJ Best, KCH Ha… - Molecular cell, 2018 - cell.com
Alternative splicing (AS) is a widespread process underlying the generation of transcriptomic
and proteomic diversity and is frequently misregulated in human disease. Accordingly, an …

The RNAissance family: SR proteins as multifaceted regulators of gene expression

JM Howard, JR Sanford - Wiley Interdisciplinary Reviews: RNA, 2015 - Wiley Online Library
Serine and arginine‐rich (SR) proteins play multiple roles in the eukaryotic gene expression
pathway. Initially described as constitutive and alternative splicing factors, now it is clear that …