Massive migration from the steppe is a source for Indo-European languages in Europe
Wolfgang Haak , Iosif Lazaridis , Nick Patterson , Nadin Rohland , Swapan Mallick , Bastien Llamas , Guido Brandt , Susanne Nordenfelt , Eadaoin Harney , Kristin Stewardson , Qiaomei Fu , Alissa Mittnik , Eszter Bánffy , Christos Economou , Michael Francken , Susanne Friederich , Rafael Garrido Pena , Fredrik Hallgren , Valery Khartanovich , Aleksandr Khokhlov , Michael Kunst , Pavel Kuznetsov , Harald Meller , Oleg Mochalov , Vayacheslav Moiseyev , Nicole Nicklisch , Sandra L. Pichler , Roberto Risch , Manuel A. Rojo Guerra , Christina Roth , Anna Szécsényi-Nagy , Joachim Wahl , Matthias Meyer , Johannes Krause , Dorcas Brown , David Anthony , Alan Cooper , Kurt Werner Alt , David Reich
doi: http://dx.doi.org/10.1101/013433

We generated genome-wide data from 69 Europeans who lived between 8,000-3,000 years ago by enriching ancient DNA libraries for a target set of almost four hundred thousand polymorphisms. Enrichment of these positions decreases the sequencing required for genome-wide ancient DNA analysis by a median of around 250-fold, allowing us to study an order of magnitude more individuals than previous studies and to obtain new insights about the past. We show that the populations of western and far eastern Europe followed opposite trajectories between 8,000-5,000 years ago. At the beginning of the Neolithic period in Europe, ~8,000-7,000 years ago, closely related groups of early farmers appeared in Germany, Hungary, and Spain, different from indigenous hunter-gatherers, whereas Russia was inhabited by a distinctive population of hunter-gatherers with high affinity to a ~24,000 year old Siberian6. By ~6,000-5,000 years ago, a resurgence of hunter-gatherer ancestry had occurred throughout much of Europe, but in Russia, the Yamnaya steppe herders of this time were descended not only from the preceding eastern European hunter-gatherers, but from a population of Near Eastern ancestry. Western and Eastern Europe came into contact ~4,500 years ago, as the Late Neolithic Corded Ware people from Germany traced ~3/4 of their ancestry to the Yamnaya, documenting a massive migration into the heartland of Europe from its eastern periphery. This steppe ancestry persisted in all sampled central Europeans until at least ~3,000 years ago, and is ubiquitous in present-day Europeans. These results provide support for the theory of a steppe origin of at least some of the Indo-European languages of Europe.

Mitochondrial Genomes of Giant Deers Suggest their Late Survival in Central Europe

Alexander Immel , Dorothée G. Drucker , Tina K. Jahnke , Susanne C. Münzel , Verena J. Schuenemann , Marion Bonazzi , Alexander Herbig , Claus-Joachim Kind , Johannes Krause
doi: http://dx.doi.org/10.1101/014944

The giant deer Megaloceros giganteus is among the most fascinating Late Pleistocene Eurasian megafauna that became extinct at the end of the last ice age. Important questions persist regarding its phylogenetic relationship to contemporary taxa and the reasons for its extinction. We analyzed two large ancient cervid bone fragments recovered from cave sites in the Swabian Jura (Baden-Württemberg, Germany) dated to 12,000 years ago. Using hybridization capture in combination with next generation sequencing, we were able to reconstruct nearly complete mitochondrial genomes from both specimens. Both mtDNAs cluster phylogenetically with fallow deer and show high similarity to previously studied partial Megaloceros giganteus DNA from Kamyshlov in western Siberia and Killavullen in Ireland. The unexpected presence of Megaloceros giganteus in Southern Germany after the Ice Age suggests a later survival in Central Europe than previously proposed. The complete mtDNAs provide strong phylogenetic support for a Dama-Megaloceros clade. Furthermore, isotope analyses support an increasing competition between giant deer, red deer, and reindeer after the Last Glacial Maximum, which might have contributed to the extinction of Megaloceros in Central Europe.

Assembly of polymorphic Alu repeat sequences from whole genome sequence data in diverse humans

Julia H Wildschutte , Alayna A Baron , Nicolette M Diroff , Jeffrey M Kidd
doi: http://dx.doi.org/10.1101/014977

Alu insertions have contributed to >11% of the human genome. About ~30-35 Alu subfamilies remain actively mobile, and are recognized as major drivers of genetic variation and disease. Sophisticated computational methods permit identification of non-reference insertions based on specific signatures from whole genome sequencing data, but reporting of entire insertion sequences is limited. We build on existing methods and develop an approach that combines Alu detection and de novo assembly of WGS data to reconstruct the full sequence of insertion events. Using this approach, we generate a highly accurate call set of 1,614 completely assembled Alu variants from 53 samples from the Human Genome Diversity Project panel. Experimental validation of 30 sites shows 100% this method produces a highly accurate call set that accurately reconstructs insertion sequence. We utilize the reconstructed alternative insertion haplotypes to genotype 1,010 fully assembled insertions, obtaining >99% accuracy. We find evidence of insertion by non-classical mechanisms and observe 5??? truncation in 16% of AluYa5 and AluYb8 insertions. The sites of truncation coincide with stem-loop structures and SRP9/14 binding sites in the Alu RNA, implicating L1 ORF2p pausing in the generation of 5??? truncations.