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

Nourdine Bouzekri, Paul G. Taylor, Michael F. Hammer, Mark A. Jobling

Research output: Contribution to journalArticle

30 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)655-659
Number of pages5
JournalHuman molecular genetics
Volume7
Issue number4
DOIs
StatePublished - Apr 1 1998

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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