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Moisture-driven environmental changes in the terminal Pleistocene contributed to megafaunal extinction across four continents, as indicated by stable isotope analysis. Stable grasslands in Africa help to explain maintenance of African megafaunal populations.

A previously unsampled deep lineage in central Argentina was discovered that had distinctive genetic drift by 8,500 bp and persisted as the main Native American ancestry component in the region up to the present day.

Information on the occurrence of aneuploidies in prehistory human populations are rare. Here, from a large screen of ancient human genomes and osteological examination, the authors find genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome) in historic and prehistoric infants.

Past global human migration was the result of environmental and cultural factors. Here, the authors develop a statistical approach that combines archaeological, genetic, and palaeoclimate data to identify regional environmental conditions facilitating population expansion routes in northern Eurasia and the Americas.

Population-scale whole-genome sequencing across four remote Indigenous Australian communities reveals a large fraction of structural variants that are unique to these populations, emphasizing the genetic distinctiveness of and diversity among Indigenous Australians.

The ancestry of the European bison (wisent) remains a mystery. Here, Cooper and colleagues examine ancient DNA from fossil remains of extinct bison, and reveal the wisent originated through the hybridization of the extinct Steppe bison and ancestors of modern cattle.

This study examines ancient genomes of individuals from the late Iron Age to the middle Anglo-Saxon period in the East of England. Using a newly devised analytic algorithm, the author also estimate the relative ancestry of East English genome derived from Anglo-Saxon migrations and to the rest of Europe.

Advanced ecological modelling reveals how Sahul (Australia and New Guinea) was first peopled, suggesting the most probable routes and surprisingly rapid early settlement of this continent by anatomically modern humans starting 50,000 to 75,000 years ago.

Analysis of Aboriginal Australian mitochondrial genomes shows geographic patterns and deep splits across the major haplogroups that indicate a single, rapid migration along the coasts around 49–45 ka, followed by longstanding persistence in discrete geographic areas.

The first genome-wide scan for selection using ancient DNA, based on data from 230 West Eurasians dating between to 6500 and 300 bc and including new data from 163 individuals among which are 26 Neolithic Anatolians, provides a direct view of selection on loci associated with diet, pigmentation and immunity.

The Tasmanian tiger is an extinct carnivorous marsupial. By sequencing the genome of a preserved specimen the authors show long-term population decline and reveal the genetic basis of the phenotypic convergence between Tasmanian tigers and canids.

A genome-wide analysis of 69 ancient Europeans reveals the history of population migrations around the time that Indo-European languages arose in Europe, when there was a large migration into Europe from the Eurasian steppe in the east (providing a genetic ancestry still present in Europeans today); these findings support a ‘steppe origin’ hypothesis for how some Indo-European languages arose.

In European Neolithic populations, the arrival of farmers prompted admixture with local hunter-gatherers over many centuries, resulting in distinct signatures in each region due to a complex series of interactions.

Analysis of calcified dental plaque (calculus) specimens from Neanderthals shows marked regional differences in diet and microbiota and evidence of self-medication in one individual, and identifies prevalent microorganisms and their divergence between Neanderthals and modern humans.

In this Perspective, a group representing a range of stakeholders makes the case for a set of five proposed globally applicable ethical guidelines for ancient human DNA research.

The goal of the Complex Trait Consortium is to promote the development of resources that can be used to understand, treat and ultimately prevent pervasive human diseases. Existing and proposed mouse resources that are optimized to study the actions of isolated genetic loci on a fixed background are less effective for studying intact polygenic networks and interactions among genes, environments, pathogens and other factors. The Collaborative Cross will provide a common reference panel specifically designed for the integrative analysis of complex systems and will change the way we approach human health and disease.