Human Molecular Genetics, Vol 5, 1823-1833, Copyright © 1996 by Oxford University Press
CA May, AJ Jeffreys and JA Armour
Many tandemly repeated minisatellite loci display extreme levels of length
variation as a consequence of high rates of spontaneous germline mutation
altering repeat copy number. Direct screening for new allele lengths by
small-pool PCR has shown that instability at the human minisatellite locus
MS205 (D16S309) is largely germline specific and usually results in the
gain or loss of just a few repeat units. Structural analysis of the order
of variant repeats has shown that these events occur preferentially at one
end of the tandem array and can result in complex rearrangements including
the inter-allelic transfer of repeat units. In contrast, putative mutants
recovered from somatic DNA occur at a substantially lower rate and are
simple and non- polar in nature. Germline mutation rates vary considerably
between alleles, consistent with regulation occurring in cis. Although
examination of DNA sequence polymorphisms immediately flanking the
minisatellite reveals no definitive associations with germline mutation
rate variation, differences in rate may be paralleled by changes in
mutation spectrum. These findings help to explain the diversity of MS205
allele structures in modern humans and suggest a common mutation pathway
with some other minisatellites.
ARTICLES
Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309)
Department of Genetics, University of Leicester, UK.
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