S. Kruglyak et al., EQUILIBRIUM DISTRIBUTIONS OF MICROSATELLITE REPEAT LENGTH RESULTING FROM A BALANCE BETWEEN SLIPPAGE EVENTS AND POINT MUTATIONS, Proceedings of the National Academy of Sciences of the United Statesof America, 95(18), 1998, pp. 10774-10778
We describe and test a Markov chain model of microsatellite evolution
that can explain the different distributions of microsatellite lengths
across different organisms and repeat motifs, Two key features of thi
s model are the dependence of mutation rates on microsatellite length
and a mutation process that includes both strand slippage and point mu
tation events. We compute the stationary distribution of allele length
s under this model and use it to fit DNA data for di-, tri-, and tetra
nucleotide repeats in humans, mice, fruit flies, and yeast, The best f
it results lead to slippage rate estimates that are highest in mice, f
ollowed by humans, then yeast, and then fruit flies, Within each organ
ism, the estimates are highest in di-, then tri-, and then tetranucleo
tide repeats. Our estimates are consistent with experimentally determi
ned mutation rates from other studies. The results suggest that the di
fferent length distributions among organisms and repeat motifs can be
explained by a simple difference in slippage rates and that selective
constraints on length need not be imposed.