Microsatellite Mutation Models

Mutation and migration in models of microsatellite evolution∗

Dynamic and statistical properties of generalized stepwise mutation models are described and used to compare data on human di-, tri-, and tetranucleotide polymorphisms. The time-dependent behavior of an island model with stepwise mutation is analyzed and its equilibrium properties used to estimate the product Nm of the population size and the migration rate. Population statistics are derived fr...

Dynamics of microsatellite divergence under stepwise mutation and proportional slippage/point mutation models.

Recently Kruglyak, Durrett, Schug, and Aquadro showed that microsatellite equilibrium distributions can result from a balance between polymerase slippage and point mutations. Here, we introduce an elaboration of their model that keeps track of all parts of a perfect repeat and a simplification that ignores point mutations. We develop a detailed mathematical theory for these models that exhibits...

Models of Microsatellite Evolution

Likelihood-based estimation of microsatellite mutation rates.

Microsatellites are widely used in genetic analyses, many of which require reliable estimates of microsatellite mutation rates, yet the factors determining mutation rates are uncertain. The most straightforward and conclusive method by which to study mutation is direct observation of allele transmissions in parent-child pairs, and studies of this type suggest a positive, possibly exponential, r...

Joint Inference of Microsatellite Mutation Models, Population History and Genealogies Using Transdimensional Markov Chain Monte Carlo

We provide a framework for Bayesian coalescent inference from microsatellite data that enables inference of population history parameters averaged over microsatellite mutation models. To achieve this we first implemented a rich family of microsatellite mutation models and related components in the software package BEAST. BEAST is a powerful tool that performs Bayesian MCMC analysis on molecular...