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...
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| creator | Boattini, Alessio Sarno, Stefania Bini, Carla Pesci, Valeria Barbieri, Chiara De Fanti, Sara Quagliariello, Andrea Pagani, Luca Ayub, Qasim Ferri, Gianmarco Pettener, Davide Luiselli, Donata Pelotti, Susi |
| 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. |
| doi_str_mv | 10.1371/journal.pone.0165678 |
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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.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0165678</identifier><identifier>PMID: 27802306</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Anthropology ; Biology and Life Sciences ; Case studies ; Chromosomes ; Chromosomes, Human, Y - genetics ; Computer and Information Sciences ; Datasets ; Discriminant analysis ; Forensic Genetics ; Forensic science ; Genetic aspects ; Genetic variability ; Haplotypes ; Humans ; Male ; Medicine and Health Sciences ; Microsatellite Repeats ; Multivariate analysis ; Mutation ; Mutation Rate ; Mutation rates ; Paternity ; Pedigree ; People and Places ; Phylogenetics ; Phylogeny ; Physical Sciences ; Short tandem repeats ; Social Sciences ; Y chromosomes</subject><ispartof>PloS one, 2016-11, Vol.11 (11), p.e0165678-e0165678</ispartof><rights>COPYRIGHT 2016 Public Library of Science</rights><rights>2016 Boattini et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. 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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. 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Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals</title><author>Boattini, Alessio ; Sarno, Stefania ; Bini, Carla ; Pesci, Valeria ; Barbieri, Chiara ; De Fanti, Sara ; Quagliariello, Andrea ; Pagani, Luca ; Ayub, Qasim ; Ferri, Gianmarco ; Pettener, Davide ; Luiselli, Donata ; Pelotti, Susi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c725t-495a98c101f160853536369dc50ee77615f7af8624425a0eff8522aae624138d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Anthropology</topic><topic>Biology and Life Sciences</topic><topic>Case studies</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Y - genetics</topic><topic>Computer and Information Sciences</topic><topic>Datasets</topic><topic>Discriminant analysis</topic><topic>Forensic Genetics</topic><topic>Forensic science</topic><topic>Genetic 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one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Boattini, Alessio</au><au>Sarno, Stefania</au><au>Bini, Carla</au><au>Pesci, Valeria</au><au>Barbieri, Chiara</au><au>De Fanti, Sara</au><au>Quagliariello, Andrea</au><au>Pagani, Luca</au><au>Ayub, Qasim</au><au>Ferri, Gianmarco</au><au>Pettener, Davide</au><au>Luiselli, Donata</au><au>Pelotti, Susi</au><au>Wang, Chuan-Chao</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2016-11-01</date><risdate>2016</risdate><volume>11</volume><issue>11</issue><spage>e0165678</spage><epage>e0165678</epage><pages>e0165678-e0165678</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>27802306</pmid><doi>10.1371/journal.pone.0165678</doi><tpages>e0165678</tpages><oa>free_for_read</oa></addata></record> |
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| issn | 1932-6203 1932-6203 |
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| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Public Library of Science (PLoS); PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Anthropology Biology and Life Sciences Case studies Chromosomes Chromosomes, Human, Y - genetics Computer and Information Sciences Datasets Discriminant analysis Forensic Genetics Forensic science Genetic aspects Genetic variability Haplotypes Humans Male Medicine and Health Sciences Microsatellite Repeats Multivariate analysis Mutation Mutation Rate Mutation rates Paternity Pedigree People and Places Phylogenetics Phylogeny Physical Sciences Short tandem repeats Social Sciences Y chromosomes |
| title | Mutation Rates and Discriminating Power for 13 Rapidly-Mutating Y-STRs between Related and Unrelated Individuals |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-18T10%3A37%3A53IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutation%20Rates%20and%20Discriminating%20Power%20for%2013%20Rapidly-Mutating%20Y-STRs%20between%20Related%20and%20Unrelated%20Individuals&rft.jtitle=PloS%20one&rft.au=Boattini,%20Alessio&rft.date=2016-11-01&rft.volume=11&rft.issue=11&rft.spage=e0165678&rft.epage=e0165678&rft.pages=e0165678-e0165678&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0165678&rft_dat=%3Cgale_plos_%3EA471797574%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1834883944&rft_id=info:pmid/27802306&rft_galeid=A471797574&rft_doaj_id=oai_doaj_org_article_48488560ad3f4bcfa4bb2368aac81178&rfr_iscdi=true |