Rapid Communication
Mutation rates at Y chromosome specific microsatellites†
†
Communicated by Peter Oefner
Abstract
A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP‐ISFG) to estimate Y‐STR mutation rates. Seventeen Y chromosome STR loci (DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, DYS635 [GATA C4], GATA H4, and GATA A10) were analyzed in a sample of 3,026 father/son pairs. Among 27,029 allele transfers, 54 mutations were observed, with an overall mutation rate across the 17 loci of 1.998 × 10–3 (95% CI, 1.501 × 10–3 to 2.606 × 10–3). With just one exception, all of the mutations were single‐step, and they were observed only once per gametogenesis. Repeat gains were more frequent than losses, longer alleles were found to be more mutable, and the mutation rate seemed to increase with the father's age. Hum Mutat 26(6), 520–528, 2005. © 2005 Wiley‐Liss, Inc.
Citing Literature
Number of times cited according to CrossRef: 106
- Nelson Rivera Franco, Yamid Braga, Marisol Espitia Fajardo, Guillermo Barreto, Identifying new lineages in the Y chromosome of Colombian Amazon indigenous populations, American Journal of Physical Anthropology, 10.1002/ajpa.24039, 172, 2, (165-175), (2020).
- Arwin Ralf, Delano Lubach, Nefeli Kousouri, Christian Winkler, Iris Schulz, Lutz Roewer, Josephine Purps, Rüdiger Lessig, Pawel Krajewski, Rafal Ploski, Tadeusz Dobosz, Lotte Henke, Jürgen Henke, Maarten H. D. Larmuseau, Manfred Kayser, Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers, Human Mutation, 10.1002/humu.24068, 41, 9, (1680-1696), (2020).
- Chiara Della Rocca, Francesco Cannone, Eugenia D'Atanasio, Maria Bonito, Paolo Anagnostou, Gianluca Russo, Filippo Barni, Eugenio Alladi, Giovanni Destro-Bisol, Beniamino Trombetta, Andrea Berti, Fulvio Cruciani, Title: Ethnic fragmentation and degree of urbanization strongly affect the discrimination power of Y-STR haplotypes in central Sahel, Forensic Science International: Genetics, 10.1016/j.fsigen.2020.102374, (102374), (2020).
- Isabela Brunelli Ambrosio, Danilo Faustino Braganholi, Larissa Barros Muniz Orlando, Natalia Carolina Andrekenas, Isabel da Mota Pontes, Dayse Aparecida da Silva, Spartaco Astolfi-Filho, Elizeu Fagundes de Carvalho, Regina Maria Barretto Cicarelli, Leonor Gusmão, Mutational data and population profiling of 23 Y-STRs in three Brazilian populations, Forensic Science International: Genetics, 10.1016/j.fsigen.2020.102348, (102348), (2020).
- Jiashuo Zhang, Jingyi Zhang, Ruiyang Tao, Hui Hu, Longfei Miao, Lu Qiao, Xuewei Xu, Suhua Zhang, Chengtao Li, Mutation rates in father-son pairs of the 27 Y-STR loci in the Dezhou Han population from Shandong province, eastern China, Journal of Forensic and Legal Medicine, 10.1016/j.jflm.2019.06.015, 67, (61-63), (2019).
- Carla García-Fernández, Francesc Calafell, The Parallel Lives of Human Y Chromosome Lineages Across the Strait of Gibraltar, Evolution, Origin of Life, Concepts and Methods, 10.1007/978-3-030-30363-1, (217-231), (2019).
- Sofie Claerhout, Michiel Vandenbosch, Kelly Nivelle, Leen Gruyters, Anke Peeters, Maarten H.D. Larmuseau, Ronny Decorte, Determining Y-STR mutation rates in deep-routing genealogies: Identification of haplogroup differences, Forensic Science International: Genetics, 10.1016/j.fsigen.2018.01.005, 34, (1-10), (2018).
- Pengyu Chen, Guanglin He, Xing Zou, Xin Zhang, Jida Li, Zhisong Wang, Hongyan Gao, Li Luo, Zhongqing Zhang, Jian Yu, Yanyan Han, Genetic diversities and phylogenetic analyses of three Chinese main ethnic groups in southwest China: A Y-Chromosomal STR study, Scientific Reports, 10.1038/s41598-018-33751-x, 8, 1, (2018).
- Cheng-Min Shi, Changzhen Li, Liang Ma, Lianjiang Chi, Jing Zhao, Wuzhou Yuan, Zhendiao Zhou, Jiang-Wei Yan, Hua Chen, Inferring Chinese surnames with Y-STR profiles, Forensic Science International: Genetics, 10.1016/j.fsigen.2017.11.014, 33, (66-71), (2018).
- Tunde I. Huszar, Mark A. Jobling, Jon H. Wetton, A phylogenetic framework facilitates Y-STR variant discovery and classification via massively parallel sequencing, Forensic Science International: Genetics, 10.1016/j.fsigen.2018.03.012, 35, (97-106), (2018).
