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 …

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 …

[HTML][HTML] Global detection of human variants and isoforms by deep proteome sequencing

P Sinitcyn, AL Richards, RJ Weatheritt… - Nature …, 2023 - nature.com
An average shotgun proteomics experiment detects approximately 10,000 human proteins
from a single sample. However, individual proteins are typically identified by peptide …

RNA in cancer

GJ Goodall, VO Wickramasinghe - Nature Reviews Cancer, 2021 - nature.com
While the processing of mRNA is essential for gene expression, recent findings have
highlighted that RNA processing is systematically altered in cancer. Mutations in RNA …

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 …

[PDF][PDF] 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 few good peptides: MHC class I-based cancer immunosurveillance and immunoevasion

D Dersh, J Hollý, JW Yewdell - Nature Reviews Immunology, 2021 - nature.com
The remarkable success of immune checkpoint inhibitors demonstrates the potential of
tumour-specific CD8+ T cells to prevent and treat cancer. Although the number of lives …

[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 …

The status of the human gene catalogue

P Amaral, S Carbonell-Sala, FM De La Vega, T Faial… - Nature, 2023 - nature.com
Scientists have been trying to identify every gene in the human genome since the initial draft
was published in 2001. In the years since, much progress has been made in identifying …

[HTML][HTML] Single-cell RNA-seq uncovers dynamic processes and critical regulators in mouse spermatogenesis

Y Chen, Y Zheng, Y Gao, Z Lin, S Yang, T Wang… - Cell research, 2018 - nature.com
A systematic interrogation of male germ cells is key to complete understanding of molecular
mechanisms governing spermatogenesis and the development of new strategies for …