Toward male individualization with rapidly mutating y-chromosomal short tandem repeats.

Authors:
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 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

Hum Mutat 2014 Aug 14;35(8):1021-32. Epub 2014 Jul 14.

Department of Forensic Molecular Biology, Erasmus MC University Medical Centre Rotterdam, Rotterdam, The Netherlands; Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Macleod, Victoria, Australia.

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.

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http://dx.doi.org/10.1002/humu.22599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145662PMC
August 2014

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