Title

Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Authors

Authors

K. N. Ballantyne; A. Ralf; R. Aboukhalid; N. M. Achakzai; M. J. Anjos; Q. Ayub; J. Balazic; J. Ballantyne; D. J. Ballard; B. Berger; C. Bobillo; M. Bouabdellah; H. Burri; T. Capal; S. Caratti; J. Cardenas; F. Cartault; E. F. Carvalho; M. Carvalho; B. W. Cheng; M. D. Coble; D. Comas; D. Corach; M. E. D'Amato; S. Davison; P. de Knijff; M. C. A. De Ungria; R. Decorte; T. Dobosz; B. M. Dupuy; S. Elmrghni; M. Gliwinski; S. C. Gomes; L. Grol; C. Haas; E. Hanson; J. Henke; L. Henke; F. Herrera-Rodriguez; C. R. Hill; G. Holmlund; K. Honda; U. D. Immel; S. Inokuchi; M. A. Jobling; M. Kaddura; J. S. Kim; S. H. Kim; W. Kim; T. E. King; E. Klausriegler; D. Kling; L. Kovacevic; L. Kovatsi; P. Krajewski; S. Kravchenko; M. H. D. Larmuseau; E. Y. Lee; R. Lessig; L. A. Livshits; D. Marjanovic; M. Minarik; N. Mizuno; H. Moreira; N. Morling; M. Mukherjee; P. Munier; J. Nagaraju; F. Neuhuber; S. J. Nie; P. Nilasitsataporn; T. Nishi; H. H. Oh; J. Olofsson; V. Onofri; J. U. Palo; H. Pamjav; W. Parson; M. Petlach; C. Phillips; R. Ploski; S. P. R. Prasad; D. Primorac; G. A. Purnomo; J. Purps; H. Rangel-Villalobos; K. Rebala; B. Rerkamnuaychoke; D. R. Gonzalez; C. Robino; L. Roewer; A. Rosa; A. Sajantila; A. Sala; J. M. Salvador; P. Sanz; C. Schmitt; A. K. Sharma; D. A. Silva; K. J. Shin; T. Sijen; M. Sirker; D. Sivakova; V. Skaro; C. Solano-Matamoros; L. Souto; V. Stenzl; H. Sudoyo; D. Syndercombe-Court; A. Tagliabracci; D. Taylor; A. Tillmar; I. S. Tsybovsky; C. Tyler-Smith; K. J. van der Gaag; D. Vanek; A. Volgyi; D. Ward; P. Willemse; E. P. H. Yap; R. Y. Y. Yong; I. Z. Pajnic;M. Kayser

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Abbreviated Journal Title

Hum. Mutat.

Keywords

Y-chromosome; Y-STRs; haplotypes; RM Y-STRs; paternal lineage; forensic; FORENSIC ANALYSIS; STR HAPLOTYPES; POPULATIONS; RECOMMENDATIONS; DIVERSITY; DATABASE; HISTORY; UPDATE; ISFG; Genetics & Heredity

Abstract

Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, > 99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**

Journal Title

Human Mutation

Volume

35

Issue/Number

8

Publication Date

1-1-2014

Document Type

Article

Language

English

First Page

1021

Last Page

1032

WOS Identifier

WOS:000339431600016

ISSN

1059-7794

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