- Atif Adnan, Allah Rakha, Oscar Lao, Manfred Kayser, Mutation analysis at 17 Y-STR loci (Yfiler) in father-son pairs of male pedigrees from Pakistan, Forensic Science International: Genetics, 10.1016/j.fsigen.2018.07.001, 36, (e17-e18), (2018).
- Elif Mertoglu, Gonul Filoglu, Tolga Zorlu, Ozlem Bulbul, Estimation of the Y-chromosomal short tandem repeat (Y-STR) mutation rates in Turkey, Turkish Journal of Biochemistry, 10.1515/tjb-2017-0240, 43, 2, (142-150), (2018).
- Thaís Cidália Vieira, Marc Alexandre Duarte Gigonzac, Ricardo Goulart Rodovalho, Luana Morais Cavalcanti, Lysa Bernardes Minasi, Flávia Melo Rodrigues, Aparecido Divino da Cruz, Mutation rates in 21 autosomal short tandem repeat loci in a population from Goiás, Brazil, ELECTROPHORESIS, 10.1002/elps.201700192, 38, 21, (2791-2794), (2017).
- S. Antão-Sousa, P. Sánchez-Diz, M. Abovich, J.C. Alvarez, E.F. Carvalho, C.M.D. Silva, P. Domingues, M.J. Farfán, A. Gutierrez, L. Pontes, M.J. Porto, Y. Posada, T. Restrepo, R. Rodenbusch, O.A. Santapá, S. Schumacher, D. Suárez, C.V. Silva, C. Vullo, N. Pinto, L. Gusmão, Mutation rates and segregation data on 16 Y-STRs: An update to previous GHEP-ISFG studies, Forensic Science International: Genetics Supplement Series, 10.1016/j.fsigss.2017.10.008, 6, (e601-e602), (2017).
- Chiara Batini, Mark A. Jobling, Detecting past male-mediated expansions using the Y chromosome, Human Genetics, 10.1007/s00439-017-1781-z, 136, 5, (547-557), (2017).
- Mikkel Meyer Andersen, Helle Smidt Mogensen, Poul Svante Eriksen, Niels Morling, YfilerⓇ Plus population samples and dilution series: stutters, analytic thresholds, and drop-out probabilities, International Journal of Legal Medicine, 10.1007/s00414-017-1568-8, 131, 6, (1503-1511), (2017).
- Maxat Zhabagin, Elena Balanovska, Zhaxylyk Sabitov, Marina Kuznetsova, Anastasiya Agdzhoyan, Olga Balaganskaya, Marina Chukhryaeva, Nadezhda Markina, Alexey Romanov, Roza Skhalyakho, Valery Zaporozhchenko, Liudmila Saroyants, Dilbar Dalimova, Damir Davletchurin, Shahlo Turdikulova, Yuldash Yusupov, Inkar Tazhigulova, Ainur Akilzhanova, Chris Tyler-Smith, Oleg Balanovsky, The Connection of the Genetic, Cultural and Geographic Landscapes of Transoxiana, Scientific Reports, 10.1038/s41598-017-03176-z, 7, 1, (2017).
- Yunzhi Huang, Hui Li, Correlation Between Genetic Structure and Linguistic Phylogeny in East Asia, Languages and Genes in Northwestern China and Adjacent Regions, 10.1007/978-981-10-4169-3, (13-36), (2017).
- Neus Solé-Morata, Carla García-Fernández, Vadim Urasin, Asmahan Bekada, Karima Fadhlaoui-Zid, Pierre Zalloua, David Comas, Francesc Calafell, Whole Y-chromosome sequences reveal an extremely recent origin of the most common North African paternal lineage E-M183 (M81), Scientific Reports, 10.1038/s41598-017-16271-y, 7, 1, (2017).
- O. Balanovsky, M. Chukhryaeva, V. Zaporozhchenko, V. Urasin, M. Zhabagin, A. Hovhannisyan, A. Agdzhoyan, K. Dibirova, M. Kuznetsova, S. Koshel, E. Pocheshkhova, I. Alborova, R. Skhalyakho, O. Utevska, Kh. Mustafin, L. Yepiskoposyan, C. Tyler-Smith, E. Balanovska, Genetic differentiation between upland and lowland populations shapes the Y-chromosomal landscape of West Asia, Human Genetics, 10.1007/s00439-017-1770-2, 136, 4, (437-450), (2017).
- Sakshi Singh, Ashish Singh, Raja Rajkumar, Katakam Sampath Kumar, Subburaj Kadarkarai Samy, Sheikh Nizamuddin, Amita Singh, Shahnawaz Ahmed Sheikh, Vidya Peddada, Vinee Khanna, Pandichelvam Veeraiah, Aridaman Pandit, Gyaneshwer Chaubey, Lalji Singh, Kumarasamy Thangaraj, Dissecting the influence of Neolithic demic diffusion on Indian Y-chromosome pool through J2-M172 haplogroup, Scientific Reports, 10.1038/srep19157, 6, 1, (2016).
