| http://purl.uniprot.org/citations/10700180 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10700180 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10700180 | http://www.w3.org/2000/01/rdf-schema#comment | "Haematopoietic development is regulated by nuclear protein complexes that coordinate lineage-specific patterns of gene expression. Targeted mutagenesis in embryonic stem cells and mice has revealed roles for the X-linked gene Gata1 in erythrocyte and megakaryocyte differentiation. GATA-1 is the founding member of a family of DNA-binding proteins that recognize the motif WGATAR through a conserved multifunctional domain consisting of two C4-type zinc fingers. Here we describe a family with X-linked dyserythropoietic anaemia and thrombocytopenia due to a substitution of methionine for valine at amino acid 205 of GATA-1. This highly conserved valine is necessary for interaction of the amino-terminal zinc finger of GATA-1 with its essential cofactor, FOG-1 (for friend of GATA-1; refs 9-12). We show that the V205M mutation abrogates the interaction between Gata-1 and Fog-1, inhibiting the ability of Gata-1 to rescue erythroid differentiation in an erythroid cell line deficient for Gata-1 (G1E). Our findings underscore the importance of FOG-1:Gata-1 associations in both megakaryocyte and erythroid development, and suggest that other X-linked anaemias or thrombocytopenias may be caused by defects in GATA1."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.org/dc/terms/identifier | "doi:10.1038/73480"xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.org/dc/terms/identifier | "doi:10.1038/73480"xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Orkin S.H."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Orkin S.H."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Weiss M.J."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Weiss M.J."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "White J.G."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "White J.G."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Maris J.M."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Maris J.M."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Crispino J.D."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Crispino J.D."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Nichols K.E."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Nichols K.E."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Poncz M."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/author | "Poncz M."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/pages | "266-270"xsd:string |
| http://purl.uniprot.org/citations/10700180 | http://purl.uniprot.org/core/pages | "266-270"xsd:string |