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Microsatellite and Trinucleotide-Repeat Evolution: Evidence for Mutational Bias and Different Rates of Evolution in Different Lineages
David C. Rubinsztein, Bill Amos and Gillian Cooper
Philosophical Transactions: Biological Sciences
Vol. 354, No. 1386, Glutamine Repeats and Neurodegenerative Diseases: Molecular Aspects (Jun. 29, 1999), pp. 1095-1099
Published by: Royal Society
Stable URL: http://www.jstor.org/stable/56991
Page Count: 5
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Microsatellites are stretches of repetitive DNA, where individual repeat units comprise one to six bases. These sequences are often highly polymorphic with respect to repeat number and include trinucleotide repeats, which are abnormally expanded in a number of diseases. It has been widely assumed that microsatellite loci are as likely to gain and lose repeats when they mutate. In this review, we present population genetic and empirical data arguing that microsatellites, including normal alleles at trinucleotide-repeat disease loci, are more likely to expand in length when they mutate. In addition, our experiments suggest that the rates of expansion of such sequences differ in related species.
Philosophical Transactions: Biological Sciences © 1999 Royal Society