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.

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

ROBINO, Carlo;
2014-01-01

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.
2014
35
21
1021
1032
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145662/
RM Y-STRs, Y-STRs, Y-chromosome, forensic, haplotypes, paternal lineage
K.N. Ballantyne; A. Ralf; R. Aboukhalid; N.M. Achakzai; M.J. Anjos; Q. Ayub; J. Balažic; J. Ballantyne; D.J. Ballard; B. Berger; C. Bobillo; M. Bouabdellah; H. Burri; T. Capal; S. Caratti; J. Cárdenas; F. Cartault; E.F. Carvalho ; M. Carvalho; B. Cheng; M.D. Coble; D. Comas; D. Corach; M.E. D'Amato; D. Davison; P. de Knijff; M.C. De Ungria; R. Decorte; T. Dobosz; B.M. Dupuy; S. Elmrghni; M. Gliwiński; S.C. Gomes; L. Grol; C. Haas; E. Hanson; J. Henke; L. Henke; F. Herrera-Rodríguez; C.R. Hill; G. Holmlund; K. Honda; U.D. Immel; S. Inokuchi; M.A. Jobling; M. Kaddura; J.S. Kim; S.H. Kim; W. Kim; T.E. King ; E. Klausriegler; D. Kling; L. Kovačević; L. Kovatsi; P. Krajewski; S. Kravchenko; M.H. Larmuseau; E.Y. Lee; R. Lessig; L.A. Livshits; D. Marjanović; M. Minarik; N. Mizuno; H. Moreira; N. Morling; M. Mukherjee; P. Munier; J. Nagaraju; F. Neuhuber; S. Nie; P. Nilasitsataporn; T. Nishi; H.H. Oh; J. Olofsson; V. Onofri; J.U. Palo; H. Pamjav; W. Parson; M. Petlach; C. Phillips; R. Ploski; S.P. Prasad ; D. Primorac; G.A. Purnomo; J. Purps; H. Rangel-Villalobos; K. Rębała; B. Rerkamnuaychoke; D.R. Gonzalez ; C. Robino; L. Roewer; A. Rosa; A. Sajantila; A. Sala; J.M. Salvador; P. Sanz; C. Schmitt; A.K. Sharma; D.A. Silva; K.J. Shin; T. Sijen; M. Sirker; D. Siváková; V. Skaro; C. Solano-Matamoros; L. Souto; V. Stenzl; H. Sudoyo; D. Syndercombe-Court; A. Tagliabracci; D. Taylor; A. Tillmar; I.S. Tsybovsky; C. Tyler-Smith; K.J. van der Gaag; D. Vanek; A. Völgyi; D. Ward; P. Willemse; E.P. Yap; R.Y. Yong; I.Z. Pajnič; M. Kayser
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/149585
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