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171 results on '"Tyler Smith"'

1. Evaluación a la apertura de licencia de venta de alcohol en Tyler, Smith, Texas. Un análisis sobre accidentes automovilísticos fatales

Author: Dávila Treviño, Jorge Alberto and Dávila Treviño, Jorge Alberto
Published: 2023

2. Head quarters Gen. enrolling office, East'n Dist. of Texas : Tyler, Smith Co., Jany 3d 1863.

Author: Martin, D. B., Confederate States of America. Army. Eastern District of Texas. Conscript Service., Martin, D. B., and Confederate States of America. Army. Eastern District of Texas. Conscript Service.
Abstract: Printed area measures 11.2 x 10.2 cm. Signed at end: D.B. Martin, gen. E.O.E.D.T., Head Quarters Gen. Enrolling Office, rual service— such as are sworn into service. Leave under heading to whom assigned for duty ” blank : give a full discription o f all enrolled, and show in your ►Semi-Monthly reports what disposition has been made o f them. And promptly every two weeks forward to this office Semi-Monthly reports. Keep separate lists o f all applying for exemptions or certificates of disability, and forward with your reports copies of such lists. Send 110 conscripts to this office, without a written showing. No notice will be taken of any conscripts not rcfered by you. Upon all communications upon business connected with the; service, endorse on the envelope “ Oftirial Business.” Enrolling Officers will be held strictly accountable for their official conduct. All possible dispatch in enrolling and forwarding to this office is required. S ir.— You will enter no name 011 your rolls save those for ac- Yours, D. B. Martin Gen. E. 0*E. T. Enrolling Officer, County, Purchase; Parkman Fund; Apr. 14, 1947.

3. Ghost admixture in eastern gorillas

Author: Pawar, Harvinder, Rymbekova, Aigerim, Cuadros-Espinoza, Sebastian, Huang, Xin, de Manuel, Marc, van der Valk, Tom, Lobon, Irene, Alvarez-Estape, Marina, Haber, Marc, Dolgova, Olga, Han, Sojung, Esteller-Cucala, Paula, Juan, David, Ayub, Qasim, Bautista, Ruben, Kelley, Joanna L., Cornejo, Omar. E., Lao, Oscar, Andres, Aida. M., Guschanski, Katerina, Ssebide, Benard, Cranfield, Mike, Tyler-Smith, Chris, Xue, Yali, Prado-Martinez, Javier, Marques-Bonet, Tomas, Kuhlwilm, Martin, Pawar, Harvinder, Rymbekova, Aigerim, Cuadros-Espinoza, Sebastian, Huang, Xin, de Manuel, Marc, van der Valk, Tom, Lobon, Irene, Alvarez-Estape, Marina, Haber, Marc, Dolgova, Olga, Han, Sojung, Esteller-Cucala, Paula, Juan, David, Ayub, Qasim, Bautista, Ruben, Kelley, Joanna L., Cornejo, Omar. E., Lao, Oscar, Andres, Aida. M., Guschanski, Katerina, Ssebide, Benard, Cranfield, Mike, Tyler-Smith, Chris, Xue, Yali, Prado-Martinez, Javier, Marques-Bonet, Tomas, and Kuhlwilm, Martin
Abstract: Archaic admixture has had a significant impact on human evolution with multiple events across different clades, including from extinct hominins such as Neanderthals and Denisovans into modern humans. Within the great apes archaic admixture has been identified in chimpanzees and bonobos, but the possibility of such events has not been explored in other species. Here, we address this question using high-coverage whole genome sequences from all four extant gorilla subspecies, including six newly sequenced eastern gorillas from previously unsampled geographic regions. Using Approximate Bayesian Computation (ABC) with neural networks to model the demographic history of gorillas, we find a signature of admixture from an archaic 'ghost' lineage into the common ancestor of eastern gorillas, but not western gorillas. We infer that up to 3% of the genome of these individuals is introgressed from an archaic lineage that diverged more than 3 million years ago from the common ancestor of all extant gorillas. This introgression event took place before the split of mountain and eastern lowland gorillas, likely more than 40 thousand years ago, and may have influenced perception of bitter taste in eastern gorillas. When comparing the introgression landscapes of gorillas, humans and bonobos, we find a consistent depletion of introgressed fragments on the X chromosome across these species. However, depletion in protein-coding content is not detectable in eastern gorillas, possibly as a consequence of stronger genetic drift in this species.
Published: 2023
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4. The genome sequence of the brown scallop, Philereme vetulata (Denis and Schiffermüller, 1775)

Author: Boyes, Douglas, Tyler-Smith, Chris, Boyes, Douglas, and Tyler-Smith, Chris
Abstract: We present a genome assembly from an individual female Philereme vetulata (the Brown Scallop; Arthropoda; Insecta; Lepidoptera; Geometridae). The genome sequence is 771 megabases in span. Most of the assembly is scaffolded into 68 chromosomal pseudomolecules, including the assembled Z sex chromosome. The mitochondrial genome has also been assembled and is 16.3 kilobases in length. Gene annotation of this assembly on Ensembl has identified 18,096 protein coding genes.
Published: 2023

5. Ghost admixture in eastern gorillas

Author: Vienna Science and Technology Fund, European Research Council, European Commission, Agencia Estatal de Investigación (España), Ministerio de Ciencia e Innovación (España), Generalitat de Catalunya, Ministerio de Ciencia, Innovación y Universidades (España), Wellcome, Swedish Research Council, John Templeton Foundation, Wellcome Trust, Monash University, Manuel, Marc de [0000-0002-1245-0127], Lobón, Irene [0000-0003-1170-9915], Alvarez-Estape, Marina [0000-0001-8242-1092], Han, Sojung [0000-0002-6113-1042], Juan, David [0000-0003-1912-9667], Lao, Oscar [0000-0002-8525-9649], Prado-Martinez, Javier [0000-0001-5402-2721], Marqués-Bonet, Tomàs [0000-0002-5597-3075], Kuhlwilm, Martin [0000-0002-0115-1797], Pawar, Harvinder, Rymbekova, Aigerim, Cuadros-Espinoza, Sebastian, Huang, Xin, Manuel, Marc de, van der Valk, Tom, Lobón, Irene, Alvarez-Estape, Marina, Haber, Marc, Dolgova, Olga, Han, Sojung, Esteller-Cucala, Paula, Juan, David, Ayub, Qasim, Bautista, Ruben, Kelley, Joanna L., Cornejo, Omar E., Lao, Oscar, Andrés, Aida M., Guschanski, Katerina, Ssebide, Benard, Cranfield, Mike, Tyler-Smith, Chris, Xue, Yali, Prado-Martinez, Javier, Marqués-Bonet, Tomàs, Kuhlwilm, Martin, Vienna Science and Technology Fund, European Research Council, European Commission, Agencia Estatal de Investigación (España), Ministerio de Ciencia e Innovación (España), Generalitat de Catalunya, Ministerio de Ciencia, Innovación y Universidades (España), Wellcome, Swedish Research Council, John Templeton Foundation, Wellcome Trust, Monash University, Manuel, Marc de [0000-0002-1245-0127], Lobón, Irene [0000-0003-1170-9915], Alvarez-Estape, Marina [0000-0001-8242-1092], Han, Sojung [0000-0002-6113-1042], Juan, David [0000-0003-1912-9667], Lao, Oscar [0000-0002-8525-9649], Prado-Martinez, Javier [0000-0001-5402-2721], Marqués-Bonet, Tomàs [0000-0002-5597-3075], Kuhlwilm, Martin [0000-0002-0115-1797], Pawar, Harvinder, Rymbekova, Aigerim, Cuadros-Espinoza, Sebastian, Huang, Xin, Manuel, Marc de, van der Valk, Tom, Lobón, Irene, Alvarez-Estape, Marina, Haber, Marc, Dolgova, Olga, Han, Sojung, Esteller-Cucala, Paula, Juan, David, Ayub, Qasim, Bautista, Ruben, Kelley, Joanna L., Cornejo, Omar E., Lao, Oscar, Andrés, Aida M., Guschanski, Katerina, Ssebide, Benard, Cranfield, Mike, Tyler-Smith, Chris, Xue, Yali, Prado-Martinez, Javier, Marqués-Bonet, Tomàs, and Kuhlwilm, Martin
Abstract: Archaic admixture has had a substantial impact on human evolution with multiple events across different clades, including from extinct hominins such as Neanderthals and Denisovans into modern humans. In great apes, archaic admixture has been identified in chimpanzees and bonobos but the possibility of such events has not been explored in other species. Here, we address this question using high-coverage whole-genome sequences from all four extant gorilla subspecies, including six newly sequenced eastern gorillas from previously unsampled geographic regions. Using approximate Bayesian computation with neural networks to model the demographic history of gorillas, we find a signature of admixture from an archaic ‘ghost’ lineage into the common ancestor of eastern gorillas but not western gorillas. We infer that up to 3% of the genome of these individuals is introgressed from an archaic lineage that diverged more than 3 million years ago from the common ancestor of all extant gorillas. This introgression event took place before the split of mountain and eastern lowland gorillas, probably more than 40 thousand years ago and may have influenced perception of bitter taste in eastern gorillas. When comparing the introgression landscapes of gorillas, humans and bonobos, we find a consistent depletion of introgressed fragments on the X chromosome across these species. However, depletion in protein-coding content is not detectable in eastern gorillas, possibly as a consequence of stronger genetic drift in this species.
Published: 2023

6. Changes in genome structure and gene expression in methotrexate-resistant mouse cells

Author: Tyler-Smith, Chris
Subjects: 572.8, Genetics
Published: 1981

7. Positive selection in admixed populations from Ethiopia

Author: Ministerio de Economía y Competitividad (España), European Commission, Generalitat de Catalunya, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Wellcome Trust, Walsh, Sandra, Pagani, Luca, Xue, Yali, Laayouni, Hafid, Tyler-Smith, Chris, Bertranpetit, Jaume, Ministerio de Economía y Competitividad (España), European Commission, Generalitat de Catalunya, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Wellcome Trust, Walsh, Sandra, Pagani, Luca, Xue, Yali, Laayouni, Hafid, Tyler-Smith, Chris, and Bertranpetit, Jaume
Abstract: Background: In the process of adaptation of humans to their environment, positive or adaptive selection has played a main role. Positive selection has, however, been under-studied in African populations, despite their diversity and importance for understanding human history. Results: Here, we have used 119 available whole-genome sequences from five Ethiopian populations (Amhara, Oromo, Somali, Wolayta and Gumuz) to investigate the modes and targets of positive selection in this part of the world. The site frequency spectrum-based test SFselect was applied to idfentify a wide range of events of selection (old and recent), and the haplotype-based statistic integrated haplotype score to detect more recent events, in each case with evaluation of the significance of candidate signals by extensive simulations. Additional insights were provided by considering admixture proportions and functional categories of genes. We identified both individual loci that are likely targets of classic sweeps and groups of genes that may have experienced polygenic adaptation. We found population-specific as well as shared signals of selection, with folate metabolism and the related ultraviolet response and skin pigmentation standing out as a shared pathway, perhaps as a response to the high levels of ultraviolet irradiation, and in addition strong signals in genes such as IFNA, MRC1, immunoglobulins and T-cell receptors which contribute to defend against pathogens. Conclusions: Signals of positive selection were detected in Ethiopian populations revealing novel adaptations in East Africa, and abundant targets for functional follow-up.
Published: 2020

8. Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

Author: Broad Institute of MIT and Harvard, Khurana, Ekta, Fu, Yao, Colonna, Vincenza, Mu, Xinmeng Jasmine, Kang, Hyun Min, Lappalainen, Tuuli, Sboner, Andrea, Lochovsky, Lucas, Chen, Jieming, Harmanci, Arif, Das, Jishnu, Abyzov, Alexej, Balasubramanian, Suganthi, Beal, Kathryn, Chakravarty, Dimple, Challis, Daniel, Chen, Yuan, Clarke, Declan, Clarke, Laura, Cunningham, Fiona, Evani, Uday S., Flicek, Paul, Fragoza, Robert, Garrison, Erik, Gibbs, Richard, Gümüş, Zeynep H., Herrero, Javier, Kitabayashi, Naoki, Kong, Yong, Lage, Kasper, Liluashvili, Vaja, Lipkin, Steven M., MacArthur, Daniel G., Marth, Gabor, Muzny, Donna, Pers, Tune H., Ritchie, Graham R. S., Rosenfeld, Jeffrey A., Sisu, Cristina, Wei, Xiaomu, Wilson, Michael, Xue, Yali, Yu, Fuli, Dermitzakis, Emmanouil T., Yu, Haiyuan, Rubin, Mark A., Tyler-Smith, Chris, Gerstein, Mark, Broad Institute of MIT and Harvard, Khurana, Ekta, Fu, Yao, Colonna, Vincenza, Mu, Xinmeng Jasmine, Kang, Hyun Min, Lappalainen, Tuuli, Sboner, Andrea, Lochovsky, Lucas, Chen, Jieming, Harmanci, Arif, Das, Jishnu, Abyzov, Alexej, Balasubramanian, Suganthi, Beal, Kathryn, Chakravarty, Dimple, Challis, Daniel, Chen, Yuan, Clarke, Declan, Clarke, Laura, Cunningham, Fiona, Evani, Uday S., Flicek, Paul, Fragoza, Robert, Garrison, Erik, Gibbs, Richard, Gümüş, Zeynep H., Herrero, Javier, Kitabayashi, Naoki, Kong, Yong, Lage, Kasper, Liluashvili, Vaja, Lipkin, Steven M., MacArthur, Daniel G., Marth, Gabor, Muzny, Donna, Pers, Tune H., Ritchie, Graham R. S., Rosenfeld, Jeffrey A., Sisu, Cristina, Wei, Xiaomu, Wilson, Michael, Xue, Yali, Yu, Fuli, Dermitzakis, Emmanouil T., Yu, Haiyuan, Rubin, Mark A., Tyler-Smith, Chris, and Gerstein, Mark
Abstract: Interpreting variants, especially noncoding ones, in the increasing number of personal genomes is challenging. We used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then we experimentally validated candidates. We analyzed both coding and noncoding regions, with the former corroborating the latter. We found regions particularly sensitive to mutations ("ultrasensitive") and variants that are disruptive because of mechanistic effects on transcription-factor binding (that is, " motif-breakers"). We also found variants in regions with higher network centrality tend to be deleterious. Insertions and deletions followed a similar pattern to single-nucleotide variants, with some notable exceptions (e.g., certain deletions and enhancers). On the basis of these patterns, we developed a computational tool (FunSeq), whose application to ∼90 cancer genomes reveals nearly a hundred candidate noncoding drivers.
Published: 2020

9. Aboriginal Australian mitochondrial genome variation - an increased understanding of population antiquity and diversity

Author: Nagle, N, Oven, Mannis, Wilcox, S, Pellekaan, SV, Tyler-Smith, C, Xue, YL, Ballantyne, Kaye, Wilcox, L, Papac, L, Cooke, K, van Oorschot, RAH, McAllister, P, Williams, L, Kayser, Manfred, Mitchell, RJ, Nagle, N, Oven, Mannis, Wilcox, S, Pellekaan, SV, Tyler-Smith, C, Xue, YL, Ballantyne, Kaye, Wilcox, L, Papac, L, Cooke, K, van Oorschot, RAH, McAllister, P, Williams, L, Kayser, Manfred, and Mitchell, RJ
Published: 2017

