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Blood, Vol. 92 No. 6 (September 15), 1998:
pp. 2147-2156
Arg89Cys Substitution Results in Very Low Membrane Expression of the
Duffy Antigen/Receptor for Chemokines in Fyx Individuals
Christophe Tournamille,
Caroline Le Van Kim,
Pierre Gane,
Pierre
Yves Le Pennec,
Francis Roubinet,
Jérôme Babinet,
Jean
Pierre Cartron, and
Yves Colin
From INSERM U76, Institut National de la Transfusion Sanguine, Paris,
France; the Centre National de Référence sur les Groupes
sanguins, Paris, France; the Centre Régional de Transfusion
Sanguine, Toulouse, France; and the Etablissement de Transfusion
Sanguine, Hopital Pitié Salpetrière, Paris, France.
The Duffy (FY) blood group antigens are carried by the DARC
glycoprotein, a widely expressed chemokine receptor. The molecular basis of the Fya/Fyb and Fy(a-b-) polymorphisms
has been clarified, but little is known about the Fyx
antigen and the FY*X allele associated with weak expression of Fyb, Fy3, Fy5, and Fy6 antigens. We analyzed here the
structure and expression of the FY gene in 4 Fy(a-bweak) individuals. As compared with Fy(a-b+)
controls, the Fy(a-bweak) red blood cell membranes
contained residual amount of DARC polypeptide and these cells were
poorly bound by anti-Fy antibodies and chemokines. The FY gene
from Fy(a-b+) and Fy(a-bweak) individuals differed by one
substitution, C286T. The resulting Arg89Cys amino acid change reduced
the binding of anti-Fy antibodies and chemokines to DARC transfectants.
We concluded that the Fybweak donors carried the
FY*X allele at the FY locus and that the Fyx
antigen corresponds to highly reduced expression of a grossly normal
Fyb polypeptide caused by the Arg89Cys substitution.
Because FY is a single copy gene, this defect should also
affect DARC expression in nonerythroid cells. Because the
Fyx phenotype is not associated with apparent clinical
consequences, we discussed these findings in the light of the putative
roles of DARC in various tissues. Finally, we developed a
Fyx DNA typing assay that should be useful for genetic
studies and clinical transfusion medicine.
© 1998 by The American Society of Hematology.
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