Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals.
Rapidly Mutating Y-STRs (RM Y-STRs) were recently introduced in forensics in order to increase the differentiation of Y-chromosomal profiles even in case of close relatives. We estimate RM Y-STRs mutation rates and their power to discriminate between related individuals by using samples extracted from a wide set of paternal pedigrees and by comparing RM Y-STRs results with those obtained from the Y-filer set. In addition, we tested the ability of RM Y-STRs to discriminate between unrelated individuals carrying the same Y-filer haplotype, using the haplogroup R-M269 (reportedly characterised by a strong resemblance in Y-STR profiles) as a case study. Our results, despite confirming the high mutability of RM Y-STRs, show significantly lower mutation rates than reference germline ones. Consequently, their power to discriminate between related individuals, despite being higher than the one of Y-filer, does not seem to improve significantly the performance of the latter. On the contrary, when considering R-M269 unrelated individuals, RM Y-STRs reveal significant discriminatory power and retain some phylogenetic signal, allowing the correct classification of individuals for some R-M269-derived sub-lineages. These results have important implications not only for forensics, but also for molecular anthropology, suggesting that RM Y-STRs are useful tools for exploring subtle genetic variability within Y-chromosomal haplogroups.
Dipartimento di Scienze Biologiche, Geologiche e Ambientali (BiGeA), Università di Bologna, Bologna, Italy.
Alessio
A
Boattini
Dipartimento di Scienze Biologiche, Geologiche e Ambientali (BiGeA), Università di Bologna, Bologna, Italy.
Stefania
S
Sarno
Dipartimento di Scienze Mediche e Chirurgiche, Università di Bologna, Bologna, Italy.
Carla
C
Bini
Dipartimento di Scienze Mediche e Chirurgiche, Università di Bologna, Bologna, Italy.
Valeria
V
Pesci
Dipartimento di Scienze Biologiche, Geologiche e Ambientali (BiGeA), Università di Bologna, Bologna, Italy.
Chiara
C
Barbieri
Dipartimento di Scienze Biologiche, Geologiche e Ambientali (BiGeA), Università di Bologna, Bologna, Italy.
Sara
S
De Fanti
Dipartimento di Scienze Biologiche, Geologiche e Ambientali (BiGeA), Università di Bologna, Bologna, Italy.
Andrea
A
Quagliariello
Department of Archaeology and Anthropology, University of Cambridge, Cambridge, United Kingdom.
Luca
L
Pagani
The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, United Kingdom.
Qasim
Q
Ayub
Dipartimento di Medicina Diagnostica, Clinica e di Sanità Pubblica, Università degli Studi di Modena e Reggio Emilia, Modena, Italy.
Gianmarco
G
Ferri
Dipartimento di Scienze Biologiche, Geologiche e Ambientali (BiGeA), Università di Bologna, Bologna, Italy.
Davide
D
Pettener
Dipartimento di Scienze Biologiche, Geologiche e Ambientali (BiGeA), Università di Bologna, Bologna, Italy.
Donata
D
Luiselli
Dipartimento di Scienze Mediche e Chirurgiche, Università di Bologna, Bologna, Italy.
Susi
S
Pelotti
D041322:Chromosomes, Human, Y / Q000235:genetics*; D053803:Forensic Genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D059645:Mutation Rate; D010334:Paternity; D010375:Pedigree; D010802:Phylogeny