1. Group membership, geography and shared ancestry: Genetic variation in the Basotho of Lesotho.

    American Journal of Physical Anthropology 160(1):156 (2016) PMID 26779678

    The investigation of the evolution of cultural and genetic traits and how they interact represents a vibrant area of research in evolutionary genetics, whose dynamics are particularly relevant for our species. One of the key assumptions of the "gene-culture coevolution" framework is the coinheri...
  2. Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe.

    European Journal of Human Genetics 24(4):600 (2016) PMID 26130483 PMCID PMC4929864

    The relationship between genetic and linguistic diversification in human populations has been often explored to interpret some specific issues in human history. The Albanian-speaking minorities of Sicily and Southern Italy (Arbereshe) constitute an important portion of the ethnolinguistic variab...
  3. The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily.

    European Journal of Human Genetics 24(3):429 (2016) PMID 26173964 PMCID PMC4757772

    Greek colonisation of South Italy and Sicily (Magna Graecia) was a defining event in European cultural history, although the demographic processes and genetic impacts involved have not been systematically investigated. Here, we combine high-resolution surveys of the variability at the uni-parent...
  4. The Kalash Genetic Isolate? The Evidence for Recent Admixture.

    The American Journal of Human Genetics 98(2):396 (2016) PMID 26849116 PMCID PMC4746362

  5. Low AMY1 Gene Copy Number Is Associated with Increased Body Mass Index in Prepubertal Boys.

    PLoS ONE 11(5):e0154961 (2016) PMID 27149670 PMCID PMC4858278

    Genome-wide association studies have identified more than 60 single nucleotide polymorphisms associated with Body Mass Index (BMI). Additional genetic variants, such as copy number variations (CNV), have also been investigated in relation to BMI. Recently, the highly polymorphic CNV in the saliv...
  6. The relationship between surname frequency and Y chromosome variation in Spain.

    European Journal of Human Genetics 24(1):120 (2016) PMID 25898922 PMCID PMC4795233

    In most societies, surnames are passed down from fathers to sons, just like the Y chromosome. It follows that, theoretically, men sharing the same surnames would also be expected to share related Y chromosomes. Previous investigations have explored such relationships, but so far, the only detail...
  7. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

    Current Biology 25(21):2878 (2015)

  8. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

    Current Biology 25(19):2518 (2015) PMID 26387712 PMCID PMC4714572

    Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-...
  9. Global diversity, population stratification, and selection of human copy-number variation.

    Science 349(6253):aab3761 (2015) PMID 26249230 PMCID PMC4568308

    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 th...
  10. Genome-Wide SNP Analysis of Southern African Populations Provides New Insights into the Dispersal of Bantu-Speaking Groups.

    Genome Biology and Evolution 7(9):2560 (2015) PMID 26363465 PMCID PMC4607521

    The expansion of Bantu-speaking agropastoralist populations had a great impact on the genetic, linguistic, and cultural variation of sub-Saharan Africa. It is generally accepted that Bantu languages originated in an area around the present border between Cameroon and Nigeria approximately 5,000 ...
  11. Exploring the relationship between lifestyles, diets and genetic adaptations in humans.

    BMC Genetics 16:55 (2015) PMID 26018448 PMCID PMC4445807

    One of the most important dietary shifts underwent by human populations began to occur in the Neolithic, during which new modes of subsistence emerged and new nutrients were introduced in diets. This change might have worked as a selective pressure over the metabolic pathways involved in the bre...
  12. Static and moving frontiers: the genetic landscape of Southern African Bantu-speaking populations.

    Molecular Biology and Evolution 32(1):29 (2015) PMID 25223418

    A consensus on Bantu-speaking populations being genetically similar has emerged in the last few years, but the demographic scenarios associated with their dispersal are still a matter of debate. The frontier model proposed by archeologists postulates different degrees of interaction among incomi...
  13. Unravelling the hidden ancestry of American admixed populations.

    Nature Communications 6:6596 (2015) PMID 25803618 PMCID PMC4374169

    The movement of people into the Americas has brought different populations into contact, and contemporary American genomes are the product of a range of complex admixture events. Here we apply a haplotype-based ancestry identification approach to a large set of genome-wide SNP data from a variet...
  14. Ancient human genomes suggest three ancestral populations for present-day Europeans.
    Iosif Lazaridis, Nick Patterson, Alissa Mittnik, Gabriel Renaud, Swapan Mallick, Karola Kirsanow, Peter H Sudmant, Joshua G Schraiber, Sergi Castellano, Mark Lipson, Bonnie Berger, Christos Economou, Ruth Bollongino, Qiaomei Fu, Kirsten I Bos, Susanne Nordenfelt, Heng Li, Cesare de Filippo, Kay Prüfer, Susanna Sawyer, Cosimo Posth, Wolfgang Haak, Fredrik Hallgren, Elin Fornander, Nadin Rohland, Dominique Delsate, Michael Francken, Jean-Michel Guinet, Joachim Wahl, George Ayodo, Hamza A Babiker, Graciela Bailliet, Elena Balanovska, Oleg Balanovsky, Ramiro Barrantes, Gabriel Bedoya, Haim Ben-Ami, Judit Bene, Fouad Berrada, Claudio M Bravi, Francesca Brisighelli, George J Busby, Francesco Cali, Mikhail Churnosov, David E Cole, Daniel Corach, Larissa Damba, George van Driem, Stanislav Dryomov, Jean-Michel Dugoujon, Sardana A Fedorova, Irene Gallego Romero, Marina Gubina, Michael Hammer, Brenna M Henn, Tor Hervig, Ugur Hodoglugil, Aashish R Jha, Sena Karachanak-Yankova, Rita Khusainova, Elza Khusnutdinova, Rick Kittles, Toomas Kivisild, William Klitz, Vaidutis Kučinskas, Alena Kushniarevich, Leila Laredj, Sergey Litvinov, Theologos Loukidis, Robert W Mahley, Béla Melegh, Ene Metspalu, Julio Molina, Joanna Mountain, Klemetti Näkkäläjärvi, Desislava Nesheva, Thomas Nyambo, Ludmila Osipova, Jüri Parik, Fedor Platonov, Olga Posukh, Valentino Romano, Francisco Rothhammer, Igor Rudan, Ruslan Ruizbakiev, Hovhannes Sahakyan, Antti Sajantila, Antonio Salas, Elena B Starikovskaya, Ayele Tarekegn, Draga Toncheva, Shahlo Turdikulova, Ingrida Uktveryte, Olga Utevska, René Vasquez, Mercedes Villena, Mikhail Voevoda, Cheryl A Winkler, Levon Yepiskoposyan, Pierre Zalloua, Tatijana Zemunik, Alan Cooper, Cristian Capelli, Mark G Thomas, Andres Ruiz-Linares, Sarah A Tishkoff, Lalji Singh, Kumarasamy Thangaraj, Richard Villems, David Comas, Rem Sukernik, Mait Metspalu, Matthias Meyer, Evan Eichler, Joachim Burger, Montgomery Slatkin, Svante Pääbo, Janet Kelso, David Reich, and Johannes Krause

