Towards male individualization with rapidly mutating Y-chromosomal STRs

BALLANTYNE K,; DANIEL CORACH; CECILIA BOBILLO; ANDREA SALA

HUMAN MUTATION

WILEY-LISS, DIV JOHN WILEY & SONS INC

Lugar: New York; Año: 2014 vol. 8 p. 1021 - 1032

1059-7794

Relevant for various areas of human genetics,Y-chromosomal short tandem repeats (Y-STRs) are commonlyused for testing close paternal relationships amongindividuals and populations, and for male lineage identification.However, even the widely used 17-loci Yfilerset cannot resolve individuals and populations completely.Here, 52 centers generated quality-controlled data of 13rapidly mutating (RM) Y-STRs in 14,644 related andunrelated males from 111 worldwide populations. Strikingly,>99% of the 12,272 unrelated males were completelyindividualized. Haplotype diversity was extremelyhigh (global: 0.9999985, regional: 0.99836?0.9999988).Haplotype sharing between populations was almost absentexcept 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 endogamousgroups (14.3%). Analysis of molecular variance revealed99.98% of variation within populations, 0.018% amongpopulations within groups, and 0.002% among groups. Ofthe 2,372 newly and 156 previously typed male relativepairs, 29% were differentiated including 27% of the 2,378father?son pairs. Relative to Yfiler, haplotype diversitywas increased in 86% of the populations tested and overallmale relative differentiation was raised by 23.5%. Ourstudy demonstrates the value of RMY-STRs in identifyingand separating unrelated and related males and provides areference database.