Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications Kaye N. Ballantyne, Miriam Goedbloed,

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Lutz Roewer, Dept. Forensic Genetics

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Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications Kaye N. Ballantyne, Miriam Goedbloed, Rixun Fang, Onno Schaap, Oscar Lao, Andreas Wollstein, Ying Choi, Kate van Duijn, Mark Vermeulen, Silke Brauer, Ronny Decorte, Micaela Poetsch, Nicole von Wurmb-Schwark, Peter de Knijff, Damian Labuda, Hélène Vézina, Hans Knoblauch, Rüdiger Lessig, Lutz Roewer, Rafal Ploski, Tadeusz Dobosz, Lotte Henke, Jürgen Henke, Manohar R. Furtado, Manfred Kayser The American Journal of Human Genetics Volume 87, Issue 3, Pages 341-353 (September 2010) DOI: 10.1016/j.ajhg.2010.08.006 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 Mutation Rates of 186 Y-STR Markers Established from Father-Son Pair Analysis Distribution of 186 Y-STR markers according to their Bayesian-based mutation rates (with credible intervals) estimated from analyzing up to 1966 DNA-confirmed father-son pairs per marker. The 13 RM Y-STR markers ascertained for further family or pedigree analysis are highlighted in red, and the commonly used 17 Yfiler Y-STRs are in green. Multicopy Y-STRs are noted with a black insert diamond. The American Journal of Human Genetics 2010 87, 341-353DOI: (10.1016/j.ajhg.2010.08.006) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 2 Correlation between the Length of the Longest Homogeneous Array, or the Total Number of Repeats within a Locus, and the Allele-Specific Mutation Rate from 267 Y-STR Loci Although the number of repeats present within a locus's longest homogenous array can be used to predict mutability, the total number of all repeats present within the locus has higher predictive value. The American Journal of Human Genetics 2010 87, 341-353DOI: (10.1016/j.ajhg.2010.08.006) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 3 Relationship between Total Number of Repeats and Mutation Direction and Rate from 267 Y-STR Loci Repeat loss mutations (contractions) displayed an exponential relationship with the total number of repeats, with increasing loss rates at loci with higher numbers of repeats. Repeat gain mutations (expansions) showed a weak quadratic function, with a peak in gain rate at 19 total repeats. The American Journal of Human Genetics 2010 87, 341-353DOI: (10.1016/j.ajhg.2010.08.006) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 4 Male Relative Differentiation with Newly Identified 13 RM Y-STRs and Commonly Used 17 Yfiler Y-STRs Results from differentiating between male relatives from analyzing 103 pairs from 80 male pedigrees, sorted according to the number of generations separating pedigree members, based on 13 RM Y-STRs (in red) and 17 Yfiler Y-STRs (in blue). Error bars represent 95% binomial confidence intervals. Note that these samples are independent from the father-son pairs initially used to establish the Y-STR mutation rates. The American Journal of Human Genetics 2010 87, 341-353DOI: (10.1016/j.ajhg.2010.08.006) Copyright © 2010 The American Society of Human Genetics Terms and Conditions