De Domenico Ivana, Ward Diane McVey, Musci Giovanni, Kaplan Jerry
Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA.
Blood. 2007 Mar 1;109(5):2205-9. doi: 10.1182/blood-2006-06-032516. Epub 2006 Oct 31.
Ferroportin (Fpn) (IREG1, SLC40A1, MTP1) is an iron transporter, and mutations in Fpn result in a genetically dominant form of iron overload disease. Previously, we demonstrated that Fpn is a multimer and that mutations in Fpn are dominant negative. Other studies have suggested that Fpn is not a multimer and that overexpression or epitope tags might affect the localization, topology, or multimerization of Fpn. We generated wild-type Fpn with 3 different epitopes, GFP, FLAG, and c-myc, and expressed these constructs in cultured cells. Co-expression of any 2 different epitope-tagged proteins in the same cell resulted in their quantitative coimmunoprecipitation. Treatment of Fpn-GFP/Fpn-FLAG-expressing cells with crosslinking reagents resulted in the crosslinking of Fpn-GFP and Fpn-FLAG. Western analysis of rat glioma C6 cells or mouse bone marrow macrophages exposed to crosslinking reagents showed that endogenous Fpn is a dimer. These results support the hypothesis that the dominant inheritance of Fpn-iron overload disease is due to the dominant-negative effects of mutant Fpn proteins.
铁转运蛋白(Fpn)(IREG1、SLC40A1、MTP1)是一种铁转运体,Fpn的突变会导致一种遗传性显性形式的铁过载疾病。此前,我们证明Fpn是一种多聚体,且Fpn中的突变具有显性负效应。其他研究表明Fpn不是多聚体,过表达或表位标签可能会影响Fpn的定位、拓扑结构或多聚化。我们构建了带有3种不同表位(绿色荧光蛋白、FLAG和c-myc)的野生型Fpn,并在培养细胞中表达这些构建体。在同一细胞中共表达任意两种不同表位标记的蛋白会导致它们定量共免疫沉淀。用交联剂处理表达Fpn-GFP/Fpn-FLAG的细胞会导致Fpn-GFP和Fpn-FLAG交联。对暴露于交联剂的大鼠胶质瘤C6细胞或小鼠骨髓巨噬细胞进行蛋白质印迹分析表明,内源性Fpn是二聚体。这些结果支持以下假说:Fpn铁过载疾病的显性遗传是由于突变Fpn蛋白的显性负效应。