title: Empirical evaluation reveals best fit of a logistic mutation model for human Y-chromosomal microsatellites.
abstract: The rate of microsatellite mutation is dependent upon both the allele length and the repeat motif, but the exact nature of this relationship is still unknown. We analyzed data on the inheritance of human Y-chromosomal microsatellites in father-son duos, taken from 24 published reports and comprising 15,285 directly observable meioses. At the six microsatellites analyzed (DYS19, DYS389I, DYS390, DYS391, DYS392, and DYS393), a total of 162 mutations were observed. For each locus, we employed a maximum-likelihood approach to evaluate one of several single-step mutation models on the basis of the data. For five of the six loci considered, a novel logistic mutation model was found to provide the best fit according to Akaike's information criterion. This implies that the mutation probability at the loci increases (nonlinearly) with allele length at a rate that differs between upward and downward mutations. For DYS392, the best fit was provided by a linear model in which upward and downward mutation probabilities increase equally with allele length. This is the first study to empirically compare different microsatellite mutation models in a locus-specific fashion.
authors.affiliation: Institut für Medizinische Informatik und Statistik, Christian-Albrechts-Universität zu Kiel, 24105 Kiel, Germany. jochens@medinfo.uni-kiel.de
authors.forename: Arne
authors.initials: A
authors.lastname: Jochens
authors.forename: Amke
authors.initials: A
authors.lastname: Caliebe
authors.forename: Uwe
authors.initials: U
authors.lastname: Rösler
authors.forename: Michael
authors.initials: M
authors.lastname: Krawczak
mesh_terms: D041322:Chromosomes, Human, Y; D036262:Empirical Research; D006801:Humans; D016015:Logistic Models; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation