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

Kaye Ballantyne, Arwin Ralf, R Aboukhalid, NM Achakzai, MJ Anjos, Q Ayub, J Balazic, J Ballantyne, DJ Ballard, B Berger, C Bobillo, M Bouabdellah, H Burri, T Capal, S Caratti, J Cardenas, F Cartault, EF Carvalho, M Carvalho, BW ChengMD Coble, D Comas, D Corach, ME D'Amato, S Davison, P de Knijff, MCA De Ungria, R Decorte, T Dobosz, BM Dupuy, S Elmrghni, M Gliwinski, SC Gomes, L Grol, C Haas, E Hanson, J Henke, L Henke, F Herrera-Rodriguez, CR Hill, G Holmlund, K Honda, UD Immel, S Inokuchi, MA Jobling, M Kaddura, JS Kim, SH Kim, W Kim, TE King, E Klausriegler, D Kling, L Kovacevic, L Kovatsi, P Krajewski, S Kravchenko, MHD Larmuseau, EY Lee, R Lessig, LA Livshits, D Marjanovic, M Minarik, N Mizuno, H Moreira, N Morling, M Mukherjee, P Munier, J Nagaraju, F Neuhuber, SJ Nie, P Nilasitsataporn, T Nishi, HH Oh, J Olofsson, V Onofri, JU Palo, H Pamjav, W Parson, M Petlach, C Phillips, R Ploski, SPR Prasad, D Primorac, GA Purnomo, J Purps, H Rangel-Villalobos, K Rebala, B Rerkamnuaychoke, DR Gonzalez, C Robino, L Roewer, A De Rosa, A Sajantila, A Sala, JM Salvador, P Sanz, C Schmitt, AK Sharma, DA De Silva, KJ Shin, T Sijen, M Sirker, D Sivakova, V Skaro, C Solano-Matamoros, L Souto, V Stenzl, H Sudoyo, D Syndercombe-Court, A Tagliabracci, D Taylor, A Tillmar, IS Tsybovsky, C Tyler-Smith, KJ van der Gaag, D Vanek, A Volgyi, D Ward, P Willemse, EPH Yap, RYY Yong, IZ Pajnic, Manfred Kayser

Research output: Contribution to journalArticleAcademicpeer-review

121 Citations (Scopus)


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 RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**
Original languageUndefined/Unknown
Pages (from-to)1021-1032
Number of pages12
JournalHuman Mutation
Issue number8
Publication statusPublished - 2014

Cite this