Abstract
Geographic overlap between malaria and the occurrence of mutant hemoglobin and erythrocyte surface proteins has indicated that polymorphisms in human genes have been selected by severe malaria. Deletion of exon 3 in the glycophorin C gene (called GYPCDeltaex3 here) has been found in Melanesians; this alteration changes the serologic phenotype of the Gerbich (Ge) blood group system, resulting in Ge negativity. The GYPCDeltaex3 allele reaches a high frequency (46.5%) in coastal areas of Papua New Guinea where malaria is hyperendemic. The Plasmodium falciparum erythrocyte-binding antigen 140 (EBA140, also known as BAEBL) binds with high affinity to the surface of human erythrocytes. Here we show that the receptor for EBA140 is glycophorin C (GYPC) and that this interaction mediates a principal P. falciparum invasion pathway into human erythrocytes. EBA140 does not bind to GYPC in Ge-negative erythrocytes, nor can P. falciparum invade such cells using this invasion pathway. This provides compelling evidence that Ge negativity has arisen in Melanesian populations through natural selection by severe malaria.
MeSH Terms
Animals
Blood Group Antigens/genetics
Carrier Proteins/genetics,metabolism
Erythrocyte Membrane/metabolism
Erythrocytes/metabolism,parasitology
Exons
Glycophorins/genetics,metabolism
Humans
Malaria, Falciparum
Melanesia
Membrane Proteins
Phenotype
Plasmodium falciparum/genetics,metabolism
Polymorphism, Genetic
Protein Binding
Protein Structure, Tertiary
Protozoan Proteins/genetics,metabolism
Selection, Genetic
Chemicals
Blood Group Antigens
Carrier Proteins
Glycophorins
Membrane Proteins
Protozoan Proteins
erythrocyte binding protein-2, Plasmodium falciparum
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Maier Alexander G
The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.
Duraisingh Manoj T
Reeder John C
Patel Sheral S
Kazura James W
Zimmerman Peter A
Cowman Alan F
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