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MBE Advance Access published online on October 6, 2003
Molecular Biology and Evolution, doi:10.1093/molbev/msg242
Molecular Biology and Evolution © Society for Molecular Biology and Evolution 2003; all rights reserved
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Accepted August 9, 2003
© 2003 Society for Molecular Biology and Evolution

Original Articles

Single Molecule Analysis of the Hypermutable Tetranucleotide Repeat Locus D21S1245 through Sperm Genotyping: A Heterogeneous Pattern of Mutation but No Clear Male Age Effect

Jesper Brohede 1, Norman Arnheim 2, and Hans Ellegren 1*

1 Department of Evolutionary Biology, Uppsala University, Norbyvägen 18D, SE-752 36 Uppsala, Sweden
2 Molecular and Computational Biology Program, University of Southern California, 835 West 37th Street, Los Angeles, CA 90089-1340

* To whom correspondence should be addressed. E-mail: Hans.Ellegren{at}ebc.uu.se.


  Abstract

Single molecule genotyping of the hypermutable microsatellite locus D21S1245 was used for studying how the rate and pattern of mutation varied between alleles and different age groups. A total of 203 mutation events were scored from the genotyping of DNA corresponding to an estimated 8623 sperm cells from eight different men. Allele-specific mutation rates ranged from 0.007 to 0.052, a heterogeneity partly related to variation in the mutation rate among three allelic lineages identified following allele sequencing. Alleles from these lineages differed in the overall repeat structure of this complex microsatellite locus. Also, the pattern of mutation varied between lineages in that they differed in the relative proportions of expansion and contraction mutations. Surprisingly, a group of four men aged 18-23 years showed a higher mean mutation rate than a group of four men aged 48-56 years. To some extent this can probably be explained by a bias in the distribution of alleles from the three allelic lineages among age groups. However, the absence of a clear male age effect is at odds with the idea of an increasing male mutation rate with age, thought to arise from the continuous replication of germline cells throughout adulthood.

Key Words: microsatellite, male-bias, germline mutation, polymorphism, PCR


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