Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis.

ABSTRACT: Mutation at most human minisatellites is driven by complex interallelic processes that give rise to a high degree of length polymorphism and internal structural variation. MSY1, the only highly variable minisatellite on the non-recombining region of the Y chromosome, is constitutively haploid and therefore precluded from interallelic interactions, yet maintains high diversity in both length and structure. To investigate the basis of its mutation processes, an unbiased structural analysis of >500 single-molecule MSY1 PCR products from matched sperm and blood samples from a single donor was undertaken. The overall mutation frequencies in sperm and blood DNAs were not significantly different, at 2.68% and 1.88%, respectively. Sperm DNA showed significantly more length mutants than blood DNA,

SUBMITTER: Shanks ME 

PROVIDER: S-EPMC2599865 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature