Simple Repeats

Simple sequences (microsatellites) are a ubiquitous component of the genome of higher organisms. Their high mutation rate provides the basis for the successful use of microsatellites as genetic markers.

Keywords: microsatellite; DNA replication slippage; simple sequences; cryptic simplicity

Figure 1. Dot plot of a cryptic simple sequence. (a) Dot plot using the partial human coagulation factor IX (F9) coagulation factor IX gene. Only identities of at least 75% in an 8-base-pair window are shown. (b) Alignment of a region off the diagonal that shows sequence similarity.
Figure 2. Microsatellite nomenclature. The uninterrupted microsatellite consists of a perfect repetition of CT di-nucleotides, the imperfect microsatellite has a C substituted by a A, the interrupted microsatellite has an insertion of three As, which interrupt the CT repeat, the composite repeat consists of two different juxtaposed repeats.
Figure 3. Model of DNA replication slippage adding (left) or removing (right) one repeat unit. (1) First round of DNA replication. (2) DNA slippage, causing one repeat unit to loop out; the dashed arrow indicates the direction of DNA slippage. (3) DNA synthesis continues without repair of the loop. (4) Second round of DNA replication leads to the addition or deletion of one repeat unit in one of the strands.
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 Further Reading
    Ellegren H (2000) Microsatellite mutations in the germline: implications for evolutionary inference. Trends in Genetics 16: 551–558.
    book Goldstein D and Schlötterer C (1999) Microsatellites: Evolution and Applications. Oxford, UK: Oxford University Press.
    Schlötterer C (2000) Evolutionary dynamics of microsatellite DNA. Chromosoma 109: 365–371.
    Tóth G, Gáspári Z and Jurka J (2000) Microsatellites in different eukaryotic genomes: survey and analysis. Genome Research 10: 967–981.
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How to Cite close
Schlötterer, Christian(Sep 2005) Simple Repeats. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005066]