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| Item Type: | Article |
|---|---|
| Title: | Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications |
| Creators Name: | Ballantyne, K.N., Goedbloed, M., Fang, R., Schaap, O., Lao, O., Wollstein, A., Choi, Y., van Duijn, K., Vermeulen, M., Brauer, S., Decorte, R., Poetsch, M., von Wurmb-Schwark, N., de Knijff, P., Labuda, D., Vezina, H., Knoblauch, H., Lessig, R., Roewer, L., Ploski, R., Dobosz, T., Henke, L., Henke, J., Furtado, M.R. and Kayser, M. |
| 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. |
| Keywords: | Human, Y Chromosomes, Forensic Sciences, Genetic Loci, Genetic Markers, Microsatellite Repeats, Mutation, Paternal Age |
| Source: | American Journal of Human Genetics |
| ISSN: | 0002-9297 |
| Publisher: | Cell Press |
| Volume: | 87 |
| Number: | 3 |
| Page Range: | 341-353 |
| Date: | 10 September 2010 |
| Official Publication: | https://doi.org/10.1016/j.ajhg.2010.08.006 |
| PubMed: | View item in PubMed |
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