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

@article{citeulike:2064299, 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.}, address = {Unit\'{e} INSERM U76, GIP-Institut National de la Transfusion Sanguine, Paris, France.}, author = {Tournamille, C. and Colin, Y. and Cartron, J. P. and Le Van Kim, C. }, citeulike-article-id = {2064299}, doi = {http://dx.doi.org/10.1038/ng0695-224}, issn = {1061-4036}, journal = {Nat Genet}, keywords = {binding\_site, cis\_regulatory\_elements, regulatory\_evolution, regulatory\_polymorphism, regulatory\_sequence\_evolution, turnover}, month = {June}, number = {2}, pages = {224--228}, posted-at = {2007-12-05 22:51:02}, priority = {3}, title = {Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals.}, url = {http://dx.doi.org/10.1038/ng0695-224}, volume = {10}, year = {1995} }

TY - JOUR ID - citeulike:2064299 L3 - citeulike-article-id:2064299 TI - Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. JF - Nat Genet VL - 10 IS - 2 SP - 224 EP - 228 AD - Unité INSERM U76, GIP-Institut National de la Transfusion Sanguine, Paris, France. SN - 1061-4036 N2 - 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. KW - binding_site KW - cis_regulatory_elements KW - regulatory_evolution KW - regulatory_polymorphism KW - regulatory_sequence_evolution KW - turnover AU - Tournamille, C AU - Colin, Y AU - Cartron, JP AU - Le Van Kim, C PY - 1995/06// UR - http://dx.doi.org/10.1038/ng0695-224 ER -