Effects of aneuploidy on cell behaviour and function

Aneuploidy, a genomic alternation characterized by deviations in the copy number of chromosomes, affects organisms from early development through to aging. Although it is a main cause of human pregnancy loss and a hallmark of cancer, how aneuploidy affects cellular function has been elusive. The last two decades have seen rapid advances in the understanding of the causes and consequences of aneuploidy at the molecular and cellular levels. These studies have uncovered effects of aneuploidy that can be beneficial or detrimental to cells and organisms in an environmental context-dependent and karyotype-dependent manner. Aneuploidy also imposes general stress on cells that stems from an imbalanced genome and, consequently, also an imbalanced proteome. These insights provide the fundamental framework for understanding the impact of aneuploidy in genome evolution, human pathogenesis and drug resistance. Aneuploidy affects organisms from early development through to aging and is a cause of pregnancy loss and cancer. Recent studies have increased our understanding of its mechanisms and how it can be both beneficial and detrimental to cells and organisms, depending on the karyotype and external cues. These insights shed light on its roles in human pathogenesis and on genome evolution.

Automated summary

Aneuploidy, characterized by deviations in the copy number of chromosomes, affects organisms from early development through to aging and is a main cause of human pregnancy loss and cancer. Recent studies have increased our understanding of its mechanisms and how it can be both beneficial and detrimental, depending on the karyotype and external cues. These insights shed light on its roles in human pathogenesis and genome evolution.