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Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

Nature Genetics volume 8, pages 162–170 (1994)Cite this article

Abstract

Human minisatellite mutation in the male germline frequently involves complex inter-allelic 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.

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Author notes

  1. Darren G. Monckton

    Present address: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

  2. Annette MacLeod

    Present address: Wellcome Unit of Molecular Parasitology, Glasgow University, Bearsden Road, Glasgow, G61 1QH, UK

Authors and Affiliations

  1. Department of Genetics, University of Leicester, Leicester, LE1 7RH, UK

    Darren G. Monckton, Rita Neumann, Tara Guram, Neale Fretwell, Annette MacLeod & Alec J. Jeffreys

  2. Department of Legal Medicine, Nagoya University School of Medicine, Nagoya, 466, Japan

    Keiji Tamaki

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Monckton, D., Neumann, R., Guram, T. et al. Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism. Nat Genet 8, 162–170 (1994). https://doi.org/10.1038/ng1094-162

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