Single Amino Acid and Trinucleotide Repeats

Function and Evolution
  • Noel Faux
Part of the Advances in Experimental Medicine and Biology book series (AEMB)


The most well known effect of single amino acid repeat expansion, beyond a certain threshold, is the development of a specific disease, depending on the protein in which the expansion has occurred. For example, the expansion of the glutamine repeat in huntingtin leads to the debilitating neurodegenerative disease, Huntington’s disease. Similarly, there are a range of other disorders caused by trinucleotide repeat expansions encoding polyglutamine or polyalanine tracts. The age of onset of the polyglutamine-induced neurodegenerative diseases is usually negatively correlated with the length of expanded CAG/glutamine repeat. However, recent studies have given evidence that single amino acid repeats may also play critical roles in normal protein function and that changes in the length of single amino acid repeats is likely to play a beneficial role in evolution. This chapter will look at the prevalence, function and possible role single amino acid repeats have in evolution and other biological processes.


Single Amino Acid Codon Position Trinucleotide Repeat Spinocerebellar Ataxia Amino Acid Repeat 
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Copyright information

© Landes Bioscience and Springer Science+Business Media 2012

Authors and Affiliations

  • Noel Faux
    • 1
    • 2
  1. 1.Mental Health Research InstituteThe University of MelbourneParkvilleAustralia
  2. 2.National Neuroscience FacilityCarltonAustralia

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