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Nat Rev Genet. 2008 Mar;9(3):204-17. doi: 10.1038/nrg2268.

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

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1
Centro Andaluz de Biologia Molecular y Medicina Regenerativa CABIMER, Universidad de Sevilla-CSIC, Avd. Américo Vespucio s/n, 41092 Sevilla, Spain. aguilo@us.es

Abstract

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.

PMID:
18227811
DOI:
10.1038/nrg2268
[Indexed for MEDLINE]
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