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

• Published in: Human mutation Vol. 35; no. 8; pp. 1021 - 1032
• Main Authors: Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Berger, Burkhard, Bobillo, Cecilia, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Carvalho, Monica, 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., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., 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, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Shin, Kyoung-Jin, Sirker, Miriam, Siváková, Daniela, 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
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.08.2014; Hindawi Limited; Wiley
• Subjects: Africa; Alleles; Americas; Asia; Chromosomes, Human, Y - chemistry; Cromosoma Y; DNA Fingerprinting - methods; DNA Fingerprinting - statistics & numerical data; Europe; forensic; Gene Frequency; Genetic Variation; Genetics, Population; Genomics; Genètica de poblacions humanes; Haplotypes; Humans; Male; Males; Microsatellite Repeats; paternal lineage; Paternity; Pedigree; Ressenya genètica; RM Y-STRs; Rural Population; Urban Population; Y-chromosome; Y-STRs; Americas; Asia; Europe; Africa; Y-chromosome; haplotypes; forensic; paternal lineage; RM Y-STRs; Y-STRs
• ISSN: 1059-7794; 1098-1004; 1098-1004
• DOI: 10.1002/humu.22599

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).