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Inter-allelic interactions play a major role in microsatellite evolution.

William Amos1, Danica Kosanović2, Anders Eriksson2

  • 1Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK w.amos@zoo.cam.ac.uk.

Proceedings. Biological Sciences
|October 30, 2015
PubMed
Summary

Microsatellite mutations, often involving single repeat gains or losses, depend on allele length. Interactions between homologous alleles in heterozygotes, not independent mutation, explain these mutation patterns.

Keywords:
allelic interactionsheterozygote instabilitymicrosatellitemutationmutation biasshort tandem repeat

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Area of Science:

  • Genetics
  • Molecular Biology
  • Evolutionary Biology

Background:

  • Microsatellites are repetitive DNA sequences prone to mutations.
  • Previous studies suggested simple gain/loss of repeats as the primary mutation mechanism.

Purpose of the Study:

  • To investigate the factors influencing microsatellite mutation rates and biases.
  • To determine if independent mutation models adequately explain observed microsatellite evolution patterns.

Main Methods:

  • Analysis of microsatellite mutations in pedigrees.
  • Plotting mutation data on standardized scales based on allele length.
  • Developing and testing mutation models incorporating allele interactions.

Main Results:

  • Microsatellite mutation rate and bias are strongly dependent on allele length relative to other alleles at the same locus.
  • Independent mutation models fail to explain these length-dependent patterns.
  • Interactions between homologous alleles in heterozygous individuals are crucial for explaining mutation dynamics, with longer alleles potentially being more mutable or prone to contraction.

Conclusions:

  • Microsatellite evolution is influenced by inter-allelic interactions, challenging simple mutation models.
  • Allele length and interactions between homologous chromosomes play a significant role in microsatellite mutation processes.
  • These findings suggest a link between population history and the rate and pattern of microsatellite evolution.