title: Insertions, substitutions, and the origin of microsatellites.
abstract: This paper uses data from the Human Gene Mutation Database to contrast two hypotheses for the origin of short DNA repeats: substitutions and insertions that duplicate adjacent sequences. Because substitutions are much more common than insertions, they are the dominant source of new 2-repeat loci. Insertions are rarer, but over 70% of the 2-4 base insertion mutations are duplications of adjacent sequences, and over half of these generate new repeat regions. Insertions contribute fewer new repeat loci than substitutions, but their relative importance increases rapidly with repeat number so that all new 4-5-repeat mutations come from insertions, as do all 3-repeat mutations of tetranucleotide repeats. This suggests that the process of repeat duplication that dominates microsatellite evolution at high repeat numbers is also important very early in microsatellite evolution. This result sheds light on the puzzle of the origin of short tandem repeats. It also suggests that most short insertion mutations derive from a slippage-like process during replication.
authors.affiliation: Department of Ecology and Evolutionary Biology, Rice University, PO Box 1892, Houston, TX 77251-1892, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Zhu
authors.forename: J E
authors.initials: JE
authors.lastname: Strassmann
authors.forename: D C
authors.initials: DC
authors.lastname: Queller
mesh_terms: D000818:Animals; D001483:Base Sequence; D004261:DNA Replication / Q000235:genetics*; D004251:DNA Transposable Elements / Q000235:genetics*; D016208:Databases, Factual; D004641:Emigration and Immigration; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016364:Reading Frames / Q000235:genetics*; D020080:Tandem Repeat Sequences / Q000235:genetics*; D014863:Wasps / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements