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PMID: 10434312 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in different lineages.

Rubinsztein DC, Amos B, Cooper G

Abstract

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.

MeSH Terms
Animals Evolution, Molecular Genetic Variation Humans Huntington Disease/genetics Microsatellite Repeats/genetics Mutation Trinucleotide Repeat Expansion/genetics Trinucleotide Repeats/genetics
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Rubinsztein D C
Department of Medical Genetics, Cambridge Institute for Medical Research, Addenbrooke's Hospital, UK. [email protected]
Amos B
Cooper G
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Article Info
Journal
Philosophical transactions of the Royal Society of London. Series B, Biological sciences
Abbr.
Philos Trans R Soc Lond B Biol Sci
ISSN
0962-8436
Published
1999-06-29
Pages
1095-9
Language
English
Region
England
NLM ID
7503623
PMCID
PMC1692610
Subset
IM
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