10. Genomic analyses inform on migration events during the peopling of Eurasia

Author: Pagani, Luca, Lawson, Daniel John, Jagoda, Evelyn, Moerseburg, Alexander, Eriksson, Anders, Mitt, Mario, Clemente, Florian, Hudjashov, Georgi, DeGiorgio, Michael, Saag, Lauri, Wall, Jeffrey D., Cardona, Alexia, Maegi, Reedik, Sayres, Melissa A. Wilson, Kaewert, Sarah, Inchley, Charlotte, Scheib, Christiana L., Jaerve, Mari, Karmin, Monika, Jacobs, Guy S., Antao, Tiago, Iliescu, Florin Mircea, Kushniarevich, Alena, Ayub, Qasim, Tyler-Smith, Chris, Xue, Yali, Yunusbayev, Bayazit, Tambets, Kristiina, Mallick, Chandana Basu, Saag, Lehti, Pocheshkhova, Elvira, Andriadze, George, Muller, Craig Edwin, Westaway, Michael C., Lambert, David M., Zoraqi, Grigor, Turdikulova, Shahlo, Dalimova, Dilbar, Sabitov, Zhaxylyk, Sultana, Gazi Nurun Nahar, Lachance, Joseph, Tishkoff, Sarah, Momynaliev, Kuvat, Isakova, Jainagul, Damba, Larisa D., Gubina, Marina, Nymadawa, Pagbajabyn, Evseeva, Irina, Atramentova, Lubov, Utevska, Olga, Ricaut, Francois-Xavier, Brucato, Nicolas, Sudoyo, Herawati, Letellier, Thierry, Cox, Murray P., Barashkov, Nikolay A., Škaro, Vedrana, Mulahasanovic, Lejla, Primorac, Dragan, Sahakyan, Hovhannes, Mormina, Maru, Eichstaedt, Christina A., Lichman, Daria V., Abdullah, Syafiq, Chaubey, Gyaneshwer, Wee, Joseph T. S., Mihailov, Evelin, Karunas, Alexandra, Litvinov, Sergei, Khusainova, Rita, Ekomasova, Natalya, Akhmetova, Vita, Khidiyatova, Irina, Marjanovi, Damir, Yepiskoposyan, Levon, Behar, Doron M., Balanovska, Elena, Metspalu, Andres, Derenko, Miroslava, Malyarchuk, Boris, Voevoda, Mikhail, Fedorova, Sardana A., Osipova, Ludmila P., Mirazon, Marta, Gerbault, Pascale, Leavesley, Matthew, Migliano, Andrea Bamberg, Petraglia, Michael, Balanovsky, Oleg, Khusnutdinova, Elza K., Metspalu, Ene, Thomas, Mark G., Manica, Andrea, Nielsen, Rasmus, Villems, Richard, Willerslev, Eske, Kivisild, Toomas, Metspalu, Mait, Pagani, Luca, Lawson, Daniel John, Jagoda, Evelyn, Moerseburg, Alexander, Eriksson, Anders, Mitt, Mario, Clemente, Florian, Hudjashov, Georgi, DeGiorgio, Michael, Saag, Lauri, Wall, Jeffrey D., Cardona, Alexia, Maegi, Reedik, Sayres, Melissa A. Wilson, Kaewert, Sarah, Inchley, Charlotte, Scheib, Christiana L., Jaerve, Mari, Karmin, Monika, Jacobs, Guy S., Antao, Tiago, Iliescu, Florin Mircea, Kushniarevich, Alena, Ayub, Qasim, Tyler-Smith, Chris, Xue, Yali, Yunusbayev, Bayazit, Tambets, Kristiina, Mallick, Chandana Basu, Saag, Lehti, Pocheshkhova, Elvira, Andriadze, George, Muller, Craig Edwin, Westaway, Michael C., Lambert, David M., Zoraqi, Grigor, Turdikulova, Shahlo, Dalimova, Dilbar, Sabitov, Zhaxylyk, Sultana, Gazi Nurun Nahar, Lachance, Joseph, Tishkoff, Sarah, Momynaliev, Kuvat, Isakova, Jainagul, Damba, Larisa D., Gubina, Marina, Nymadawa, Pagbajabyn, Evseeva, Irina, Atramentova, Lubov, Utevska, Olga, Ricaut, Francois-Xavier, Brucato, Nicolas, Sudoyo, Herawati, Letellier, Thierry, Cox, Murray P., Barashkov, Nikolay A., Škaro, Vedrana, Mulahasanovic, Lejla, Primorac, Dragan, Sahakyan, Hovhannes, Mormina, Maru, Eichstaedt, Christina A., Lichman, Daria V., Abdullah, Syafiq, Chaubey, Gyaneshwer, Wee, Joseph T. S., Mihailov, Evelin, Karunas, Alexandra, Litvinov, Sergei, Khusainova, Rita, Ekomasova, Natalya, Akhmetova, Vita, Khidiyatova, Irina, Marjanovi, Damir, Yepiskoposyan, Levon, Behar, Doron M., Balanovska, Elena, Metspalu, Andres, Derenko, Miroslava, Malyarchuk, Boris, Voevoda, Mikhail, Fedorova, Sardana A., Osipova, Ludmila P., Mirazon, Marta, Gerbault, Pascale, Leavesley, Matthew, Migliano, Andrea Bamberg, Petraglia, Michael, Balanovsky, Oleg, Khusnutdinova, Elza K., Metspalu, Ene, Thomas, Mark G., Manica, Andrea, Nielsen, Rasmus, Villems, Richard, Willerslev, Eske, Kivisild, Toomas, and Metspalu, Mait
Published: 2016

11. Chimpanzee genomic diversity reveals ancient admixture with bonobos

Author: de Manuel, Marc, Kuhlwilm, Martin, Frandsen, Peter, Sousa, Vitor C., Desai, Tariq, Prado-Martinez, Javier, Hernandez-Rodriguez, Jessica, Dupanloup, Isabelle, Lao, Oscar, Hallast, Pille, Schmidt, Joshua M., Heredia-Genestar, José María, Benazzo, Andrea, Barbujani, Guido, Peter, Benjamin M., Kuderna, Lukas F. K., Casals, Ferran, Angedakin, Samuel, Arandjelovic, Mimi, Boesch, Christophe, Kühl, Hjalmar, Vigilant, Linda, Langergraber, Kevin, Novembre, John, Gut, Marta, Gut, Ivo, Navarro, Arcadi, Carlsen, Frands, Andrés, Aida M., Siegismund, Hans Redlef, Scally, Aylwyn, Excoffier, Laurent, Tyler-Smith, Chris, Castellano, Sergi, Xue, Yali, Hvilsom, Christina, Marques-Bonet, Tomas, de Manuel, Marc, Kuhlwilm, Martin, Frandsen, Peter, Sousa, Vitor C., Desai, Tariq, Prado-Martinez, Javier, Hernandez-Rodriguez, Jessica, Dupanloup, Isabelle, Lao, Oscar, Hallast, Pille, Schmidt, Joshua M., Heredia-Genestar, José María, Benazzo, Andrea, Barbujani, Guido, Peter, Benjamin M., Kuderna, Lukas F. K., Casals, Ferran, Angedakin, Samuel, Arandjelovic, Mimi, Boesch, Christophe, Kühl, Hjalmar, Vigilant, Linda, Langergraber, Kevin, Novembre, John, Gut, Marta, Gut, Ivo, Navarro, Arcadi, Carlsen, Frands, Andrés, Aida M., Siegismund, Hans Redlef, Scally, Aylwyn, Excoffier, Laurent, Tyler-Smith, Chris, Castellano, Sergi, Xue, Yali, Hvilsom, Christina, and Marques-Bonet, Tomas
Abstract: Our closest living relatives, chimpanzees and bonobos, have a complex demographic history. We analyzed the high-coverage whole genomes of 75 wild-born chimpanzees and bonobos from 10 countries in Africa. We found that chimpanzee population substructure makes genetic information a good predictor of geographic origin at country and regional scales. Multiple lines of evidence suggest that gene flow occurred from bonobos into the ancestors of central and eastern chimpanzees between 200,000 and 550,000 years ago, probably with subsequent spread into Nigeria-Cameroon chimpanzees. Together with another, possibly more recent contact (after 200,000 years ago), bonobos contributed less than 1% to the central chimpanzee genomes. Admixture thus appears to have been widespread during hominid evolution.
Published: 2016

12. A genomic history of aboriginal Australia

Author: Malaspinas, Anna Sapfo, Westaway, Michael C., Muller, Craig Edwin, Sousa, Vitor C., Lao, Oscar, Alves, Isabel, Bergström, Anders, Athanasiadis, Georgios, Cheng, Jade Yu, Crawford, Jacob E., Heupink, Tim H., Macholdt, Enrico, Peischl, Stephan, Rasmussen, Simon, Schiffels, Stephan, Subramanian, Sankar, Wright, Joanne L, Albrechtsen, Anders, Barbieri, Chiara, Dupanloup, Isabelle, Eriksson, Anders, Margaryan, Ashot, Moltke, Ida, Pugach, Irina, Korneliussen, Thorfinn Sand, Levkivskyi, Ivan P., Moreno Mayar, José Victor, Ni, Shengyu, Racimo, Fernando, Sikora, Martin, Xue, Yali, Aghakhanian, Farhang A., Brucato, Nicolas, Brunak, Søren, Campos, Paula, Clark, Warren, Ellingvåg, Sturla, Fourmile, Gudjugudju, Gerbault, Pascale, Injie, Darren, Koki, George, Leavesley, Matthew, Logan, Betty, Lynch, Aubrey, Matisoo-Smith, Elizabeth A., McAllister, Peter J., Mentzer, Alexander J., Metspalu, Mait, Migliano, Andrea B, Murgha, Les, Phipps, Maude E, Pomat, William, Reynolds, Doc, Ricaut, Francois-Xavier, Siba, Peter, Thomas, Mark G., Wales, Thomas, Wall, Colleen Ma'run, Oppenheimer, Stephen J, Tyler-Smith, Chris, Durbin, Richard, Dortch, Joe, Manica, Andrea, Schierup, Mikkel H., Foley, Robert A., Lahr, Marta Mirazón, Bowern, Claire, Wall, Jeffrey D., Mailund, Thomas, Stoneking, Mark, Nielsen, Rasmus, Sandhu, Manjinder S., Excoffier, Laurent, Lambert, David M., Willerslev, Eske, Malaspinas, Anna Sapfo, Westaway, Michael C., Muller, Craig Edwin, Sousa, Vitor C., Lao, Oscar, Alves, Isabel, Bergström, Anders, Athanasiadis, Georgios, Cheng, Jade Yu, Crawford, Jacob E., Heupink, Tim H., Macholdt, Enrico, Peischl, Stephan, Rasmussen, Simon, Schiffels, Stephan, Subramanian, Sankar, Wright, Joanne L, Albrechtsen, Anders, Barbieri, Chiara, Dupanloup, Isabelle, Eriksson, Anders, Margaryan, Ashot, Moltke, Ida, Pugach, Irina, Korneliussen, Thorfinn Sand, Levkivskyi, Ivan P., Moreno Mayar, José Victor, Ni, Shengyu, Racimo, Fernando, Sikora, Martin, Xue, Yali, Aghakhanian, Farhang A., Brucato, Nicolas, Brunak, Søren, Campos, Paula, Clark, Warren, Ellingvåg, Sturla, Fourmile, Gudjugudju, Gerbault, Pascale, Injie, Darren, Koki, George, Leavesley, Matthew, Logan, Betty, Lynch, Aubrey, Matisoo-Smith, Elizabeth A., McAllister, Peter J., Mentzer, Alexander J., Metspalu, Mait, Migliano, Andrea B, Murgha, Les, Phipps, Maude E, Pomat, William, Reynolds, Doc, Ricaut, Francois-Xavier, Siba, Peter, Thomas, Mark G., Wales, Thomas, Wall, Colleen Ma'run, Oppenheimer, Stephen J, Tyler-Smith, Chris, Durbin, Richard, Dortch, Joe, Manica, Andrea, Schierup, Mikkel H., Foley, Robert A., Lahr, Marta Mirazón, Bowern, Claire, Wall, Jeffrey D., Mailund, Thomas, Stoneking, Mark, Nielsen, Rasmus, Sandhu, Manjinder S., Excoffier, Laurent, Lambert, David M., and Willerslev, Eske
Abstract: The population history of Aboriginal Australians remains largely uncharacterized. Here we generate high-coverage genomes for 83 Aboriginal Australians (speakers of Pama-Nyungan languages) and 25 Papuans from the New Guinea Highlands. We find that Papuan and Aboriginal Australian ancestors diversified 25-40 thousand years ago (kya), suggesting pre-Holocene population structure in the ancient continent of Sahul (Australia, New Guinea and Tasmania). However, all of the studied Aboriginal Australians descend from a single founding population that differentiated ~10-32 kya. We infer a population expansion in northeast Australia during the Holocene epoch (past 10,000 years) associated with limited gene flow from this region to the rest of Australia, consistent with the spread of the Pama-Nyungan languages. We estimate that Aboriginal Australians and Papuans diverged from Eurasians 51-72 kya, following a single out-of-Africa dispersal, and subsequently admixed with archaic populations. Finally, we report evidence of selection in Aboriginal Australians potentially associated with living in the desert.
Published: 2016

