Related Experiment Video
Updated: Jul 3, 2026
04:43
COVID-19 Seroprevalence Test for IgG Antibody Levels Among Healthy Donors Across Different Pandemic Phases in Jeddah
Published on: June 24, 2025
Evolutionary dynamics of the human ABO gene
Francesc Calafell1, Francis Roubinet, Anna Ramírez-Soriano
1Unitat de Biologia Evolutiva, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Doctor Aiguader, 80, 08003, Barcelona, Catalonia, Spain. francesc.calafell@upf.edu
Human Genetics
|July 17, 2008
Summary
Balancing selection likely shaped the ABO blood group system, with evidence suggesting the O allele arose multiple times independently. This indicates complex evolutionary pressures on human blood group genetics.
Area of Science:
- Human evolutionary genetics
- Population genetics
- Molecular evolution
Background:
- The ABO blood group system exhibits significant human polymorphism.
- Balancing selection has been hypothesized as a driving force behind ABO polymorphism.
Purpose of the Study:
- To investigate the role of balancing selection in shaping ABO polymorphism.
- To analyze sequence data for evidence of recombination, gene conversion, and selection.
Main Methods:
- Phylogenetic analysis of 94 23-Kb sequences from European- and African-Americans.
- Analysis of 814 2-Kb sequences of O alleles from seven global populations.
- Application of neutrality tests and genealogical analysis.
Main Results:
- Phylogenetic analysis revealed complex patterns indicative of recombination and gene conversion, with four main lineages identified.
- The null O allele likely originated at least three times independently, forming lineages O02, O01, and O09.
- Neutrality tests showed significant deviations consistent with balancing selection, particularly in exons 6-7.
Conclusions:
- Evidence strongly supports balancing selection acting on the ABO gene.
- The evolutionary history of the ABO system is shaped by recurrent mutation and selection.
- Genealogical patterns suggest non-neutral evolution, especially in regions encoding the catalytic domain.
Related Concept Videos
01:12The ABO Blood Group
The ABO blood group system is a critical element of transfusion medicine, essential for determining blood compatibility in transfusions and organ transplants. It is based on specific antigens, or agglutinogens, present on the surface of red blood cells (RBCs) and corresponding antibodies, or agglutinins, in the blood plasma.
Antigens in the ABO Blood Group System
Antigens are substances that can trigger an immune response, leading to the production of antibodies. In the ABO blood group system,...
Antigens in the ABO Blood Group System
Antigens are substances that can trigger an immune response, leading to the production of antibodies. In the ABO blood group system,...
02:20Blood Types
Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
02:37Gene Duplication and Divergence
The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:20Evolutionary Psychology
Evolutionary psychology explores the origins of human behavior and mental processes by framing them within the context of natural selection, a theory famously propounded by Charles Darwin. This field asserts that many behaviors common across human societies — ranging from instinctive fear reactions to complex social interactions — arose as evolutionary adaptations. These adaptations enhanced the survival and reproductive success of our ancestors, thereby becoming embedded in the human psyche...
02:32Exon Recombination
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...