Human Molecular Genetics, Vol 8, 879-888, Copyright © 1999 by Oxford University Press
K Tamaki, CA May, YE Dubrova and AJ Jeffreys
Human minisatellite B6.7 is a highly variable locus showing extensive
heterozygosity with alleles ranging from six to >500 repeat units.
Paternal and maternal mutation rates to new length alleles were estimated
from pedigrees at 7.0 and 3.9% per gamete, respectively, indicating that
B6.7 is one of the most unstable minisatellites isolated to date. Mutation
at this locus was also analysed by small pool PCR of sperm and blood DNA.
Male germline instability varied from <0.8 to 14% per allele and
increased with tandem array size. In contrast, the frequency of mutants in
somatic (blood) DNA was far lower (<0.5%), consistent with a meiotic
origin of germline mutants. Sperm mutants were further characterized by
minisatellite variant repeat mapping using four major polymorphic sites
within the B6.7 repeats. This highly informative system revealed a wide
variety of changes in allele structure, including simple intra-allelic
duplications and deletions and more complicated inter- and intra-allelic
transfers of repeat blocks, as seen at other human minisatellites. The main
mode of sperm mutation, however, resulted in extremely complex allele
reorganization with evidence of inter-allelic transfer plus the generation
of novel repeats by rearrangement at the sub-repeat level, suggesting that
recombinational instability at B6.7 is a complex multistep process.
ARTICLES
Extremely complex repeat shuffling during germline mutation at human minisatellite B6.7
Department of Genetics, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK. kt12@le.ac.uk
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