Towards male individualization with rapidly mutating Y-chromosomal Short Tandem Repeats

Kaye Ballantyne, Arwin Ralf, Rachid Aboukhalid, Niaz Achakzai, Maria Anjoh, Qasim Ayub, Jose Balazic, Jack Ballantyne, David Ballard, Burkhard Berger, Cecilia Bobillo, Medhi Bouabdellah, Helen Burri, Tomas Capal, Stefano Caratti, Jorge Cardenas, Francois Cartault, Elizeu Carvalho, Monica Carvalho, Baowen ChengMichael Coble, David Comas, Daniel Corach, Maria D'Amato, Sean Davison, Peter De Knijff, Maria de Unigria, Ronny Decortet, Tadeusz Dobosz, Berit Dupuy, Samir Elmrghni, Mateusz Gliwinski, Sara Gomes, Laurens Grol, Cordula Haas, Erin Hanson, Jurgen Henke, Lotte Henke, Fabiolo Herrera-Rodriguez, Caroline Hill, Gunilla Holmlund, Katsuya Honda, Uta-Dorothee Immel, Shota Inokuchi, Mark Jobling, Mahmoud Kaddura, Jong Kim, Soon Kim, Wook Kim, Turi King, Eva Klausriegler, Daniel Kling, Lejla Kovacevic, Leda Kovatsi, Pawel Krajewski, Sergey Kravchenko, Maarten Larmuseau, Eun Lee, Reudiger Lessig, Ludmila Livshits, Damir Marjanovic, Marek Minarik, Natsuko Mizuno, Helena Moreira, Niels Morling, Meeta Mukherjee, Patrick Munier, Javaregowda Nagaraju, Franz Neuhuber, Shengjie Nei, Premlaphat Nilasistsataporn, Takeki Nishi, Hye Oh, Jill Olofsson, Valerio Onofri, Jukka Palo, Horolma Pamjav, Walther Parson, Michael Petlach, Christopher Phillips, Rafal Polski, Samayamantri Prasad, Dragan Primorac, Gludhug Prunomo, Josephine Purps, Hector Rangel-Villalobos, Krzysztof Rebala, Budsaba Rerkamnuaychoke, Danel Gonzalez, Carlo Robino, Lutz Roewer, Alexandra Rosa, Antti Sajantila, Andrea Sala, Jazelyn Salvador, Paula Sanz, Cornelia, Anil Sharma, Dayse Silva, Kyoung-Jin Shin, Titia Sijen, Miriam Sirker, Daniela Sivakova, Vedrana Skaro, Carlos Solano-Matamoros, Luis Souto, Vlastimil Stenzl, Herawati Sudoyo, Denise Syndercombe-Court, Adriano Tagliabracci, Duncan Taylor, Andreas Tillmar, Losif Tsybovsky, Chris Tyler-Smith, Kristiaan van der Gaag, Daniel Vanek, Denis Ward, Antonia Volgyi, Patricia Willemse, Eric Yap, Rita Yong, Irena Pajnic, Manfred Kayser

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    99 Citations (Scopus)

    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).

    Original languageEnglish
    Pages (from-to)1021-1032
    Number of pages12
    JournalHuman Mutation
    Volume35
    Issue number8
    DOIs
    Publication statusPublished - 2014

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  • Cite this

    Ballantyne, K., Ralf, A., Aboukhalid, R., Achakzai, N., Anjoh, M., Ayub, Q., Balazic, J., Ballantyne, J., Ballard, D., Berger, B., Bobillo, C., Bouabdellah, M., Burri, H., Capal, T., Caratti, S., Cardenas, J., Cartault, F., Carvalho, E., Carvalho, M., ... Kayser, M. (2014). Towards male individualization with rapidly mutating Y-chromosomal Short Tandem Repeats. Human Mutation, 35(8), 1021-1032. https://doi.org/10.1002/humu.22599