title: Development of Duffy transgenic mouse: in vivo expression of human Duffy gene with -33T-->C promoter mutation in non-erythroid tissues.
abstract: Blood group Duffy gene (FY) promoter in Duffy-negative individuals contains a point mutation in the GATA1 protein-binding motif, which was suggested to be responsible for erythroid suppression of FY. We developed two transgenic mouse lines with FY from both Duffy phenotypes. Transgenic mice with FY from Duffy-positive phenotype expressed Duffy protein both in red blood cells (RBCs) and non-erythroid tissues. Transgenic mice with FY from Duffy-negative phenotype did not express Duffy protein in RBCs, but it was expressed in non-erythroid tissues. This is the first in vivo experimental evidence showing the effect of -33T-->C promoter mutation on FY expression.
authors.affiliation: Lindsley F. Kimball Research Institute of the New York Blood Center, New York, NY 10021, USA. achaudhuri@nybloodcenter.org
authors.forename: Asok
authors.initials: A
authors.lastname: Chaudhuri
authors.forename: Genevieve
authors.initials: G
authors.lastname: Yuen
authors.forename: Flora
authors.initials: F
authors.lastname: Fang
authors.forename: Jill
authors.initials: J
authors.lastname: Storry
mesh_terms: D000818:Animals; D001789:Blood Group Antigens / Q000235:genetics*; D004375:Duffy Blood-Group System; D004910:Erythrocyte Membrane / Q000276:immunology; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D015151:Immunoblotting; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D010641:Phenotype; D017354:Point Mutation; D011401:Promoter Regions, Genetic; D012313:RNA / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D001789:Blood Group Antigens; D004375:Duffy Blood-Group System; D012313:RNA