MUTATION PROCESSES AT HUMAN MINISATELLITES

Citation
Aj. Jeffreys et al., MUTATION PROCESSES AT HUMAN MINISATELLITES, Electrophoresis, 16(9), 1995, pp. 1577-1585
Citations number
49
Categorie Soggetti
Biochemical Research Methods
Journal title
ISSN journal
01730835
Volume
16
Issue
9
Year of publication
1995
Pages
1577 - 1585
Database
ISI
SICI code
0173-0835(1995)16:9<1577:MPAHM>2.0.ZU;2-0
Abstract
Minisatellites provide one of the most experimentally tractable system s 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 explori ng allele structure in detail. Application of these approaches to man has shown that minisatellites do not primarily mutate by processes suc h as replication slippage and unequal crossover intrinsic to the tande m repeat array. Instead, germline repeat instability is largely regula ted by cis-acting elements near the array and involves unexpectedly co mplex processes of gene conversion, of potential relevance to the biol ogy of meiosis. These processes can be explored both in humans and, in principle, in transgenic mouse models of human repeat instability.