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Mutation processes at human minisatellites
Author(s) -
Jeffreys Alec J.,
Allen Maxine J.,
Armour John A. L.,
Collick Andrew,
Dubrova Yuri,
Fretwell Neale,
Guram Tara,
Jobling Mark,
May Celia A.,
Neil David L.,
Neumann Rita
Publication year - 1995
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.11501601261
Subject(s) - minisatellite , mutation , computational biology , genetics , biology , evolutionary biology , microsatellite , allele , gene
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.