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Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals.

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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Tournamille C,Colin Y,Cartron JP,Le Van Kim C

doi

10.1038/ng0695-224

subject

Has Abstract

pub_date

1995-06-01 00:00:00

pages

224-8

issue

2

eissn

1061-4036

issn

1546-1718

journal_volume

10

pub_type

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