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10. Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

Author

Klausegger, Alfred, primary, Jeschko, Niklas, additional, Grammer, Markus, additional, Cemper-Kiesslich, Jan, additional, Neuhuber, Franz, additional, Diem, Anja, additional, Breitenbach-Koller, Hannelore, additional, Sander, Gabriele, additional, Kotzot, Dieter, additional, Bauer, Johann Wolfgang, additional, and Laimer, Martin, additional

Published
2022
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13. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author

Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J., Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F., Carvalho, Monica, Cheng, Baowen, Coble, Michael D., Comas, David, Corach, Daniel, DʼAmato, Maria E., Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A., Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M., Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H. D., Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A., Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Olofsson, Jill, Onofri, Valerio, Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P. R., Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M., Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Silva, Dayse A., Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Škaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S., Tyler-Smith, Chris, van der Gaag, Kristiaan J., Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P.H., Yong, Rita Y.Y., Zupanič Pajnič, Irena, and Kayser, Manfred

Published
2014
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15. Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat

Author

Brinkmann, Bernd, Klintschar, Michael, Neuhuber, Franz, Huhne, Julia, and Rolf, Burkhard

Subjects
Population genetics -- Research, Mutation (Biology) -- Statistics, Heredity, Human -- Statistics, DNA -- Research, Genetic disorders -- Research, Biological sciences
Abstract

Mutation rates of different loci may differ by several orders of magnitude and different alleles at one locus show different rates of mutation based on research carried out to investigate meioses in one pentameric and eight tetrameric loci with an eye to influence of the length and structure of the tandem repeat. Studies related to microsatellites have been carried out for mutation events in eukaryotes, but data for humans have been lacking. In 10,844 parent/child allelic transfers at nine short-tandem-repeat (STR) loci, 23 isolated STR mismatches have been seen with a positive exponential correlation found between the geometric mean of the number of uninterrupted repeats and the mutation rate. Most of the variation at microsatellite loci seems to be from males.

Published
1998

24. Proceedings of the Royal Society B: Biological Sciences / Elevated germline mutation rate in teenage fathers

Author

Forster, Peter, Hohoff, Carsten, Dunkelmann, Bettina, Schürenkamp, Marianne, Pfeiffer, Heidi, Neuhuber, Franz, and Brinkmann, Bernd

Subjects
stem cell, immortality, ageing, oogenesis, molecular clock, spermatogenesis
Abstract

Men age and die, while cells in their germline are programmed to be immortal. To elucidate how germ cells maintain viable DNA despite increasing parental age, we analysed DNA from 24 097 parents and their children, from Europe, the Middle East and Africa. We chose repetitive microsatellite DNA that mutates (unlike point mutations) only as a result of cellular replication, providing us with a natural ‘cell-cycle counter. We observe, as expected, that the overall mutation rate for fathers is seven times higher than for mothers. Also as expected, mothers have a low and lifelong constant DNA mutation rate. Surprisingly, however, we discover that (i) teenage fathers already set out from a much higher mutation rate than teenage mothers (potentially equivalent to 77196 male germline cell divisions by puberty); and (ii) ageing men maintain sperm DNA quality similar to that of teenagers, presumably by using fresh batches of stem cells known as ‘A-dark spermatogonia. (VLID)2897746

Published
2015
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25. Towards male individualization with rapidly mutating Y-chromosomal STRs

Author

Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, and Kayser, Manfred

Abstract

Relevant for various areas of human genetics, Y-chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst 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: 0.99919-0.9999988). 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% non-unique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA 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 fathers/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.

Published
2014
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29. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author

Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, Kayser, Manfred, Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, and Kayser, Manfred

Abstract

Relevant for various areas of human genetics, Y-chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst 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: 0.99919-0.9999988). 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% non-unique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA 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 fathers/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. This article is protected by copyright. All rights reserved.

Published
2014

30. Pasture Names with Romance and Slavic Roots Facilitate Dissection of Y Chromosome Variation in an Exclusively German-Speaking Alpine Region

Author

Niederstätter, Harald, primary, Rampl, Gerhard, additional, Erhart, Daniel, additional, Pitterl, Florian, additional, Oberacher, Herbert, additional, Neuhuber, Franz, additional, Hausner, Isolde, additional, Gassner, Christoph, additional, Schennach, Harald, additional, Berger, Burkhard, additional, and Parson, Walther, additional

Published
2012
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