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Genome doubling — twice the same is not the same

Zuzana Storchová recounts the discovery of the subtle yet significant consequences of polyploidy.

Zuzana Storchová
Research Highlights12 May 2023
Nature Reviews Molecular Cell Biology

Volume: 24, P: 605
Aneuploidy-induced proteostasis disruption impairs mitochondrial functions and mediates aggregation of mitochondrial precursor proteins through SQSTM1/p62

Aneuploidy disrupts proteostasis, leading to protein aggregation and accumulation of SQSTM1/p62 in the cytosol. Here, the authors show that cytosolic p62-positive bodies in aneuploid cells are enriched for mitochondrial precursor proteins, which in turn impairs mitochondrial function.

Prince Saforo Amponsah
Jan-Eric Bökenkamp
Zuzana Storchová
ResearchOpen Access17 Jun 2025
Nature Communications

Volume: 16, P: 1-20
Cells cope with altered chromosome numbers by enhancing protein breakdown

When chromosomes are lost or gained, massive changes in gene expression disrupt the delicate balance of proteins in a cell. Yeasts with incorrect chromosome numbers counteract this by degrading excess proteins.

Zuzana Storchová
News & Views22 May 2024
Nature

Volume: 630, P: 41-43
Author Correction: Genetic instability from a single S phase after whole-genome duplication

Simon Gemble
René Wardenaar
Renata Basto
Amendments and CorrectionsOpen Access21 Jul 2022
Nature

Volume: 608, P: E27
Germline-restricted chromosome of songbirds has different centromere compared to regular chromosomes

Jakub Rídl
Dmitrij Dedukh
Radka Reifová
ResearchOpen Access30 Jul 2025
Heredity

P: 1-8
Systems approaches identify the consequences of monosomy in somatic human cells

The mechanisms that allow cancer cells to survive with monosomies are poorly understood. Here the authors analyse p53-deficient monosomic cell lines using transcriptomics and proteomics, and find that impaired ribosome biogenesis and p53 downregulation are associated with sustained monosomies.

Narendra Kumar Chunduri
Paul Menges
Zuzana Storchova
ResearchOpen Access22 Sept 2021
Nature Communications

Volume: 12, P: 1-17
The diverse consequences of aneuploidy

In this Review Article, Chunduri and Storchová discuss how aneuploidy, often seen in cancer cells, affects gene expression, proliferation, proteotoxic stress and genomic stability, and how these changes relate to those in cancer.

Narendra Kumar Chunduri
Zuzana Storchová
Reviews02 Jan 2019
Nature Cell Biology

Volume: 21, P: 54-62
The presence of extra chromosomes leads to genomic instability

One of the hallmarks of cancer cells is aneuploidy, however the molecular effects are poorly understood. Here the authors show that trisomic and tetrasomic cells display increased genomic instability and reduced levels of the helicase MCM2-7.

Verena Passerini
Efrat Ozeri-Galai
Zuzana Storchová
ResearchOpen Access15 Feb 2016
Nature Communications

Volume: 7, P: 1-12
Epigenetic dysregulation from chromosomal transit in micronuclei

Missegregated chromosomes that are sequestrated in micronuclei are subject to changes in histone modifications leading to abnormalities in chromatin accessibility that remain long after the chromosomes have been reincorporated into the primary nucleus.

Albert S. Agustinus
Duaa Al-Rawi
Samuel F. Bakhoum
ResearchOpen Access07 Jun 2023
Nature

Volume: 619, P: 176-183
Genetic instability from a single S phase after whole-genome duplication

Extensive DNA damage occurs during the first interphase following induction of tetraploidy in human cells, largely as a result of the lower amount of protein relative to DNA.

Simon Gemble
René Wardenaar
Renata Basto
ResearchOpen Access30 Mar 2022
Nature

Volume: 604, P: 146-151
Aneuploidy renders cancer cells vulnerable to mitotic checkpoint inhibition

Aneuploid cancer cell lines show increased dependence on the spindle assembly complex (SAC); initially they are resistant to SAC perturbations, but over time they accumulate chromosomal aberrations that impair their fitness.

Yael Cohen-Sharir
James M. McFarland
Uri Ben-David
Research27 Jan 2021
Nature

Volume: 590, P: 486-491
Peroxiredoxins couple metabolism and cell division in an ultradian cycle

Hydrogen peroxide and peroxiredoxin oxidation levels oscillate during the yeast metabolic cycle, while the absence of peroxiredoxins or the use of thiol oxidants and reductants disrupts metabolic cycling and its coupling with cell division.

Prince Saforo Amponsah
Galal Yahya
Bruce Morgan
Research11 Feb 2021
Nature Chemical Biology

Volume: 17, P: 477-484
Genome-wide genetic analysis of polyploidy in yeast

A set of genes that cause lethality when mutated in polyploid cells, but not when mutated in wild-type cells, are involved in cell cycle processes, such as homologous recombination and kinetochore attachment to the spindle. As many cancer cells exhibit polyploidy, targeting these genes may be an effective strategy to fight cancer.

Zuzana Storchová
Amanda Breneman
David Pellman
Research05 Oct 2006
Nature

Volume: 443, P: 541-547
From polyploidy to aneuploidy, genome instability and cancer

Zuzana Storchova
David Pellman
Reviews01 Jan 2004
Nature Reviews Molecular Cell Biology

Volume: 5, P: 45-54
Genotoxic stress in constitutive trisomies induces autophagy and the innate immune response via the cGAS-STING pathway

Studying trisomic cell lines derived from RPE1 and HCT116 cells, Krivega et al find that autophagy is induced independently of mTORC1 in these cells. Rather, they observe that nuclear accumulation of TFEB and IRF3 and activation of the inflammatory response and autophagy in trisomic cells is dependent on the cGAS-STING pathway.

Maria Krivega
Clara M. Stiefel
Zuzana Storchová
ResearchOpen Access02 Jul 2021
Communications Biology

Volume: 4, P: 1-16

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