| http://purl.uniprot.org/citations/32634119 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32634119 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32634119 | http://www.w3.org/2000/01/rdf-schema#comment | "The congenital sideroblastic anemias (CSAs) can be caused by primary defects in mitochondrial iron-sulfur (Fe-S) cluster biogenesis. HSCB (heat shock cognate B), which encodes a mitochondrial cochaperone, also known as HSC20 (heat shock cognate protein 20), is the partner of mitochondrial heat shock protein A9 (HSPA9). Together with glutaredoxin 5 (GLRX5), HSCB and HSPA9 facilitate the transfer of nascent 2-iron, 2-sulfur clusters to recipient mitochondrial proteins. Mutations in both HSPA9 and GLRX5 have previously been associated with CSA. Therefore, we hypothesized that mutations in HSCB could also cause CSA. We screened patients with genetically undefined CSA and identified a frameshift mutation and a rare promoter variant in HSCB in a female patient with non-syndromic CSA. We found that HSCB expression was decreased in patient-derived fibroblasts and K562 erythroleukemia cells engineered to have the patient-specific promoter variant. Furthermore, gene knockdown and deletion experiments performed in K562 cells, zebrafish, and mice demonstrate that loss of HSCB results in impaired Fe-S cluster biogenesis, a defect in RBC hemoglobinization, and the development of siderocytes and more broadly perturbs hematopoiesis in vivo. These results further affirm the involvement of Fe-S cluster biogenesis in erythropoiesis and hematopoiesis and define HSCB as a CSA gene."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci135479"xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci135479"xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Chen C."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Chen C."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Cao C."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Cao C."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Guo C."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Guo C."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Fleming M.D."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Fleming M.D."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Campagna D.R."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Campagna D.R."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Huston N.C."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Huston N.C."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Paw B.H."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Paw B.H."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Lichtenstein D."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Lichtenstein D."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Schmidt P.J."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Schmidt P.J."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Hildick-Smith G.J."xsd:string |
| http://purl.uniprot.org/citations/32634119 | http://purl.uniprot.org/core/author | "Hildick-Smith G.J."xsd:string |