Novel mutation processes in the evolution of a haploid minisatellite, MSY1: array homogenization without homogenization

Hum Mol Genet. 1998 Apr;7(4):655-9. doi: 10.1093/hmg/7.4.655.

Abstract

The Y-specific locus MSY1 is the only known haploid minisatellite, and displays an extremely high degree of structural diversity which can be assayed by minisatellite variant repeat PCR (MVR-PCR). One group of alleles, in an African-specific class of Y chromosomes (haplogroup 8), behaves unusually in the conventional MVR-PCR assay, and sequencing demonstrates that this is because repeat units in these alleles contain an additional base substitution. We have designed a new MVR-PCR system to detect these novel variants, and show firstly that they are confined to the haplogroup 8 chromosomes, and secondly that the base substitution has spread through these arrays without the elimination of existing repeat variants. The sharing of a particular base substitution between otherwise distinct repeat types in these alleles represents evidence of a remarkable mutation process in their evolutionary history, in which the variant base must have been spread by a biased repair mechanism operating in very small patches within heteroduplexes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Variation
  • Haploidy
  • Haplotypes
  • Humans
  • Minisatellite Repeats* / genetics
  • Nigeria
  • Phylogeny
  • Polymerase Chain Reaction
  • Y Chromosome / genetics*