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@ARTICLE{Cosenza:305589,
author = {M. R. Cosenza and A. Gaiatto and B. Erarslan Uysal$^*$ and
Á. Andrades and N. L. Sautter and M. Simunovic and M. A.
Jendrusch and S. Zumalave and T. Rausch and A. Halavatyi and
E.-M. Geissen and J. L. Eigenmann and T. Weber and P.
Hasenfeld and E. Benito and C. Stober and I. Cortes-Ciriano
and A. Kulozik$^*$ and R. Pepperkok and J. Korbel$^*$},
title = {{O}rigins of chromosome instability unveiled by coupled
imaging and genomics.},
journal = {Nature},
volume = {nn},
issn = {0028-0836},
address = {London [u.a.]},
publisher = {Nature Publ. Group},
reportid = {DKFZ-2025-02248},
pages = {nn},
year = {2025},
note = {#LA:B480# / epub},
abstract = {Somatic chromosome instability results in widespread
structural and numerical chromosomal abnormalities (CAs)
during cancer evolution1-3. Although CAs have been linked to
mitotic errors resulting in the emergence of nuclear
atypia4-7, the underlying processes and rates of spontaneous
CA formation in human cells are underexplored. Here we
introduce machine-learning-assisted genomics and imaging
convergence (MAGIC)-an autonomously operated platform that
integrates live-cell imaging of micronucleated cells,
machine learning on-the-fly and single-cell genomics to
systematically investigate CA formation. Applying MAGIC to
near-diploid, non-transformed cell lines, we track de novo
CAs over successive cell cycles, highlighting the common
role of dicentric chromosomes as initiating events. We
determine the baseline CA mutation rate, which approximately
doubles in TP53-deficient cells, and observe that chromosome
losses arise more frequently than gains. The targeted
induction of DNA double-strand breaks along chromosome arms
triggers distinct CA processes, revealing stable
isochromosomes, coordinated segregation and amplification of
isoacentric segments in multiples of two, as well as complex
CA outcomes, influenced by the chromosomal break location.
Our data contrast de novo CA spectra from somatic mutational
landscapes after selection occurred. The experimentation
enabled by MAGIC advances the dissection of DNA
rearrangement processes, shedding light on fundamental
determinants of chromosomal instability.},
cin = {A400 / B480},
ddc = {500},
cid = {I:(DE-He78)A400-20160331 / I:(DE-He78)B480-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41162705},
doi = {10.1038/s41586-025-09632-5},
url = {https://inrepo02.dkfz.de/record/305589},
}