Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

Nat Genet. 1994 Oct;8(2):162-70. doi: 10.1038/ng1094-162.


Human minisatellite mutation in the male germline frequently involves complex interallelic gene conversion events restricted to one end of the tandem repeat array. Some alleles at minisatellite MS32 show reduced variability in human populations and are associated with a G to C transversion upstream of the array. Analysis of single sperm demonstrated a frequently profound reduction in mutation rate at alleles carrying the C variant. This mutation suppression acts in cis, but does not affect the ability of an allele to act as sequence donor during gene conversion. This mutation rate polymorphism provides strong evidence for elements near the minisatellite that regulate tandem repeat instability.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • African Continental Ancestry Group / genetics
  • Alleles
  • Asian Continental Ancestry Group / genetics
  • Base Sequence
  • DNA, Satellite / genetics*
  • European Continental Ancestry Group / genetics
  • Gene Conversion
  • Haplotypes
  • Humans
  • Japan
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Polymorphism, Genetic*
  • Repetitive Sequences, Nucleic Acid
  • Spermatozoa


  • DNA, Satellite