- M.M.S.G. Cardena, A.J. Mansur, A.C. Pereira, C. Fridman, Y haplotype variability in a population of SÃO Paulo state, Brazil, Forensic Science International: Genetics, 10.1016/j.fsigen.2016.05.003, 23, (e22-e23), (2016).
- O. P. Balanovsky, V. V. Zaporozhchenko, Chromosome as a chronicler: Genetic dating, historical events, and DNA-genealogic temptation, Russian Journal of Genetics, 10.1134/S1022795416070048, 52, 7, (708-725), (2016).
- M. I. Chukhryaeva, I. O. Ivanov, S. A. Frolova, S. M. Koshel, O. M. Utevska, R. A. Skhalyakho, A. T. Agdzhoyan, Yu. V. Bogunov, E. V. Balanovska, O. P. Balanovsky, The haplomatch program for comparing Y-chromosome STR-haplotypes and its application to the analysis of the origin of Don Cossacks, Russian Journal of Genetics, 10.1134/S1022795416050045, 52, 5, (521-529), (2016).
- Pedro A. Soares, Jean A. Trejaut, Teresa Rito, Bruno Cavadas, Catherine Hill, Ken Khong Eng, Maru Mormina, Andreia Brandão, Ross M. Fraser, Tse-Yi Wang, Jun-Hun Loo, Christopher Snell, Tsang-Ming Ko, António Amorim, Maria Pala, Vincent Macaulay, David Bulbeck, James F. Wilson, Leonor Gusmão, Luísa Pereira, Stephen Oppenheimer, Marie Lin, Martin B. Richards, Resolving the ancestry of Austronesian-speaking populations, Human Genetics, 10.1007/s00439-015-1620-z, 135, 3, (309-326), (2016).
- Pankaj Shrivastava, Veena Ben Trivedi, Toshi Jain, Mehmood Ali, An unusual occurrence of repeated single allele variation on Y-STR locus DYS458, Egyptian Journal of Forensic Sciences, 10.1016/j.ejfs.2015.05.003, 6, 3, (289-291), (2016).
- Stefania Turrina, Stefano Caratti, Melissa Ferrian, Domenico De Leo, Are rapidly mutating Y‐short tandem repeats useful to resolve a lineage? Expanding mutability data on distant male relationships, Transfusion, 10.1111/trf.13368, 56, 2, (533-538), (2015).
- Nano Nagle, Kaye N. Ballantyne, Mannis van Oven, Chris Tyler‐Smith, Yali Xue, Duncan Taylor, Stephen Wilcox, Leah Wilcox, Rust Turkalov, Roland A.H. van Oorschot, Peter McAllister, Lesley Williams, Manfred Kayser, Robert J. Mitchell, Antiquity and diversity of aboriginal Australian Y‐chromosomes, American Journal of Physical Anthropology, 10.1002/ajpa.22886, 159, 3, (367-381), (2015).
- Neus Solé-Morata, Jaume Bertranpetit, David Comas, Francesc Calafell, Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency, European Journal of Human Genetics, 10.1038/ejhg.2015.14, 23, 11, (1549-1557), (2015).
- M.E. Sánchez, G. Burgos, A. Gaviria, V. Aguirre, M. Vela, P.E. Leone, C. Paz-y-Miño, Y STRs mutation events in father-son pairs in Ecuadorian individuals, Forensic Science International: Genetics Supplement Series, 10.1016/j.fsigss.2015.09.123, 5, (e310-e311), (2015).
- N. Pinto, C. Alves, L. Gusmão, A. Amorim, Theory and statistics of mutation rates: A mathematical framework reformulation for forensic applications, Forensic Science International: Genetics Supplement Series, 10.1016/j.fsigss.2015.09.053, 5, (e131-e132), (2015).
- Xiao‐Qin Qian, Cai‐Yong Yin, Qiang Ji, Kai Li, Han‐Ting Fan, Yan‐Fang Yu, Fan‐Li Bu, Ling‐Li Hu, Jian‐Wen Wang, Hao‐Fang Mu, Steven Haigh, Feng Chen, Mutation rate analysis at 19 autosomal microsatellites, ELECTROPHORESIS, 10.1002/elps.201400558, 36, 14, (1633-1639), (2015).
- Toni M. Diegoli, Forensic typing of short tandem repeat markers on the X and Y chromosomes, Forensic Science International: Genetics, 10.1016/j.fsigen.2015.03.013, 18, (140-151), (2015).
- Chuan-Chao Wang, Ling-Xiang Wang, Rukesh Shrestha, Shaoqing Wen, Manfei Zhang, Xinzhu Tong, Li Jin, Hui Li, Convergence of Y Chromosome STR Haplotypes from Different SNP Haplogroups Compromises Accuracy of Haplogroup Prediction, Journal of Genetics and Genomics, 10.1016/j.jgg.2015.03.008, 42, 7, (403-407), (2015).
- John M. Butler, Lineage Marker Statistics, Advanced Topics in Forensic DNA Typing: Interpretation, 10.1016/B978-0-12-405213-0.00015-4, (403-444), (2015).
