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 tetranucleot...

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Bibliographic Details
Published in:Human molecular genetics 1997-05, Vol.6 (5), p.799-803
Main Authors: Heyer, Evelyne, Puymirat, Jack, Dieltjes, Patrick, Bakker, Egbert, de Knijff, Peter
Format: Article
Language:English
Subjects:
Biological and medical sciences
Classical genetics, quantitative genetics, hybrids
Fundamental and applied biological sciences. Psychology
Gene Frequency
Genetics of eukaryotes. Biological and molecular evolution
Genetics, Population
Human
Humans
Male
Microsatellite Repeats
Models, Genetic
Mutation
Pedigree
Polymorphism, Genetic
Quebec
Y Chromosome
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Summary: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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/6.5.799