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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees.

Recently, a set of highly polymorphic chromosome Y specific microsatellites became available for forensic, population genetic and evolutionary studies. However, the lack of a mutation frequency estimate for these loci prevents a reliable application. We therefore used seven chromosome Y tetranucleotide repeat loci to screen 42 males who are descendants from 12 'founding fathers' by a total number of 213 generations. As a result, we were able to estimate an average chromosome Y tetranucleotide mutation frequency of 0.20% (95% CIL 0.05-0.55). This closely matches the often cited Weber and Wong estimate of 0.21% for a set of autosomal tetranucleotide repeats. Expanding the set of microsatellites with two more loci (a tri- and a penta-nucleotide repeat locus) an average chromosome Y microsatellite mutation frequency of 0.21% (95% CIL 0.06-0.49) was found. These estimates suggest that microsatellites on the Y chromosome have mutation frequencies comparable to those on the autosomes. This supports the hypothesis that slippage-generated growth is the driving force behind the microsatellite variability.[1]


  1. Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Heyer, E., Puymirat, J., Dieltjes, P., Bakker, E., de Knijff, P. Hum. Mol. Genet. (1997) [Pubmed]
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