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Toward male individualization with rapidly mutating y-chromosomal short tandem repeats.


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.

SUBMITTER: Ballantyne KN 

PROVIDER: S-EPMC4145662 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature

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Toward male individualization with rapidly mutating y-chromosomal short tandem repeats.

Ballantyne Kaye N KN   Ralf Arwin A   Aboukhalid Rachid R   Achakzai Niaz M NM   Anjos Maria J MJ   Ayub Qasim Q   Balažic Jože J   Ballantyne Jack J   Ballard David J DJ   Berger Burkhard B   Bobillo Cecilia C   Bouabdellah Mehdi M   Burri Helen H   Capal Tomas T   Caratti Stefano S   Cárdenas Jorge J   Cartault François F   Carvalho Elizeu F EF   Carvalho Monica M   Cheng Baowen B   Coble Michael D MD   Comas David D   Corach Daniel D   D'Amato Maria E ME   Davison Sean S   de Knijff Peter P   De Ungria Maria Corazon A MC   Decorte Ronny R   Dobosz Tadeusz T   Dupuy Berit M BM   Elmrghni Samir S   Gliwiński Mateusz M   Gomes Sara C SC   Grol Laurens L   Haas Cordula C   Hanson Erin E   Henke Jürgen J   Henke Lotte L   Herrera-Rodríguez Fabiola F   Hill Carolyn R CR   Holmlund Gunilla G   Honda Katsuya K   Immel Uta-Dorothee UD   Inokuchi Shota S   Jobling Mark A MA   Kaddura Mahmoud M   Kim Jong S JS   Kim Soon H SH   Kim Wook W   King Turi E TE   Klausriegler Eva E   Kling Daniel D   Kovačević Lejla L   Kovatsi Leda L   Krajewski Paweł P   Kravchenko Sergey S   Larmuseau Maarten H D MH   Lee Eun Young EY   Lessig Ruediger R   Livshits Ludmila A LA   Marjanović Damir D   Minarik Marek M   Mizuno Natsuko N   Moreira Helena H   Morling Niels N   Mukherjee Meeta M   Munier Patrick P   Nagaraju Javaregowda J   Neuhuber Franz F   Nie Shengjie S   Nilasitsataporn Premlaphat P   Nishi Takeki T   Oh Hye H HH   Olofsson Jill J   Onofri Valerio V   Palo Jukka U JU   Pamjav Horolma H   Parson Walther W   Petlach Michal M   Phillips Christopher C   Ploski Rafal R   Prasad Samayamantri P R SP   Primorac Dragan D   Purnomo Gludhug A GA   Purps Josephine J   Rangel-Villalobos Hector H   Rębała Krzysztof K   Rerkamnuaychoke Budsaba B   Gonzalez Danel Rey DR   Robino Carlo C   Roewer Lutz L   Rosa Alexandra A   Sajantila Antti A   Sala Andrea A   Salvador Jazelyn M JM   Sanz Paula P   Schmitt Cornelia C   Sharma Anil K AK   Silva Dayse A DA   Shin Kyoung-Jin KJ   Sijen Titia T   Sirker Miriam M   Siváková Daniela D   Skaro Vedrana V   Solano-Matamoros Carlos C   Souto Luis L   Stenzl Vlastimil V   Sudoyo Herawati H   Syndercombe-Court Denise D   Tagliabracci Adriano A   Taylor Duncan D   Tillmar Andreas A   Tsybovsky Iosif S IS   Tyler-Smith Chris C   van der Gaag Kristiaan J KJ   Vanek Daniel D   Völgyi Antónia A   Ward Denise D   Willemse Patricia P   Yap Eric P H EP   Yong Rita Y Y RY   Pajnič Irena Zupanič IZ   Kayser Manfred M  

Human mutation 20140714 8


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  ...[more]

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