- Oleg Balanovsky, Maxat Zhabagin, Anastasiya Agdzhoyan, Marina Chukhryaeva, Valery Zaporozhchenko, Olga Utevska, Gareth Highnam, Zhaxylyk Sabitov, Elliott Greenspan, Khadizhat Dibirova, Roza Skhalyakho, Marina Kuznetsova, Sergey Koshel, Yuldash Yusupov, Pagbajabyn Nymadawa, Zhaxybay Zhumadilov, Elvira Pocheshkhova, Marc Haber, Pierre A. Zalloua, Levon Yepiskoposyan, Anna Dybo, Chris Tyler-Smith, Elena Balanovska, Deep Phylogenetic Analysis of Haplogroup G1 Provides Estimates of SNP and STR Mutation Rates on the Human Y-Chromosome and Reveals Migrations of Iranic Speakers, PLOS ONE, 10.1371/journal.pone.0122968, 10, 4, (e0122968), (2015).
- Nicole Nascimento Da Fré, Rodrigo Rodenbusch, André Zoratto Gastaldo, Erin Hanson, Jack Ballantyne, Clarice Sampaio Alho, Genetic data and de novo mutation rates in father-son pairs of 23 Y-STR loci in Southern Brazil population, International Journal of Legal Medicine, 10.1007/s00414-014-1101-2, 129, 6, (1221-1223), (2014).
- Patricia Balaresque, Turi E. King, Emma J. Parkin, Evelyne Heyer, Denise Carvalho‐Silva, Thirsa Kraaijenbrink, Peter Knijff, Chris Tyler‐Smith, Mark A. Jobling, Gene Conversion Violates the Stepwise Mutation Model for Microsatellites in Y‐Chromosomal Palindromic Repeats, Human Mutation, 10.1002/humu.22542, 35, 5, (609-617), (2014).
- Meryanne K Tumonggor, Tatiana M Karafet, Sean Downey, J Stephen Lansing, Peter Norquest, Herawati Sudoyo, Michael F Hammer, Murray P Cox, Isolation, contact and social behavior shaped genetic diversity in West Timor, Journal of Human Genetics, 10.1038/jhg.2014.62, 59, 9, (494-503), (2014).
- Nádia Pinto, Leonor Gusmão, António Amorim, Mutation and mutation rates at Y chromosome specific Short Tandem Repeat Polymorphisms (STRs): A reappraisal, Forensic Science International: Genetics, 10.1016/j.fsigen.2013.10.008, 9, (20-24), (2014).
- Toni M. Diegoli, Adrian Linacre, Moses S. Schanfield, Michael D. Coble, Mutation rates of 15 X chromosomal short tandem repeat markers, International Journal of Legal Medicine, 10.1007/s00414-014-1016-y, 128, 4, (579-587), (2014).
- Eszter Rockenbauer, Stine Hansen, Martin Mikkelsen, Claus Børsting, Niels Morling, Characterization of mutations and sequence variants in the D21S11 locus by next generation sequencing, Forensic Science International: Genetics, 10.1016/j.fsigen.2013.06.011, 8, 1, (68-72), (2014).
- Wenjing Chen, Weiwei Wu, Jianding Cheng, Yinming Zhang, Yong Chen, Hongyu Sun, Detection of the deletion on Yp11.2 in a Chinese population, Forensic Science International: Genetics, 10.1016/j.fsigen.2013.07.003, 8, 1, (73-79), (2014).
- Meryanne K Tumonggor, Tatiana M Karafet, Brian Hallmark, J Stephen Lansing, Herawati Sudoyo, Michael F Hammer, Murray P Cox, The Indonesian archipelago: an ancient genetic highway linking Asia and the Pacific, Journal of Human Genetics, 10.1038/jhg.2012.154, 58, 3, (165-173), (2013).
- Adil Laouina, Sellama Nadifi, Redouane Boulouiz, Marzouk El Arji, Jalal Talbi, Brahim El Houate, Hakima Yahia, Faiza Chbel, Mutation rate at 17 Y-STR loci in “Father/Son” pairs from moroccan population, Legal Medicine, 10.1016/j.legalmed.2013.03.003, 15, 5, (269-271), (2013).
- Chuan-Chao Wang, Hui Li, Inferring human history in East Asia from Y chromosomes, Investigative Genetics, 10.1186/2041-2223-4-11, 4, 1, (11), (2013).
- Cordula Haas, Natallia Shved, Frank Jakobus Rühli, Christina Papageorgopoulou, Josephine Purps, Maria Geppert, Sascha Willuweit, Lutz Roewer, Michael Krawczak, Y-chromosomal analysis identifies the skeletal remains of Swiss national hero Jörg Jenatsch (1596–1639), Forensic Science International: Genetics, 10.1016/j.fsigen.2013.08.006, 7, 6, (610-617), (2013).
- Naser Ansari Pour, Christopher A Plaster, Neil Bradman, Evidence from Y-chromosome analysis for a late exclusively eastern expansion of the Bantu-speaking people, European Journal of Human Genetics, 10.1038/ejhg.2012.176, 21, 4, (423-429), (2012).