    Nature 513(7518):409 (2014) PMID 25230663 PMCID PMC4170574

    We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differenti...
  15. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.
    Josephine Purps, Sabine Siegert, Sascha Willuweit, Marion Nagy, Cíntia Alves, Renato Salazar, Sheila M T Angustia, Lorna H Santos, Katja Anslinger, Birgit Bayer, Qasim Ayub, Wei, Yali Xue, Chris Tyler-Smith, Miriam Baeta Bafalluy, Begoña Martínez-Jarreta, Balazs Egyed, Beate Balitzki, Sibylle Tschumi, David Ballard, Denise Syndercombe Court, Xinia Barrantes, Gerhard Bäßler, Tina Wiest, Burkhard Berger, Harald Niederstätter, Walther Parson, Carey Davis, Bruce Budowle, Helen Burri, Urs Borer, Christoph Koller, Elizeu F Carvalho, Patricia M Domingues, Wafaa Takash Chamoun, Michael D Coble, Carolyn R Hill, Daniel Corach, Mariela Caputo, Maria E D'Amato, Sean Davison, Ronny Decorte, Maarten H D Larmuseau, Claudio Ottoni, Olga Rickards, Di Lu, Chengtao Jiang, Tadeusz Dobosz, Anna Jonkisz, William E Frank, Ivana Furac, Christian Gehrig, Vincent Castella, Branka Grskovic, Cordula Haas, Jana Wobst, Gavrilo Hadzic, Katja Drobnic, Katsuya Honda, Yiping Hou, Di Zhou, Yan Li, Shengping Hu, Shenglan Chen, Uta-Dorothee Immel, Rüdiger Lessig, Zlatko Jakovski, Tanja Ilievska, Anja E Klann, Cristina Cano García, Peter de Knijff, Thirsa Kraaijenbrink, Aikaterini Kondili, Penelope Miniati, Maria Vouropoulou, Lejla Kovacevic, Damir Marjanovic, Iris Lindner, Issam Mansour, Mouayyad, Ansar El Andari, Miguel Marino, Sandra Furfuro, Laura Locarno, Pablo Martín, Gracia M Luque, Antonio Alonso, Luís Souto Miranda, Helena Moreira, Natsuko Mizuno, Yasuki Iwashima, Rodrigo S Moura Neto, Tatiana L S Nogueira, Rosane Silva, Marina Nastainczyk-Wulf, Jeanett Edelmann, Michael Kohl, Shengjie Nie, Xianping Wang, Baowen Cheng, Carolina Núñez, Marian Martínez de Pancorbo, Jill K Olofsson, Niels Morling, Valerio Onofri, Adriano Tagliabracci, Horolma Pamjav, Antonia Volgyi, Gusztav Barany, Ryszard Pawlowski, Agnieszka Maciejewska, Susi Pelotti, Witold Pepinski, Monica Abreu-Glowacka, Christopher Phillips, Jorge Cárdenas, Danel Rey-Gonzalez, Antonio Salas, Francesca Brisighelli, Cristian Capelli, Ulises Toscanini, Andrea Piccinini, Marilidia Piglionica, Stefania L Baldassarra, Rafal Ploski, Magdalena Konarzewska, Emila Jastrzebska, Carlo Robino, Antti Sajantila, Jukka U Palo, Evelyn Guevara, Jazelyn Salvador, Maria Corazon De Ungria, Jae Joseph Russell Rodriguez, Ulrike Schmidt, Nicola Schlauderer, Pekka Saukko, Peter M Schneider, Miriam Sirker, Kyoung-Jin Shin, Yu Na Oh, Iulia Skitsa, Alexandra Ampati, Tobi-Gail Smith, Lina Solis de Calvit, Vlastimil Stenzl, Thomas Capal, Andreas Tillmar, Helena Nilsson, Stefania Turrina, Domenico De Leo, Andrea Verzeletti, Venusia Cortellini, Jon H Wetton, Gareth M Gwynne, Mark A Jobling, Martin R Whittle, Denilce R Sumita, Paulina Wolańska-Nowak, Rita Yong, Michael Krawczak, Michael Nothnagel, and Lutz Roewer

    Forensic Science International: Genetics 12:12 (2014) PMID 24854874 PMCID PMC4127773

    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, D...
  16. A genetic atlas of human admixture history.

    Science 343(6172):747 (2014) PMID 24531965 PMCID PMC4209567

    Modern genetic data combined with appropriate statistical methods have the potential to contribute substantially to our understanding of human history. We have developed an approach that exploits the genomic structure of admixed populations to date and characterize historical mixture events at f...
  17. Demographic histories, isolation and social factors as determinants of the genetic structure of Alpine linguistic groups.

    PLoS ONE 8(12):e81704 (2013) PMID 24312576 PMCID PMC3847036

    Great European mountain ranges have acted as barriers to gene flow for resident populations since prehistory and have offered a place for the settlement of small, and sometimes culturally diverse, communities. Therefore, the human groups that have settled in these areas are worth exploring as an...
  18. Migration distance rather than migration rate explains genetic diversity in human patrilocal groups.

    Molecular Ecology 21(20):4958 (2012) PMID 22765647

    In patrilocal groups, females preferentially move to join their mate's paternal relatives. The gender-biased gene flow generated by this cultural practice is expected to affect genetic diversity across human populations. Greater female than male migration is predicted to result in a larger decre...
  19. Reconstructing ancient mitochondrial DNA links between Africa and Europe.

    Genome Research 22(5):821 (2012) PMID 22454235 PMCID PMC3337428

    Mitochondrial DNA (mtDNA) lineages of macro-haplogroup L (excluding the derived L3 branches M and N) represent the majority of the typical sub-Saharan mtDNA variability. In Europe, these mtDNAs account for <1% of the total but, when analyzed at the level of control region, they show no signals o...
  20. The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269.

    Proceedings of the Royal Society B: Biological ... 279(1730):884 (2012) PMID 21865258 PMCID PMC3259916

    Recently, the debate on the origins of the major European Y chromosome haplogroup R1b1b2-M269 has reignited, and opinion has moved away from Palaeolithic origins to the notion of a younger Neolithic spread of these chromosomes from the Near East. Here, we address this debate by investigating fre...