Hypo-osmotic-like stress underlies general cellular defects of aneuploidy

Nature. 2019 Jun;570(7759):117-121. doi: 10.1038/s41586-019-1187-2. Epub 2019 May 8.

Abstract

Aneuploidy, which refers to unbalanced chromosome numbers, represents a class of genetic variation that is associated with cancer, birth defects and eukaryotic micro-organisms1-4. Whereas it is known that each aneuploid chromosome stoichiometry can give rise to a distinct pattern of gene expression and phenotypic profile4,5, it remains a fundamental question as to whether there are common cellular defects that are associated with aneuploidy. Here we show the existence in budding yeast of a common aneuploidy gene-expression signature that is suggestive of hypo-osmotic stress, using a strategy that enables the observation of common transcriptome changes of aneuploidy by averaging out karyotype-specific dosage effects in aneuploid yeast-cell populations with random and diverse chromosome stoichiometry. Consistently, aneuploid yeast exhibited increased plasma-membrane stress that led to impaired endocytosis, and this defect was also observed in aneuploid human cells. Thermodynamic modelling showed that hypo-osmotic-like stress is a general outcome of the proteome imbalance that is caused by aneuploidy, and also predicted a relationship between ploidy and cell size that was observed in yeast and aneuploid cancer cells. A genome-wide screen uncovered a general dependency of aneuploid cells on a pathway of ubiquitin-mediated endocytic recycling of nutrient transporters. Loss of this pathway, coupled with the endocytic defect inherent to aneuploidy, leads to a marked alteration of intracellular nutrient homeostasis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Aneuploidy*
  • Cell Membrane / metabolism
  • Cell Membrane / pathology
  • DNA-Binding Proteins / metabolism
  • Endocytosis
  • Endosomal Sorting Complexes Required for Transport / metabolism
  • Homeostasis
  • Humans
  • Karyotype
  • Osmotic Pressure*
  • Proteome / genetics*
  • Proteome / metabolism*
  • Saccharomyces cerevisiae / cytology*
  • Saccharomyces cerevisiae / genetics*
  • Saccharomyces cerevisiae / metabolism
  • Saccharomyces cerevisiae Proteins / metabolism
  • Stress, Physiological*
  • Thermodynamics
  • Transcription Factors / metabolism
  • Transcriptome / genetics
  • Ubiquitin / metabolism
  • Ubiquitin-Protein Ligase Complexes / metabolism

Substances

  • DNA-Binding Proteins
  • Endosomal Sorting Complexes Required for Transport
  • Proteome
  • SWI4 protein, S cerevisiae
  • Saccharomyces cerevisiae Proteins
  • Transcription Factors
  • Ubiquitin
  • Ubiquitin-Protein Ligase Complexes
  • RSP5 protein, S cerevisiae