13. Genomic evidence for the Pleistocene and recent population history of Native Americans

Author: Raghavan, Maanasa, Steinrücken, Matthias, Harris, Kelley, Schiffels, Stephan, Rasmussen, Simon, DeGiorgio, Michael, Albrechtsen, Anders, Valdiosera Morales, Cristina E., Avila Arcos, Maria del Carmen, Malaspinas, Anna Sapfo, Eriksson, Anders, Moltke, Ida, Metspalu, Mait, Homburger, Julian R, Wall, Jeff, Cornejo, Omar E, Moreno Mayar, José Victor, Korneliussen, Thorfinn Sand, Pierre, Tracey Lynn, Rasmussen, Morten, Campos, Paula, Damgaard, Peter de Barros, Allentoft, Morten Erik, Lindo, John, Metspalu, Ene, Rodríguez-Varela, Ricardo, Mansilla, Josefina, Henrickson, Celeste, Seguin-Orlando, Andaine, Malmström, Helena, Stafford jr., Thomas, Shringarpure, Suyash S, Moreno-Estrada, Andrés, Karmin, Monika, Tambets, Kristiina, Bergström, Anders, Xue, Yali, Warmuth, Vera, Friend, Andrew D, Singarayer, Joy, Valdes, Paul, Balloux, Francois, Leboreiro, Ilán, Vera, Jose Luis, Rangel-Villalobos, Hector, Pettener, Davide, Luiselli, Donata, Davis, Loren G, Heyer, Evelyne, Zollikofer, Christoph P E, Ponce de León, Marcia S, Smith, Colin I, Grimes, Vaughan, Pike, Kelly-Anne, Deal, Michael, Fuller, Benjamin T, Arriaza, Bernardo, Standen, Vivien, Luz, Maria F, Ricaut, Francois, Guidon, Niede, Osipova, Ludmila, Voevoda, Mikhail I, Posukh, Olga L, Balanovsky, Oleg, Lavryashina, Maria, Bogunov, Yuri, Khusnutdinova, Elza, Gubina, Marina, Balanovska, Elena, Fedorova, Sardana, Litvinov, Sergey, Malyarchuk, Boris, Derenko, Miroslava, Mosher, M J, Archer, David, Cybulski, Jerome, Petzelt, Barbara, Mitchell, Joycelynn, Worl, Rosita, Norman, Paul J, Parham, Peter, Kemp, Brian M, Kivisild, Toomas, Tyler-Smith, Chris, Sandhu, Manjinder S, Crawford, Michael, Villems, Richard, Smith, David Glenn, Waters, Michael R, Goebel, Ted, Johnson, John R, Malhi, Ripan S, Jakobsson, Mattias, Meltzer, David J., Manica, Andrea, Durbin, Richard, Bustamante, Carlos D, Song, Yun S, Nielsen, Rasmus, Willerslev, Eske, Raghavan, Maanasa, Steinrücken, Matthias, Harris, Kelley, Schiffels, Stephan, Rasmussen, Simon, DeGiorgio, Michael, Albrechtsen, Anders, Valdiosera Morales, Cristina E., Avila Arcos, Maria del Carmen, Malaspinas, Anna Sapfo, Eriksson, Anders, Moltke, Ida, Metspalu, Mait, Homburger, Julian R, Wall, Jeff, Cornejo, Omar E, Moreno Mayar, José Victor, Korneliussen, Thorfinn Sand, Pierre, Tracey Lynn, Rasmussen, Morten, Campos, Paula, Damgaard, Peter de Barros, Allentoft, Morten Erik, Lindo, John, Metspalu, Ene, Rodríguez-Varela, Ricardo, Mansilla, Josefina, Henrickson, Celeste, Seguin-Orlando, Andaine, Malmström, Helena, Stafford jr., Thomas, Shringarpure, Suyash S, Moreno-Estrada, Andrés, Karmin, Monika, Tambets, Kristiina, Bergström, Anders, Xue, Yali, Warmuth, Vera, Friend, Andrew D, Singarayer, Joy, Valdes, Paul, Balloux, Francois, Leboreiro, Ilán, Vera, Jose Luis, Rangel-Villalobos, Hector, Pettener, Davide, Luiselli, Donata, Davis, Loren G, Heyer, Evelyne, Zollikofer, Christoph P E, Ponce de León, Marcia S, Smith, Colin I, Grimes, Vaughan, Pike, Kelly-Anne, Deal, Michael, Fuller, Benjamin T, Arriaza, Bernardo, Standen, Vivien, Luz, Maria F, Ricaut, Francois, Guidon, Niede, Osipova, Ludmila, Voevoda, Mikhail I, Posukh, Olga L, Balanovsky, Oleg, Lavryashina, Maria, Bogunov, Yuri, Khusnutdinova, Elza, Gubina, Marina, Balanovska, Elena, Fedorova, Sardana, Litvinov, Sergey, Malyarchuk, Boris, Derenko, Miroslava, Mosher, M J, Archer, David, Cybulski, Jerome, Petzelt, Barbara, Mitchell, Joycelynn, Worl, Rosita, Norman, Paul J, Parham, Peter, Kemp, Brian M, Kivisild, Toomas, Tyler-Smith, Chris, Sandhu, Manjinder S, Crawford, Michael, Villems, Richard, Smith, David Glenn, Waters, Michael R, Goebel, Ted, Johnson, John R, Malhi, Ripan S, Jakobsson, Mattias, Meltzer, David J., Manica, Andrea, Durbin, Richard, Bustamante, Carlos D, Song, Yun S, Nielsen, Rasmus, and Willerslev, Eske
Abstract: How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative "Paleoamerican" relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.
Published: 2015

14. A recent bottleneck of Y chromosome diversity coincides with a global change in culture

Author: Karmin, Monika, Saag, Lauri, Vicente, Mário, Wilson Sayres, Melissa A, Järve, Mari, Talas, Ulvi Gerst, Rootsi, Siiri, Ilumäe, Anne-Mai, Mägi, Reedik, Mitt, Mario, Pagani, Luca, Puurand, Tarmo, Faltyskova, Zuzana, Clemente, Florian, Cardona, Alexia, Metspalu, Ene, Sahakyan, Hovhannes, Yunusbayev, Bayazit, Hudjashov, Georgi, DeGiorgio, Michael, Loogväli, Eva-Liis, Eichstaedt, Christina, Eelmets, Mikk, Chaubey, Gyaneshwer, Tambets, Kristiina, Litvinov, Sergei, Mormina, Maru, Xue, Yali, Ayub, Qasim, Zoraqi, Grigor, Korneliussen, Thorfinn Sand, Akhatova, Farida, Lachance, Joseph, Tishkoff, Sarah, Momynaliev, Kuvat, Ricaut, François-Xavier, Kusuma, Pradiptajati, Razafindrazaka, Harilanto, Pierron, Denis, Cox, Murray P, Sultana, Gazi Nurun Nahar, Willerslev, Rane, Muller, Craig, Westaway, Michael, Lambert, David, Skaro, Vedrana, Kovačevic, Lejla, Turdikulova, Shahlo, Dalimova, Dilbar, Khusainova, Rita, Trofimova, Natalya, Akhmetova, Vita, Khidiyatova, Irina, Lichman, Daria V, Isakova, Jainagul, Pocheshkhova, Elvira, Sabitov, Zhaxylyk, Barashkov, Nikolay A, Nymadawa, Pagbajabyn, Mihailov, Evelin, Seng, Joseph Wee Tien, Evseeva, Irina, Migliano, Andrea Bamberg, Abdullah, Syafiq, Andriadze, George, Primorac, Dragan, Atramentova, Lubov, Utevska, Olga, Yepiskoposyan, Levon, Marjanovic, Damir, Kushniarevich, Alena, Behar, Doron M, Gilissen, Christian, Vissers, Lisenka, Veltman, Joris A, Balanovska, Elena, Derenko, Miroslava, Malyarchuk, Boris, Metspalu, Andres, Fedorova, Sardana, Eriksson, Anders, Manica, Andrea, Mendez, Fernando L, Karafet, Tatiana M, Veeramah, Krishna R, Bradman, Neil, Hammer, Michael F, Osipova, Ludmila P, Balanovsky, Oleg, Khusnutdinova, Elza K, Johnsen, Knut, Remm, Maido, Thomas, Mark G, Tyler-Smith, Chris, Underhill, Peter A, Willerslev, Eske, Nielsen, Rasmus, Metspalu, Mait, Villems, Richard, Kivisild, Toomas, Karmin, Monika, Saag, Lauri, Vicente, Mário, Wilson Sayres, Melissa A, Järve, Mari, Talas, Ulvi Gerst, Rootsi, Siiri, Ilumäe, Anne-Mai, Mägi, Reedik, Mitt, Mario, Pagani, Luca, Puurand, Tarmo, Faltyskova, Zuzana, Clemente, Florian, Cardona, Alexia, Metspalu, Ene, Sahakyan, Hovhannes, Yunusbayev, Bayazit, Hudjashov, Georgi, DeGiorgio, Michael, Loogväli, Eva-Liis, Eichstaedt, Christina, Eelmets, Mikk, Chaubey, Gyaneshwer, Tambets, Kristiina, Litvinov, Sergei, Mormina, Maru, Xue, Yali, Ayub, Qasim, Zoraqi, Grigor, Korneliussen, Thorfinn Sand, Akhatova, Farida, Lachance, Joseph, Tishkoff, Sarah, Momynaliev, Kuvat, Ricaut, François-Xavier, Kusuma, Pradiptajati, Razafindrazaka, Harilanto, Pierron, Denis, Cox, Murray P, Sultana, Gazi Nurun Nahar, Willerslev, Rane, Muller, Craig, Westaway, Michael, Lambert, David, Skaro, Vedrana, Kovačevic, Lejla, Turdikulova, Shahlo, Dalimova, Dilbar, Khusainova, Rita, Trofimova, Natalya, Akhmetova, Vita, Khidiyatova, Irina, Lichman, Daria V, Isakova, Jainagul, Pocheshkhova, Elvira, Sabitov, Zhaxylyk, Barashkov, Nikolay A, Nymadawa, Pagbajabyn, Mihailov, Evelin, Seng, Joseph Wee Tien, Evseeva, Irina, Migliano, Andrea Bamberg, Abdullah, Syafiq, Andriadze, George, Primorac, Dragan, Atramentova, Lubov, Utevska, Olga, Yepiskoposyan, Levon, Marjanovic, Damir, Kushniarevich, Alena, Behar, Doron M, Gilissen, Christian, Vissers, Lisenka, Veltman, Joris A, Balanovska, Elena, Derenko, Miroslava, Malyarchuk, Boris, Metspalu, Andres, Fedorova, Sardana, Eriksson, Anders, Manica, Andrea, Mendez, Fernando L, Karafet, Tatiana M, Veeramah, Krishna R, Bradman, Neil, Hammer, Michael F, Osipova, Ludmila P, Balanovsky, Oleg, Khusnutdinova, Elza K, Johnsen, Knut, Remm, Maido, Thomas, Mark G, Tyler-Smith, Chris, Underhill, Peter A, Willerslev, Eske, Nielsen, Rasmus, Metspalu, Mait, Villems, Richard, and Kivisild, Toomas
Abstract: It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, we date the Y-chromosomal most recent common ancestor (MRCA) in Africa at 254 (95% CI 192-307) kya and detect a cluster of major non-African founder haplogroups in a narrow time interval at 47-52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.
Published: 2015

15. Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Author: Xue, Yali, Prado-Martinez, Javier, Sudmant, Peter H, Narasimhan, Vagheesh, Ayub, Qasim, Szpak, Michal, Frandsen, Peter, Chen, Yuan, Yngvadottir, Bryndis, Cooper, David N, de Manuel, Marc, Hernandez-Rodriguez, Jessica, Lobon, Irene, Siegismund, Hans Redlef, Pagani, Luca, Quail, Michael A, Hvilsom, Christina, Mudakikwa, Antoine, Eichler, Evan E, Cranfield, Michael R, Marques-Bonet, Tomas, Tyler-Smith, Chris, Scally, Aylwyn, Xue, Yali, Prado-Martinez, Javier, Sudmant, Peter H, Narasimhan, Vagheesh, Ayub, Qasim, Szpak, Michal, Frandsen, Peter, Chen, Yuan, Yngvadottir, Bryndis, Cooper, David N, de Manuel, Marc, Hernandez-Rodriguez, Jessica, Lobon, Irene, Siegismund, Hans Redlef, Pagani, Luca, Quail, Michael A, Hvilsom, Christina, Mudakikwa, Antoine, Eichler, Evan E, Cranfield, Michael R, Marques-Bonet, Tomas, Tyler-Smith, Chris, and Scally, Aylwyn
Abstract: Mountain gorillas are an endangered great ape subspecies and a prominent focus for conservation, yet we know little about their genomic diversity and evolutionary past. We sequenced whole genomes from multiple wild individuals and compared the genomes of all four Gorilla subspecies. We found that the two eastern subspecies have experienced a prolonged population decline over the past 100,000 years, resulting in very low genetic diversity and an increased overall burden of deleterious variation. A further recent decline in the mountain gorilla population has led to extensive inbreeding, such that individuals are typically homozygous at 34% of their sequence, leading to the purging of severely deleterious recessive mutations from the population. We discuss the causes of their decline and the consequences for their future survival.
Published: 2015

16. Genome-wide analysis of cold adaptation in indigenous Siberian populations

Author: Cardona, Alexia, Pagani, Luca, Antao, Tiago, Lawson, Daniel J., Eichstaedt, Christina, Yngvadottir, Bryndis, Shwe, Ma Than Than, Wee, Joseph, Gallego Romero, Irene, Raj, Srilakshmi, Metspalu, Mait, Villems, Richard, Willerslev, Eske, Tyler-Smith, Chris, Malyarchuk, Boris A., Derenko, Miroslava V., Kivisild, Toomas, Cardona, Alexia, Pagani, Luca, Antao, Tiago, Lawson, Daniel J., Eichstaedt, Christina, Yngvadottir, Bryndis, Shwe, Ma Than Than, Wee, Joseph, Gallego Romero, Irene, Raj, Srilakshmi, Metspalu, Mait, Villems, Richard, Willerslev, Eske, Tyler-Smith, Chris, Malyarchuk, Boris A., Derenko, Miroslava V., and Kivisild, Toomas
Published: 2014

17. A selective sweep on a deleterious mutation in CPT1A in Arctic populations

Author: Clemente, Florian J., Cardona, Alexia, Inchly, Charlotte E., Peters, Benjamin M., Jacobs, Guy, Pagani, Luca, Lawson, Daniel J., Añtao, Tiago, Vicente, Mário, Mitt, Mario, DiGiorgio, Michael, Faltyskova, Zuzana, Xue, Yali, Ayub, Qasim, Szpak, Michal, Mägi, Reedik, Eriksson, Anders, Manica, Andrea, Raghavan, Maanasa, Rasmussen, Morten, Rasmussen, Simon, Willerslev, Eske, Vidal-Puig, Antonio, Tyler-Smith, Chris, Willems, Richard, Nielsen, Rasmus, Metspalu, Mait, Malyarchuk, Boris, Derenko, Miroslava, Kivisild, Toomas, Clemente, Florian J., Cardona, Alexia, Inchly, Charlotte E., Peters, Benjamin M., Jacobs, Guy, Pagani, Luca, Lawson, Daniel J., Añtao, Tiago, Vicente, Mário, Mitt, Mario, DiGiorgio, Michael, Faltyskova, Zuzana, Xue, Yali, Ayub, Qasim, Szpak, Michal, Mägi, Reedik, Eriksson, Anders, Manica, Andrea, Raghavan, Maanasa, Rasmussen, Morten, Rasmussen, Simon, Willerslev, Eske, Vidal-Puig, Antonio, Tyler-Smith, Chris, Willems, Richard, Nielsen, Rasmus, Metspalu, Mait, Malyarchuk, Boris, Derenko, Miroslava, and Kivisild, Toomas
Published: 2014

