Toward male individualization with rapidly mutating y-chromosomal short tandem repeats

Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and...

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Detalles Bibliográficos
Autores: Ballantyne, Kaye N., Comas, David, 1969-, Sanz, Paula, Kayser, Manfred
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2014
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/28106
Acceso en línea:http://hdl.handle.net/10230/28106
http://dx.doi.org/10.1002/humu.22599
Access Level:acceso abierto
Palabra clave:Cromosoma Y
Genètica de poblacions humanes
Ressenya genètica
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spelling Toward male individualization with rapidly mutating y-chromosomal short tandem repeatsBallantyne, Kaye N.Comas, David, 1969-Sanz, PaulaKayser, ManfredCromosoma YGenètica de poblacions humanesRessenya genèticaRelevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. 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. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except 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 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 overall 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.Wiley201720172014info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/28106http://dx.doi.org/10.1002/humu.22599reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésHuman Mutation. 2014 Aug;35(8):1021-32© 2014, Kaye N. Ballantyne et al. ∗∗Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly citedhttps://creativecommons.org/licenses/by/3.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/281062026-06-12T07:21:37Z
dc.title.none.fl_str_mv Toward male individualization with rapidly mutating y-chromosomal short tandem repeats
title Toward male individualization with rapidly mutating y-chromosomal short tandem repeats
spellingShingle Toward male individualization with rapidly mutating y-chromosomal short tandem repeats
Ballantyne, Kaye N.
Cromosoma Y
Genètica de poblacions humanes
Ressenya genètica
title_short Toward male individualization with rapidly mutating y-chromosomal short tandem repeats
title_full Toward male individualization with rapidly mutating y-chromosomal short tandem repeats
title_fullStr Toward male individualization with rapidly mutating y-chromosomal short tandem repeats
title_full_unstemmed Toward male individualization with rapidly mutating y-chromosomal short tandem repeats
title_sort Toward male individualization with rapidly mutating y-chromosomal short tandem repeats
dc.creator.none.fl_str_mv Ballantyne, Kaye N.
Comas, David, 1969-
Sanz, Paula
Kayser, Manfred
author Ballantyne, Kaye N.
author_facet Ballantyne, Kaye N.
Comas, David, 1969-
Sanz, Paula
Kayser, Manfred
author_role author
author2 Comas, David, 1969-
Sanz, Paula
Kayser, Manfred
author2_role author
author
author
dc.subject.none.fl_str_mv Cromosoma Y
Genètica de poblacions humanes
Ressenya genètica
topic Cromosoma Y
Genètica de poblacions humanes
Ressenya genètica
description Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. 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. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except 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 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 overall 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.
publishDate 2014
dc.date.none.fl_str_mv 2014
2017
2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/28106
http://dx.doi.org/10.1002/humu.22599
url http://hdl.handle.net/10230/28106
http://dx.doi.org/10.1002/humu.22599
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Human Mutation. 2014 Aug;35(8):1021-32
dc.rights.none.fl_str_mv https://creativecommons.org/licenses/by/3.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/3.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Wiley
publisher.none.fl_str_mv Wiley
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
repository.name.fl_str_mv
repository.mail.fl_str_mv
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