Evidence map›Paper›PMID 40324880›Full record

ArticleGenes & development2025

Aneuploidy generates enhanced nucleotide dependency and sensitivity to metabolic perturbation.

Rayna Y Magesh, Arshia N Kaur, Faith N Keller, Abdulrazak Frederick, Tenzin Tseyang, John A Haley, Alejandra M Rivera-Nieves, Anthony C Liang, David A Guertin, Jessica B Spinelli and 2 more

Abstract read
In one paragraph

Article in Genes & development, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Article
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  4. Review
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  8. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Rayna Y Magesh *Department of Systems Biology, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA.ORCID 0009-0007-8837-7521
Arshia N Kaur *Department of Systems Biology, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA.ORCID 0000-0002-5369-3416
Faith N KellerDepartment of Systems Biology, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA.ORCID 0000-0001-6892-921X
Abdulrazak FrederickDepartment of Systems Biology, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA.
Tenzin TseyangProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA.ORCID 0009-0007-9410-3789
John A HaleyProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA.ORCID 0000-0003-2652-4841
Alejandra M Rivera-NievesProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA.ORCID 0000-0002-8478-1945
Anthony C LiangDepartment of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.ORCID 0000-0002-8792-8260
David A GuertinProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA.ORCID 0000-0003-3695-6007
Jessica B SpinelliProgram in Molecular Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA.ORCID 0000-0003-3657-4578
Stephen J ElledgeDepartment of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA; selledge@genetics.med.harvard.edu emma.watson1@umassmed.edu.ORCID 0000-0001-7923-6283
Emma V WatsonDepartment of Systems Biology, University of Massachusetts Chan Medical School, Worcester, Massachusetts 01605, USA; selledge@genetics.med.harvard.edu emma.watson1@umassmed.edu.ORCID 0000-0003-1321-6604

Funding

Mechanistic Target of Rapamycin Pathways in Metabolism and Energy ExpenditureR01DK094004 · NIDDK · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI GUERTIN, DAVID A · 2013 to 2023
$4.5M
Quantitative and functional analysis of brown fat nutrient fluxes in vivo and its role in organ metabolite exchangeR01DK127175 · NIDDK · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI GUERTIN, DAVID A · 2021 to 2025
$2.7M
Analysis of the Mammalian DNA Damage ResponseR01CA234600 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELLEDGE, STEPHEN J · 2019 to 2023
$2.0M
NCI NIH HHS R01 CA234600NIDDK NIH HHS R01 DK094004NIDDK NIH HHS R01 DK127175
6 · The paper itself

Abstract

Despite the general detriment of aneuploidy to cellular fitness, >90% of solid tumors carry an imbalanced karyotype. This existing paradox and the molecular responses to aneuploidy remain poorly understood. Here, we explore these cellular stresses and unique vulnerabilities of aneuploidy in human mammary epithelial cells (HMECs) enriched for breast cancer-associated copy number alterations (CNAs). To uncover the genetic dependencies specific to aneuploid cells, we conducted a comprehensive, genome-wide CRISPR knockout screen in isogenic aneuploid and diploid HMEC lines. Our study reveals that aneuploid HMECs exhibit an increased reliance on pyrimidine biosynthesis and mitochondrial oxidative phosphorylation genes and demonstrate heightened fitness advantages upon loss of tumor suppressor genes. Using an integrative multiomic analysis, we confirmed nucleotide pool insufficiency as a key contributor to widespread cellular dysfunction in aneuploid HMECs with net copy number gain. Although diploid cells can switch seamlessly between pyrimidine synthesis and salvage, cells with increased chromosomal content exhibit p53 activation and S-phase arrest when relying on salvage alone, alongside increased sensitivity to DNA-damaging chemotherapeutics. This work advances our understanding of the consequences of aneuploidy and uncovers potential avenues for patient stratification and therapeutic intervention based on tumor ploidy.

Indexed as

AneuploidyNucleotidesBreast NeoplasmsDNA Copy Number VariationsEpithelial CellsFemaleHumansMammary Glands, HumanOxidative PhosphorylationPyrimidinesNucleotidespyrimidinePyrimidinesaneuploidycancerCRISPRgenomicsmetabolism

Identifiers

PMID40324880
PMCPMC12128873

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.