Analysis of Positively Selected Genetic Changes Unique to Modern Humans

Dr. Svante Pääbo will use the Neanderthal genome to identify genomic and gene differences that are truly human-specific and separate modern humans from other species. The complete genome sequences from the Neanderthals and groups related to them make it possible to identify all positions in the genome where these archaic humans are similar to chimpanzees and other apes, while all present-day humans are identical to each other but different from Neanderthals. Dr.  Pääbo will intersect these data with a formalized approach to find regions affected by positive selection in modern humans, with gene expression data from the brains of humans and other primates, and with data on primate conservation in order to identify changes in coding as well as non-coding DNA sequences that are likely to have significant functional consequences. Dependent on the nature of the changes Dr. Pääbo will then test their ancestral and derived versions in cells, in tissue culture, in iPS cells, or in mice.

Affiliated Investigators

Svante Pääbo, Ph.D.

Max Planck Institute for Evolutionary Anthropology

Dr. Svante Pääbo is Director of the Department of Genetics at the Max Planck Institute for Evolutionary Anthropology. He is developing techniques that allow DNA sequences from extinct creatures such as mammoths, ground sloths and Neanderthals to be determined. He also works on the comparative genomics of humans, extinct hominins and apes, particularly the evolution of gene activity and genetic changes that may underlie aspects of traits specific to humans such as speech and language. His group determined the first Neanderthal genome sequence and described Denisovans, a sister group of Neanderthals, based on a genome sequence determined from a tiny bone found in Siberia. He is currently exploring the functional consequences of genomic changes that are specific to modern humans.