title: Mutation processes at human minisatellites.
abstract: Minisatellites provide one of the most experimentally tractable systems for studying tandem repeat instability in man. Analysis of mutation processes has been greatly aided by the development of single molecule methods for recovering de novo mutants, and of techniques for exploring allele structure in detail. Application of these approaches to man has shown that minisatellites do not primarily mutate by processes such as replication slippage and unequal crossover intrinsic to the tandem repeat array. Instead, germline repeat instability is largely regulated by cis-acting elements near the array and involves unexpectedly complex processes of gene conversion, of potential relevance to the biology of meiosis. These processes can be explored both in humans and, in principle, in transgenic mouse models of human repeat instability.
authors.affiliation: Department of Genetics, University of Leicester, UK.
authors.forename: A J
authors.initials: AJ
authors.lastname: Jeffreys
authors.forename: M J
authors.initials: MJ
authors.lastname: Allen
authors.forename: J A
authors.initials: JA
authors.lastname: Armour
authors.forename: A
authors.initials: A
authors.lastname: Collick
authors.forename: Y
authors.initials: Y
authors.lastname: Dubrova
authors.forename: N
authors.initials: N
authors.lastname: Fretwell
authors.forename: T
authors.initials: T
authors.lastname: Guram
authors.forename: M
authors.initials: M
authors.lastname: Jobling
authors.forename: C A
authors.initials: CA
authors.lastname: May
authors.forename: D L
authors.initials: DL
authors.lastname: Neil
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D005554:Forensic Medicine / Q000379:methods*; D005816:Genetic Complementation Test; D006801:Humans; D008297:Male; D051379:Mice; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D013094:Spermatozoa / Q000502:physiology / Q000528:radiation effects