- M. A. Jobling, The impact of recent events on human genetic diversity, Philosophical Transactions of the Royal Society B: Biological Sciences, 10.1098/rstb.2011.0297, 367, 1590, (793-799), (2012).
- Glenn Yannic, Patrick Basset, Lucie Büchi, Jacques Hausser, Thomas Broquet, SCALE‐SPECIFIC SEX‐BIASED DISPERSAL IN THE VALAIS SHREW UNVEILED BY GENETIC VARIATION ON THE Y CHROMOSOME, AUTOSOMES, AND MITOCHONDRIAL DNA, Evolution, 10.1111/j.1558-5646.2011.01554.x, 66, 6, (1737-1750), (2012).
- John M. Butler, Quality Assurance and Validation, Advanced Topics in Forensic DNA Typing, 10.1016/B978-0-12-374513-2.00007-5, (167-211), (2012).
- M. Veselsky, Order of Precedence and Age of Y-DNA Haplotypes, Journal of Computational Biology, 10.1089/cmb.2012.0193, 19, 11, (1243-1250), (2012).
- John M. Butler, Y-Chromosome DNA Testing, Advanced Topics in Forensic DNA Typing, 10.1016/B978-0-12-374513-2.00013-0, (371-403), (2012).
- Harald Niederstätter, Gerhard Rampl, Daniel Erhart, Florian Pitterl, Herbert Oberacher, Franz Neuhuber, Isolde Hausner, Christoph Gassner, Harald Schennach, Burkhard Berger, Walther Parson, Pasture Names with Romance and Slavic Roots Facilitate Dissection of Y Chromosome Variation in an Exclusively German-Speaking Alpine Region, PLoS ONE, 10.1371/journal.pone.0041885, 7, 7, (e41885), (2012).
- George B. J. Busby, Francesca Brisighelli, Paula Sánchez-Diz, Eva Ramos-Luis, Conrado Martinez-Cadenas, Mark G. Thomas, Daniel G. Bradley, Leonor Gusmão, Bruce Winney, Walter Bodmer, Marielle Vennemann, Valentina Coia, Francesca Scarnicci, Sergio Tofanelli, Giuseppe Vona, Rafal Ploski, Carla Vecchiotti, Tatijana Zemunik, Igor Rudan, Sena Karachanak, Draga Toncheva, Paolo Anagnostou, Gianmarco Ferri, Cesare Rapone, Tor Hervig, Torolf Moen, James F. Wilson, Cristian Capelli, The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269, Proceedings of the Royal Society B: Biological Sciences, 10.1098/rspb.2011.1044, 279, 1730, (884-892), (2011).
- Arne Jochens, Amke Caliebe, Uwe Rösler, Michael Krawczak, Empirical Evaluation Reveals Best Fit of a Logistic Mutation Model for Human Y-Chromosomal Microsatellites, Genetics, 10.1534/genetics.111.132308, 189, 4, (1403-1411), (2011).
- Oleg Balanovsky, Khadizhat Dibirova, Anna Dybo, Oleg Mudrak, Svetlana Frolova, Elvira Pocheshkhova, Marc Haber, Daniel Platt, Theodore Schurr, Wolfgang Haak, Marina Kuznetsova, Magomed Radzhabov, Olga Balaganskaya, Alexey Romanov, Tatiana Zakharova, David F. Soria Hernanz, Pierre Zalloua, Sergey Koshel, Merritt Ruhlen, Colin Renfrew, R. Spencer Wells, Chris Tyler-Smith, Elena Balanovska, Parallel Evolution of Genes and Languages in the Caucasus Region, Molecular Biology and Evolution, 10.1093/molbev/msr126, 28, 10, (2905-2920), (2011).
- Fulvio Cruciani, Beniamino Trombetta, Cheyenne Antonelli, Roberto Pascone, Guido Valesini, Valentina Scalzi, Giuseppe Vona, Bela Melegh, Boris Zagradisnik, Guenter Assum, Georgi D. Efremov, Daniele Sellitto, Rosaria Scozzari, Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152, Forensic Science International: Genetics, 10.1016/j.fsigen.2010.07.006, 5, 3, (e49-e52), (2011).
- Miguel Marino, Sandra Furfuro, Haplotype frequencies and mutation rates for 17 Y-STRs in a sample from Mendoza province (Argentina), Forensic Science International: Genetics Supplement Series, 10.1016/j.fsigss.2011.08.032, 3, 1, (e65-e66), (2011).
- Concetta Burgarella, Miguel Navascués, Mutation rate estimates for 110 Y-chromosome STRs combining population and father–son pair data, European Journal of Human Genetics, 10.1038/ejhg.2010.154, 19, 1, (70-75), (2010).
- Anna J. MacDonald, Stephen D. Sarre, Nancy N. FitzSimmons, Nicola Aitken, Determining microsatellite genotyping reliability and mutation detection ability: an approach using small-pool PCR from sperm DNA, Molecular Genetics and Genomics, 10.1007/s00438-010-0577-9, 285, 1, (1-18), (2010).