18. 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

19. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

Author: Purps, Josephine, Siegert, Sabine, Willuweit, Sascha, Nagy, Marion, Alves, Cíntia, Salazar, Renato, Angustia, Sheila M T, Santos, Lorna H, Anslinger, Katja, Bayer, Birgit, Ayub, Qasim, Wei, Wei, Xue, Yali, Tyler-Smith, Chris, Bafalluy, Miriam Baeta, Martínez-Jarreta, Begoña, Egyed, Balazs, Balitzki, Beate, Tschumi, Sibylle, Ballard, David, Court, Denise Syndercombe, Barrantes, Xinia, Bäßler, Gerhard, Wiest, Tina, Berger, Burkhard, Niederstätter, Harald, Parson, Walther, Davis, Carey, Budowle, Bruce, Burri, Helen, Borer, Urs, Koller, Christoph, Carvalho, Elizeu F, Domingues, Patricia M, Chamoun, Wafaa Takash, Coble, Michael D, Hill, Carolyn R, Corach, Daniel, Caputo, Mariela, D'Amato, Maria E, Davison, Sean, Decorte, Ronny, Larmuseau, Maarten H D, Ottoni, Claudio, Rickards, Olga, Lu, Di, Jiang, Chengtao, Dobosz, Tadeusz, Jonkisz, Anna, Frank, William E, Furac, Ivana, Gehrig, Christian, Castella, Vincent, Grskovic, Branka, Haas, Cordula, Wobst, Jana, Hadzic, Gavrilo, Drobnic, Katja, Honda, Katsuya, Hou, Yiping, Zhou, Di, Li, Yan, Hu, Shengping, Chen, Shenglan, Immel, Uta-Dorothee, Lessig, Rüdiger, Jakovski, Zlatko, Ilievska, Tanja, Klann, Anja E, García, Cristina Cano, de Knijff, Peter, Kraaijenbrink, Thirsa, Kondili, Aikaterini, Miniati, Penelope, Vouropoulou, Maria, Kovacevic, Lejla, Marjanovic, Damir, Lindner, Iris, Mansour, Issam, Al-Azem, Mouayyad, Andari, Ansar El, Marino, Miguel, Furfuro, Sandra, Locarno, Laura, Martín, Pablo, Luque, Gracia M, Alonso, Antonio, Miranda, Luís Souto, Moreira, Helena, Mizuno, Natsuko, Iwashima, Yasuki, Neto, Rodrigo S Moura, Nogueira, Tatiana L S, Silva, Rosane, Nastainczyk-Wulf, Marina, Edelmann, Jeanett, Kohl, Michael, Nie, Shengjie, Wang, Xianping, Cheng, Baowen, Núñez, Carolina, Pancorbo, Marian Martínez de, Olofsson, Jill Katharina, Morling, Niels, Onofri, Valerio, Tagliabracci, Adriano, Pamjav, Horolma, Volgyi, Antonia, Barany, Gusztav, Pawlowski, Ryszard, Maciejewska, Agnieszka, Pelotti, Susi, Pepinski, Witold, Abreu-Glowacka, Monica, Phillips, Christopher, Cárdenas, Jorge, Rey-Gonzalez, Danel, Salas, Antonio, Brisighelli, Francesca, Capelli, Cristian, Toscanini, Ulises, Piccinini, Andrea, Piglionica, Marilidia, Baldassarra, Stefania L, Ploski, Rafal, Konarzewska, Magdalena, Jastrzebska, Emila, Robino, Carlo, Sajantila, Antti, Palo, Jukka U, Guevara, Evelyn, Salvador, Jazelyn, Ungria, Maria Corazon De, Rodriguez, Jae Joseph Russell, Schmidt, Ulrike, Schlauderer, Nicola, Saukko, Pekka, Schneider, Peter M, Sirker, Miriam, Shin, Kyoung-Jin, Oh, Yu Na, Skitsa, Iulia, Ampati, Alexandra, Smith, Tobi-Gail, Calvit, Lina Solis de, Stenzl, Vlastimil, Capal, Thomas, Tillmar, Andreas, Nilsson, Helena, Turrina, Stefania, De Leo, Domenico, Verzeletti, Andrea, Cortellini, Venusia, Wetton, Jon H, Gwynne, Gareth M, Jobling, Mark A, Whittle, Martin R, Sumita, Denilce R, Wolańska-Nowak, Paulina, Yong, Rita Y Y, Krawczak, Michael, Nothnagel, Michael, Roewer, Lutz, Purps, Josephine, Siegert, Sabine, Willuweit, Sascha, Nagy, Marion, Alves, Cíntia, Salazar, Renato, Angustia, Sheila M T, Santos, Lorna H, Anslinger, Katja, Bayer, Birgit, Ayub, Qasim, Wei, Wei, Xue, Yali, Tyler-Smith, Chris, Bafalluy, Miriam Baeta, Martínez-Jarreta, Begoña, Egyed, Balazs, Balitzki, Beate, Tschumi, Sibylle, Ballard, David, Court, Denise Syndercombe, Barrantes, Xinia, Bäßler, Gerhard, Wiest, Tina, Berger, Burkhard, Niederstätter, Harald, Parson, Walther, Davis, Carey, Budowle, Bruce, Burri, Helen, Borer, Urs, Koller, Christoph, Carvalho, Elizeu F, Domingues, Patricia M, Chamoun, Wafaa Takash, Coble, Michael D, Hill, Carolyn R, Corach, Daniel, Caputo, Mariela, D'Amato, Maria E, Davison, Sean, Decorte, Ronny, Larmuseau, Maarten H D, Ottoni, Claudio, Rickards, Olga, Lu, Di, Jiang, Chengtao, Dobosz, Tadeusz, Jonkisz, Anna, Frank, William E, Furac, Ivana, Gehrig, Christian, Castella, Vincent, Grskovic, Branka, Haas, Cordula, Wobst, Jana, Hadzic, Gavrilo, Drobnic, Katja, Honda, Katsuya, Hou, Yiping, Zhou, Di, Li, Yan, Hu, Shengping, Chen, Shenglan, Immel, Uta-Dorothee, Lessig, Rüdiger, Jakovski, Zlatko, Ilievska, Tanja, Klann, Anja E, García, Cristina Cano, de Knijff, Peter, Kraaijenbrink, Thirsa, Kondili, Aikaterini, Miniati, Penelope, Vouropoulou, Maria, Kovacevic, Lejla, Marjanovic, Damir, Lindner, Iris, Mansour, Issam, Al-Azem, Mouayyad, Andari, Ansar El, Marino, Miguel, Furfuro, Sandra, Locarno, Laura, Martín, Pablo, Luque, Gracia M, Alonso, Antonio, Miranda, Luís Souto, Moreira, Helena, Mizuno, Natsuko, Iwashima, Yasuki, Neto, Rodrigo S Moura, Nogueira, Tatiana L S, Silva, Rosane, Nastainczyk-Wulf, Marina, Edelmann, Jeanett, Kohl, Michael, Nie, Shengjie, Wang, Xianping, Cheng, Baowen, Núñez, Carolina, Pancorbo, Marian Martínez de, Olofsson, Jill Katharina, Morling, Niels, Onofri, Valerio, Tagliabracci, Adriano, Pamjav, Horolma, Volgyi, Antonia, Barany, Gusztav, Pawlowski, Ryszard, Maciejewska, Agnieszka, Pelotti, Susi, Pepinski, Witold, Abreu-Glowacka, Monica, Phillips, Christopher, Cárdenas, Jorge, Rey-Gonzalez, Danel, Salas, Antonio, Brisighelli, Francesca, Capelli, Cristian, Toscanini, Ulises, Piccinini, Andrea, Piglionica, Marilidia, Baldassarra, Stefania L, Ploski, Rafal, Konarzewska, Magdalena, Jastrzebska, Emila, Robino, Carlo, Sajantila, Antti, Palo, Jukka U, Guevara, Evelyn, Salvador, Jazelyn, Ungria, Maria Corazon De, Rodriguez, Jae Joseph Russell, Schmidt, Ulrike, Schlauderer, Nicola, Saukko, Pekka, Schneider, Peter M, Sirker, Miriam, Shin, Kyoung-Jin, Oh, Yu Na, Skitsa, Iulia, Ampati, Alexandra, Smith, Tobi-Gail, Calvit, Lina Solis de, Stenzl, Vlastimil, Capal, Thomas, Tillmar, Andreas, Nilsson, Helena, Turrina, Stefania, De Leo, Domenico, Verzeletti, Andrea, Cortellini, Venusia, Wetton, Jon H, Gwynne, Gareth M, Jobling, Mark A, Whittle, Martin R, Sumita, Denilce R, Wolańska-Nowak, Paulina, Yong, Rita Y Y, Krawczak, Michael, Nothnagel, Michael, and Roewer, Lutz
Abstract: In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.
Published: 2014

20. Genetic signatures reveal high-altitude adaptation in a set of Ethiopian populations

Author: Huerta-Sánchez, Emilia, DeGiorgio, Michael, Pagani, Luca, Tarekegn, Ayele, Ekong, Rosemary, Antao, Tiago, Cardona, Alexia, Montgomery, Hugh E., Cavalleri, Gianpiero L., Robbins, Peter A., Weale, Michael E., Bradman, Neil, Bekele, Endashaw, Kivisild, Toomas, Tyler-Smith, Chris, Nielsen, Rasmus, Huerta-Sánchez, Emilia, DeGiorgio, Michael, Pagani, Luca, Tarekegn, Ayele, Ekong, Rosemary, Antao, Tiago, Cardona, Alexia, Montgomery, Hugh E., Cavalleri, Gianpiero L., Robbins, Peter A., Weale, Michael E., Bradman, Neil, Bekele, Endashaw, Kivisild, Toomas, Tyler-Smith, Chris, and Nielsen, Rasmus
Published: 2013

21. Contrasting signals of positive selection in genes involved in human skin color variation from tests based on SNP scans and resequencing

Author: de Gruijter, JM (Johanna), Lao Grueso, Oscar, Vermeulen, Mark, Xue, Y, Woodwark, C, Gillson, CJ, Coffey, AJ, Ayub, Q, Mehdi, SO, Kayser, Manfred, Tyler-Smith, C, de Gruijter, JM (Johanna), Lao Grueso, Oscar, Vermeulen, Mark, Xue, Y, Woodwark, C, Gillson, CJ, Coffey, AJ, Ayub, Q, Mehdi, SO, Kayser, Manfred, and Tyler-Smith, C
Published: 2011

22. A Worldwide Survey of Human Male Demographic History Based on Y-SNP and Y-STR Data from the HGDP-CEPH Populations

Author: Shi, WT, Ayub, Q, Vermeulen, Mark, Shao, RG, Zuniga, S, van der Gaag, K, de Knijff, P, Kayser, Manfred, Xue, YL, Tyler-Smith, C, Shi, WT, Ayub, Q, Vermeulen, Mark, Shao, RG, Zuniga, S, van der Gaag, K, de Knijff, P, Kayser, Manfred, Xue, YL, and Tyler-Smith, C
Abstract: We have investigated human male demographic history using 590 males from 51 populations in the Human Genome Diversity Project - Centre d'Etude du Polymorphisme Humain worldwide panel, typed with 37 Y-chromosomal Single Nucleotide Polymorphisms and 65 Y-chromosomal Short Tandem Repeats and analyzed with the program Bayesian Analysis of Trees With Internal Node Generation. The general patterns we observe show a gradient from the oldest population time to the most recent common ancestors (TMRCAs) and expansion times together with the largest effective population sizes in Africa, to the youngest times and smallest effective population sizes in the Americas. These parameters are significantly negatively correlated with distance from East Africa, and the patterns are consistent with most other studies of human variation and history. In contrast, growth rate showed a weaker correlation in the opposite direction. Y-lineage diversity and TMRCA also decrease with distance from East Africa, supporting a model of expansion with serial founder events starting from this source. A number of individual populations diverge from these general patterns, including previously documented examples such as recent expansions of the Yoruba in Africa, Basques in Europe, and Yakut in Northern Asia. However, some unexpected demographic histories were also found, including low growth rates in the Hazara and Kalash from Pakistan and recent expansion of the Mozabites in North Africa.
Published: 2010

23. Mapping post-glacial expansions

Author: Khazen, Georges, Zalloua, Pierre A., Platt, Daniel E., Dagher- Kharrat, Magda Bou, Douaihy, Bouchra, Bonab, Maziar Ashrafian, Salloum, Angelique, Mouzaya, Francis, Luiselli, Donata, Tyler-Smith, Chris, Renfrew, Colin, Matisoo-Smith, Elizabeth, Khazen, Georges, Zalloua, Pierre A., Platt, Daniel E., Dagher- Kharrat, Magda Bou, Douaihy, Bouchra, Bonab, Maziar Ashrafian, Salloum, Angelique, Mouzaya, Francis, Luiselli, Donata, Tyler-Smith, Chris, Renfrew, Colin, and Matisoo-Smith, Elizabeth
Abstract: Archaeological, palaeontological and geological evidence shows that post-glacial warming released human populations from their various climate-bound refugia. Yet specific connections between these refugia and the timing and routes of post-glacial migrations that ultimately established modern patterns of genetic variation remain elusive. Here, we use Y-chromosome markers combined with autosomal data to reconstruct population expansions from regional refugia in Southwest Asia. Populations from three regions in particular possess distinctive autosomal genetic signatures indicative of likely refugia: one, in the north, centered around the eastern coast of the Black Sea, the second, with a more Levantine focus, and the third in the southern Arabian Peninsula. Modern populations from these three regions carry the widest diversity and may indeed represent the most likely descendants of the populations responsible for the Neolithic cultures of Southwest Asia. We reveal the distinct and datable expansion routes of populations from these three refugia throughout Southwest Asia and into Europe and North Africa and discuss the possible correlations of these migrations to various cultural and climatic events evident in the archaeological record of the past 15,000 years.
Published: 2017

24. A Neolithic expansion, but strong genetic structure, in the independent history of New Guinea

Author: Bergström, A., Oppenheimer, S., Mentzer, A., Auckland, K., Robson, K., Attenborough, R., Alpers, Michael Philip, Koki, G., Pomat, W., Siba, P., Xue, Y., Sandhu, M., Tyler-Smith, C., Bergström, A., Oppenheimer, S., Mentzer, A., Auckland, K., Robson, K., Attenborough, R., Alpers, Michael Philip, Koki, G., Pomat, W., Siba, P., Xue, Y., Sandhu, M., and Tyler-Smith, C.
Abstract: © 2017, American Association for the Advancement of Science. All rights reserved. New Guinea shows human occupation since ~50 thousand years ago (ka), independent adoption of plant cultivation ~10 ka, and great cultural and linguistic diversity today. We performed genome-wide single-nucleotide polymorphism genotyping on 381 individuals from 85 language groups in Papua New Guinea and find a sharp divide originating 10 to 20 ka between lowland and highland groups and a lack of non–New Guinean admixture in the latter. All highlanders share ancestry within the last 10 thousand years, with major population growth in the same period, suggesting population structure was reshaped following the Neolithic lifestyle transition. However, genetic differentiation between groups in Papua New Guinea is much stronger than in comparable regions in Eurasia, demonstrating that such a transition does not necessarily limit the genetic and linguistic diversity of human societies.
Published: 2017

25. Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background

Author: Krausz, C, Giachini, C, Xue, Y, O'Bryan, M K, Gromoll, J, Rajpert-de Meyts, E, Oliva, R, Aknin-Seifer, I, Erdei, E, Jorgensen, N, Simoni, M, Ballescà, J L, Levy, R, Balercia, G, Piomboni, P, Nieschlag, E, Forti, G, McLachlan, R, Tyler-Smith, C, Krausz, C, Giachini, C, Xue, Y, O'Bryan, M K, Gromoll, J, Rajpert-de Meyts, E, Oliva, R, Aknin-Seifer, I, Erdei, E, Jorgensen, N, Simoni, M, Ballescà, J L, Levy, R, Balercia, G, Piomboni, P, Nieschlag, E, Forti, G, McLachlan, R, and Tyler-Smith, C
Abstract: Udgivelsesdato: 2009-Jan, BACKGROUND: Previous studies have compared sperm phenotypes between men with partial deletions within the AZFc region of the Y chromosome and non-carriers, with variable results. In this study, a separate question was investigated, the basis of the variation in sperm phenotype within gr/gr deletion carriers, which ranges from normozoospermia to azoospermia. Differences in the genes removed by independent gr/gr deletions, the occurrence of subsequent duplications or the presence of linked modifying variants elsewhere on the chromosome have been suggested as possible causal factors. This study set out to test these possibilities in a large sample of gr/gr deletion carriers with known phenotypes spanning the complete range. RESULTS: In total, 169 men diagnosed with gr/gr deletions from six centres in Europe and one in Australia were studied. The DAZ and CDY1 copies retained, the presence or absence of duplications and the Y-chromosomal haplogroup were characterised. Although the study had good power to detect factors that accounted for >or=5.5% of the variation in sperm concentration, no such factor was found. A negative effect of gr/gr deletions followed by b2/b4 duplication was found within the normospermic group, which remains to be further explored in a larger study population. Finally, significant geographical differences in the frequency of different subtypes of gr/gr deletions were found, which may have relevance for the interpretation of case control studies dealing with admixed populations. CONCLUSIONS: The phenotypic variation of gr/gr carriers in men of European origin is largely independent of the Y-chromosomal background.
Published: 2008

26. DNA Commission of the International Society for Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis

Author: Gusmão, L, Butler, J M, Carracedo, A, Gill, P, Kayser, M, Mayr, W R, Morling, N, Prinz, M, Roewer, L, Tyler-Smith, C, Schneider, P M, Gusmão, L, Butler, J M, Carracedo, A, Gill, P, Kayser, M, Mayr, W R, Morling, N, Prinz, M, Roewer, L, Tyler-Smith, C, and Schneider, P M
Abstract: Udgivelsesdato: 2006-Jul, The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. A previous recommendation published in 2001 has already addressed Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). Since then, the use of Y-STRs has become very popular, and numerous new loci have been introduced. The current recommendations address important aspects to clarify problems regarding the nomenclature, the definition of loci and alleles, population genetics and reporting methods
Published: 2006

27. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.

