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Cited by 401

The DOI matches its Crossref record; 53 of the 53 references it cites were found in a registry or an index.

Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications

Open access
Ballantyne, Kaye N., Goedbloed, Miriam, Fang, Rixun, Schaap, Onno, Lao, Oscar, Wollstein, Andreas, Choi, Ying, van Duijn, Kate, Vermeulen, Mark, Brauer, Silke, Decorte, Ronny, Poetsch, Micaela, von Wurmb-Schwark, Nicole, de Knijff, Peter, Labuda, Damian, Vézina, Hélène, Knoblauch, Hans, Lessig, Rüdiger, Roewer, Lutz, Ploski, Rafal, Dobosz, Tadeusz, Henke, Lotte, Henke, Jürgen, Furtado, Manohar R., Kayser, Manfred·2010·The American Journal of Human Genetics
DOI 10.1016/j.ajhg.2010.08.006
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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.

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Metadata

Authors
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., Vézina, H., Knoblauch, H., Lessig, R., Roewer, L., Ploski, R., Dobosz, T., Henke, L., Henke, J., Furtado, M. R., & Kayser, M.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2010-09
Volume
87
Issue
3
Pages
341-353
ISSN
0002-9297 (ISSN-L)
DOI
10.1016/j.ajhg.2010.08.006
OpenAlex
W2158488248
Cited by
401
References
53
FWCI
8.38
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications. https://app.cochat.ai/papers/10.1016/j.ajhg.2010.08.006
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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., Vézina, H., Knoblauch, H., Lessig, R., Roewer, L., . . . Kayser, M. (2010). Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2010.08.006

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.