- Verónica Gomes, Paula Sánchez-Diz, António Amorim, Ángel Carracedo, Leonor Gusmão, Digging deeper into East African human Y chromosome lineages, Human Genetics, 10.1007/s00439-010-0808-5, 127, 5, (603-613), (2010).
- Giovanna Bellusci, Paola Blasi, Galina Vershubsky, Alexey Suvorov, Andrea Novelletto, Andrey Kozlov, The landscape of Y chromosome polymorphisms in Russia, Annals of Human Biology, 10.3109/03014461003614358, 37, 3, (367-384), (2010).
- MAJA P. GREMINGER, MICHAEL KRÜTZEN, CLAUDE SCHELLING, ALDONA PIENKOWSKA–SCHELLING, PETER WANDELER, The quest for Y‐chromosomal markers – methodological strategies for mammalian non‐model organisms, Molecular Ecology Resources, 10.1111/j.1755-0998.2009.02798.x, 10, 3, (409-420), (2010).
- Barbara van Asch, Raquel Pinheiro, Rui Pereira, Cíntia Alves, Vânia Pereira, Filipe Pereira, Leonor Gusmão, António Amorim, A framework for the development of STR genotyping in domestic animal species: Characterization and population study of 12 canine X‐chromosome loci, ELECTROPHORESIS, 10.1002/elps.200900389, 31, 2, (303-308), (2010).
- John M. Butler, Lineage Markers, Fundamentals of Forensic DNA Typing, 10.1016/B978-0-12-374999-4.00016-3, (363-396), (2010).
- Kaye N. Ballantyne, Miriam Goedbloed, Rixun Fang, Onno Schaap, Oscar Lao, Andreas Wollstein, Ying Choi, Kate van Duijn, Mark Vermeulen, Silke Brauer, Ronny Decorte, Micaela Poetsch, Nicole von Wurmb-Schwark, Peter de Knijff, Damian Labuda, Hélène Vézina, Hans Knoblauch, Rüdiger Lessig, Lutz Roewer, Rafal Ploski, Tadeusz Dobosz, Lotte Henke, Jürgen Henke, Manohar R. Furtado, Manfred Kayser, Mutability of Y-Chromosomal Microsatellites: Rates, Characteristics, Molecular Bases, and Forensic Implications, The American Journal of Human Genetics, 10.1016/j.ajhg.2010.08.006, 87, 3, (341-353), (2010).
- W. Shi, Q. Ayub, M. Vermeulen, R.-g. Shao, S. Zuniga, K. van der Gaag, P. de Knijff, M. Kayser, Y. Xue, C. Tyler-Smith, A Worldwide Survey of Human Male Demographic History Based on Y-SNP and Y-STR Data from the HGDP-CEPH Populations, Molecular Biology and Evolution, 10.1093/molbev/msp243, 27, 2, (385-393), (2009).
- Luis Alvarez, Cristina Santos, Rafael Montiel, Blazquez Caeiro, Abdellatif Baali, Jean‐Michel Dugoujon, Maria Pilar Aluja, Y‐chromosome variation in South Iberia: Insights into the North African contribution, American Journal of Human Biology, 10.1002/ajhb.20888, 21, 3, (407-409), (2009).
- Cristian Capelli, Valerio Onofri, Francesca Brisighelli, Ilaria Boschi, Francesca Scarnicci, Mara Masullo, Gianmarco Ferri, Sergio Tofanelli, Adriano Tagliabracci, Leonor Gusmao, Antonio Amorim, Francesco Gatto, Mirna Kirin, Davide Merlitti, Maria Brion, Alejandro Blanco Verea, Valentino Romano, Francesco Cali, Vincenzo Pascali, Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe, European Journal of Human Genetics, 10.1038/ejhg.2008.258, 17, 6, (848-852), (2009).
- Michael F. Hammer, Doron M. Behar, Tatiana M. Karafet, Fernando L. Mendez, Brian Hallmark, Tamar Erez, Lev A. Zhivotovsky, Saharon Rosset, Karl Skorecki, Response, Human Genetics, 10.1007/s00439-009-0747-1, 126, 5, (725-726), (2009).
- Miriam Goedbloed, Mark Vermeulen, Rixun N. Fang, Maria Lembring, Andreas Wollstein, Kaye Ballantyne, Oscar Lao, Silke Brauer, Carmen Krüger, Lutz Roewer, Rüdiger Lessig, Rafal Ploski, Tadeusz Dobosz, Lotte Henke, Jürgen Henke, Manohar R. Furtado, Manfred Kayser, Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR® Yfiler® PCR amplification kit, International Journal of Legal Medicine, 10.1007/s00414-009-0342-y, 123, 6, (471-482), (2009).
- Sun Wha Park, Choon Hong Hwang, Eun Min Cho, Ji Hwan Park, Byung Ok Choi, Ki Wha Chung, Development of a Y-STR 12-plex PCR system and haplotype analysis in a Korean population, Journal of Genetics, 10.1007/s12041-009-0053-7, 88, 3, (353-358), (2009).
