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.

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Persistent URL dx.doi.org/10.1016/j.ajhg.2010.08.006, hdl.handle.net/1765/27344
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Ballantyne, K, Goedbloed, M.A, Fang, R.N, Schaap, O, Lao Grueso, O, Wollstein, A, … Kayser, M.H. (2010). Mutability of Y-chromosomal microsatellites: Rates, characteristics, molecular bases, and rorensic implications. American Journal of Human Genetics, 87(3), 341–353. doi:10.1016/j.ajhg.2010.08.006