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Genome Instability


Instructor: Don Fox
Summary: Protection of the genome is key to maintaining normal cellular function. Numerous safeguards exist to detect genome alterations and potential cell division errors, thus maintaining a stable genome. Failure in such regulation leads to genome instability. A variety of human diseases are derived from genome instability, including diseases of aneuploidy such as trisomies. Genome instability is also present in cancer, and a current debate in the literature is whether genome instability is a major cause, rather than a consequence, of cancer.

In this module, we will take a look at recent literature on causes and consequences of genome instability in various model systems and in human disease. In the six papers we will discuss, the wide range of concepts discussed will include cell cycle checkpoints, aneuploidy, and cancer genomics. Methods used in the papers will similarly cover a wide range of genetic, molecular, and cell biological assays. Most importantly, this class is geared towards developing critical literature analysis skills.


Gordon DJ, Reiso B, and Pellman, D. (2012). Causes and consequences of aneuploidy in cancer. Nature Reviews Genetics 13, 189-­‐203.
Optional reading (if further background is needed): Alberts et al, Chapter 17 (The cell cycle).