- S. Tofanelli, S. Bertoncini, L. Castri, D. Luiselli, F. Calafell, G. Donati, G. Paoli, On the Origins and Admixture of Malagasy: New Evidence from High-Resolution Analyses of Paternal and Maternal Lineages, Molecular Biology and Evolution, 10.1093/molbev/msp120, 26, 9, (2109-2124), (2009).
- G. Berniell-Lee, F. Calafell, E. Bosch, E. Heyer, L. Sica, P. Mouguiama-Daouda, L. van der Veen, J.-M. Hombert, L. Quintana-Murci, D. Comas, Genetic and Demographic Implications of the Bantu Expansion: Insights from Human Paternal Lineages, Molecular Biology and Evolution, 10.1093/molbev/msp069, 26, 7, (1581-1589), (2009).
- Anke Heinrich, Thorsten Schwark, Rolf Fimmers, Nicole von Wurmb-Schwark, A special family history, Legal Medicine, 10.1016/j.legalmed.2009.01.100, 11, (S512-S514), (2009).
- Turi E. King, Mark A. Jobling, What's in a name? Y chromosomes, surnames and the genetic genealogy revolution, Trends in Genetics, 10.1016/j.tig.2009.06.003, 25, 8, (351-360), (2009).
- Jianye Ge, Bruce Budowle, Xavier G. Aranda, John V. Planz, Arthur J. Eisenberg, Ranajit Chakraborty, Mutation rates at Y chromosome short tandem repeats in Texas populations, Forensic Science International: Genetics, 10.1016/j.fsigen.2009.01.007, 3, 3, (179-184), (2009).
- T. E. King, M. A. Jobling, Founders, Drift, and Infidelity: The Relationship between Y Chromosome Diversity and Patrilineal Surnames, Molecular Biology and Evolution, 10.1093/molbev/msp022, 26, 5, (1093-1102), (2009).
- Valerio Onofri, Loredana Buscemi, Adriano Tagliabracci, Evaluating Y-chromosome STRs mutation rates: A collaborative study of the Ge.F.I.-ISFG Italian Group, Forensic Science International: Genetics Supplement Series, 10.1016/j.fsigss.2009.08.167, 2, 1, (419-420), (2009).
- C. Vieira-Silva, P. Dario, T. Ribeiro, I. Lucas, H. Geada, R. Espinheira, Y-STR mutational rates determination in South Portugal Caucasian population, Forensic Science International: Genetics Supplement Series, 10.1016/j.fsigss.2009.08.159, 2, 1, (60-61), (2009).
- Andrea Novelletto, Y chromosome variation in Europe: Continental and local processes in the formation of the extant gene pool, Annals of Human Biology, 10.1080/03014460701206843, 34, 2, (139-172), (2009).
- Patricia Balaresque, Emma J. Parkin, Lutz Roewer, Denise R. Carvalho-Silva, R. John Mitchell, Roland A. H. van Oorschot, Jürgen Henke, Mark Stoneking, Ivan Nasidze, Jon Wetton, Peter de Knijff, Chris Tyler-Smith, Mark A. Jobling, Genomic complexity of the Y-STR DYS19: inversions, deletions and founder lineages carrying duplications, International Journal of Legal Medicine, 10.1007/s00414-008-0253-3, 123, 1, (15-23), (2008).
- Cornelia Di Gaetano, Nicoletta Cerutti, Francesca Crobu, Carlo Robino, Serena Inturri, Sarah Gino, Simonetta Guarrera, Peter A Underhill, Roy J King, Valentino Romano, Francesco Cali, Mauro Gasparini, Giuseppe Matullo, Alfredo Salerno, Carlo Torre, Alberto Piazza, Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome, European Journal of Human Genetics, 10.1038/ejhg.2008.120, 17, 1, (91-99), (2008).
- Patricia Balaresque, Georgina R. Bowden, Emma J. Parkin, Ghada A. Omran, Evelyne Heyer, Lluis Quintana‐Murci, Lutz Roewer, Mark Stoneking, Ivan Nasidze, Denise R. Carvalho‐Silva, Chris Tyler‐Smith, Peter de Knijff, Mark A. Jobling, Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis, Human Mutation, 10.1002/humu.20757, 29, 10, (1171-1180), (2008).
- Amanda L. Seyfert, Melania E. A. Cristescu, Linda Frisse, Sarah Schaack, W. Kelley Thomas, Michael Lynch, The Rate and Spectrum of Microsatellite Mutation in Caenorhabditis elegans and Daphnia pulex , Genetics, 10.1534/genetics.107.081927, 178, 4, (2113-2121), (2008).
- Paula Sánchez-Diz, Cíntia Alves, Elizeu Carvalho, Mónica Carvalho, Rosa Espinheira, Oscar García, Mª Fátima Pinheiro, Lurdes Pontes, Mª João Porto, Oscar Santapa, Cláudia Silva, Denilce Sumita, Sérgio Valente, Martin Whittle, Iñaki Yurrebaso, Angel Carracedo, António Amorim, Leonor Gusmão, Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study, International Journal of Legal Medicine, 10.1007/s00414-008-0265-z, 122, 6, (529-533), (2008).
