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

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  • Kaye N Ballantyne
  • Arwin Ralf
  • Rachid Aboukhalid
  • Niaz M Achakzai
  • Maria J Anjos
  • Qasim Ayub
  • Jože Balažic
  • Jack Ballantyne
  • David J Ballard
  • Burkhard Berger
  • Cecilia Bobillo
  • Mehdi Bouabdellah
  • Helen Burri
  • Tomas Capal
  • Stefano Caratti
  • Jorge Cárdenas
  • François Cartault
  • Elizeu F Carvalho
  • Monica Carvalho
  • Baowen Cheng
  • Michael D Coble
  • David Comas
  • Daniel Corach
  • Maria E D'Amato
  • Sean Davison
  • Peter de Knijff
  • Maria Corazon A De Ungria
  • Ronny Decorte
  • Tadeusz Dobosz
  • Berit M Dupuy
  • Samir Elmrghni
  • Mateusz Gliwiński
  • Sara C Gomes
  • Laurens Grol
  • Cordula Haas
  • Erin Hanson
  • Jürgen Henke
  • Lotte Henke
  • Fabiola Herrera-Rodríguez
  • Carolyn R Hill
  • Gunilla Holmlund
  • Katsuya Honda
  • Uta-Dorothee Immel
  • Shota Inokuchi
  • Mark A Jobling
  • Mahmoud Kaddura
  • Jong S Kim
  • Soon H Kim
  • Wook Kim
  • Turi E King
  • Eva Klausriegler
  • Daniel Kling
  • Lejla Kovačević
  • Leda Kovatsi
  • Paweł Krajewski
  • Sergey Kravchenko
  • Maarten H D Larmuseau
  • Eun Young Lee
  • Ruediger Lessig
  • Ludmila A Livshits
  • Damir Marjanović
  • Marek Minarik
  • Natsuko Mizuno
  • Helena Moreira
  • Meeta Mukherjee
  • Patrick Munier
  • Javaregowda Nagaraju
  • Franz Neuhuber
  • Shengjie Nie
  • Premlaphat Nilasitsataporn
  • Takeki Nishi
  • Hye H Oh
  • Valerio Onofri
  • Jukka U Palo
  • Horolma Pamjav
  • Walther Parson
  • Michal Petlach
  • Christopher Phillips
  • Rafal Ploski
  • Samayamantri P R Prasad
  • Dragan Primorac
  • Gludhug A Purnomo
  • Josephine Purps
  • Hector Rangel-Villalobos
  • Krzysztof Rębała
  • Budsaba Rerkamnuaychoke
  • Danel Rey Gonzalez
  • Carlo Robino
  • Lutz Roewer
  • Alexandra Rosa
  • Antti Sajantila
  • Andrea Sala
  • Jazelyn M Salvador
  • Paula Sanz
  • Cornelia Schmitt
  • Anil K Sharma
  • Dayse A Silva
  • Kyoung-Jin Shin
  • Titia Sijen
  • Miriam Sirker
  • Daniela Siváková
  • Vedrana Skaro
  • Carlos Solano-Matamoros
  • Luis Souto
  • Vlastimil Stenzl
  • Herawati Sudoyo
  • Denise Syndercombe Court
  • Adriano Tagliabracci
  • Duncan Taylor
  • Andreas Tillmar
  • Iosif S Tsybovsky
  • Chris Tyler-Smith
  • Kristiaan J van der Gaag
  • Daniel Vanek
  • Antónia Völgyi
  • Denise Ward
  • Patricia Willemse
  • Eric P H Yap
  • Rita Y Y Yong
  • Irena Zupanič Pajnič
  • Manfred Kayser

Relevant for various areas of human genetics, Y-chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst 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: 0.99919-0.9999988). 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% non-unique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA 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 fathers/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 RM Y-STRs in identifying and separating unrelated and related males and provides a reference database. This article is protected by copyright. All rights reserved.

OriginalsprogEngelsk
TidsskriftHuman Mutation
Vol/bind35
Udgave nummer8
Sider (fra-til)1021-32
Antal sider12
ISSN1059-7794
DOI
StatusUdgivet - aug. 2014

ID: 113995516