Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Kaye Ballantyne; Arwin Ralf; R Aboukhalid; NM Achakzai; MJ Anjos; Q Ayub; J Balazic; J Ballantyne; DJ Ballard; B Berger; C Bobillo; M Bouabdellah; H Burri; T Capal; S Caratti; J Cardenas; F Cartault; EF Carvalho; M Carvalho; BW Cheng; MD Coble; D Comas; D Corach; ME D'Amato; S Davison; P de Knijff; MCA De Ungria; R Decorte; T Dobosz; BM Dupuy; S Elmrghni; M Gliwinski; SC Gomes; L Grol; C Haas; E Hanson; J Henke; L Henke; F Herrera-Rodriguez; CR Hill; G Holmlund; K Honda; UD Immel; S Inokuchi; MA Jobling; M Kaddura; JS Kim; SH Kim; W Kim; TE King; E Klausriegler; D Kling; L Kovacevic; L Kovatsi; P Krajewski; S Kravchenko; MHD Larmuseau; EY Lee; R Lessig; LA Livshits; D Marjanovic; M Minarik; N Mizuno; H Moreira; N Morling; M Mukherjee; P Munier; J Nagaraju; F Neuhuber; SJ Nie; P Nilasitsataporn; T Nishi; HH Oh; J Olofsson; V Onofri; JU Palo; H Pamjav; W Parson; M Petlach; C Phillips; R Ploski; SPR Prasad; D Primorac; GA Purnomo; J Purps; H Rangel-Villalobos; K Rebala; B Rerkamnuaychoke; DR Gonzalez; C Robino; L Roewer; A De Rosa; A Sajantila; A Sala; JM Salvador; P Sanz; C Schmitt; AK Sharma; DA De Silva; KJ Shin; T Sijen; M Sirker; D Sivakova; V Skaro; C Solano-Matamoros; L Souto; V Stenzl; H Sudoyo; D Syndercombe-Court; A Tagliabracci; D Taylor; A Tillmar; IS Tsybovsky; C Tyler-Smith; KJ van der Gaag; D Vanek; A Volgyi; D Ward; P Willemse; EPH Yap; RYY Yong; IZ Pajnic; Manfred Kayser

doi:10.1002/humu.22599

Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Kaye Ballantyne, Arwin Ralf, R Aboukhalid, NM Achakzai, MJ Anjos, Q Ayub, J Balazic, J Ballantyne, DJ Ballard, B Berger, C Bobillo, M Bouabdellah, H Burri, T Capal, S Caratti, J Cardenas, F Cartault, EF Carvalho, M Carvalho, BW ChengMD Coble, D Comas, D Corach, ME D'Amato, S Davison, P de Knijff, MCA De Ungria, R Decorte, T Dobosz, BM Dupuy, S Elmrghni, M Gliwinski, SC Gomes, L Grol, C Haas, E Hanson, J Henke, L Henke, F Herrera-Rodriguez, CR Hill, G Holmlund, K Honda, UD Immel, S Inokuchi, MA Jobling, M Kaddura, JS Kim, SH Kim, W Kim, TE King, E Klausriegler, D Kling, L Kovacevic, L Kovatsi, P Krajewski, S Kravchenko, MHD Larmuseau, EY Lee, R Lessig, LA Livshits, D Marjanovic, M Minarik, N Mizuno, H Moreira, N Morling, M Mukherjee, P Munier, J Nagaraju, F Neuhuber, SJ Nie, P Nilasitsataporn, T Nishi, HH Oh, J Olofsson, V Onofri, JU Palo, H Pamjav, W Parson, M Petlach, C Phillips, R Ploski, SPR Prasad, D Primorac, GA Purnomo, J Purps, H Rangel-Villalobos, K Rebala, B Rerkamnuaychoke, DR Gonzalez, C Robino, L Roewer, A De Rosa, A Sajantila, A Sala, JM Salvador, P Sanz, C Schmitt, AK Sharma, DA De Silva, KJ Shin, T Sijen, M Sirker, D Sivakova, V Skaro, C Solano-Matamoros, L Souto, V Stenzl, H Sudoyo, D Syndercombe-Court, A Tagliabracci, D Taylor, A Tillmar, IS Tsybovsky, C Tyler-Smith, KJ van der Gaag, D Vanek, A Volgyi, D Ward, P Willemse, EPH Yap, RYY Yong, IZ Pajnic, Manfred Kayser

Genetic Identification

Research output: Contribution to journal › Article › Academic › peer-review

156 Citations (Scopus)

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 RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**

Original language	Undefined/Unknown
Pages (from-to)	1021-1032
Number of pages	12
Journal	Human Mutation
Volume	35
Issue number	8
DOIs	https://doi.org/10.1002/humu.22599
Publication status	Published - 2014

