Molecular Biology and Evolution 19:1802-1806 (2002)
© 2002 Society for Molecular Biology and Evolution
Microsatellite Variation and Evolution of the Human Duffy Blood Group Polymorphism

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*Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), R. Dr. Roberto Frias s/n, Porto, Portugal;
Faculdade de Ciências, Universidade do Porto, Portugal;
Centro de Estudos de Ciência Animal (CECA), ICETA, Universidade do Porto, Portugal
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The human Duffy blood group (FY) antigens are transmembrane glycoproteins that function as receptors for chemokines and for the malarial parasite Plasmodium vivax (reviewed in Hadley and Peiper 1997
). Most of the FY antigenic variation is determined by three common alleles (FY*A, FY*B, and FY*O) in a gene located on chromosome 1q21-q22. DNA sequence characterization of these alleles and interspecies comparisons with the orthologous genes from nonhuman primates have shown that FY*A and FY*O are derived variants, each resulting from a single mutation in an ancestral FY*B background (Chaudhuri et al. 1995
; Tourmamille et al. 1995
). Whereas the FY*A gene product is a functional protein with a Gly44Asp substitution, FY*O has a T-46C promoter mutation that disrupts a binding site for the GATA1 erythroid transcription factor leading to a tissue-specific loss of expression of FY antigens in red blood cells (Tourmamille et al. 1995
). In contrast
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