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@ARTICLE{Schlsser:300218,
author = {R. M. Schlösser and F. Krumbach and E. Corrales and G.
Andrieux and C. Preisinger and F. Liss and A. Golzmann and
M. Börries$^*$ and K. Becker and R. Knüchel and S. Garczyk
and B. Lüscher},
title = {{M}ultidimensional {OMIC}s reveal {ARID}1{A} orchestrated
control of {DNA} damage, splicing, and cell cycle in
normal-like and malignant urothelial cells.},
journal = {Molecular oncology},
volume = {nn},
issn = {1574-7891},
address = {Hoboken, NJ},
publisher = {John Wiley $\&$ Sons, Inc.},
reportid = {DKFZ-2025-00680},
pages = {nn},
year = {2025},
note = {epub},
abstract = {Epigenetic regulators, such as the SWI/SNF complex, with
important roles in tissue development and homeostasis, are
frequently mutated in cancer. ARID1A, a subunit of the
SWI/SNF complex, is mutated in approximately $20\%$ of all
bladder tumors; however, the consequences of this remain
poorly understood. Finding truncations to be the most common
mutation, we generated loss- and gain-of-function models to
conduct RNA-Seq, interactome analyses, Omni-ATAC-Seq, and
functional studies to characterize ARID1A-affected pathways
potentially suitable for the treatment of ARID1A-deficient
bladder cancers. We observed decreased cell proliferation
and deregulation of stress-regulated pathways, including DNA
repair, in ARID1A-deficient cells. Furthermore, ARID1A was
linked to alternative splicing and translational regulation
on RNA and interactome levels. ARID1A deficiency drastically
reduced the accessibility of chromatin, especially around
introns and distal enhancers, in a functional enrichment
analysis. Less accessible chromatin areas were mapped to
pathways such as cell proliferation and DNA damage response.
Indeed, the G2/M checkpoint appeared impaired after DNA
damage in ARID1A-deficient cells. Together, our data
highlight the broad impact of ARID1A loss and the
possibility of targeting proliferative and DNA repair
pathways for treatment.},
keywords = {ARID1A (Other) / ATAC‐Seq (Other) / DNA‐damage
checkpoints (Other) / RNA‐Seq (Other) / SWI/SNF (Other) /
bladder cancer (Other)},
cin = {FR01},
ddc = {610},
cid = {I:(DE-He78)FR01-20160331},
pnm = {899 - ohne Topic (POF4-899)},
pid = {G:(DE-HGF)POF4-899},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40170512},
doi = {10.1002/1878-0261.70019},
url = {https://inrepo02.dkfz.de/record/300218},
}