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A Comprehensive Survey of Human Y-Chromosomal Microsatellites

By Manfred Kayser, Ralf Kittler, Axel Erler, Minttu Hedman, Andrew C. Lee, Aisha Mohyuddin, S. Qasim Mehdi, Zoë H. Rosser, Mark Stoneking, Mark A. Jobling, Antti Sajantila and Chris Tyler-Smith


This is the version as printed in the American Journal of Human Genetics by the University of Chicago Press. Their website is have screened the nearly complete DNA sequence of the human Y chromosome for microsatellites (short tandem repeats) that meet the criteria of having a repeat-unit size of ≥3 and a repeat count of ≥8 and thus are likely to be easy to genotype accurately and to be polymorphic. Candidate loci were tested in silico for novelty and for probable Y specificity, and then they were tested experimentally to identify Y-specific loci and to assess their polymorphism.\ud This yielded 166 useful new Y-chromosomal microsatellites, 139 of which were polymorphic, in a sample of eight diverse Y chromosomes representing eight Y-SNP haplogroups. This large sample of microsatellites, together with 28 previously known markers analyzed here—all sharing a common evolutionary history—allowed\ud us to investigate the factors influencing their variation. For simple microsatellites, the average repeat count accounted\ud for the highest proportion of repeat variance (∼34%). For complex microsatellites, the largest proportion of the variance (again, ∼34%) was explained by the average repeat count of the longest homogeneous array, which normally\ud is variable. In these complex microsatellites, the additional repeats outside the longest homogeneous array significantly increased the variance, but this was lower than the variance of a simple microsatellite with the same total repeat count. As a result of this work, a large number of new, highly polymorphic Y-chromosomal microsatellites are now available for population-genetic, evolutionary, genealogical, and forensic investigations

Publisher: University of Chicago Press
Year: 2004
OAI identifier:

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