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. Conclusion: 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.

Genetic characterization of the ABO blood group in Neandertals / Carles Lalueza-Fox;Elena Gigli;Marco de la Rasilla;Javier Fortea;Antonio Rosas;Jaume Bertranpetit;Johannes Krause. - In: BMC EVOLUTIONARY BIOLOGY. - ISSN 1471-2148. - ELETTRONICO. - 8:(2008), pp. 342-347. [10.1186/1471-2148-8-342]

Genetic characterization of the ABO blood group in Neandertals

GIGLI, ELENA;
2008

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. Conclusion: 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.
2008
8
342
347
Carles Lalueza-Fox;Elena Gigli;Marco de la Rasilla;Javier Fortea;Antonio Rosas;Jaume Bertranpetit;Johannes Krause
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/849307
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