Author: Mallick, Swapan, Mallick, Swapan, Li, Heng, Lipson, Mark, Mathieson, Iain, Gymrek, Melissa, Racimo, Fernando, Zhao, Mengyao, Chennagiri, Niru, Nordenfelt, Susanne, Tandon, Arti, Skoglund, Pontus, Lazaridis, Iosif, Sankararaman, Sriram, Fu, Qiaomei, Rohland, Nadin, Renaud, Gabriel, Erlich, Yaniv, Willems, Thomas, Gallo, Carla, Spence, Jeffrey P, Song, Yun S, Poletti, Giovanni, Balloux, Francois, van Driem, George, de Knijff, Peter, Romero, Irene Gallego, Jha, Aashish R, Behar, Doron M, Bravi, Claudio M, Capelli, Cristian, Hervig, Tor, Moreno-Estrada, Andres, Posukh, Olga L, Balanovska, Elena, Balanovsky, Oleg, Karachanak-Yankova, Sena, Sahakyan, Hovhannes, Toncheva, Draga, Yepiskoposyan, Levon, Tyler-Smith, Chris, Xue, Yali, Abdullah, M Syafiq, Ruiz-Linares, Andres, Beall, Cynthia M, Di Rienzo, Anna, Jeong, Choongwon, Starikovskaya, Elena B, Metspalu, Ene, Parik, Jüri, Villems, Richard, Henn, Brenna M, Hodoglugil, Ugur, Mahley, Robert, Sajantila, Antti, Stamatoyannopoulos, George, Wee, Joseph TS, Khusainova, Rita, Khusnutdinova, Elza, Litvinov, Sergey, Ayodo, George, Comas, David, Hammer, Michael F, Kivisild, Toomas, Klitz, William, Winkler, Cheryl A, Labuda, Damian, Bamshad, Michael, Jorde, Lynn B, Tishkoff, Sarah A, Watkins, W Scott, Metspalu, Mait, Dryomov, Stanislav, Sukernik, Rem, Singh, Lalji, Thangaraj, Kumarasamy, Pääbo, Svante, Kelso, Janet, Patterson, Nick, Reich, David, Mallick, Swapan, Mallick, Swapan, Li, Heng, Lipson, Mark, Mathieson, Iain, Gymrek, Melissa, Racimo, Fernando, Zhao, Mengyao, Chennagiri, Niru, Nordenfelt, Susanne, Tandon, Arti, Skoglund, Pontus, Lazaridis, Iosif, Sankararaman, Sriram, Fu, Qiaomei, Rohland, Nadin, Renaud, Gabriel, Erlich, Yaniv, Willems, Thomas, Gallo, Carla, Spence, Jeffrey P, Song, Yun S, Poletti, Giovanni, Balloux, Francois, van Driem, George, de Knijff, Peter, Romero, Irene Gallego, Jha, Aashish R, Behar, Doron M, Bravi, Claudio M, Capelli, Cristian, Hervig, Tor, Moreno-Estrada, Andres, Posukh, Olga L, Balanovska, Elena, Balanovsky, Oleg, Karachanak-Yankova, Sena, Sahakyan, Hovhannes, Toncheva, Draga, Yepiskoposyan, Levon, Tyler-Smith, Chris, Xue, Yali, Abdullah, M Syafiq, Ruiz-Linares, Andres, Beall, Cynthia M, Di Rienzo, Anna, Jeong, Choongwon, Starikovskaya, Elena B, Metspalu, Ene, Parik, Jüri, Villems, Richard, Henn, Brenna M, Hodoglugil, Ugur, Mahley, Robert, Sajantila, Antti, Stamatoyannopoulos, George, Wee, Joseph TS, Khusainova, Rita, Khusnutdinova, Elza, Litvinov, Sergey, Ayodo, George, Comas, David, Hammer, Michael F, Kivisild, Toomas, Klitz, William, Winkler, Cheryl A, Labuda, Damian, Bamshad, Michael, Jorde, Lynn B, Tishkoff, Sarah A, Watkins, W Scott, Metspalu, Mait, Dryomov, Stanislav, Sukernik, Rem, Singh, Lalji, Thangaraj, Kumarasamy, Pääbo, Svante, Kelso, Janet, Patterson, Nick, and Reich, David
Abstract: Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.
Published: 2016

28. A genomic history of Aboriginal Australia.

Author: Malaspinas, Anna-Sapfo, Malaspinas, Anna-Sapfo, Westaway, Michael C, Muller, Craig, Sousa, Vitor C, Lao, Oscar, Alves, Isabel, Bergström, Anders, Athanasiadis, Georgios, Cheng, Jade Y, Crawford, Jacob E, Heupink, Tim H, Macholdt, Enrico, Peischl, Stephan, Rasmussen, Simon, Schiffels, Stephan, Subramanian, Sankar, Wright, Joanne L, Albrechtsen, Anders, Barbieri, Chiara, Dupanloup, Isabelle, Eriksson, Anders, Margaryan, Ashot, Moltke, Ida, Pugach, Irina, Korneliussen, Thorfinn S, Levkivskyi, Ivan P, Moreno-Mayar, J Víctor, Ni, Shengyu, Racimo, Fernando, Sikora, Martin, Xue, Yali, Aghakhanian, Farhang A, Brucato, Nicolas, Brunak, Søren, Campos, Paula F, Clark, Warren, Ellingvåg, Sturla, Fourmile, Gudjugudju, Gerbault, Pascale, Injie, Darren, Koki, George, Leavesley, Matthew, Logan, Betty, Lynch, Aubrey, Matisoo-Smith, Elizabeth A, McAllister, Peter J, Mentzer, Alexander J, Metspalu, Mait, Migliano, Andrea B, Murgha, Les, Phipps, Maude E, Pomat, William, Reynolds, Doc, Ricaut, Francois-Xavier, Siba, Peter, Thomas, Mark G, Wales, Thomas, Wall, Colleen Ma'run, Oppenheimer, Stephen J, Tyler-Smith, Chris, Durbin, Richard, Dortch, Joe, Manica, Andrea, Schierup, Mikkel H, Foley, Robert A, Lahr, Marta Mirazón, Bowern, Claire, Wall, Jeffrey D, Mailund, Thomas, Stoneking, Mark, Nielsen, Rasmus, Sandhu, Manjinder S, Excoffier, Laurent, Lambert, David M, Willerslev, Eske, Malaspinas, Anna-Sapfo, Malaspinas, Anna-Sapfo, Westaway, Michael C, Muller, Craig, Sousa, Vitor C, Lao, Oscar, Alves, Isabel, Bergström, Anders, Athanasiadis, Georgios, Cheng, Jade Y, Crawford, Jacob E, Heupink, Tim H, Macholdt, Enrico, Peischl, Stephan, Rasmussen, Simon, Schiffels, Stephan, Subramanian, Sankar, Wright, Joanne L, Albrechtsen, Anders, Barbieri, Chiara, Dupanloup, Isabelle, Eriksson, Anders, Margaryan, Ashot, Moltke, Ida, Pugach, Irina, Korneliussen, Thorfinn S, Levkivskyi, Ivan P, Moreno-Mayar, J Víctor, Ni, Shengyu, Racimo, Fernando, Sikora, Martin, Xue, Yali, Aghakhanian, Farhang A, Brucato, Nicolas, Brunak, Søren, Campos, Paula F, Clark, Warren, Ellingvåg, Sturla, Fourmile, Gudjugudju, Gerbault, Pascale, Injie, Darren, Koki, George, Leavesley, Matthew, Logan, Betty, Lynch, Aubrey, Matisoo-Smith, Elizabeth A, McAllister, Peter J, Mentzer, Alexander J, Metspalu, Mait, Migliano, Andrea B, Murgha, Les, Phipps, Maude E, Pomat, William, Reynolds, Doc, Ricaut, Francois-Xavier, Siba, Peter, Thomas, Mark G, Wales, Thomas, Wall, Colleen Ma'run, Oppenheimer, Stephen J, Tyler-Smith, Chris, Durbin, Richard, Dortch, Joe, Manica, Andrea, Schierup, Mikkel H, Foley, Robert A, Lahr, Marta Mirazón, Bowern, Claire, Wall, Jeffrey D, Mailund, Thomas, Stoneking, Mark, Nielsen, Rasmus, Sandhu, Manjinder S, Excoffier, Laurent, Lambert, David M, and Willerslev, Eske
Abstract: The population history of Aboriginal Australians remains largely uncharacterized. Here we generate high-coverage genomes for 83 Aboriginal Australians (speakers of Pama-Nyungan languages) and 25 Papuans from the New Guinea Highlands. We find that Papuan and Aboriginal Australian ancestors diversified 25-40 thousand years ago (kya), suggesting pre-Holocene population structure in the ancient continent of Sahul (Australia, New Guinea and Tasmania). However, all of the studied Aboriginal Australians descend from a single founding population that differentiated ~10-32 kya. We infer a population expansion in northeast Australia during the Holocene epoch (past 10,000 years) associated with limited gene flow from this region to the rest of Australia, consistent with the spread of the Pama-Nyungan languages. We estimate that Aboriginal Australians and Papuans diverged from Eurasians 51-72 kya, following a single out-of-Africa dispersal, and subsequently admixed with archaic populations. Finally, we report evidence of selection in Aboriginal Australians potentially associated with living in the desert.
Published: 2016

29. Iron Age and Anglo-Saxon genomes from East England reveal British migration history

Author: Schiffels, S, Haak, W, Paajanen, P, Llamas, B, Popescu, E, Loe, L, Clarke, R, Lyons, A, Mortimer, R, Sayer, Duncan, Tyler-Smith, C, Cooper, A, Durbin, R, Schiffels, S, Haak, W, Paajanen, P, Llamas, B, Popescu, E, Loe, L, Clarke, R, Lyons, A, Mortimer, R, Sayer, Duncan, Tyler-Smith, C, Cooper, A, and Durbin, R
Abstract: British population history has been shaped by a series of immigrations, including the early Anglo-Saxon migrations after 400 CE. It remains an open question how these events affected the genetic composition of the current British population. Here, we present whole-genome sequences from 10 individuals excavated close to Cambridge in the East of England, ranging from the late Iron Age to the middle Anglo-Saxon period. By analysing shared rare variants with hundreds of modern samples from Britain and Europe, we estimate that on average the contemporary East English population derives 38% of its ancestry from Anglo-Saxon migrations. We gain further insight with a new method, rarecoal, which infers population history and identifies fine-scale genetic ancestry from rare variants. Using rarecoal we find that the Anglo-Saxon samples are closely related to modern Dutch and Danish populations, while the Iron Age samples share ancestors with multiple Northern European populations including Britain.
Published: 2016

30. Deep Roots for Aboriginal Australian Y Chromosomes.

Author: Bergström, A, Nagle, N, Chen, Y, McCarthy, S, Pollard, MO, Ayub, Q, Wilcox, S, Wilcox, L, van Oorschot, RAH, McAllister, P, Williams, L, Xue, Y, Mitchell, RJ, Tyler-Smith, C, Bergström, A, Nagle, N, Chen, Y, McCarthy, S, Pollard, MO, Ayub, Q, Wilcox, S, Wilcox, L, van Oorschot, RAH, McAllister, P, Williams, L, Xue, Y, Mitchell, RJ, and Tyler-Smith, C
Abstract: Australia was one of the earliest regions outside Africa to be colonized by fully modern humans, with archaeological evidence for human presence by 47,000 years ago (47 kya) widely accepted [1, 2]. However, the extent of subsequent human entry before the European colonial age is less clear. The dingo reached Australia about 4 kya, indirectly implying human contact, which some have linked to changes in language and stone tool technology to suggest substantial cultural changes at the same time [3]. Genetic data of two kinds have been proposed to support gene flow from the Indian subcontinent to Australia at this time, as well: first, signs of South Asian admixture in Aboriginal Australian genomes have been reported on the basis of genome-wide SNP data [4]; and second, a Y chromosome lineage designated haplogroup C(∗), present in both India and Australia, was estimated to have a most recent common ancestor around 5 kya and to have entered Australia from India [5]. Here, we sequence 13 Aboriginal Australian Y chromosomes to re-investigate their divergence times from Y chromosomes in other continents, including a comparison of Aboriginal Australian and South Asian haplogroup C chromosomes. We find divergence times dating back to ∼50 kya, thus excluding the Y chromosome as providing evidence for recent gene flow from India into Australia.
Published: 2016

31. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Author: Mallick, S, Li, H, Lipson, M, Mathieson, I, Gymrek, M, Racimo, F, Zhao, M, Chennagiri, N, Nordenfelt, S, Tandon, A, Skoglund, P, Lazaridis, I, Sankararaman, S, Fu, Q, Rohland, N, Renaud, G, Erlich, Y, Willems, T, Gallo, C, Spence, JP, Song, YS, Poletti, G, Balloux, F, van Driem, G, de Knijff, P, Romero, IG, Jha, AR, Behar, DM, Bravi, CM, Capelli, C, Hervig, T, Moreno-Estrada, A, Posukh, OL, Balanovska, E, Balanovsky, O, Karachanak-Yankova, S, Sahakyan, H, Toncheva, D, Yepiskoposyan, L, Tyler-Smith, C, Xue, Y, Abdullah, MS, Ruiz-Linares, A, Beall, CM, Di Rienzo, A, Jeong, C, Starikovskaya, EB, Metspalu, E, Parik, J, Villems, R, Henn, BM, Hodoglugil, U, Mahley, R, Sajantila, A, Stamatoyannopoulos, G, Wee, JTS, Khusainova, R, Khusnutdinova, E, Litvinov, S, Ayodo, G, Comas, D, Hammer, MF, Kivisild, T, Klitz, W, Winkler, CA, Labuda, D, Bamshad, M, Jorde, LB, Tishkoff, SA, Watkins, WS, Metspalu, M, Dryomov, S, Sukernik, R, Singh, L, Thangaraj, K, Paeaebo, S, Kelso, J, Patterson, N, Reich, D, Mallick, S, Li, H, Lipson, M, Mathieson, I, Gymrek, M, Racimo, F, Zhao, M, Chennagiri, N, Nordenfelt, S, Tandon, A, Skoglund, P, Lazaridis, I, Sankararaman, S, Fu, Q, Rohland, N, Renaud, G, Erlich, Y, Willems, T, Gallo, C, Spence, JP, Song, YS, Poletti, G, Balloux, F, van Driem, G, de Knijff, P, Romero, IG, Jha, AR, Behar, DM, Bravi, CM, Capelli, C, Hervig, T, Moreno-Estrada, A, Posukh, OL, Balanovska, E, Balanovsky, O, Karachanak-Yankova, S, Sahakyan, H, Toncheva, D, Yepiskoposyan, L, Tyler-Smith, C, Xue, Y, Abdullah, MS, Ruiz-Linares, A, Beall, CM, Di Rienzo, A, Jeong, C, Starikovskaya, EB, Metspalu, E, Parik, J, Villems, R, Henn, BM, Hodoglugil, U, Mahley, R, Sajantila, A, Stamatoyannopoulos, G, Wee, JTS, Khusainova, R, Khusnutdinova, E, Litvinov, S, Ayodo, G, Comas, D, Hammer, MF, Kivisild, T, Klitz, W, Winkler, CA, Labuda, D, Bamshad, M, Jorde, LB, Tishkoff, SA, Watkins, WS, Metspalu, M, Dryomov, S, Sukernik, R, Singh, L, Thangaraj, K, Paeaebo, S, Kelso, J, Patterson, N, and Reich, D
Abstract: Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.
Published: 2016

32. Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations

Author: Wellcome Trust, Haber, Marc, Mezzavilla, Massimo, Xue, Yali, Comas, David, Gasparini, Paolo, Zalloua, Pierre, Tyler-Smith, Chris, Wellcome Trust, Haber, Marc, Mezzavilla, Massimo, Xue, Yali, Comas, David, Gasparini, Paolo, Zalloua, Pierre, and Tyler-Smith, Chris
Abstract: The Armenians are a culturally isolated population who historically inhabited a region in the Near East bounded by the Mediterranean and Black seas and the Caucasus, but remain under-represented in genetic studies and have a complex history including a major geographic displacement during World War I. Here, we analyse genome-wide variation in 173 Armenians and compare them with 78 other worldwide populations. We find that Armenians form a distinctive cluster linking the Near East, Europe, and the Caucasus. We show that Armenian diversity can be explained by several mixtures of Eurasian populations that occurred between ~3000 and ~2000 bce, a period characterized by major population migrations after the domestication of the horse, appearance of chariots, and the rise of advanced civilizations in the Near East. However, genetic signals of population mixture cease after ~1200 bce when Bronze Age civilizations in the Eastern Mediterranean world suddenly and violently collapsed. Armenians have since remained isolated and genetic structure within the population developed ~500 years ago when Armenia was divided between the Ottomans and the Safavid Empire in Iran. Finally, we show that Armenians have higher genetic affinity to Neolithic Europeans than other present-day Near Easterners, and that 29% of Armenian ancestry may originate from an ancestral population that is best represented by Neolithic Europeans.
Published: 2016

33. DNA Commission of the International Society of Forensic Genetics:recommendations on forensic analysis using Y-chromosome short tandem repeats

Author: Gill, P., Brenner, C., Brinkmann, B., Budowle, B., Carracedo, A., Jobling, M.A., Knijff, P. de, Kayser, M., Krawczak, M., Mayr, W.R., Morling, N., Olaisen, B., Pascali, V., Prinz, M., Roewer, L., Schneider, P.M., Sajantila, A., Tyler-Smith, C., Gill, P., Brenner, C., Brinkmann, B., Budowle, B., Carracedo, A., Jobling, M.A., Knijff, P. de, Kayser, M., Krawczak, M., Mayr, W.R., Morling, N., Olaisen, B., Pascali, V., Prinz, M., Roewer, L., Schneider, P.M., Sajantila, A., and Tyler-Smith, C.
Abstract: During the past few years the DNA commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area, namely Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods Udgivelsesdato: 2001/12
Published: 2001

34. DNA Commission of the International Society for Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

Author: Gill, P, Brenner, C, Brinkmann, B, Budowle, B, Carracedo, A, Jobling, M A, de Knijff, P, Kayser, M, Krawczak, M, Mayr, W R, Morling, N, Olaisen, B, Pascali, V, Prinz, M, Roewer, L, Schneider, Peter M, Sajantila, A, Tyler-Smith, C, Gill, P, Brenner, C, Brinkmann, B, Budowle, B, Carracedo, A, Jobling, M A, de Knijff, P, Kayser, M, Krawczak, M, Mayr, W R, Morling, N, Olaisen, B, Pascali, V, Prinz, M, Roewer, L, Schneider, Peter M, Sajantila, A, and Tyler-Smith, C
Abstract: Udgivelsesdato: 2001-Dec-15, During the past few years, the DNA Commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area - namely, Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods.
Published: 2001

35. Global diversity, population stratification, and selection of human copy-number variation.

Author: Sudmant, Peter H, Sudmant, Peter H, Mallick, Swapan, Nelson, Bradley J, Hormozdiari, Fereydoun, Krumm, Niklas, Huddleston, John, Coe, Bradley P, Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn B, Posukh, Olga L, Sahakyan, Hovhannes, Watkins, W Scott, Yepiskoposyan, Levon, Abdullah, M Syafiq, Bravi, Claudio M, Capelli, Cristian, Hervig, Tor, Wee, Joseph TS, Tyler-Smith, Chris, van Driem, George, Romero, Irene Gallego, Jha, Aashish R, Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Henn, Brenna, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena B, Ayodo, George, Beall, Cynthia M, Di Rienzo, Anna, Hammer, Michael F, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah A, Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, Eichler, Evan E, Sudmant, Peter H, Sudmant, Peter H, Mallick, Swapan, Nelson, Bradley J, Hormozdiari, Fereydoun, Krumm, Niklas, Huddleston, John, Coe, Bradley P, Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn B, Posukh, Olga L, Sahakyan, Hovhannes, Watkins, W Scott, Yepiskoposyan, Levon, Abdullah, M Syafiq, Bravi, Claudio M, Capelli, Cristian, Hervig, Tor, Wee, Joseph TS, Tyler-Smith, Chris, van Driem, George, Romero, Irene Gallego, Jha, Aashish R, Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Henn, Brenna, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena B, Ayodo, George, Beall, Cynthia M, Di Rienzo, Anna, Hammer, Michael F, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah A, Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, and Eichler, Evan E
Abstract: In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
Published: 2015

36. A recent bottleneck of Y chromosome diversity coincides with a global change in culture

Author: Karmin, M., Saag, L., Vicente, M., Wilson Sayres, M.A., Jarve, M., Talas, U.G., Rootsi, S., Ilumae, A.M., Magi, R., Mitt, M., Pagani, L., Puurand, T., Faltyskova, Z., Clemente, F., Cardona, A., Metspalu, E., Sahakyan, H., Yunusbayev, B., Hudjashov, G., DeGiorgio, M., Loogvali, E.L., Eichstaedt, C., Eelmets, M., Chaubey, G., Tambets, K., Litvinov, S., Mormina, M., Xue, Y., Ayub, Q., Zoraqi, G., Korneliussen, T.S., Akhatova, F., Lachance, J., Tishkoff, S., Momynaliev, K., Ricaut, F.X., Kusuma, P., Razafindrazaka, H., Pierron, D., Cox, M.P., Sultana, G.N., Willerslev, R., Muller, C., Westaway, M., Lambert, D., Skaro, V., Kovacevic, L., Turdikulova, S., Dalimova, D., Khusainova, R., Trofimova, N., Akhmetova, V., Khidiyatova, I., Lichman, D.V., Isakova, J., Pocheshkhova, E., Sabitov, Z., Barashkov, N.A., Nymadawa, P., Mihailov, E., Seng, J.W., Evseeva, I., Migliano, A.B., Abdullah, S., Andriadze, G., Primorac, D., Atramentova, L., Utevska, O., Yepiskoposyan, L., Marjanovic, D., Kushniarevich, A., Behar, D.M., Gilissen, C., Vissers, L., Veltman, J.A., Balanovska, E., Derenko, M., Malyarchuk, B., Metspalu, A., Fedorova, S., Eriksson, A., Manica, A., Mendez, F.L., Karafet, T.M., Veeramah, K.R., Bradman, N., Hammer, M.F., Osipova, L.P., Balanovsky, O., Khusnutdinova, E.K., Johnsen, K., Remm, M., Thomas, M.G., Tyler-Smith, C., Underhill, P.A., Willerslev, E., Nielsen, R., Metspalu, M., Villems, R., Kivisild, T., Karmin, M., Saag, L., Vicente, M., Wilson Sayres, M.A., Jarve, M., Talas, U.G., Rootsi, S., Ilumae, A.M., Magi, R., Mitt, M., Pagani, L., Puurand, T., Faltyskova, Z., Clemente, F., Cardona, A., Metspalu, E., Sahakyan, H., Yunusbayev, B., Hudjashov, G., DeGiorgio, M., Loogvali, E.L., Eichstaedt, C., Eelmets, M., Chaubey, G., Tambets, K., Litvinov, S., Mormina, M., Xue, Y., Ayub, Q., Zoraqi, G., Korneliussen, T.S., Akhatova, F., Lachance, J., Tishkoff, S., Momynaliev, K., Ricaut, F.X., Kusuma, P., Razafindrazaka, H., Pierron, D., Cox, M.P., Sultana, G.N., Willerslev, R., Muller, C., Westaway, M., Lambert, D., Skaro, V., Kovacevic, L., Turdikulova, S., Dalimova, D., Khusainova, R., Trofimova, N., Akhmetova, V., Khidiyatova, I., Lichman, D.V., Isakova, J., Pocheshkhova, E., Sabitov, Z., Barashkov, N.A., Nymadawa, P., Mihailov, E., Seng, J.W., Evseeva, I., Migliano, A.B., Abdullah, S., Andriadze, G., Primorac, D., Atramentova, L., Utevska, O., Yepiskoposyan, L., Marjanovic, D., Kushniarevich, A., Behar, D.M., Gilissen, C., Vissers, L., Veltman, J.A., Balanovska, E., Derenko, M., Malyarchuk, B., Metspalu, A., Fedorova, S., Eriksson, A., Manica, A., Mendez, F.L., Karafet, T.M., Veeramah, K.R., Bradman, N., Hammer, M.F., Osipova, L.P., Balanovsky, O., Khusnutdinova, E.K., Johnsen, K., Remm, M., Thomas, M.G., Tyler-Smith, C., Underhill, P.A., Willerslev, E., Nielsen, R., Metspalu, M., Villems, R., and Kivisild, T.
Abstract: Contains fulltext : 153022.pdf (publisher's version ) (Open Access), It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, we date the Y-chromosomal most recent common ancestor (MRCA) in Africa at 254 (95% CI 192-307) kya and detect a cluster of major non-African founder haplogroups in a narrow time interval at 47-52 kya, consistent with a rapid initial colonization model of Eurasia and Oceania after the out-of-Africa bottleneck. In contrast to demographic reconstructions based on mtDNA, we infer a second strong bottleneck in Y-chromosome lineages dating to the last 10 ky. We hypothesize that this bottleneck is caused by cultural changes affecting variance of reproductive success among males.
Published: 2015

37. POPULATION GENETICS. Genomic evidence for the Pleistocene and recent population history of Native Americans.

Author: Raghavan, Maanasa, Raghavan, Maanasa, Steinrücken, Matthias, Harris, Kelley, Schiffels, Stephan, Rasmussen, Simon, DeGiorgio, Michael, Albrechtsen, Anders, Valdiosera, Cristina, Ávila-Arcos, María C, Malaspinas, Anna-Sapfo, Eriksson, Anders, Moltke, Ida, Metspalu, Mait, Homburger, Julian R, Wall, Jeff, Cornejo, Omar E, Moreno-Mayar, J Víctor, Korneliussen, Thorfinn S, Pierre, Tracey, Rasmussen, Morten, Campos, Paula F, de Barros Damgaard, Peter, Allentoft, Morten E, Lindo, John, Metspalu, Ene, Rodríguez-Varela, Ricardo, Mansilla, Josefina, Henrickson, Celeste, Seguin-Orlando, Andaine, Malmström, Helena, Stafford, Thomas, Shringarpure, Suyash S, Moreno-Estrada, Andrés, Karmin, Monika, Tambets, Kristiina, Bergström, Anders, Xue, Yali, Warmuth, Vera, Friend, Andrew D, Singarayer, Joy, Valdes, Paul, Balloux, Francois, Leboreiro, Ilán, Vera, Jose Luis, Rangel-Villalobos, Hector, Pettener, Davide, Luiselli, Donata, Davis, Loren G, Heyer, Evelyne, Zollikofer, Christoph PE, Ponce de León, Marcia S, Smith, Colin I, Grimes, Vaughan, Pike, Kelly-Anne, Deal, Michael, Fuller, Benjamin T, Arriaza, Bernardo, Standen, Vivien, Luz, Maria F, Ricaut, Francois, Guidon, Niede, Osipova, Ludmila, Voevoda, Mikhail I, Posukh, Olga L, Balanovsky, Oleg, Lavryashina, Maria, Bogunov, Yuri, Khusnutdinova, Elza, Gubina, Marina, Balanovska, Elena, Fedorova, Sardana, Litvinov, Sergey, Malyarchuk, Boris, Derenko, Miroslava, Mosher, MJ, Archer, David, Cybulski, Jerome, Petzelt, Barbara, Mitchell, Joycelynn, Worl, Rosita, Norman, Paul J, Parham, Peter, Kemp, Brian M, Kivisild, Toomas, Tyler-Smith, Chris, Sandhu, Manjinder S, Crawford, Michael, Villems, Richard, Smith, David Glenn, Waters, Michael R, Goebel, Ted, Johnson, John R, Malhi, Ripan S, Jakobsson, Mattias, Meltzer, David J, Manica, Andrea, Durbin, Richard, Bustamante, Carlos D, Song, Yun S, Nielsen, Rasmus, Raghavan, Maanasa, Raghavan, Maanasa, Steinrücken, Matthias, Harris, Kelley, Schiffels, Stephan, Rasmussen, Simon, DeGiorgio, Michael, Albrechtsen, Anders, Valdiosera, Cristina, Ávila-Arcos, María C, Malaspinas, Anna-Sapfo, Eriksson, Anders, Moltke, Ida, Metspalu, Mait, Homburger, Julian R, Wall, Jeff, Cornejo, Omar E, Moreno-Mayar, J Víctor, Korneliussen, Thorfinn S, Pierre, Tracey, Rasmussen, Morten, Campos, Paula F, de Barros Damgaard, Peter, Allentoft, Morten E, Lindo, John, Metspalu, Ene, Rodríguez-Varela, Ricardo, Mansilla, Josefina, Henrickson, Celeste, Seguin-Orlando, Andaine, Malmström, Helena, Stafford, Thomas, Shringarpure, Suyash S, Moreno-Estrada, Andrés, Karmin, Monika, Tambets, Kristiina, Bergström, Anders, Xue, Yali, Warmuth, Vera, Friend, Andrew D, Singarayer, Joy, Valdes, Paul, Balloux, Francois, Leboreiro, Ilán, Vera, Jose Luis, Rangel-Villalobos, Hector, Pettener, Davide, Luiselli, Donata, Davis, Loren G, Heyer, Evelyne, Zollikofer, Christoph PE, Ponce de León, Marcia S, Smith, Colin I, Grimes, Vaughan, Pike, Kelly-Anne, Deal, Michael, Fuller, Benjamin T, Arriaza, Bernardo, Standen, Vivien, Luz, Maria F, Ricaut, Francois, Guidon, Niede, Osipova, Ludmila, Voevoda, Mikhail I, Posukh, Olga L, Balanovsky, Oleg, Lavryashina, Maria, Bogunov, Yuri, Khusnutdinova, Elza, Gubina, Marina, Balanovska, Elena, Fedorova, Sardana, Litvinov, Sergey, Malyarchuk, Boris, Derenko, Miroslava, Mosher, MJ, Archer, David, Cybulski, Jerome, Petzelt, Barbara, Mitchell, Joycelynn, Worl, Rosita, Norman, Paul J, Parham, Peter, Kemp, Brian M, Kivisild, Toomas, Tyler-Smith, Chris, Sandhu, Manjinder S, Crawford, Michael, Villems, Richard, Smith, David Glenn, Waters, Michael R, Goebel, Ted, Johnson, John R, Malhi, Ripan S, Jakobsson, Mattias, Meltzer, David J, Manica, Andrea, Durbin, Richard, Bustamante, Carlos D, Song, Yun S, and Nielsen, Rasmus
Abstract: How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative "Paleoamerican" relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.
Published: 2015

