Rules and tools to predict the splicing effects of exonic and intronic mutations

K Ohno, J Takeda, A Masuda - Wiley Interdisciplinary Reviews …, 2018 - Wiley Online Library
Development of next generation sequencing technologies has enabled detection of
extensive arrays of germline and somatic single nucleotide variations (SNVs) in human …

Regulation of alternative splicing: more than just the ABCs

AE House, KW Lynch - Journal of Biological Chemistry, 2008 - ASBMB
Alternative pre-mRNA splicing, the differential inclusion or exclusion of portions of a nascent
transcript into the final protein-coding mRNA, is widely recognized to be a ubiquitous …

[HTML][HTML] Splice site m6A methylation prevents binding of U2AF35 to inhibit RNA splicing

M Mendel, K Delaney, RR Pandey, KM Chen… - Cell, 2021 - cell.com
Summary The N 6-methyladenosine (m 6 A) RNA modification is used widely to alter the fate
of mRNAs. Here we demonstrate that the C. elegans writer METT-10 (the ortholog of mouse …

Maintenance of muscle stem-cell quiescence by microRNA-489

TH Cheung, NL Quach, GW Charville, L Liu, L Park… - Nature, 2012 - nature.com
Among the key properties that distinguish adult mammalian stem cells from their more
differentiated progeny is the ability of stem cells to remain in a quiescent state for prolonged …

Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer

S Delaunay, F Rapino, L Tharun, Z Zhou… - Journal of Experimental …, 2016 - rupress.org
Quantitative and qualitative changes in mRNA translation occur in tumor cells and support
cancer progression and metastasis. Posttranscriptional modifications of transfer RNAs …

A Pan-Cancer Analysis of Transcriptome Changes Associated with Somatic Mutations in U2AF1 Reveals Commonly Altered Splicing Events

AN Brooks, PS Choi, L De Waal, T Sharifnia… - PloS one, 2014 - journals.plos.org
Although recurrent somatic mutations in the splicing factor U2AF1 (also known as U2AF35)
have been identified in multiple cancer types, the effects of these mutations on the cancer …

Mechanisms for U2AF to define 3′ splice sites and regulate alternative splicing in the human genome

C Shao, B Yang, T Wu, J Huang, P Tang… - Nature structural & …, 2014 - nature.com
The U2AF heterodimer has been well studied for its role in defining functional 3′ splice
sites in pre-mRNA splicing, but many fundamental questions still remain unaddressed …

FUBP1 is a general splicing factor facilitating 3′ splice site recognition and splicing of long introns

S Ebersberger, C Hipp, MM Mulorz, A Buchbender… - Molecular cell, 2023 - cell.com
Splicing of pre-mRNAs critically contributes to gene regulation and proteome expansion in
eukaryotes, but our understanding of the recognition and pairing of splice sites during …

Dek modulates global intron retention during muscle stem cells quiescence exit

L Yue, R Wan, S Luan, W Zeng, TH Cheung - Developmental cell, 2020 - cell.com
Adult stem cells are essential for tissue regeneration. However, the mechanisms underlying
the activation of quiescent adult stem cells remain elusive. Using skeletal muscle stem cells …

Multi-domain conformational selection underlies pre-mRNA splicing regulation by U2AF

CD Mackereth, T Madl, S Bonnal, B Simon, K Zanier… - Nature, 2011 - nature.com
Many cellular functions involve multi-domain proteins, which are composed of structurally
independent modules connected by flexible linkers. Although it is often well understood how …