RNA splicing dysregulation and the hallmarks of cancer

RK Bradley, O Anczuków - Nature Reviews Cancer, 2023 - nature.com
Dysregulated RNA splicing is a molecular feature that characterizes almost all tumour types.
Cancer-associated splicing alterations arise from both recurrent mutations and altered …

Molecular impact of mutations in RNA splicing factors in cancer

Q Zhang, Y Ai, O Abdel-Wahab - Molecular Cell, 2024 - cell.com
Somatic mutations in genes encoding components of the RNA splicing machinery occur
frequently in multiple forms of cancer. The most frequently mutated RNA splicing factors in …

Transcription elongation defects link oncogenic SF3B1 mutations to targetable alterations in chromatin landscape

PC Boddu, AK Gupta, R Roy, BDLP Avalos… - Molecular cell, 2024 - cell.com
Transcription and splicing of pre-messenger RNA are closely coordinated, but how this
functional coupling is disrupted in human diseases remains unexplored. Using isogenic cell …

Emerging roles of spliceosome in cancer and immunity

H Yang, B Beutler, D Zhang - Protein & Cell, 2022 - academic.oup.com
Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate
ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered …

BRD9 determines the cell fate of hematopoietic stem cells by regulating chromatin state

M **ao, S Kondo, M Nomura, S Kato… - Nature …, 2023 - nature.com
ATP-dependent chromatin remodeling SWI/SNF complexes exist in three subcomplexes:
canonical BAF (cBAF), polybromo BAF (PBAF), and a newly described non-canonical BAF …

Dysregulation and therapeutic targeting of RNA splicing in cancer

RF Stanley, O Abdel-Wahab - Nature cancer, 2022 - nature.com
High-throughput sequencing and functional characterization of the cancer transcriptome
have uncovered cancer-specific dysregulation of RNA splicing across a variety of cancers …

SF3B1 mutation and ATM deletion codrive leukemogenesis via centromeric R-loop dysregulation

M Cusan, H Shen, B Zhang, A Liao, L Yang, M **… - The Journal of Clinical …, 2023 - jci.org
RNA splicing factor SF3B1 is recurrently mutated in various cancers, particularly in
hematologic malignancies. We previously reported that coexpression of Sf3b1 mutation and …

How can same-gene mutations promote both cancer and developmental disorders?

R Nussinov, CJ Tsai, H Jang - Science advances, 2022 - science.org
The question of how same-gene mutations can drive both cancer and neurodevelopmental
disorders has been puzzling. It has also been puzzling why those with neurodevelopmental …

Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis

K Togami, SS Chung, V Madan, CAG Booth… - Cancer …, 2022 - aacrjournals.org
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive leukemia of
plasmacytoid dendritic cells (pDC). BPDCN occurs at least three times more frequently in …

Gadd45g insufficiency drives the pathogenesis of myeloproliferative neoplasms

P Zhang, N You, Y Ding, W Zhu, N Wang, Y **e… - Nature …, 2024 - nature.com
Despite the identification of driver mutations leading to the initiation of myeloproliferative
neoplasms (MPNs), the molecular pathogenesis of MPNs remains incompletely understood …