Blood groups of Neandertals and Denisova decrypted

Area of Science:

• Paleogenetics
• Anthropology
• Immunogenetics

Background:

• Blood group systems historically aided population origin and migration studies.
• Modern genomics has shifted focus from blood groups in anthropology to transfusion medicine.
• Limited knowledge exists on red cell blood groups in archaic human populations like Neanderthals and Denisovans.

Purpose of the Study:

• To analyze blood group systems in Neanderthal and Denisovan individuals.
• To understand the evolutionary history and genetic diversity of archaic humans through blood groups.
• To investigate potential gene introgression of blood group alleles into modern human populations.

Main Methods:

• Analysis of high-quality genome sequences from three Neanderthals and one Denisovan.
• Examination of seven key blood group systems: ABO, Rh, Kell, Duffy, Kidd, MNS, and Diego.
• Comparison of archaic blood group alleles with those in modern human populations.

Main Results:

• Neanderthals and Denisovans exhibited polymorphism in ABO blood groups, sharing alleles common in modern Sub-Saharan Africans.
• Identified ABO alleles potentially conferring resistance to viral gut infections.
• Found Neanderthal RHD and RHCE alleles associated with hemolytic disease of the fetus and newborn.
• A Neanderthal RHD allele was linked to present-day Aboriginal Australian and Papuan populations, suggesting archaic introgression.

Conclusions:

• Archaic blood group patterns suggest low Neanderthal genetic diversity and reproductive challenges.
• Blood group systems remain valuable for understanding human origins and evolution, including archaic admixture.
• Evidence supports gene flow of blood group alleles between archaic humans and modern populations.