DNA dinucleotide evolution in humans: Fitting theory to facts

Alexander Renwick, Leslea Davison, Heidi Spratt, J. Patrick King, Marek Kimmel

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

We examine length distributions of ∼6000 human dinucleotide microsatellite loci, representing chromosomes 1-22, from the GDB database. Under the stepwise mutation model, results from theory and simulation are compared with the empirical data. In both constant and expanding population scenarios, a simple single-step model with parameters chosen to account for the observed variance of microsatellite lengths produces results inconsistent with the observed heterozygosity and the dispersion of length skewness. Complicating the model by allowing a variable mutation rate accounts for the homozygosity, and introducing a small probability of a large mutation step accounts for the dispersion in skewnesses. We discuss these results in light of the long-term evolution of microsatellites.

Original languageEnglish (US)
Pages (from-to)737-747
Number of pages11
JournalGenetics
Volume159
Issue number2
StatePublished - Nov 17 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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    Renwick, A., Davison, L., Spratt, H., Patrick King, J., & Kimmel, M. (2001). DNA dinucleotide evolution in humans: Fitting theory to facts. Genetics, 159(2), 737-747.