Genetic characterization of the ABO blood group in Neandertals
1 Institut de Biologia Evolutiva, UPF-CSIC, Dr. Aiguader 88, 08003 Barcelona, Spain
2 Área de Prehistoria, Departamento de Historia, Universidad de Oviedo, Teniente Alfonso Martínez s/n, 33011 Oviedo, Spain
3 Departamento de Paleobiología, Museo Nacional de Ciencias Naturales, CSIC, José Gutierrez Abascal 2, 28006 Madrid, Spain
4 Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, 04103 Leipzig, Germany
BMC Evolutionary Biology 2008, 8:342 doi:10.1186/1471-2148-8-342Published: 24 December 2008
The high polymorphism rate in the human ABO blood group gene seems to be related to susceptibility to different pathogens. It has been estimated that all genetic variation underlying the human ABO alleles appeared along the human lineage, after the divergence from the chimpanzee lineage. A paleogenetic analysis of the ABO blood group gene in Neandertals allows us to directly test for the presence of the ABO alleles in these extinct humans.
We have analysed two male Neandertals that were retrieved under controlled conditions at the El Sidron site in Asturias (Spain) and that appeared to be almost free of modern human DNA contamination. We find a human specific diagnostic deletion for blood group O (O01 haplotype) in both Neandertal individuals.
These results suggest that the genetic change responsible for the O blood group in humans predates the human and Neandertal divergence. A potential selective event associated with the emergence of the O allele may have therefore occurred after humans separated from their common ancestor with chimpanzees and before the human-Neandertal population divergence.