Journal Article

Y-Chromosome-Specific Microsatellite Mutation Rates Re-Examined Using a Minisatellite, MSY1

Mark A. Jobling, Evelyne Heyer, Patrick Dieltjes and Peter de Knijff

in Human Molecular Genetics

Volume 8, issue 11, pages 2117-2120
Published in print October 1999 | ISSN: 0964-6906
Published online October 1999 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/8.11.2117
Y-Chromosome-Specific Microsatellite Mutation Rates Re-Examined Using a Minisatellite, MSY1

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Polymorphic Y-chromosome-specific microsatellites are becoming increasingly used in evolutionary and forensic studies and, in particular, in dating the origins of Y-chromosomal lineages. Previously, haplotyping of Y chromosomes from males belonging to a set of deep-rooting pedigrees was used to estimate a conservative average Y-chromosomal microsatellite mutation rate of 2.1 × 10−3 per locus per generation. A number of males showed multiple differences in haplotypes compared with other males within their pedigrees, and these were excluded from the calculation of this estimate, on the grounds that non-paternity was a more probable explanation than multiple mutation within a lineage. Here we reanalyse the pedigrees using an independent highly polymorphic system, the Y-specific minisatellite, MSY1. This supports the hypothesis of non-paternity where more than one microsatellite difference was observed, provides further support for the previously deduced microsatellite mutation rate and throws light on the mutation dynamics of MSY1 itself, suggesting that single-step changes are not the only mode of mutation.

Journal Article.  2991 words.  Illustrated.

Subjects: Genetics and Genomics

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