title: Simple mathematical model of pathologic microsatellite expansions: when self-reparation does not work.
abstract: We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite expansions are always self-repairing. If these probabilities are different, self-reparation does not work. Mosaicism, anticipation and reverse mutation cases are discussed in the framework of the model. We explain these phenomena and provide some theoretical evidence for their properties, for example, the rarity of reverse mutations.
authors.affiliation: School of Computational Sciences, George Mason University, MS 5C3, Fairfax, VA 22030, USA. borisv@lk.net <borisv@lk.net>
authors.forename: Boris
authors.initials: B
authors.lastname: Veytsman
authors.forename: Leila
authors.initials: L
authors.lastname: Akhmadeyeva
mesh_terms: D020132:Anticipation, Genetic; D004260:DNA Repair; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D008957:Models, Genetic; D009030:Mosaicism; D009154:Mutation