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

Authors
 Kaye N Ballantyne  ;  Arwin Ralf  ;  Rachid Aboukhalid  ;  Niaz M Achakzai  ;  Maria J Anjos  ;  Qasim Ayub  ;  Jože Balažic  ;  Jack Ballantyne  ;  David J Ballard  ;  Burkhard Berger  ;  Cecilia Bobillo  ;  Mehdi Bouabdellah  ;  Helen Burri  ;  Tomas Capal  ;  Stefano Caratti  ;  Jorge Cárdenas  ;  François Cartault  ;  Elizeu F Carvalho  ;  Monica Carvalho  ;  Baowen Cheng  ;  Michael D Coble  ;  David Comas  ;  Daniel Corach  ;  Maria E D'Amato  ;  Sean Davison  ;  Peter de Knijff  ;  Maria Corazon A De Ungria  ;  Ronny Decorte  ;  Tadeusz Dobosz  ;  Berit M Dupuy  ;  Samir Elmrghni  ;  Mateusz Gliwiński  ;  Sara C Gomes  ;  Laurens Grol  ;  Cordula Haas  ;  Erin Hanson  ;  Jürgen Henke  ;  Lotte Henke  ;  Fabiola Herrera-Rodríguez  ;  Carolyn R Hill  ;  Gunilla Holmlund  ;  Katsuya Honda  ;  Uta-Dorothee Immel  ;  Shota Inokuchi  ;  Mark A Jobling  ;  Mahmoud Kaddura  ;  Jong S Kim  ;  Soon H Kim  ;  Wook Kim  ;  Turi E King  ;  Eva Klausriegler  ;  Daniel Kling  ;  Lejla Kovačević  ;  Leda Kovatsi  ;  Paweł Krajewski  ;  Sergey Kravchenko  ;  Maarten H D Larmuseau  ;  Eun Young Lee  ;  Ruediger Lessig  ;  Ludmila A Livshits  ;  Damir Marjanović  ;  Marek Minarik  ;  Natsuko Mizuno  ;  Helena Moreira  ;  Niels Morling  ;  Meeta Mukherjee  ;  Patrick Munier  ;  Javaregowda Nagaraju  ;  Franz Neuhuber  ;  Shengjie Nie  ;  Premlaphat Nilasitsataporn  ;  Takeki Nishi  ;  Hye H Oh  ;  Jill Olofsson  ;  Valerio Onofri  ;  Jukka U Palo  ;  Horolma Pamjav  ;  Walther Parson  ;  Michal Petlach  ;  Christopher Phillips  ;  Rafal Ploski  ;  Samayamantri P R Prasad  ;  Dragan Primorac  ;  Gludhug A Purnomo  ;  Josephine Purps  ;  Hector Rangel-Villalobos  ;  Krzysztof Rębała  ;  Budsaba Rerkamnuaychoke  ;  Danel Rey Gonzalez  ;  Carlo Robino  ;  Lutz Roewer  ;  Alexandra Rosa  ;  Antti Sajantila  ;  Andrea Sala  ;  Jazelyn M Salvador  ;  Paula Sanz  ;  Cornelia Schmitt  ;  Anil K Sharma  ;  Dayse A Silva  ;  Kyoung-Jin Shin  ;  Titia Sijen  ;  Miriam Sirker  ;  Daniela Siváková  ;  Vedrana Skaro  ;  Carlos Solano-Matamoros  ;  Luis Souto  ;  Vlastimil Stenzl  ;  Herawati Sudoyo  ;  Denise Syndercombe-Court  ;  Adriano Tagliabracci  ;  Duncan Taylor  ;  Andreas Tillmar  ;  Iosif S Tsybovsky  ;  Chris Tyler-Smith  ;  Kristiaan J van der Gaag  ;  Daniel Vanek  ;  Antónia Völgyi  ;  Denise Ward  ;  Patricia Willemse  ;  Eric P H Yap  ;  Rita Y Y Yong  ;  Irena Zupanič Pajnič  ;  Manfred Kayser 
Citation
 HUMAN MUTATION, Vol.35(8) : 1021-1032, 2014-08 
Journal Title
 HUMAN MUTATION 
ISSN
 1059-7794 
Issue Date
2014-08
MeSH
Africa ; Alleles ; Americas ; Asia ; Chromosomes, Human, Y / chemistry* ; DNA Fingerprinting / methods* ; DNA Fingerprinting / statistics & numerical data ; Europe ; Gene Frequency ; Genetic Variation ; Genetics, Population* ; Haplotypes* ; Humans ; Male ; Microsatellite Repeats* ; Paternity ; Pedigree ; Rural Population ; Urban Population
Keywords
RM Y-STRs ; Y-STRs ; Y-chromosome ; forensic ; haplotypes ; paternal lineage
Abstract
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.
Files in This Item:
T201406508.pdf Download
DOI
10.1002/humu.22599
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers
Yonsei Authors
Shin, Kyoung Jin(신경진) ORCID logo https://orcid.org/0000-0002-1059-9665
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/178473
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