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

1

Issued Date

2014-01-01

Resource Type

Article

ISSN

10981004
10597794

DOI

10.1002/humu.22599

Other identifier(s)

2-s2.0-84904433303

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Human Mutation. Vol.35, No.8 (2014), 1021-1032

Suggested Citation

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, Niels Morling, Meeta Mukherjee, Patrick Munier, Javaregowda Nagaraju, Franz Neuhuber, Shengjie Nie, Premlaphat Nilasitsataporn, Takeki Nishi, Hye H. Oh, Jill Olofsson, 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 Reogonekbała, Budsaba Rerkamnuaychoke, Danel Rey Gonzalez, Carlo Robino, Lutz Roewer, Alexandra Rosa, Antti Sajantila Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats. Human Mutation. Vol.35, No.8 (2014), 1021-1032. doi:10.1002/humu.22599 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/33515

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Title

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

Author(s)

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
 Niels Morling
 Meeta Mukherjee
 Patrick Munier
 Javaregowda Nagaraju
 Franz Neuhuber
 Shengjie Nie
 Premlaphat Nilasitsataporn
 Takeki Nishi
 Hye H. Oh
 Jill Olofsson
 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 Reogonekbała
 Budsaba Rerkamnuaychoke
 Danel Rey Gonzalez
 Carlo Robino
 Lutz Roewer
 Alexandra Rosa
 Antti Sajantila

Other Contributor(s)

Erasmus University Medical Center
 Office of the Chief Forensic Scientist
 Mohammed V University in Rabat
 University of the Punjab, Lahore
 Instituto Nacional de Medicina Legal
 Wellcome Trust Sanger Institute
 University of Ljubljana Faculty of Medicine
 University of Central Florida
 King's College London
 Medizinische Universitat Innsbruck
 Universidad de Buenos Aires
 University of Zurich
 Institute of Criminalistics Prague
 Universita degli Studi di Torino
 Universidad de Santiago de Compostela
 Site Centre Hospitalier Felix Guyon
 Universidade do Estado do Rio de Janeiro
 Institute of the Forensic Sciences
 National Institute of Standards and Technology
 Universitat Pompeu Fabra Barcelona
 University of the Western Cape
 Leiden University Medical Center - LUMC
 University of the Philippines Diliman
 KU Leuven
 Wroclaw Medical University
 Norwegian Institute of Public Health
 University of Benghazi
 Gdanski Uniwersytet Medyczny
 Universidade da Madeira
 Netherlands Forensic Institute - NFI
 Institut für Blutgruppenforschung LGC GmbH
 Sección de Bioquímica del Departamento de Ciencias Forenses
 Linkopings universitet
 University of Tsukuba
 Martin-Universitat Halle-Wittenberg
 National Research Institute of Police Science
 University of Leicester
 Supreme Prosecutors' Office
 National Forensic Service, Republic of Korea
 Dankook University
 Universitat Salzburg
 Institute for Genetic Engineering and Biotechnology
 Aristotle University of Thessaloniki
 Medical University of Warsaw
 Institute of Molecular Biology and Genetics National Academy of Sciences of Ukraine
 Yonsei University College of Medicine
 Genomac Research Institute
 Universidade de Aveiro
 Kobenhavns Universitet
 Central Forensic Science Laboratory India
 Centre for DNA Fingerprinting and Diagnostics India
 Kunming Medical University
 Sci. Crime Detect. Div.
 Universita Politecnica delle Marche
 Helsingin Yliopisto
 Universität Budapest
 Pennsylvania State University
 University of New Haven
 University of Split
 Eijkman Institute for Molecular Biology
 Charité – Universitätsmedizin Berlin
 Universidad de Guadalajara
 Mahidol University
 University of North Texas Health Science Center
 University of Cologne

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 RM Y-STRs in identifying and separating unrelated and related males and provides a reference database. The value of 13 rapidly-mutating (RM) Y-STRs for differentiating male individuals is investigated in 14,644 related and unrelated men sampled from 111 worldwide populations. Over 99% of the 12,272 unrelated men were completely individualized. Of the 2,378 father-son pairs, 27% were separated. Figure: blue lines represent Y-STR haplotypes shared between population pairs in a subset of 7,784 males from 65 populations. Almost all shared haplotypes defined by conventional 17 Yfiler Y-STRs (above) are resolved with the 13 RM Y-STRs (below). © 2014 Wiley Periodicals, Inc.

Keyword(s)

Biochemistry, Genetics and Molecular Biology
 Medicine

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URI

https://repository.li.mahidol.ac.th/handle/123456789/33515

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Scopus 2011-2015