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Activation of autophagy in cells with abnormal karyotype

The presence of even one extra chromosome severely impairs cellular growth. This effect of aneuploidy (a term describing chromosome numbers deviating from multiples of haploid chromosome content) has been observed in many different organisms, from yeast to humans. Accordingly, abnormal karyotypes are detected in nearly 30% of spontaneously aborted embryos. The rarely surviving infants, such as with trisomy of chromosome 21, are severely handicapped. The causes remain enigmatic, although recent studies exploiting yeast and mouse models provided first glimpses of the imbalanced inner life of aneuploid cells. Using comparative genomics, transcriptomics and proteomics we have analyzed the fate of the transcripts and proteins coded on the extra chromosomes as well as the general response to aneuploidy in human cells.