title: Single amino acid and trinucleotide repeats: function and evolution.
abstract: 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.
authors.affiliation: Mental Health Research Institute, The University of Melbourne, Parkville, Victoria, Australia. nfaux@unimelb.edu.au
authors.forename: Noel
authors.initials: N
authors.lastname: Faux
mesh_terms: D000596:Amino Acids / Q000235:genetics*; D000818:Animals; D001482:Base Composition; D005075:Biological Evolution; D003062:Codon; D015894:Genome, Human; D006801:Humans; D019636:Neurodegenerative Diseases / Q000235:genetics*; D010455:Peptides / Q000235:genetics*; D012641:Selection, Genetic; D019680:Trinucleotide Repeat Expansion
chemical_list: D000596:Amino Acids; D003062:Codon; D010455:Peptides; C019529:polyalanine; C097188:polyglutamine