title: Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees.
abstract: 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.
authors.affiliation: Laboratoire D'Athropologie Biologique CNRS UMR152, Musee de L'Homme, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Heyer
authors.forename: J
authors.initials: J
authors.lastname: Puymirat
authors.forename: P
authors.initials: P
authors.lastname: Dieltjes
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: P
authors.initials: P
authors.lastname: de Knijff
mesh_terms: D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D011792:Quebec; D014998:Y Chromosome