Literature DB >> 9378111

Spontaneous and induced minisatellite instability.

A J Jeffreys1, P Bois, J Buard, A Collick, Y Dubrova, C R Hollies, C A May, J Murray, D L Neil, R Neumann, J D Stead, K Tamaki, J Yardley.   

Abstract

Minisatellites provide not only the basis for DNA fingerprinting and DNA profiling but also extremely informative systems for analysing processes of tandem repeat turnover in the human genome. Minisatellite instability appears to involve distinct mutation processes in somatic and germline cells; in the germline, mutation is frequently dominated by inter-allelic conversion-like events most likely occurring at meiosis and apparently regulated by cis-acting mutation initiator elements. Attempts to define these initiators in transgenic mice have so far been thwarted by what appears to be a major human/mouse barrier to the inter-species transfer of repeat instability. Minisatellites not only show high frequency spontaneous mutation in the germline, but also appear to be very sensitive to mutation induction by ionizing radiation, both in experimentally irradiated mice and in human populations exposed following the Chernobyl disaster; the mechanisms of mutation induction by radiation remain enigmatic.

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Year:  1997        PMID: 9378111     DOI: 10.1002/elps.1150180903

Source DB:  PubMed          Journal:  Electrophoresis        ISSN: 0173-0835            Impact factor:   3.535


  6 in total

1.  Evolutionary fate of an unstable human minisatellite deduced from sperm-mutation spectra of individual alleles.

Authors:  Jérôme Buard; Charles Brenner; Alec J Jeffreys
Journal:  Am J Hum Genet       Date:  2002-02-21       Impact factor: 11.025

2.  Influences of array size and homogeneity on minisatellite mutation.

Authors:  J Buard; A Bourdet; J Yardley; Y Dubrova; A J Jeffreys
Journal:  EMBO J       Date:  1998-06-15       Impact factor: 11.598

3.  Determining microsatellite genotyping reliability and mutation detection ability: an approach using small-pool PCR from sperm DNA.

Authors:  Anna J Macdonald; Stephen D Sarre; Nancy N Fitzsimmons; Nicola Aitken
Journal:  Mol Genet Genomics       Date:  2010-10-19       Impact factor: 3.291

Review 4.  Air pollution and mutations in the germline: are humans at risk?

Authors:  Christopher M Somers; David N Cooper
Journal:  Hum Genet       Date:  2008-12-27       Impact factor: 4.132

5.  Instability of (GATA)n microsatellite loci in the parthenogenetic Caucasian rock lizard Darevskia unisexualis (Lacertidae).

Authors:  O N Tokarskaya; I A Martirosyan; T N Badaeva; D N Malysheva; V I Korchagin; I S Darevsky; F D Danielyan; A P Ryskov
Journal:  Mol Genet Genomics       Date:  2003-11-14       Impact factor: 3.291

6.  Mutation at the human D1S80 minisatellite locus.

Authors:  Kuppareddi Balamurugan; Martin L Tracey; Uwe Heine; George C Maha; George T Duncan
Journal:  ScientificWorldJournal       Date:  2012-05-03
  6 in total

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