Abstract
The mRNA for the Duffy blood group antigen, the erythrocyte receptor for the Plasmodium vivax malaria parasite, has recently been cloned and shown to encode a widely expressed chemokine receptor. Here, we show that the Duffy antigen/chemokine receptor gene (DARC) is composed of a single exon and that most Duffy-negative blacks carry a silent FY*B allele with a single T to C substitution at nucleotide -46. This mutation impairs the promoter activity in erythroid cells by disrupting a binding site for the GATA1 erythroid transcription factor. With the recent characterization of the FY*A and FY*B alleles, these findings provide the molecular basis of the Duffy blood group system and an explanation for the erythroid-specific repression of the DARC gene in Duffy-negative individuals.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Antigens, Protozoan*
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Base Sequence
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Black People / genetics
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Carrier Proteins / genetics
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Chromosome Mapping
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DNA-Binding Proteins / genetics*
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Duffy Blood-Group System / genetics*
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Erythrocytes / chemistry*
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Erythroid-Specific DNA-Binding Factors
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GATA1 Transcription Factor
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Gene Expression
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Genotype
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Humans
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Molecular Sequence Data
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Mutation
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Promoter Regions, Genetic*
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Protozoan Proteins / genetics
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Receptors, Cell Surface / genetics
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Transcription Factors / genetics*
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Transcription, Genetic
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Tumor Cells, Cultured
Substances
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ACKR1 protein, human
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Antigens, Protozoan
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Carrier Proteins
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DNA-Binding Proteins
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Duffy Blood-Group System
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Duffy antigen binding protein, Plasmodium
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Erythroid-Specific DNA-Binding Factors
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GATA1 Transcription Factor
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GATA1 protein, human
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Protozoan Proteins
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Receptors, Cell Surface
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Transcription Factors