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Wiley, Human Mutation: Variation, Informatics and Disease, 8(35), p. 1021-1032, 2014

DOI: 10.1002/humu.22599

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

Journal article published in 2014 by Kaye N. Ballantyne, Eun Young Lee, Jukka U. Palo, Arwin Ralf, Rachid Aboukhalid, Vedrana Skaro, Rita Y. Y. Yong, Niaz M. Achakzai, Irena Zupanic Pajnic, Maria J. Anjos, 7. and Manfred Kayser1, 1., Qasim Ayub ORCID, A. Ralf, Joze Balazic and other authors.
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Abstract

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.