38. Structural variation on the human Y chromosome from population-scale resequencing

Author: Jose Rodrigo Flores Espinosa, Qasim Ayub, Yuan Chen, Yali Xue, Chris Tyler-Smith, Jose Rodrigo Flores Espinosa, Qasim Ayub, Yuan Chen, Yali Xue, and Chris Tyler-Smith
Abstract: Aim To investigate the information about Y-structural variants (SVs) in the general population that could be obtained by low-coverage whole-genome sequencing. Methods We investigated SVs on the male-specific portion of the Y chromosome in the 70 individuals from Africa, Europe, or East Asia sequenced as part of the 1000 Genomes Pilot project, using data from this project and from additional studies on the same samples. We applied a combination of read-depth and read-pair methods to discover candidate Y-SVs, followed by validation using information from the literature, independent sequence and single nucleotide polymorphism-chip data sets, and polymerase chain reaction experiments. Results We validated 19 Y-SVs, 2 of which were novel. Nonreference allele counts ranged from 1 to 64. The regions richest in variation were the heterochromatic segments near the centromere or the DYZ19 locus, followed by the ampliconic regions, but some Y-SVs were also present in the X-transposed and X-degenerate regions. In all, 5 of the 27 protein-coding gene families on the Y chromosome varied in copy number. Conclusions We confirmed that Y-SVs were readily detected from low-coverage sequence data and were abundant on the chromosome. We also reported both common and rare Y-SVs that are novel
Published: 2015

39. Evidence for a Common Origin of Blacksmiths and Cultivators in the Ethiopian Ari within the Last 4500 Years: Lessons for Clustering-Based Inference

Author: Di Rienzo, A, van Dorp, L, Balding, D, Myers, S, Pagani, L, Tyler-Smith, C, Bekele, E, Tarekegn, A, Thomas, MG, Bradman, N, Hellenthal, G, Di Rienzo, A, van Dorp, L, Balding, D, Myers, S, Pagani, L, Tyler-Smith, C, Bekele, E, Tarekegn, A, Thomas, MG, Bradman, N, and Hellenthal, G
Abstract: The Ari peoples of Ethiopia are comprised of different occupational groups that can be distinguished genetically, with Ari Cultivators and the socially marginalised Ari Blacksmiths recently shown to have a similar level of genetic differentiation between them (FST ≈ 0.023 - 0.04) as that observed among multiple ethnic groups sampled throughout Ethiopia. Anthropologists have proposed two competing theories to explain the origins of the Ari Blacksmiths as (i) remnants of a population that inhabited Ethiopia prior to the arrival of agriculturists (e.g. Cultivators), or (ii) relatively recently related to the Cultivators but presently marginalized in the community due to their trade. Two recent studies by different groups analysed genome-wide DNA from samples of Ari Blacksmiths and Cultivators and suggested that genetic patterns between the two groups were more consistent with model (i) and subsequent assimilation of the indigenous peoples into the expanding agriculturalist community. We analysed the same samples using approaches designed to attenuate signals of genetic differentiation that are attributable to allelic drift within a population. By doing so, we provide evidence that the genetic differences between Ari Blacksmiths and Cultivators can be entirely explained by bottleneck effects consistent with hypothesis (ii). This finding serves as both a cautionary tale about interpreting results from unsupervised clustering algorithms, and suggests that social constructions are contributing directly to genetic differentiation over a relatively short time period among previously genetically similar groups.
Published: 2015

40. Identifying Genetic Traces of Historical Expansions

Author: El-Sibai, Mirvat, Zalloua, Pierre A., Platt, Daniel E., Khalife, Jade, Makhoul, Nadine, Haber, Marc, Xue, Yali, Izaabel, Hassan, Bosch, Elena, Adams, Susan M., Arroyo, Eduardo, Lopez-Parra, Ana Maria, Aler, Mercedes, Picornell, Antonia, Ramon, Misericordia, Jobling, Mark A., Comas, David, Bertranpetit, Jaume, Wells, R. Spencer, Tyler-Smith, Chris, The Genographic Consortium, El-Sibai, Mirvat, Zalloua, Pierre A., Platt, Daniel E., Khalife, Jade, Makhoul, Nadine, Haber, Marc, Xue, Yali, Izaabel, Hassan, Bosch, Elena, Adams, Susan M., Arroyo, Eduardo, Lopez-Parra, Ana Maria, Aler, Mercedes, Picornell, Antonia, Ramon, Misericordia, Jobling, Mark A., Comas, David, Bertranpetit, Jaume, Wells, R. Spencer, Tyler-Smith, Chris, and The Genographic Consortium
Abstract: The Phoenicians were the dominant traders in the Mediterranean Sea two thousand to three thousand years ago and expanded from their homeland in the Levant to establish colonies and trading posts throughout the Mediterranean, but then they disappeared from history. We wished to identify their male genetic traces in modern populations. Therefore, we chose Phoenician-influenced sites on the basis of well-documented historical records and collected new Y-chromosomal data from 1330 men from six such sites, as well as comparative data from the literature. We then developed an analytical strategy to distinguish between lineages specifically associated with the Phoenicians and those spread by geographically similar but historically distinct events, such as the Neolithic, Greek, and Jewish expansions. This involved comparing historically documented Phoenician sites with neighboring non-Phoenician sites for the identification of weak but systematic signatures shared by the Phoenician sites that could not readily be explained by chance or by other expansions. From these comparisons, we found that haplogroup J2, in general, and six Y-STR haplotypes, in particular, exhibited a Phoenician signature that contributed > 6% to the modern Phoenician-influenced populations examined. Our methodology can be applied to any historically documented expansion in which contact and noncontact sites can be identified.
Published: 2015

41. Global diversity, population stratification, and selection of human copy-number variation.

Author: Krumm, Niklas, Krumm, Niklas, Huddleston, John, Coe, Bradley, Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn, Posukh, Olga, Sahakyan, Hovhannes, Watkins, W, Yepiskoposyan, Levon, Abdullah, M, Bravi, Claudio, Capelli, Cristian, Hervig, Tor, Wee, Joseph, Tyler-Smith, Chris, van Driem, George, Romero, Irene, Jha, Aashish, Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena, Ayodo, George, Beall, Cynthia, Di Rienzo, Anna, Hammer, Michael, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah, Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, Eichler, Evan, Mallick, Swapan, Nelson, Bradley, Hormozdiari, Fereydoun, Henn, Brenna, Sudmant, Peter, Krumm, Niklas, Krumm, Niklas, Huddleston, John, Coe, Bradley, Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn, Posukh, Olga, Sahakyan, Hovhannes, Watkins, W, Yepiskoposyan, Levon, Abdullah, M, Bravi, Claudio, Capelli, Cristian, Hervig, Tor, Wee, Joseph, Tyler-Smith, Chris, van Driem, George, Romero, Irene, Jha, Aashish, Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena, Ayodo, George, Beall, Cynthia, Di Rienzo, Anna, Hammer, Michael, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah, Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, Eichler, Evan, Mallick, Swapan, Nelson, Bradley, Hormozdiari, Fereydoun, Henn, Brenna, and Sudmant, Peter
Abstract: In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single-nucleotide-variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
Published: 2015

42. POPULATION GENETICS. Genomic evidence for the Pleistocene and recent population history of Native Americans.

Author: Moreno-Mayar, J, Moreno-Mayar, J, Korneliussen, Thorfinn, Pierre, Tracey, Rasmussen, Morten, Campos, Paula, de Barros Damgaard, Peter, Allentoft, Morten, Lindo, John, Metspalu, Ene, Rodríguez-Varela, Ricardo, Mansilla, Josefina, Henrickson, Celeste, Seguin-Orlando, Andaine, Malmström, Helena, Stafford, Thomas, Shringarpure, Suyash, Moreno-Estrada, Andrés, Karmin, Monika, Tambets, Kristiina, Bergström, Anders, Xue, Yali, Warmuth, Vera, Friend, Andrew, Singarayer, Joy, Valdes, Paul, Balloux, Francois, Leboreiro, Ilán, Vera, Jose, Rangel-Villalobos, Hector, Pettener, Davide, Luiselli, Donata, Davis, Loren, Heyer, Evelyne, Zollikofer, Christoph, Ponce de León, Marcia, Smith, Colin, Grimes, Vaughan, Pike, Kelly-Anne, Deal, Michael, Fuller, Benjamin, Arriaza, Bernardo, Standen, Vivien, Luz, Maria, Ricaut, Francois, Guidon, Niede, Osipova, Ludmila, Voevoda, Mikhail, Posukh, Olga, Balanovsky, Oleg, Lavryashina, Maria, Bogunov, Yuri, Khusnutdinova, Elza, Gubina, Marina, Balanovska, Elena, Fedorova, Sardana, Litvinov, Sergey, Malyarchuk, Boris, Derenko, Miroslava, Mosher, M, Archer, David, Cybulski, Jerome, Petzelt, Barbara, Mitchell, Joycelynn, Worl, Rosita, Norman, Paul, Parham, Peter, Kemp, Brian, Kivisild, Toomas, Tyler-Smith, Chris, Sandhu, Manjinder, Crawford, Michael, Villems, Richard, Smith, David, Waters, Michael, Goebel, Ted, Johnson, John, Malhi, Ripan, Jakobsson, Mattias, Meltzer, David, Manica, Andrea, Durbin, Richard, Bustamante, Carlos, Raghavan, Maanasa, Steinrücken, Matthias, Harris, Kelley, Schiffels, Stephan, Rasmussen, Simon, DeGiorgio, Michael, Albrechtsen, Anders, Valdiosera, Cristina, Ávila-Arcos, María, Malaspinas, Anna-Sapfo, Eriksson, Anders, Moltke, Ida, Metspalu, Mait, Homburger, Julian, Willerslev, Eske, Wall, Jeff, Nielsen, Rasmus, Song, Yun, Moreno-Mayar, J, Moreno-Mayar, J, Korneliussen, Thorfinn, Pierre, Tracey, Rasmussen, Morten, Campos, Paula, de Barros Damgaard, Peter, Allentoft, Morten, Lindo, John, Metspalu, Ene, Rodríguez-Varela, Ricardo, Mansilla, Josefina, Henrickson, Celeste, Seguin-Orlando, Andaine, Malmström, Helena, Stafford, Thomas, Shringarpure, Suyash, Moreno-Estrada, Andrés, Karmin, Monika, Tambets, Kristiina, Bergström, Anders, Xue, Yali, Warmuth, Vera, Friend, Andrew, Singarayer, Joy, Valdes, Paul, Balloux, Francois, Leboreiro, Ilán, Vera, Jose, Rangel-Villalobos, Hector, Pettener, Davide, Luiselli, Donata, Davis, Loren, Heyer, Evelyne, Zollikofer, Christoph, Ponce de León, Marcia, Smith, Colin, Grimes, Vaughan, Pike, Kelly-Anne, Deal, Michael, Fuller, Benjamin, Arriaza, Bernardo, Standen, Vivien, Luz, Maria, Ricaut, Francois, Guidon, Niede, Osipova, Ludmila, Voevoda, Mikhail, Posukh, Olga, Balanovsky, Oleg, Lavryashina, Maria, Bogunov, Yuri, Khusnutdinova, Elza, Gubina, Marina, Balanovska, Elena, Fedorova, Sardana, Litvinov, Sergey, Malyarchuk, Boris, Derenko, Miroslava, Mosher, M, Archer, David, Cybulski, Jerome, Petzelt, Barbara, Mitchell, Joycelynn, Worl, Rosita, Norman, Paul, Parham, Peter, Kemp, Brian, Kivisild, Toomas, Tyler-Smith, Chris, Sandhu, Manjinder, Crawford, Michael, Villems, Richard, Smith, David, Waters, Michael, Goebel, Ted, Johnson, John, Malhi, Ripan, Jakobsson, Mattias, Meltzer, David, Manica, Andrea, Durbin, Richard, Bustamante, Carlos, Raghavan, Maanasa, Steinrücken, Matthias, Harris, Kelley, Schiffels, Stephan, Rasmussen, Simon, DeGiorgio, Michael, Albrechtsen, Anders, Valdiosera, Cristina, Ávila-Arcos, María, Malaspinas, Anna-Sapfo, Eriksson, Anders, Moltke, Ida, Metspalu, Mait, Homburger, Julian, Willerslev, Eske, Wall, Jeff, Nielsen, Rasmus, and Song, Yun
Abstract: How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative Paleoamerican relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.
Published: 2015

43. Geographical Structure of the Y-chromosomal Genetic Landscape of the Levant

Author: El-Sibai, Mirvat, Platt, Daniel E., Haber, Marc, Xue, Yali, Youhanna, Sonia C., Wells, R. Spencer, Izaabel, Hassan, Sanyoura, May F., Harmanani, Haidar, Bonab, Maziar Ashrafian, Behbehani, Jaafar, Hashwa, Fuad, Tyler-Smith, Chris, Zalloua, Pierre A., The Genographic Consortium, El-Sibai, Mirvat, Platt, Daniel E., Haber, Marc, Xue, Yali, Youhanna, Sonia C., Wells, R. Spencer, Izaabel, Hassan, Sanyoura, May F., Harmanani, Haidar, Bonab, Maziar Ashrafian, Behbehani, Jaafar, Hashwa, Fuad, Tyler-Smith, Chris, Zalloua, Pierre A., and The Genographic Consortium
Abstract: We have examined the male-specific phylogeography of the Levant and its surroundings by analyzing Y-chromosomal haplogroup distributions using 5874 samples (885 new) from 23 countries. The diversity within some of these haplogroups was also examined. The Levantine populations showed clustering in SNP and STR analyses when considered against a broad Middle-East and North African background. However, we also found a coastal-inland, east-west pattern of diversity and frequency distribution in several haplogroups within the small region of the Levant. Since estimates of effective population size are similar in the two regions, this strong pattern is likely to have arisen mainly from differential migrations, with different lineages introduced from the east and west.
Published: 2015

