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

Ballantyne,K.N.;Ralf,A.;Aboukhalid,R.;Achakzai,N.M.;Anjos,M.J.;Ayub,Q.;Balazic,J.;Ballantyne,J.;Ballard,D.J.;Berger,B.;Bobillo,C.;Bouabdellah,M.;Burri,H.;Capal,T.;Caratti,S.;Cardenas,J.;Cartault,F.;Carvalho,E.F.;Carvalho,M.;Cheng,B.;Coble,M.D.;Comas,D.;Corach,D.;D'Amato,M.E.;Davison,S.;deKnijff,P.;DeUngria,M.C.;Decorte,R.;Dobosz,T.;Dupuy,B.M.;Elmrghni,S.;Gliwinski,M.;Gomes,S.C.;Grol,L.;Haas,C.;Hanson,E.;Henke,J.;Henke,L.;Herrera-Rodriguez,F.;Hill,C.R.;Holmlund,G.;Honda,K.;Immel,U.D.;Inokuchi,S.;Jobling,M.A.;Kaddura,M.;Kim,J.S.;Kim,S.H.;Kim,W.;King,T.E.;Klausriegler,E.;Kling,D.;Kovacevic,L.;Kovatsi,L.;Krajewski,P.;Kravchenko,S.;Larmuseau,M.H.;Lee,E.Y.;Lessig,R.;Livshits,L.A.;Marjanovic,D.;Minarik,M.;Mizuno,N.;Moreira,H.;Morling,N.;Mukherjee,M.;Munier,P.;Nagaraju,J.;Neuhuber,F.;Nie,S.;Nilasitsataporn,P.;Nishi,T.;Oh,H.H.;Olofsson,J.;Onofri,V.;Palo,J.U.;Pamjav,H.;Parson,W.;Petlach,M.;Phillips,C.;Ploski,R.;Prasad,S.P.;Primorac,D.;Purnomo,G.A.;Purps,J.;Rangel-Villalobos,H.;Rebala,K.;Rerkamnuaychoke,B.;Gonzalez,D.R.;Robino,C.;Roewer,L.;Rosa,A.;Sajantila,A.;Sala,A.;Salvador,J.M.;Sanz,P.;Schmitt,C.;Sharma,A.K.;Silva,D.A.;Shin,K.J.;Sijen,T.;Sirker,M.;Sivakova,D.;Skaro,V.;Solano-Matamoros,C.;Souto,L.;Stenzl,V.;Sudoyo,H.;Syndercombe-Court,D.;Tagliabracci,A.;Taylor,D.;Tillmar,A.;Tsybovsky,I.S.;Tyler-Smith,C.;vanderGaag,K.J.;Vanek,D.;Volgyi,A.;Ward,D.;Willemse,P.;Yap,E.P.;Yong,R.Y.;Pajnic,I.Z.;Kayser,M.;
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.
Hum Mutat 2014 35:1021-32
Tags: Y-STR;
PubMed: 24917567
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