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.

Author affiliations

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

Correspondence to: Andrés Aguilera¹ Email: aguilo@us.es

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