Microsatellite Interruptions Stabilize Primate Genomes and Exist as Population-Specific Single Nucleotide Polymorphisms within Individual Human Genomes

@inproceedings{Ananda2014MicrosatelliteIS,
  title={Microsatellite Interruptions Stabilize Primate Genomes and Exist as Population-Specific Single Nucleotide Polymorphisms within Individual Human Genomes},
  author={Guruprasad Ananda and Suzanne E. Hile and Amanda Breski and Yanli Wang and Yogeshwar D Kelkar and Kateryna D. Makova and K. A. Eckert},
  booktitle={PLoS genetics},
  year={2014}
}
Interruptions of microsatellite sequences impact genome evolution and can alter disease manifestation. However, human polymorphism levels at interrupted microsatellites (iMSs) are not known at a genome-wide scale, and the pathways for gaining interruptions are poorly understood. Using the 1000 Genomes Phase-1 variant call set, we interrogated mono-, di-, tri-, and tetranucleotide repeats up to 10 units in length. We detected ∼26,000-40,000 iMSs within each of four human population groups… CONTINUE READING
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Modeling the adenomatous polyposis coli tumor suppressor gene sequence , we observed that a single base substitution interruption reduced strand slippage error rates five- to 50-fold , relative to a perfect repeat , during synthesis by DNA polymerases α , β , or η. Computationally , we demonstrate that iMSs arise primarily by base substitution mutations within individual human genomes .
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