Research programs

EMC MGC-02-26-01

Access to Document

10.1002/humu.22599

http://hdl.handle.net/1765/62333

Cite this

Ballantyne, K., Ralf, A., Aboukhalid, R., Achakzai, NM., Anjos, MJ., Ayub, Q., Balazic, J., Ballantyne, J., Ballard, DJ., Berger, B., Bobillo, C., Bouabdellah, M., Burri, H., Capal, T., Caratti, S., Cardenas, J., Cartault, F., Carvalho, EF., Carvalho, M., ... Kayser, M. (2014). Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats. Human Mutation, 35(8), 1021-1032. https://doi.org/10.1002/humu.22599

@article{20291312202f4cb9b504a284c11e09ad,

title = "Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats",

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 RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**",

author = "Kaye Ballantyne and Arwin Ralf and R Aboukhalid and NM Achakzai and MJ Anjos and Q Ayub and J Balazic and J Ballantyne and DJ Ballard and B Berger and C Bobillo and M Bouabdellah and H Burri and T Capal and S Caratti and J Cardenas and F Cartault and EF Carvalho and M Carvalho and BW Cheng and MD Coble and D Comas and D Corach and ME D'Amato and S Davison and {de Knijff}, P and {De Ungria}, MCA and R Decorte and T Dobosz and BM Dupuy and S Elmrghni and M Gliwinski and SC Gomes and L Grol and C Haas and E Hanson and J Henke and L Henke and F Herrera-Rodriguez and CR Hill and G Holmlund and K Honda and UD Immel and S Inokuchi and MA Jobling and M Kaddura and JS Kim and SH Kim and W Kim and TE King and E Klausriegler and D Kling and L Kovacevic and L Kovatsi and P Krajewski and S Kravchenko and MHD Larmuseau and EY Lee and R Lessig and LA Livshits and D Marjanovic and M Minarik and N Mizuno and H Moreira and N Morling and M Mukherjee and P Munier and J Nagaraju and F Neuhuber and SJ Nie and P Nilasitsataporn and T Nishi and HH Oh and J Olofsson and V Onofri and JU Palo and H Pamjav and W Parson and M Petlach and C Phillips and R Ploski and SPR Prasad and D Primorac and GA Purnomo and J Purps and H Rangel-Villalobos and K Rebala and B Rerkamnuaychoke and DR Gonzalez and C Robino and L Roewer and {De Rosa}, A and A Sajantila and A Sala and JM Salvador and P Sanz and C Schmitt and AK Sharma and {De Silva}, DA and KJ Shin and T Sijen and M Sirker and D Sivakova and V Skaro and C Solano-Matamoros and L Souto and V Stenzl and H Sudoyo and D Syndercombe-Court and A Tagliabracci and D Taylor and A Tillmar and IS Tsybovsky and C Tyler-Smith and {van der Gaag}, KJ and D Vanek and A Volgyi and D Ward and P Willemse and EPH Yap and RYY Yong and IZ Pajnic and Manfred Kayser",

year = "2014",

doi = "10.1002/humu.22599",

language = "Undefined/Unknown",

volume = "35",

pages = "1021--1032",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley & Sons Inc.",

number = "8",

}

Ballantyne, K, Ralf, A, Aboukhalid, R, Achakzai, NM, Anjos, MJ, Ayub, Q, Balazic, J, Ballantyne, J, Ballard, DJ, Berger, B, Bobillo, C, Bouabdellah, M, Burri, H, Capal, T, Caratti, S, Cardenas, J, Cartault, F, Carvalho, EF, Carvalho, M, Cheng, BW, Coble, MD, Comas, D, Corach, D, D'Amato, ME, Davison, S, de Knijff, P, De Ungria, MCA, Decorte, R, Dobosz, T, Dupuy, BM, Elmrghni, S, Gliwinski, M, Gomes, SC, Grol, L, Haas, C, Hanson, E, Henke, J, Henke, L, Herrera-Rodriguez, F, Hill, CR, Holmlund, G, Honda, K, Immel, UD, Inokuchi, S, Jobling, MA, Kaddura, M, Kim, JS, Kim, SH, Kim, W, King, TE, Klausriegler, E, Kling, D, Kovacevic, L, Kovatsi, L, Krajewski, P, Kravchenko, S, Larmuseau, MHD, Lee, EY, Lessig, R, Livshits, LA, Marjanovic, D, Minarik, M, Mizuno, N, Moreira, H, Morling, N, Mukherjee, M, Munier, P, Nagaraju, J, Neuhuber, F, Nie, SJ, Nilasitsataporn, P, Nishi, T, Oh, HH, Olofsson, J, Onofri, V, Palo, JU, Pamjav, H, Parson, W, Petlach, M, Phillips, C, Ploski, R, Prasad, SPR, Primorac, D, Purnomo, GA, Purps, J, Rangel-Villalobos, H, Rebala, K, Rerkamnuaychoke, B, Gonzalez, DR, Robino, C, Roewer, L, De Rosa, A, Sajantila, A, Sala, A, Salvador, JM, Sanz, P, Schmitt, C, Sharma, AK, De Silva, DA, Shin, KJ, Sijen, T, Sirker, M, Sivakova, D, Skaro, V, Solano-Matamoros, C, Souto, L, Stenzl, V, Sudoyo, H, Syndercombe-Court, D, Tagliabracci, A, Taylor, D, Tillmar, A, Tsybovsky, IS, Tyler-Smith, C, van der Gaag, KJ, Vanek, D, Volgyi, A, Ward, D, Willemse, P, Yap, EPH, Yong, RYY, Pajnic, IZ & Kayser, M 2014, 'Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats', Human Mutation, vol. 35, no. 8, pp. 1021-1032. https://doi.org/10.1002/humu.22599

