{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["87(3)"],"submitter":["Ballantyne KN"],"pubmed_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."],"journal":["American journal of human genetics"],"pagination":["341-53"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2933352"],"repository":["biostudies-literature"],"pubmed_title":["Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications."],"pmcid":["PMC2933352"],"pubmed_authors":["Schaap O","Vermeulen M","von Wurmb-Schwark N","van Duijn K","Kayser M","Choi Y","Decorte R","Goedbloed M","Roewer L","Knoblauch H","Dobosz T","Furtado MR","de Knijff P","Henke L","Henke J","Lao O","Poetsch M","Lessig R","Labuda D","Fang R","Ballantyne KN","Vezina H","Brauer S","Wollstein A","Ploski R"],"additional_accession":[]},"is_claimable":false,"name":"Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.","description":"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.","dates":{"release":"2010-01-01T00:00:00Z","publication":"2010 Sep","modification":"2021-02-21T02:03:34Z","creation":"2019-03-27T00:33:48Z"},"accession":"S-EPMC2933352","cross_references":{"pubmed":["20817138"],"doi":["10.1016/j.ajhg.2010.08.006"]}}