Characterization of the Duffy gene promoter: evidence for tissue-specific abolishment of expression in Fy(a-b-) of black individuals.

@article{citeulike:2064334, abstract = {We have previously identified a novel first exon of Duffy gene and two inverse GATA motifs in the 600 bp 5' flanking region. The proximal GATA is positioned downstream from the start position of endothelium and upstream from that of erythroid. One base substitution (-365T --> C) was found in the proximal GATA motif from three black Fy(a-b-) individuals, and was regarded as a common polymorphic mutation in black Fy(a-b-) individuals. The upstream sequence of the novel first exon was inserted in the upstream of chloramphenicol acetyltransferase (CAT) gene and transfected in human erythroleukemia cell line (HEL) and human microvascular endothelial cells (HMvEC). The black type mutation abolished the CAT transcription in HEL cells but not in HMvEC. Deletion mutagenesis study revealed that the proximal GATA motif represent the erythroid regulatory core region for Duffy gene. Gel shift assay showed that the proximal GATA motif is the target sequence of GATA-1. These studies indicate that the black type mutation abolishes Duffy gene expression in erythroid but not in postcapillary venule endothelium, which is compatible with the Northern blot and immunohistochemical observation in black Fy(a-b-) individuals.}, address = {Department of Legal Medicine and Human Genetics, Jichi Medical School, Tochigi, Japan.}, author = {Iwamoto, S. and Li, J. and Sugimoto, N. and Okuda, H. and Kajii, E. }, citeulike-article-id = {2064334}, issn = {0006-291X}, journal = {Biochem Biophys Res Commun}, keywords = {cis\_regulatory\_elements, expression\_divergence, expression\_pattern, expression\_polymorphism, human, modularity, regulatory\_evolution, regulatory\_sequence\_evolution}, month = {May}, number = {3}, pages = {852--859}, posted-at = {2007-12-05 23:03:10}, priority = {3}, title = {Characterization of the Duffy gene promoter: evidence for tissue-specific abolishment of expression in Fy(a-b-) of black individuals.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/8651934}, volume = {222}, year = {1996} }

TY - JOUR ID - citeulike:2064334 L3 - citeulike-article-id:2064334 TI - Characterization of the Duffy gene promoter: evidence for tissue-specific abolishment of expression in Fy(a-b-) of black individuals. JF - Biochem Biophys Res Commun VL - 222 IS - 3 SP - 852 EP - 859 AD - Department of Legal Medicine and Human Genetics, Jichi Medical School, Tochigi, Japan. SN - 0006-291X N2 - We have previously identified a novel first exon of Duffy gene and two inverse GATA motifs in the 600 bp 5' flanking region. The proximal GATA is positioned downstream from the start position of endothelium and upstream from that of erythroid. One base substitution (-365T --> C) was found in the proximal GATA motif from three black Fy(a-b-) individuals, and was regarded as a common polymorphic mutation in black Fy(a-b-) individuals. The upstream sequence of the novel first exon was inserted in the upstream of chloramphenicol acetyltransferase (CAT) gene and transfected in human erythroleukemia cell line (HEL) and human microvascular endothelial cells (HMvEC). The black type mutation abolished the CAT transcription in HEL cells but not in HMvEC. Deletion mutagenesis study revealed that the proximal GATA motif represent the erythroid regulatory core region for Duffy gene. Gel shift assay showed that the proximal GATA motif is the target sequence of GATA-1. These studies indicate that the black type mutation abolishes Duffy gene expression in erythroid but not in postcapillary venule endothelium, which is compatible with the Northern blot and immunohistochemical observation in black Fy(a-b-) individuals. KW - cis_regulatory_elements KW - expression_divergence KW - expression_pattern KW - expression_polymorphism KW - human KW - modularity KW - regulatory_evolution KW - regulatory_sequence_evolution AU - Iwamoto, S AU - Li, J AU - Sugimoto, N AU - Okuda, H AU - Kajii, E PY - 1996/05/24/ UR - http://view.ncbi.nlm.nih.gov/pubmed/8651934 ER -