Transcriptional consequences of aneuploidy

UMMS Affiliation

Program in Gene Function and Expression; Program in Molecular Medicine



Document Type


Medical Subject Headings

*Aneuploidy; Animals; Arabidopsis; Cell Line; Gene Expression Regulation, Fungal; Gene Expression Regulation, Plant; Humans; Mice; Saccharomyces cerevisiae; Schizosaccharomyces; Species Specificity; Transcription, Genetic


Cell Biology | Cellular and Molecular Physiology | Genetics and Genomics | Molecular Genetics


Aneuploidy, or an aberrant karyotype, results in developmental disabilities and has been implicated in tumorigenesis. However, the causes of aneuploidy-induced phenotypes and the consequences of aneuploidy on cell physiology remain poorly understood. We have performed a metaanalysis on gene expression data from aneuploid cells in diverse organisms, including yeast, plants, mice, and humans. We found highly related gene expression patterns that are conserved between species: genes that were involved in the response to stress were consistently upregulated, and genes associated with the cell cycle and cell proliferation were downregulated in aneuploid cells. Within species, different aneuploidies induced similar changes in gene expression, independent of the specific chromosomal aberrations. Taken together, our results demonstrate that aneuploidies of different chromosomes and in different organisms impact similar cellular pathways and cause a stereotypical antiproliferative response that must be overcome before transformation.

Rights and Permissions

Citation: Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12644-9. doi: 10.1073/pnas.1209227109. Link to article on publisher's site


At the time of publication, Eduardo Torres was not yet affiliated with the University of Massachusetts Medical School.

Related Resources

Link to Article in PubMed

PubMed ID