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
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.