Genetic characterization of the ABO blood group in Neandertals

Genetic characterization of the ABO blood group in Neandertals

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 paleogene...

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Bibliographic Details
Published in:BMC evolutionary biology 2008-12, Vol.8 (1), p.342-342
Main Authors: Lalueza-Fox, Carles, Gigli, Elena, de la Rasilla, Marco, Fortea, Javier, Rosas, Antonio, Bertranpetit, Jaume, Krause, Johannes
Format: Article
Language:eng
Subjects:
ABO Blood-Group System - genetics
ADN mitocondrial
Animals
Blood groups
Genetic aspects
Genètica
Genètica evolutiva
Hominidae - genetics
Male
Molecular evolution
Molecular Sequence Data
Neandertals
Neanderthals
Polymorphism, Genetic
Spain
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Summary: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.
ISSN:1471-2148
1471-2148