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Amplification of Short Tandem Repeats

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Genomics
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Veronica Searles
James Sikela

Short tandem repeats, also known as microsatellites, consist of sequences of 1-6 base pairs duplicated in tandem in the genome, and are distributed across the genome. They are often used in forensic analysis and in evolutionary studies. Humans have an increase in dinucleotide and trinucleotide repeats compared to chimpanzees, and have longer microsatellites. Compared to great apes overall, humans have increased amplification of specific trinucleotide repeats, have longer microsatellite alleles, and show higher levels of variability in expanding trinucleotide repeats.

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Chromatin-Stained Banding PatternsLikely
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Human-Specific Insertions and Deletions (Indels)True
The Human Difference: 

Amplification
Increased variability

 

References: 

Clark RM, Bhaskar SS, Miyahar M et al (2006). Expansion of GAA trinucleotide repeats in mammals. Genomics 87:57-67.

Andres AM, Soldevila M, Lao O et al (2004). Comparative genetics of functional trinucleotide tandem repeats in humans and apes. J Mol Evol 59:329-339.

Kayser M, Kittler R, Erler A et al (2004). A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet 74(6):1183-1197.

Rubinsztein DC, Amos Q, Leggo J et al (1995). Microsatellite evolution – evidence for directionality and variation in rate between species. Nature Genetics 10:337-343.

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