TY - JOUR
T1 - A comprehensive survey of human Y-chromosomal microsatellites
AU - Kayser, Manfred
AU - Kittler, Ralf
AU - Erler, Axel
AU - Hedman, Minttu
AU - Lee, Andrew C.
AU - Mohyuddin, Aisha
AU - Mehdi, S. Qasim
AU - Rosser, Zoë
AU - Stoneking, Mark
AU - Jobling, Mark A.
AU - Sajantila, Antti
AU - Tyler-Smith, Chris
N1 - Funding Information:
We wish to thank the donors of the DNA samples, Gunter Weiss for statistical advice, Eve Karvinen and Kirsti Höök for technical assistance, and Conover Talbot for help in making the new markers publicly available via the Genome Database (GDB). We are grateful to Qasim Ayub and John Mitchell for useful comments on the work. M.K. is a Heisenberg Fellow of the German Research Council (Deutsche Forschungsgemeinschaft [DFG grant Ka 1413/3-1]). R.K. and A.E. were supported by the German National Merit Foundation (Studienstiftung des Deutschen Volkes). M.A.J. was supported by a Wellcome Trust Senior Fellowship in Basic Biomedical Science (grant 057559). M.K., R.K., A.E., and M.S. all thank the Max Planck Society for support, and A.C.L., A.M., S.Q.M., and C.T.-S. similarly all thank The Wellcome Trust.
PY - 2004/6
Y1 - 2004/6
N2 - We 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. 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 us to investigate the factors influencing their variation. For simple microsatellites, the average repeat count accounted 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 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.
AB - We 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. 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 us to investigate the factors influencing their variation. For simple microsatellites, the average repeat count accounted 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 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.
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U2 - 10.1086/421531
DO - 10.1086/421531
M3 - Article
C2 - 15195656
AN - SCOPUS:2442672659
SN - 0002-9297
VL - 74
SP - 1183
EP - 1197
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 6
ER -