Human Microsatellites: Mutation and Evolution

Human Microsatellites: Mutation and Evolution Microsatellites (MSs) are short tandem DNA repeats with the repetitive motif of two to six nucleotides, forming tracts up to hundreds of nucleotides long. Notwithstanding the active use of MSs in genetic studies of various biological problems, the reasons for their wide occurrence in the genome, their possible functions, and mutational behavior are still unclear. The mutation rate in MS repeats is on average several orders of magnitude higher than in the remaining DNA, which allows for direct estimation of evolutionary transformation rate in nucleotide sequences of the genome. Mutation process in MSs is highly heterogeneous, with distinct differences between species; furthermore, within a species it differs among loci with different repeat size, among alleles of one locus, and among individuals of different sex and age. Most MS mutations are caused by DNA slippage during replication but the probability of this event depends on the locus. In this review, a number of models of MS evolution are discussed, which account for the relationship between mutation rate and allele size, different mutation direction in alleles of different size, and the appearance of point mutations within repeat tracts restricting allele size. The MS evolution is considered mainly in the context of selective neutrality, although there is evidence showing functional significance of some variants of tandem repeats and thus their possible selective value. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Human Microsatellites: Mutation and Evolution

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Publisher
Kluwer Academic Publishers-Plenum Publishers
Copyright
Copyright © 2004 by MAIK “Nauka/Interperiodica”
Subject
Biomedicine; Human Genetics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1023/B:RUGE.0000044750.21421.65
Publisher site
See Article on Publisher Site

Abstract

Microsatellites (MSs) are short tandem DNA repeats with the repetitive motif of two to six nucleotides, forming tracts up to hundreds of nucleotides long. Notwithstanding the active use of MSs in genetic studies of various biological problems, the reasons for their wide occurrence in the genome, their possible functions, and mutational behavior are still unclear. The mutation rate in MS repeats is on average several orders of magnitude higher than in the remaining DNA, which allows for direct estimation of evolutionary transformation rate in nucleotide sequences of the genome. Mutation process in MSs is highly heterogeneous, with distinct differences between species; furthermore, within a species it differs among loci with different repeat size, among alleles of one locus, and among individuals of different sex and age. Most MS mutations are caused by DNA slippage during replication but the probability of this event depends on the locus. In this review, a number of models of MS evolution are discussed, which account for the relationship between mutation rate and allele size, different mutation direction in alleles of different size, and the appearance of point mutations within repeat tracts restricting allele size. The MS evolution is considered mainly in the context of selective neutrality, although there is evidence showing functional significance of some variants of tandem repeats and thus their possible selective value.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Oct 29, 2004

References

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