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Genetic characterization of the ABO blood group in Neandertals

Autor Lalueza-Fox, Carles ; Gigli, Elena ; Rasilla, Marco de la; Fortea, Javier; Rosas, Antonio; Bertranpetit, Jaume ; Krause, Johannes
Palabras clave ABO blood group system
Genetic polymorphism
ABO gene
Fecha de publicación 24-dic-2008
EditorBioMed Central
Citación BMC Evolutionary Biology 2008, 8:342
Resumen[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 Sidrón 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.
Descripción 20 pages, 1 table.-- Supplementary data file available (16 pages): Clone sequences generated for the ABO blood group gene and mtDNA fragments in Neandertals.
The provisional attached PDF corresponds to the article as it appeared upon acceptance. Fully formatted PDF version will be made available soon.
Versión del editorhttp://dx.doi.org/10.1186/1471-2148-8-342
URI http://hdl.handle.net/10261/9389
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