Roy C N, Carlson E J, Anderson E L, Basava A, Starnes S M, Feder J N, Enns C A
Department of Cell and Developmental Biology, Oregon Health Sciences University, Portland 97201-3098, USA.
FEBS Lett. 2000 Nov 10;484(3):271-4. doi: 10.1016/s0014-5793(00)02173-6.
Expression of wild type HFE reduces the ferritin levels of cells in culture. In this report we demonstrate that the predominant hereditary hemochromatosis mutation, C282Y(2) HFE, does not reduce ferritin expression. However, the second mutation, H63D HFE, reduces ferritin expression to a level indistinguishable from cells expressing wild type HFE. Further, two HFE cytoplasmic domain mutations engineered to disrupt potential signal transduction, S335M and Y342C, were functionally indistinguishable from wild type HFE in this assay, as was soluble HFE. These results implicate a role for the interaction of HFE with the transferrin receptor in lowering cellular ferritin levels.
野生型HFE的表达可降低培养细胞中的铁蛋白水平。在本报告中，我们证明了主要的遗传性血色素沉着症突变C282Y(2) HFE不会降低铁蛋白表达。然而，第二个突变H63D HFE可将铁蛋白表达降低到与表达野生型HFE的细胞无法区分的水平。此外，为破坏潜在信号转导而设计的两个HFE细胞质结构域突变S335M和Y342C，在该试验中与野生型HFE在功能上无法区分，可溶性HFE也是如此。这些结果表明HFE与转铁蛋白受体相互作用在降低细胞铁蛋白水平中起作用。
