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DNA Dinucleotide Evolution in Humans: Fitting Theory to Facts
Alexander Renwicka, Leslea Davisona, Heidi Spratta, J. Patrick Kinga, and Marek Kimmelaa Department of Statistics, Rice University, Houston, Texas 77251
Corresponding author: Marek Kimmel, Department of Statistics, Rice University, 6100 Main St., MS 138, Houston, TX 77251., kimmel{at}rice.edu (E-mail)
Communicating editor: N. TAKAHATA
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.
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