Toward male individualization with rapidly mutating y‐chromosomal short tandem repeats

• Author(s): Ballantyne, Kaye N. ; Ralf, Arwin ; Aboukhalid, Rachid ; Achakzai, Niaz M. ; Anjos, Maria J. ; Ayub, Qasim ; Balažic, Jože ; Ballantyne, Jack ; Ballard, David J. ; Berger, Burkhard ; Bobillo, Cecilia ; Bouabdellah, Mehdi ; Burri, Helen ; Capal, Tomas ; Caratti, Stefano ; Cárdenas, Jorge ; Cartault, François ; Carvalho, Elizeu F. ; Carvalho, Monica ; Cheng, Baowen ; Coble, Michael D. ; Comas, David ; Corach, Daniel ; D'Amato, Maria E. ; Davison, Sean ; de Knijff, Peter ; De Ungria, Maria Corazon A. ; Decorte, Ronny ; Dobosz, Tadeusz ; Dupuy, Berit M. ; Elmrghni, Samir ; Gliwiński, Mateusz ; Gomes, Sara C. ; Grol, Laurens ; Haas, Cordula ; Hanson, Erin ; Henke, Jürgen ; Henke, Lotte ; Herrera-Rodríguez, Fabiola ; Hill, Carolyn R. ; Holmlund, Gunilla ; Honda, Katsuya ; Immel, Uta-Dorothee ; Inokuchi, Shota ; Jobling, Mark A. ; Kaddura, Mahmoud ; Kim, Jong S. ; Kim, Soon H. ; Kim, Wook ; King, Turi E. ; Klausriegler, Eva ; Kling, Daniel ; Kovačević, Lejla ; Kovatsi, Leda ; Krajewski, Paweł ; Kravchenko, Sergey ; Larmuseau, Maarten H. D. ; Lee, Eun Young ; Lessig, Ruediger ; Livshits, Ludmila A. ; Marjanović, Damir ; Minarik, Marek ; Mizuno, Natsuko ; Moreira, Helena ; Morling, Niels ; Mukherjee, Meeta ; Munier, Patrick ; Nagaraju, Javaregowda ; Neuhuber, Franz ; Nie, Shengjie ; Nilasitsataporn, Premlaphat ; Nishi, Takeki ; Oh, Hye H. ; Olofsson, Jill ; Onofri, Valerio ; Palo, Jukka U. ; Pamjav, Horolma ; Parson, Walther ; Petlach, Michal ; Phillips, Christopher ; Ploski, Rafal ; Prasad, Samayamantri P. R. ; Primorac, Dragan ; Purnomo, Gludhug A. ; Purps, Josephine ; Rangel-Villalobos, Hector ; Rębała, Krzysztof ; Rerkamnuaychoke, Budsaba ; Gonzalez, Danel Rey ; Robino, Carlo ; Roewer, Lutz ; Rosa, Alexandra ; Sajantila, Antti ; Sala, Andrea ; Salvador, Jazelyn M. ; Sanz, Paula ; Schmitt, Cornelia ; Sharma, Anil K. ; Silva, Dayse A. ; Shin, Kyoung-Jin ; Sijen, Titia ; Sirker, Miriam ; Siváková, Daniela ; Škaro, Vedrana ; Solano-Matamoros, Carlos ; Souto, Luis ; Stenzl, Vlastimil ; Sudoyo, Herawati ; Syndercombe-Court, Denise ; Tagliabracci, Adriano ; Taylor, Duncan ; Tillmar, Andreas ; Tsybovsky, Iosif S. ; Tyler-Smith, Chris ; van der Gaag, Kristiaan J. ; Vanek, Daniel ; Völgyi, Antónia ; Ward, Denise ; Willemse, Patricia ; Yap, Eric P.H. ; Yong, Rita Y.Y. ; Pajnič, Irena Zupanič ; Kayser, Manfred
• Date: 2014
• Persistent ID: http://hdl.handle.net/10400.13/4118
• Origin: DigitUMa - Repositório da Universidade da Madeira
• Subject(s): Y-chromosome; Y-STRs; Haplotypes; RM YSTRs; Paternal lineage; Forensic; .; Faculdade de Ciências da Vida
• Document Type: Journal article
• Language: English
• Contributor(s): DigitUMa

Description

Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are com monly used for testing close paternal relationships among individuals and populations, and for male lineage iden tification. 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. Strik ingly, >99% of the 12,272 unrelated males were com pletely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836–0.9999988). Haplotype sharing between populations was almost ab sent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in ur ban (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 over all 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.