44. The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades

Author: Hallast, Pille, Hallast, Pille, Batini, Chiara, Zadik, Daniel, Delser, Pierpaolo Maisano, Wetton, Jon H., Arroyo-Pardo, Eduardo, Cavalleri, Gianpiero L., de Knijff, Peter, Bisol, Giovanni Destro, Dupuy, Berit Myhre, Eriksen, Heidi A., Jorde, Lynn B., King, Turi E., Larmuseau, Maarten H., Lopez de Munain, Adolfo, Lopez-Parra, Ana M., Loutradis, Aphrodite, Milašin, Jelena, Novelletto, Andrea, Pamjav, Horolma, Sajantila, Antti, Schempp, Werner, Sears, Matt, Tolun, Aslihan, Tyler-Smith, Chris, Van Geystelen, Anneleen, Watkins, Scott, Winney, Bruce, Jobling, Mark A., Hallast, Pille, Hallast, Pille, Batini, Chiara, Zadik, Daniel, Delser, Pierpaolo Maisano, Wetton, Jon H., Arroyo-Pardo, Eduardo, Cavalleri, Gianpiero L., de Knijff, Peter, Bisol, Giovanni Destro, Dupuy, Berit Myhre, Eriksen, Heidi A., Jorde, Lynn B., King, Turi E., Larmuseau, Maarten H., Lopez de Munain, Adolfo, Lopez-Parra, Ana M., Loutradis, Aphrodite, Milašin, Jelena, Novelletto, Andrea, Pamjav, Horolma, Sajantila, Antti, Schempp, Werner, Sears, Matt, Tolun, Aslihan, Tyler-Smith, Chris, Van Geystelen, Anneleen, Watkins, Scott, Winney, Bruce, and Jobling, Mark A.
Abstract: Many studies of human populations have used the male-specific region of the Y chromosome (MSY) as a marker, but MSY sequence variants have traditionally been subject to ascertainment bias. Also, dating of haplogroups has relied on Y-specific short tandem repeats (STRs), involving problems of mutation rate choice, and possible long-term mutation saturation. Next-generation sequencing can ascertain single nucleotide polymorphisms (SNPs) in an unbiased way, leading to phylogenies in which branch-lengths are proportional to time, and allowing the times-to-most-recent-common-ancestor (TMRCAs) of nodes to be estimated directly. Here we describe the sequencing of 3.7 Mb of MSY in each of 448 human males at a mean coverage of 51x, yielding 13,261 high-confidence SNPs, 65.9% of which are previously unreported. The resulting phylogeny covers the majority of the known clades, provides date estimates of nodes, and constitutes a robust evolutionary framework for analyzing the history of other classes of mutation. Different clades within the tree show subtle but significant differences in branch lengths to the root. We also apply a set of 23 Y-STRs to the same samples, allowing SNP- and STR-based diversity and TMRCA estimates to be systematically compared. Ongoing purifying selection is suggested by our analysis of the phylogenetic distribution of nonsynonymous variants in 15 MSY single-copy genes.
Published: 2015

45. Genes Regulated by Vitamin D in Bone Cells Are Positively Selected in East Asians

Author: Wellcome Trust, European Commission, European Research Council, Arciero, Elena, Biagini, Simone Andrea, Chen, Yuang, Xue, Yali, Luiselli, Donata, Tyler-Smith, Chris, Pagani, Luca, Ayub, Qasim, Wellcome Trust, European Commission, European Research Council, Arciero, Elena, Biagini, Simone Andrea, Chen, Yuang, Xue, Yali, Luiselli, Donata, Tyler-Smith, Chris, Pagani, Luca, and Ayub, Qasim
Abstract: Vitamin D and folate are activated and degraded by sunlight, respectively, and the physiological processes they control are likely to have been targets of selection as humans expanded from Africa into Eurasia. We investigated signals of positive selection in gene sets involved in the metabolism, regulation and action of these two vitamins in worldwide populations sequenced by Phase I of the 1000 Genomes Project. Comparing allele frequency-spectrum-based summary statistics between these gene sets and matched control genes, we observed a selection signal specific to East Asians for a gene set associated with vitamin D action in bones. The selection signal was mainly driven by three genes CXXC finger protein 1 (CXXC1), low density lipoprotein receptor-related protein 5 (LRP5) and runt-related transcription factor 2 (RUNX2). Examination of population differentiation and haplotypes allowed us to identify several candidate causal regulatory variants in each gene. Four of these candidate variants (one each in CXXC1 and RUNX2 and two in LRP5) had a >70% derived allele frequency in East Asians, but were present at lower (20–60%) frequency in Europeans as well, suggesting that the adaptation might have been part of a common response to climatic and dietary changes as humans expanded out of Africa, with implications for their role in vitamin D-dependent bone mineralization and osteoporosis insurgence. We also observed haplotype sharing between East Asians, Finns and an extinct archaic human (Denisovan) sample at the CXXC1 locus, which is best explained by incomplete lineage sorting.
Published: 2015

46. The pig X and Y Chromosomes: structure, sequence, and evolution.

Author: Skinner, Benjamin M, Sargent, Carole A, Churcher, Carol, Hunt, Toby, Herrero, Javier, Loveland, Jane E, Dunn, Matt, Louzada, Sandra, Fu, Beiyuan, Chow, William, Gilbert, James, Austin-Guest, Siobhan, Beal, Kathryn, Carvalho-Silva, Denise, Cheng, William, Gordon, Daria, Grafham, Darren, Hardy, Matt, Harley, Jo, Hauser, Heidi, Howden, Philip, Howe, Kerstin, Lachani, Kim, Ellis, Peter J.I., Kelly, Daniel, Kerry, Giselle, Kerwin, James, Ng, Bee Ling, Threadgold, Glen, Wileman, Thomas, Wood, Jonathan M D, Yang, Fengtang, Harrow, Jen, Affara, Nabeel A, Tyler-Smith, Chris, Skinner, Benjamin M, Sargent, Carole A, Churcher, Carol, Hunt, Toby, Herrero, Javier, Loveland, Jane E, Dunn, Matt, Louzada, Sandra, Fu, Beiyuan, Chow, William, Gilbert, James, Austin-Guest, Siobhan, Beal, Kathryn, Carvalho-Silva, Denise, Cheng, William, Gordon, Daria, Grafham, Darren, Hardy, Matt, Harley, Jo, Hauser, Heidi, Howden, Philip, Howe, Kerstin, Lachani, Kim, Ellis, Peter J.I., Kelly, Daniel, Kerry, Giselle, Kerwin, James, Ng, Bee Ling, Threadgold, Glen, Wileman, Thomas, Wood, Jonathan M D, Yang, Fengtang, Harrow, Jen, Affara, Nabeel A, and Tyler-Smith, Chris
Abstract: We have generated an improved assembly and gene annotation of the pig X Chromosome, and a first draft assembly of the pig Y Chromosome, by sequencing BAC and fosmid clones from Duroc animals and incorporating information from optical mapping and fiber-FISH. The X Chromosome carries 1033 annotated genes, 690 of which are protein coding. Gene order closely matches that found in primates (including humans) and carnivores (including cats and dogs), which is inferred to be ancestral. Nevertheless, several protein-coding genes present on the human X Chromosome were absent from the pig, and 38 pig-specific X-chromosomal genes were annotated, 22 of which were olfactory receptors. The pig Y-specific Chromosome sequence generated here comprises 30 megabases (Mb). A 15-Mb subset of this sequence was assembled, revealing two clusters of male-specific low copy number genes, separated by an ampliconic region including the HSFY gene family, which together make up most of the short arm. Both clusters contain palindromes with high sequence identity, presumably maintained by gene conversion. Many of the ancestral X-related genes previously reported in at least one mammalian Y Chromosome are represented either as active genes or partial sequences. This sequencing project has allowed us to identify genes--both single copy and amplified--on the pig Y Chromosome, to compare the pig X and Y Chromosomes for homologous sequences, and thereby to reveal mechanisms underlying pig X and Y Chromosome evolution.
Published: 2015

47. Expansion of the HSFY gene family in pig lineages: HSFY expansion in suids

Author: Skinner, Benjamin M., Lachani, Kim, Sargent, Carole A, Yang, Fengtang, Ellis, Peter J.I., Hunt, Toby, Fu, Beiyuan, Louzada, Sandra, Churcher, Carol, Tyler-Smith, Chris, Affara, Nabeel A, Skinner, Benjamin M., Lachani, Kim, Sargent, Carole A, Yang, Fengtang, Ellis, Peter J.I., Hunt, Toby, Fu, Beiyuan, Louzada, Sandra, Churcher, Carol, Tyler-Smith, Chris, and Affara, Nabeel A
Abstract: BACKGROUND: Amplified gene families on sex chromosomes can harbour genes with important biological functions, especially relating to fertility. The Y-linked heat shock transcription factor (HSFY) family has become amplified on the Y chromosome of the domestic pig (Sus scrofa), in an apparently independent event to an HSFY expansion on the Y chromosome of cattle (Bos taurus). Although the biological functions of HSFY genes are poorly understood, they appear to be involved in gametogenesis in a number of mammalian species, and, in cattle, HSFY gene copy number may correlate with levels of fertility. RESULTS: We have investigated the HSFY family in domestic pig, and other suid species including warthog, bushpig, babirusa and peccaries. The domestic pig contains at least two amplified variants of HSFY, distinguished predominantly by presence or absence of a SINE within the intron. Both these variants are expressed in testis, and both are present in approximately 50 copies each in a single cluster on the short arm of the Y. The longer form has multiple nonsense mutations rendering it likely non-functional, but many of the shorter forms still have coding potential. Other suid species also have these two variants of HSFY, and estimates of copy number suggest the HSFY family may have amplified independently twice during suid evolution. CONCLUSIONS: The HSFY genes have become amplified in multiple species lineages independently. HSFY is predominantly expressed in testis in domestic pig, a pattern conserved with cattle, in which HSFY may play a role in fertility. Further investigation of the potential associations of HSFY with fertility and testis development may be of agricultural interest.
Published: 2015

48. Using ancestry-informative markers to identify fine structure across 15 populations of European origin

Author: Huckins, Laura M, Boraska, Vesna, Franklin, Christopher S, Floyd, James A B, Southam, Lorraine, Sullivan, Patrick F, Bulik, Cynthia M, Collier, David A, Tyler-Smith, Chris, Zeggini, Eleftheria, Tachmazidou, Ioanna, GCAN, van Elburg, Annemarie, Huckins, Laura M, Boraska, Vesna, Franklin, Christopher S, Floyd, James A B, Southam, Lorraine, Sullivan, Patrick F, Bulik, Cynthia M, Collier, David A, Tyler-Smith, Chris, Zeggini, Eleftheria, Tachmazidou, Ioanna, GCAN, and van Elburg, Annemarie
Abstract: The Wellcome Trust Case Control Consortium 3 anorexia nervosa genome-wide association scan includes 2907 cases from 15 different populations of European origin genotyped on the Illumina 670K chip. We compared methods for identifying population stratification, and suggest list of markers that may help to counter this problem. It is usual to identify population structure in such studies using only common variants with minor allele frequency (MAF) >5%; we find that this may result in highly informative SNPs being discarded, and suggest that instead all SNPs with MAF >1% may be used. We established informative axes of variation identified via principal component analysis and highlight important features of the genetic structure of diverse European-descent populations, some studied for the first time at this scale. Finally, we investigated the substructure within each of these 15 populations and identified SNPs that help capture hidden stratification. This work can provide information regarding the designing and interpretation of association results in the International Consortia.
Published: 2014

49. 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, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, Kayser, Manfred, Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balazic, Joze, Ballantyne, Jack, J. Ballard, David, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cardenas, Jorge, Cartault, Francois, F. Carvalho, Elizeu, Carvalho, Monica, Cheng, Baowen, D. Coble, Michael, Comas, David, Corach, Daniel, E. DAmato, Maria, Davison, Sean, de Knijff, Peter, Corazon A. De Ungria, Maria, Decorte, Ronny, Dobosz, Tadeusz, M. Dupuy, Berit, Elmrghni, Samir, Gliwinski, Mateusz, C. Gomes, Sara, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Juergen, Henke, Lotte, Herrera-Rodriguez, Fabiola, R. Hill, Carolyn, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, A. Jobling, Mark, Kaddura, Mahmoud, S. Kim, Jong, H. Kim, Soon, Kim, Wook, E. King, Turi, Klausriegler, Eva, Kling, Daniel, Kovacevic, Lejla, Kovatsi, Leda, Krajewski, Pawel, Kravchenko, Sergey, H. D. Larmuseau, Maarten, Young Lee, Eun, Lessig, Ruediger, A. Livshits, Ludmila, Marjanovic, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, H. Oh, Hye, Olofsson, Jill, Onofri, Valerio, U. Palo, Jukka, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, P. R. Prasad, Samayamantri, Primorac, Dragan, A. Purnomo, Gludhug, Purps, Josephine, Rangel-Villalobos, Hector, Rebala, Krzysztof, Rerkamnuaychoke, Budsaba, Rey Gonzalez, Danel, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, M. Salvador, Jazelyn, Sanz, Paula, Schmitt, Cornelia, K. Sharma, Anil, A. Silva, Dayse, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Sivakova, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, S. Tsybovsky, Iosif, Tyler-Smith, Chris, J. van der Gaag, Kristiaan, Vanek, Daniel, Volgyi, Antonia, Ward, Denise, Willemse, Patricia, P. H. Yap, Eric, Y. Y. Yong, Rita, Zupanic Pajnic, Irena, and Kayser, Manfred
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, greater than99% 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
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50. A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations.

Author: Clemente, Florian J, Cardona, Alexia, Inchley, Charlotte E, Peter, Benjamin M, Jacobs, Guy, Pagani, Luca, Lawson, Daniel J, Antão, Tiago, Vicente, Mário, Mitt, Mario, DeGiorgio, Michael, Faltyskova, Zuzana, Xue, Yali, Ayub, Qasim, Szpak, Michal, Mägi, Reedik, Eriksson, Anders, Manica, Andrea, Raghavan, Maanasa, Rasmussen, Morten, Rasmussen, Simon, Willerslev, Eske, Vidal-Puig, Antonio, Tyler-Smith, Chris, Villems, Richard, Nielsen, Rasmus, Metspalu, Mait, Malyarchuk, Boris, Derenko, Miroslava, Kivisild, Toomas, Clemente, Florian J, Cardona, Alexia, Inchley, Charlotte E, Peter, Benjamin M, Jacobs, Guy, Pagani, Luca, Lawson, Daniel J, Antão, Tiago, Vicente, Mário, Mitt, Mario, DeGiorgio, Michael, Faltyskova, Zuzana, Xue, Yali, Ayub, Qasim, Szpak, Michal, Mägi, Reedik, Eriksson, Anders, Manica, Andrea, Raghavan, Maanasa, Rasmussen, Morten, Rasmussen, Simon, Willerslev, Eske, Vidal-Puig, Antonio, Tyler-Smith, Chris, Villems, Richard, Nielsen, Rasmus, Metspalu, Mait, Malyarchuk, Boris, Derenko, Miroslava, and Kivisild, Toomas
Abstract: Arctic populations live in an environment characterized by extreme cold and the absence of plant foods for much of the year and are likely to have undergone genetic adaptations to these environmental conditions in the time they have been living there. Genome-wide selection scans based on genotype data from native Siberians have previously highlighted a 3 Mb chromosome 11 region containing 79 protein-coding genes as the strongest candidates for positive selection in Northeast Siberians. However, it was not possible to determine which of the genes might be driving the selection signal. Here, using whole-genome high-coverage sequence data, we identified the most likely causative variant as a nonsynonymous G>A transition (rs80356779; c.1436C>T [p.Pro479Leu] on the reverse strand) in CPT1A, a key regulator of mitochondrial long-chain fatty-acid oxidation. Remarkably, the derived allele is associated with hypoketotic hypoglycemia and high infant mortality yet occurs at high frequency in Canadian and Greenland Inuits and was also found at 68% frequency in our Northeast Siberian sample. We provide evidence of one of the strongest selective sweeps reported in humans; this sweep has driven this variant to high frequency in circum-Arctic populations within the last 6-23 ka despite associated deleterious consequences, possibly as a result of the selective advantage it originally provided to either a high-fat diet or a cold environment.
Published: 2014
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