title: Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.
abstract: Nonrecombining Y-chromosomal microsatellites (Y-STRs) are widely used to infer population histories, discover genealogical relationships, and identify males for criminal justice purposes. Although a key requirement for their application is reliable mutability knowledge, empirical data are only available for a small number of Y-STRs thus far. To rectify this, we analyzed a large number of 186 Y-STR markers in nearly 2000 DNA-confirmed father-son pairs, covering an overall number of 352,999 meiotic transfers. Following confirmation by DNA sequence analysis, the retrieved mutation data were modeled via a Bayesian approach, resulting in mutation rates from 3.78 × 10(-4) (95% credible interval [CI], 1.38 × 10(-5) - 2.02 × 10(-3)) to 7.44 × 10(-2) (95% CI, 6.51 × 10(-2) - 9.09 × 10(-2)) per marker per generation. With the 924 mutations at 120 Y-STR markers, a nonsignificant excess of repeat losses versus gains (1.16:1), as well as a strong and significant excess of single-repeat versus multirepeat changes (25.23:1), was observed. Although the total repeat number influenced Y-STR locus mutability most strongly, repeat complexity, the length in base pairs of the repeated motif, and the father's age also contributed to Y-STR mutability. To exemplify how to practically utilize this knowledge, we analyzed the 13 most mutable Y-STRs in an independent sample set and empirically proved their suitability for distinguishing close and distantly related males. This finding is expected to revolutionize Y-chromosomal applications in forensic biology, from previous male lineage differentiation toward future male individual identification.
authors.affiliation: Department of Forensic Molecular Biology, Erasmus University Medical Center Rotterdam, The Netherlands.
authors.forename: Kaye N
authors.initials: KN
authors.lastname: Ballantyne
authors.forename: Miriam
authors.initials: M
authors.lastname: Goedbloed
authors.forename: Rixun
authors.initials: R
authors.lastname: Fang
authors.forename: Onno
authors.initials: O
authors.lastname: Schaap
authors.forename: Oscar
authors.initials: O
authors.lastname: Lao
authors.forename: Andreas
authors.initials: A
authors.lastname: Wollstein
authors.forename: Ying
authors.initials: Y
authors.lastname: Choi
authors.forename: Kate
authors.initials: K
authors.lastname: van Duijn
authors.forename: Mark
authors.initials: M
authors.lastname: Vermeulen
authors.forename: Silke
authors.initials: S
authors.lastname: Brauer
authors.forename: Ronny
authors.initials: R
authors.lastname: Decorte
authors.forename: Micaela
authors.initials: M
authors.lastname: Poetsch
authors.forename: Nicole
authors.initials: N
authors.lastname: von Wurmb-Schwark
authors.forename: Peter
authors.initials: P
authors.lastname: de Knijff
authors.forename: Damian
authors.initials: D
authors.lastname: Labuda
authors.forename: Hélène
authors.initials: H
authors.lastname: Vézina
authors.forename: Hans
authors.initials: H
authors.lastname: Knoblauch
authors.forename: Rüdiger
authors.initials: R
authors.lastname: Lessig
authors.forename: Lutz
authors.initials: L
authors.lastname: Roewer
authors.forename: Rafal
authors.initials: R
authors.lastname: Ploski
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Dobosz
authors.forename: Lotte
authors.initials: L
authors.lastname: Henke
authors.forename: Jürgen
authors.initials: J
authors.lastname: Henke
authors.forename: Manohar R
authors.initials: MR
authors.lastname: Furtado
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D044707:Forensic Sciences / Q000379:methods*; D056426:Genetic Loci / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010331:Paternal Age
chemical_list: D005819:Genetic Markers
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