A decade and a half ago, Luca Cavalli-Sforza and his colleagues published The History and Geography of Human Genes. This book provides an overview of the genetic relationships among present-day humans and remains the single most important reference on this topic. By current standards, the data described in the book are extremely limited. However, it is now possible, at reasonable cost, to generate orders of magnitude more data, and to extract genome-wide DNA sequences from ancient human fossils.
Two large-scale data collections will be analyzed in this study. (a) Ancient DNA from Neandertal and early modern human bones will be sequenced, which will result in whole-genome sequences that will be analyzed as part of this study. (b) Whole genome-sequences will be generated for 45 present-day humans from nine populations, chosen to reflect deep lineages in humans.
These data sets will make it possible to learn about ancient human genetic history at far greater resolution than has been achieved before. By analyzing the data, it should be possible to uncover, in detail, the relationship of Neandertals to present-day humans, and to address important issues that remain controversial, for example to obtain a genetic estimate of the date of the "Out-of-Africa" event, and to address the extent to which modern Europeans are descended from ancient Paleolithic populations that lived in Europe. The data will also be a valuable resource to the wider community of population geneticists.
Adequate interpretation of such data requires knowledge of genetics, statistics, archaeology and physical anthropology. Consequently, an interdisciplinary team has been assembled to collaborate on this study. The data analysis will provide substantial new information about human origins.
The specific objectives of this proposal are to: I. Analyze whole-genome sequences of DNA derived from Neandertal and early modern human bones. II. Generate 45 whole-genome sequences from nine diverse extant populations, providing a robust data set for analysis of deep lineages in modern humans. III. Analyze the new data together with earlier data to learn about phylogenetic relationships among extant and extinct humans, and interpret the results in light of information from other disciplines.
The project will also have broader impacts outside of the specific research objectives. These include: providing training opportunities for post-docs, graduate students and undergraduates interested in the nexus between genetics, statistics, archaeology, and anthropology; making high quality genetic sequence data from diverse populations available to the broader scientific community and to the public; facilitating the publication of a new book, A New History and Geography of Human Genes, updating Cavalli-Sforza's 1994 book in the era of genomic-scale data.
