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@ARTICLE{Vaillant:310128,
author = {J. Vaillant$^*$ and S. Pal and J. Müller$^*$ and A.
Wittmann$^*$ and A. Boakye-Yiadom$^*$ and P. Sievers$^*$ and
P. Zimmer$^*$ and M. Schoof and F. Schelb$^*$ and N.
Hofmann$^*$ and M.-K. Keck$^*$ and T. Fabian$^*$ and U.
Schüller and M. Zuckermann$^*$ and R. Beroukhim and P.
Bandopadhayay and D. T. W. Jones$^*$ and L. Kutscher$^*$},
title = {{A} {C}re-mediated copy number variant compromises the
reliability of a {L}ox{P}-{STOP}-{L}ox{P}-{PLAG}1 driven
brain tumor model.},
journal = {Neuro-oncology advances},
volume = {8},
number = {1},
issn = {2632-2498},
address = {Oxford},
publisher = {Oxford University Press},
reportid = {DKFZ-2026-00456},
pages = {vdaf251},
year = {2026},
note = {#EA:B430#LA:B430# / #NCTZFB26# / #DKTKZFB26#},
abstract = {The developmental context in which genetic alterations
occur is crucial to understand disease progression. In
pediatric cancer, modeling tumor formation in the right cell
type is necessary to faithfully recapitulate the unique
nature of pediatric tumors. The Cre-LoxP system is a
powerful tool to modulate gene expression in specific cell
types at discrete developmental time windows.We used
Cre-LoxP mouse models to study the role of the oncofetal
transcription factor PLAG1 in pediatric brain tumor
formation. We characterized our model using histology, DNA
methylation based copy number variant (CNV) analysis on
fresh frozen and FFPE derived samples, RNA sequencing, whole
genome sequencing and whole genome CRISPR Cas9 screening.We
generated a new model for PLAG1 overexpressing brain tumors,
but discovered an unexpected CNV at the Nras locus by DNA
methylation analysis. We confirmed the CNV via whole genome
sequencing and found that it was likely mediated by
Cre-recombination at the transgene insertion site. Both the
tumor transcriptome and genetic dependencies are
substantially shaped by this CNV.Our work demonstrates the
necessity of copy-number analysis when working with
transgenic Cre-LoxP mouse models. Assessing CNVs should
become a standard evaluation procedure when reporting new
tumor models, preventing misleading conclusions that could
dramatically impact the reliability of preclinical studies.},
keywords = {CNV (Other) / PLAG1 (Other) / animal models (Other) /
pediatric brain tumor (Other) / preclinical model (Other)},
cin = {B430 / B360 / B062 / B300 / HD02 / HD01},
ddc = {610},
cid = {I:(DE-He78)B430-20160331 / I:(DE-He78)B360-20160331 /
I:(DE-He78)B062-20160331 / I:(DE-He78)B300-20160331 /
I:(DE-He78)HD02-20160331 / I:(DE-He78)HD01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41756758},
pmc = {pmc:PMC12932942},
doi = {10.1093/noajnl/vdaf251},
url = {https://inrepo02.dkfz.de/record/310128},
}