TY - JOUR

T1 - Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

AU - Ballantyne, Kaye

AU - Ralf, Arwin

AU - Aboukhalid, R

AU - Achakzai, NM

AU - Anjos, MJ

AU - Ayub, Q

AU - Balazic, J

AU - Ballantyne, J

AU - Ballard, DJ

AU - Berger, B

AU - Bobillo, C

AU - Bouabdellah, M

AU - Burri, H

AU - Capal, T

AU - Caratti, S

AU - Cardenas, J

AU - Cartault, F

AU - Carvalho, EF

AU - Carvalho, M

AU - Cheng, BW

AU - Coble, MD

AU - Comas, D

AU - Corach, D

AU - D'Amato, ME

AU - Davison, S

AU - de Knijff, P

AU - De Ungria, MCA

AU - Decorte, R

AU - Dobosz, T

AU - Dupuy, BM

AU - Elmrghni, S

AU - Gliwinski, M

AU - Gomes, SC

AU - Grol, L

AU - Haas, C

AU - Hanson, E

AU - Henke, J

AU - Henke, L

AU - Herrera-Rodriguez, F

AU - Hill, CR

AU - Holmlund, G

AU - Honda, K

AU - Immel, UD

AU - Inokuchi, S

AU - Jobling, MA

AU - Kaddura, M

AU - Kim, JS

AU - Kim, SH

AU - Kim, W

AU - King, TE

AU - Klausriegler, E

AU - Kling, D

AU - Kovacevic, L

AU - Kovatsi, L

AU - Krajewski, P

AU - Kravchenko, S

AU - Larmuseau, MHD

AU - Lee, EY

AU - Lessig, R

AU - Livshits, LA

AU - Marjanovic, D

AU - Minarik, M

AU - Mizuno, N

AU - Moreira, H

AU - Morling, N

AU - Mukherjee, M

AU - Munier, P

AU - Nagaraju, J

AU - Neuhuber, F

AU - Nie, SJ

AU - Nilasitsataporn, P

AU - Nishi, T

AU - Oh, HH

AU - Olofsson, J

AU - Onofri, V

AU - Palo, JU

AU - Pamjav, H

AU - Parson, W

AU - Petlach, M

AU - Phillips, C

AU - Ploski, R

AU - Prasad, SPR

AU - Primorac, D

AU - Purnomo, GA

AU - Purps, J

AU - Rangel-Villalobos, H

AU - Rebala, K

AU - Rerkamnuaychoke, B

AU - Gonzalez, DR

AU - Robino, C

AU - Roewer, L

AU - De Rosa, A

AU - Sajantila, A

AU - Sala, A

AU - Salvador, JM

AU - Sanz, P

AU - Schmitt, C

AU - Sharma, AK

AU - De Silva, DA

AU - Shin, KJ

AU - Sijen, T

AU - Sirker, M

AU - Sivakova, D

AU - Skaro, V

AU - Solano-Matamoros, C

AU - Souto, L

AU - Stenzl, V

AU - Sudoyo, H

AU - Syndercombe-Court, D

AU - Tagliabracci, A

AU - Taylor, D

AU - Tillmar, A

AU - Tsybovsky, IS

AU - Tyler-Smith, C

AU - van der Gaag, KJ

AU - Vanek, D

AU - Volgyi, A

AU - Ward, D

AU - Willemse, P

AU - Yap, EPH

AU - Yong, RYY

AU - Pajnic, IZ

AU - Kayser, Manfred

PY - 2014

Y1 - 2014

N2 - 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 RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**

AB - 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 RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**

U2 - 10.1002/humu.22599

DO - 10.1002/humu.22599

M3 - Article

C2 - 24917567

SN - 1059-7794

VL - 35

SP - 1021

EP - 1032

JO - Human Mutation

JF - Human Mutation

IS - 8

ER -