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 fr...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2016-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC5089551?pdf=render |
| _version_ | 1819055137069465600 |
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| author | Alessio Boattini Stefania Sarno Carla Bini Valeria Pesci Chiara Barbieri Sara De Fanti Andrea Quagliariello Luca Pagani Qasim Ayub Gianmarco Ferri Davide Pettener Donata Luiselli Susi Pelotti |
| author_facet | Alessio Boattini Stefania Sarno Carla Bini Valeria Pesci Chiara Barbieri Sara De Fanti Andrea Quagliariello Luca Pagani Qasim Ayub Gianmarco Ferri Davide Pettener Donata Luiselli Susi Pelotti |
| author_sort | Alessio Boattini |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-21T13:02:44Z |
| format | Article |
| id | doaj.art-48488560ad3f4bcfa4bb2368aac81178 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-21T13:02:44Z |
| publishDate | 2016-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-48488560ad3f4bcfa4bb2368aac811782022-12-21T19:03:08ZengPublic Library of Science (PLoS)PLoS ONE1932-62032016-01-011111e016567810.1371/journal.pone.0165678Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals.Alessio BoattiniStefania SarnoCarla BiniValeria PesciChiara BarbieriSara De FantiAndrea QuagliarielloLuca PaganiQasim AyubGianmarco FerriDavide PettenerDonata LuiselliSusi PelottiRapidly 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.http://europepmc.org/articles/PMC5089551?pdf=render |
| spellingShingle | Alessio Boattini Stefania Sarno Carla Bini Valeria Pesci Chiara Barbieri Sara De Fanti Andrea Quagliariello Luca Pagani Qasim Ayub Gianmarco Ferri Davide Pettener Donata Luiselli Susi Pelotti Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals. PLoS ONE |
| title | Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals. |
| title_full | Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals. |
| title_fullStr | Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals. |
| title_full_unstemmed | Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals. |
| title_short | Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals. |
| title_sort | mutation rates and discriminating power for 13 rapidly mutating y strs between related and unrelated individuals |
| url | http://europepmc.org/articles/PMC5089551?pdf=render |
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