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Genome instability: a mechanistic view of its causes and consequences. Export

Nat Rev Genet (29 January 2008)

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instability

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Genomic instability in the form of mutations and chromosome rearrangements is usually associated with pathological disorders, and yet it is also crucial for evolution. Two types of elements have a key role in instability leading to rearrangements: those that act in trans to prevent instability - among them are replication, repair and S-phase checkpoint factors - and those that act in cis - chromosomal hotspots of instability such as fragile sites and highly transcribed DNA sequences. Taking these elements as a guide, we review the causes and consequences of instability with the aim of providing a mechanistic perspective on the origin of genomic instability.


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