- Amy E. Decker, Margaret C. Kline, Janette W. Redman, Thomas M. Reid, John M. Butler, Analysis of mutations in father–son pairs with 17 Y-STR loci, Forensic Science International: Genetics, 10.1016/j.fsigen.2007.08.016, 2, 3, (e31-e35), (2008).
- Ulises Toscanini, Leonor Gusmão, Gabriela Berardi, António Amorim, Ángel Carracedo, Antonio Salas, Eduardo Raimondi, Y chromosome microsatellite genetic variation in two Native American populations from Argentina: Population stratification and mutation data, Forensic Science International: Genetics, 10.1016/j.fsigen.2008.03.001, 2, 4, (274-280), (2008).
- Leonor Gusmão, María Brión, Iva Gomes, Chapter 30 The human Y chromosome male-specific polymorphisms and forensic genetics, Forensic Science, 10.1016/S1567-7192(06)06034-7, (969-1000), (2008).
- J. S. Lansing, J. C. Watkins, B. Hallmark, M. P. Cox, T. M. Karafet, H. Sudoyo, M. F. Hammer, Male dominance rarely skews the frequency distribution of Y chromosome haplotypes in human populations, Proceedings of the National Academy of Sciences, 10.1073/pnas.0710158105, 105, 33, (11645-11650), (2008).
- A. T. Fernandes, A. Rosa, R. Gonçalves, J. Jesus, A. Brehm, The Y‐chromosome short tandem repeats variation within haplogroup E3b: Evidence of recurrent mutation in SNP, American Journal of Human Biology, 10.1002/ajhb.20693, 20, 2, (185-190), (2007).
- Toni I. Pollin, Daniel J. McBride, Richa Agarwala, Alejandro A. Schäffer, Alan R. Shuldiner, Braxton D. Mitchell, Jeffrey R. O’Connell, Investigations of the Y Chromosome, Male Founder Structure and YSTR Mutation Rates in the Old Order Amish, Human Heredity, 10.1159/000108941, 65, 2, (91-104), (2007).
- Imen Ayadi, Nadia Mahfoudh‐Lahiani, Hafedh Makni, Leila Ammar‐Keskes, Ahmed Rebaï, Combining Autosomal and Y‐Chromosomal Short Tandem Repeat Data in Paternity Testing with Male Child: Methods and Application*, Journal of Forensic Sciences, 10.1111/j.1556-4029.2007.00513.x, 52, 5, (1068-1072), (2007).
- José Arnaldo Soares‐Vieira, Ana Elisa Correia Billerbeck, Edna Sadayo Miazato Iwamura, Ricardo Andrade Zampieri, Gilka Jorge Fígaro Gattás, Daniel Romero Munoz, Jorge Hallak, Berenice Bilharinho Mendonca, Antonio Marmo Lucon, Y‐STRs in Forensic Medicine: DNA Analysis in Semen Samples of Azoospermic Individuals, Journal of Forensic Sciences, 10.1111/j.1556-4029.2007.00433.x, 52, 3, (664-670), (2007).
- Hsueng‐Mei Liu, Pei‐Shan Chen, Ying‐Ju Chen, Jau‐Yi Lyou, Hui‐Yu Hu, Jeong‐Shi Lin, Cheng‐Hwai Tzeng, Y‐chromosome short tandem repeats analysis to complement paternal lineage study: a single institutional experience in Taiwan, Transfusion, 10.1111/j.1537-2995.2007.01210.x, 47, 5, (918-926), (2007).
- Turi E King, Emma J Parkin, Geoff Swinfield, Fulvio Cruciani, Rosaria Scozzari, Alexandra Rosa, Si-Keun Lim, Yali Xue, Chris Tyler-Smith, Mark A Jobling, Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy, European Journal of Human Genetics, 10.1038/sj.ejhg.5201771, 15, 3, (288-293), (2007).
- Manfred Kayser, Mark Vermeulen, Hans Knoblauch, Herbert Schuster, Michael Krawczak, Lutz Roewer, Relating two deep-rooted pedigrees from Central Germany by high-resolution Y-STR haplotyping, Forensic Science International: Genetics, 10.1016/j.fsigen.2007.02.004, 1, 2, (125-128), (2007).
- Melinda Nagy, Lotte Henke, Jürgen Henke, Prasanta K. Chatthopadhyay, Antónia Völgyi, Andrea Zalán, Orsolya Peterman, Jarmila Bernasovská, Horolma Pamjav, Searching for the origin of Romanies: Slovakian Romani, Jats of Haryana and Jat Sikhs Y-STR data in comparison with different Romani populations, Forensic Science International, 10.1016/j.forsciint.2006.07.020, 169, 1, (19-26), (2007).
- Patricia Mariana Domingues, Leonor Gusmão, Dayse Aparecida da Silva, António Amorim, Rinaldo W. Pereira, Elizeu F. de Carvalho, Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci, International Journal of Legal Medicine, 10.1007/s00414-007-0154-x, 121, 3, (238-241), (2007).
