Genetic characterization of the ABO blood group in Neandertals

Carles Lalueza-Fox,Johannes Krause,Antonio Rosas,Jaume Bertranpetit,Elena Gigli,Javier Fortea,Marco De La Rasilla

doi:10.1186/1471-2148-8-342

Abstract

BackgroundThe 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.ResultsWe 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.ConclusionThese 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.

Highlights

The high polymorphism rate in the human ABO blood group gene seems to be related to susceptibility to different pathogens
In Barcelona, position 261 on exon 6 in the 1253 specimen was amplified in four independent polymerase chain reaction (PCR) in parallel with the mitochondrial DNA (mtDNA) controls and the nuclear Y-chromosome position
The results suggest the presence of the human O01 allele already in the common ancestor of Neandertals and modern humans and thereby confirming an emergence of the O01 allele more than 1Mya predating the divergence of the modern human and Neandertal populations

Summary

Introduction

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. Conclusions: These results suggest that the genetic change responsible for the O blood group in humans predates the human and Neandertal divergence. The O allele occurs most frequently in modern humans and carries a human-specific inactivating mutation which produces a non-functional enzyme, and the H antigen remains without further modification on the surface of the cells [2,3]. The combination of the three ABO alleles results in four major phenotypes, named A, B, AB and O, these carry different antigens (A, B, both and neither, respectively) that react with specific antibodies [1]

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Conclusion