Ballantyne, Kaye N., Goedbloed, Miriam, Fang, Rixun, Schaap, Onno, Lao, Oscar ORCID: 0000-0002-8525-9649, Wollstein, Andreas, Choi, Ying, van Duijn, Kate, Vermeulen, Mark, Brauer, Silke, Decorte, Ronny, Poetsch, Micaela, von Wurmb-Schwark, Nicole, de Knijff, Peter ORCID: 0000-0002-0899-771X, Labuda, Damian, Vezina, Helene, Knoblauch, Hans, Lessig, Ruediger, Roewer, Lutz ORCID: 0000-0001-9383-4941, Ploski, Rafal ORCID: 0000-0001-6286-5526, Dobosz, Tadeusz ORCID: 0000-0003-0413-9109, Henke, Lotte, Henke, Juegen, Furtado, Manohar R. and Kayser, Manfred (2010). Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications. Am. J. Hum. Genet., 87 (3). S. 341 - 354. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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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 x 10(-4) (95% credible interval [CI], 1.38 x 10(-5) - 2.02 x 10(-3)) to 7.44 x 10(-2) (95% Cl, 6.51 x 10(-2) - 9.09 x 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Ballantyne, Kaye N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goedbloed, MiriamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fang, RixunUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schaap, OnnoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lao, OscarUNSPECIFIEDorcid.org/0000-0002-8525-9649UNSPECIFIED
Wollstein, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Choi, YingUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Duijn, KateUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vermeulen, MarkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brauer, SilkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Decorte, RonnyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Poetsch, MicaelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Wurmb-Schwark, NicoleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Knijff, PeterUNSPECIFIEDorcid.org/0000-0002-0899-771XUNSPECIFIED
Labuda, DamianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vezina, HeleneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knoblauch, HansUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lessig, RuedigerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roewer, LutzUNSPECIFIEDorcid.org/0000-0001-9383-4941UNSPECIFIED
Ploski, RafalUNSPECIFIEDorcid.org/0000-0001-6286-5526UNSPECIFIED
Dobosz, TadeuszUNSPECIFIEDorcid.org/0000-0003-0413-9109UNSPECIFIED
Henke, LotteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Henke, JuegenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Furtado, Manohar R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kayser, ManfredUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-496612
DOI: 10.1016/j.ajhg.2010.08.006
Journal or Publication Title: Am. J. Hum. Genet.
Volume: 87
Number: 3
Page Range: S. 341 - 354
Date: 2010
Publisher: CELL PRESS
Place of Publication: CAMBRIDGE
ISSN: 1537-6605
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SHORT TANDEM REPEATS; MUTATION-RATES; HAPLOGROUP TREE; DNA-SEQUENCES; HUMAN GENOME; EVOLUTION; LENGTH; HUMANS; LOCI; SLIPPAGEMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/49661

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