title: Genetic characterization of the ABO blood group in Neandertals.
abstract: BACKGROUND
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Institut de Biologia Evolutiva, Barcelona, Spain. carles.lalueza@upf.edu
authors.forename: Carles
authors.initials: C
authors.lastname: Lalueza-Fox
authors.forename: Elena
authors.initials: E
authors.lastname: Gigli
authors.forename: Marco
authors.initials: M
authors.lastname: de la Rasilla
authors.forename: Javier
authors.initials: J
authors.lastname: Fortea
authors.forename: Antonio
authors.initials: A
authors.lastname: Rosas
authors.forename: Jaume
authors.initials: J
authors.lastname: Bertranpetit
authors.forename: Johannes
authors.initials: J
authors.lastname: Krause
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000818:Animals; D015186:Hominidae / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D013030:Spain
chemical_list: D000017:ABO Blood-Group System