title: A comprehensive survey of human Y-chromosomal microsatellites.
abstract: 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 > or = 3 and a repeat count of > or = 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 (approximately 34%). For complex microsatellites, the largest proportion of the variance (again, approximately 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.
authors.affiliation: Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany. m.kayser@erasmusmc.nl
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
authors.forename: Ralf
authors.initials: R
authors.lastname: Kittler
authors.forename: Axel
authors.initials: A
authors.lastname: Erler
authors.forename: Minttu
authors.initials: M
authors.lastname: Hedman
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Lee
authors.forename: Aisha
authors.initials: A
authors.lastname: Mohyuddin
authors.forename: S Qasim
authors.initials: SQ
authors.lastname: Mehdi
authors.forename: Zoë
authors.initials: Z
authors.lastname: Rosser
authors.forename: Mark
authors.initials: M
authors.lastname: Stoneking
authors.forename: Mark A
authors.initials: MA
authors.lastname: Jobling
authors.forename: Antti
authors.initials: A
authors.lastname: Sajantila
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D019143:Evolution, Molecular; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*