Abstract
Microsatellites (simple sequence repeats, SSRs) still remain popular molecular markers for studying neutral genetic variation. Two alternative models outline how new microsatellite alleles evolve. Infinite alleles model (IAM) assumes that all possible alleles are equally likely to result from a mutation, while stepwise mutation model (SMM) describes microsatellite evolution as stepwise adding or subtracting single repeat units. Genetic relationships between individuals can be analyzed in higher precision when assuming the SMM scenario with allele size differences as a proxy of genetic distance. If population structure is not predetermined in advance, an empirical data analysis usually includes (a) estimating proximity between individual SSR profiles with a selected dissimilarity measure and (b) determining putative genetic structure of a given set of individuals using methods of clustering and/or ordination for the obtained dissimilarity matrix. We developed new dissimilarity indices between SSR profiles of haploid, diploid, or polyploid organisms assuming different mutation models and compared the performance of these indices for determining genetic structure with population data and with simulations. More specifically, we compared SMM with a constant or variable mutation rate at different SSR loci to IAM using data from natural populations of a freshwater bryozoan Cristatella mucedo (diploid), wheat leaf rust Puccinia triticina (dikaryon), and wheat powdery mildew Blumeria graminis (monokaryon). We show that inferences about population genetic structure are sensitive to the assumed mutation model. With simulations, we found that Bruvo's distance performs generally poorly, while the new metrics are capturing the differences in the genetic structure of the populations.
Highlights
Microsatellites still remain popular molecular markers for study of neutral genetic variation
Infinite alleles model (IAM) assumes that all possible al‐ leles are likely to result from a mutation, while stepwise mutation model (SMM) describes microsatellite evolution as stepwise adding or subtracting single repeat units
Stepwise mutation model (SMM) and two‐phase model (TPM) describe microsatellite evolution as some combination of a regular stepwise change of adding or subtracting single or a few repeat units, while infinite alleles model (IAM) assumes a random process in which all possible alleles are likely to result from a mutation at a given microsatellite locus
Summary
Microsatellites (simple sequence repeats, SSRs, i.e., tandem repeats of a few nucleotides) still remain popular molecular markers for study of neutral genetic variation. Microsatellite evolution ac‐ cording to the simple SMM assumes that each mutation adds or sub‐ tracts (with equal probability) a single repeat unit, potentially leading to a new allele (Jarne & Lagoda, 1996). Assuming that this type of a random walk reflects the process of evolutionary change in microsatellites, the relative similarity in allele sizes of microsatel‐ lites in two individuals should be a function of the genetic distance between them. Assessment of similarity or dissimilarity between SSR genotypes of individuals might be more powerful if allele sizes were taken into account (SMM or TPM scenario) rather than just comparing numbers of loci at which the individuals have different alleles (IAM scenario)
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