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Aberrant inheritance of extrachromosomal DNA amplifications promotes cancer evolution

Title: Aberrant inheritance of extrachromosomal DNA amplifications promotes cancer evolution
Authors: Marom, Shir; Lifshits Dayan, Inbar; Narasimha Kadali, Venkata; Giurgiu-Kraljič, Mădălina; Koifman, Gabriela; Hakeny, Karen; Chaurasia, Madhuri; Benamozig, Orlena; Nevo, Reinat; Azuri, Ido; Ryvkin, Julia; Rotkopf, Ron; Stelzer, Gil; Oniashvili, Nino; Mardoukh, Jacques; Pollock, Sarah; Iremadze, Nika; Shipony, Zohar; Kupervaser, Meital; Wigoda, Noa; Leshkowitz, Dena; Elazar, Zvulun; Berko, Esther; Henssen, Anton G.; Shoshani, Ofer
Publisher Information: Cold Spring Harbor Laboratory Press
Publication Year: 2025
Collection: Max-Delbrueck-Center for Molecular Medicine, Berlin: MDC Repository
Subject Terms: Cancer Research; Topic 2: Molecular Processes and Therapies
Description: Gene amplification in the form of extrachromosomal DNA (ecDNA) is a frequent driver in multiple cancer types. As ecDNA lack centromeres, their mitotic segregation does not follow traditional inheritance principles. However, the mechanisms that govern ecDNA fate following mitosis remain unclear. We found that ecDNA undergo numerical and structural optimization under increased selective pressure, with mitotic chromosomal tethering, or detachment, dictating ecDNA fate. When tethered, ecDNA aggregates promote uneven distribution into the newly formed daughter cells, thereby driving inter-cellular numerical heterogeneity and rapid increase of amplification under selective pressure. Mitotically detached ecDNA frequently encapsulate within micronuclei of variable size and content that appear to be highly fragile. Strikingly, ecDNA enclosed in very small micronuclei, which we term nanonuclei, are being actively degraded through autophagy. Together with ongoing structural rearrangements, nanonuclear ecDNA degradation promotes their structural evolution, which facilitates cancer cell adaptation. Our work highlights ecDNA aggregation, micronucleation, and degradation, as pivotal events in directing cancer genome evolution trajectories.
Document Type: report
File Description: application/pdf
Language: English
Relation: https://edoc.mdc-berlin.de/id/eprint/25737/1/25737oa.pdf; Aberrant inheritance of extrachromosomal DNA amplifications promotes cancer evolution. Marom, Shir, Lifshits Dayan, Inbar, Narasimha Kadali, Venkata, Giurgiu-Kraljič, Mădălina, Koifman, Gabriela, Hakeny, Karen, Chaurasia, Madhuri, Benamozig, Orlena, Nevo, Reinat, Azuri, Ido, Ryvkin, Julia, Rotkopf, Ron, Stelzer, Gil, Oniashvili, Nino, Mardoukh, Jacques, Pollock, Sarah, Iremadze, Nika, Shipony, Zohar, Kupervaser, Meital, Wigoda, Noa, Leshkowitz, Dena, Elazar, Zvulun, Berko, Esther, Henssen, Anton G. and Shoshani, Ofer bioRxiv : 2025.09.19.677276. 21 September 2025; bioRxiv:2025.09.19.677276; https://doi.org/10.1101/2025.09.19.677276
DOI: 10.1101/2025.09.19.677276
Availability: https://edoc.mdc-berlin.de/id/eprint/25737/; https://edoc.mdc-berlin.de/25737/; https://doi.org/10.1101/2025.09.19.677276
Rights: cc_by_nc_nd_4
Accession Number: edsbas.9939C3D1
Database: BASE