Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability

Trends Genet. 2005 May;21(5):272-80. doi: 10.1016/j.tig.2005.03.008.

Abstract

Gene-specific repeat instability is responsible for >36 human diseases. Active instability varies in a tissue-, developmental stage- and locus-specific manner and occurs in both proliferative and non-proliferative cells. In proliferative cells, DNA replication can contribute to repeat instability either by switching the direction of replication, which changes the repeat sequence that serves as the lagging-strand template (origin switching), or by shifting the location of the origin of replication without altering the replication direction (origin shifting). We propose that changes in the dynamics of replication-fork progression, or architecture, will alter the location of the repeat within the single-stranded lagging-strand template, thereby influencing instability (fork shifting). The fork-shift model, which does not require origin relocation, is influenced by cis-elements and trans-factors associated with driving and maintaining replication forks. The fork-shift model can explain some of the complex behaviours of repeat instability because it is dynamic and responsive to variations in epigenomic and locus activity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA Polymerase III / physiology
  • DNA Primers
  • DNA Replication*
  • Genomic Instability
  • Humans
  • Models, Genetic*
  • Mutation / genetics*
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • DNA Primers
  • DNA Polymerase III