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