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排除铁蛋白和铁反应元件(IRE)结合蛋白作为血色素沉着症基因的候选物。

Exclusion of ferritins and iron-responsive element (IRE)-binding proteins as candidates for the hemochromatosis gene.

作者信息

Zheng H, Bhavsar D, Volz A, Ziegler A, Drysdale J

机构信息

Department of Biochemistry, Tufts Medical School, Boston, MA 02111.

出版信息

Hum Genet. 1994 Aug;94(2):159-64. doi: 10.1007/BF00202862.

Abstract

We have looked for genes for ferritin and its translational control protein that could account for anomalies in the expression of ferritin (FT) and the transferrin receptor in the duodenum of individuals with hemochromatosis (HC). We show that there are probably only two FTH-like sequences near the HC locus on the short arm of chromosome 6 and no FTL-like sequences. We report the cloning of the previously uncharacterized FTH sequence from 6p (FTHL15) and show that it is probably a processed pseudogene. This gene has been mapped with a panel of radiation hybrid cells to near 6p12. Additionally, we show that there are no sequences on chromosome 6p for a protein that coordinately regulates expression of ferritin and the transferrin receptor.

摘要

我们已经寻找了铁蛋白及其翻译控制蛋白的基因,这些基因可能解释血色素沉着症(HC)患者十二指肠中铁蛋白(FT)和转铁蛋白受体表达异常的原因。我们发现,在6号染色体短臂上靠近HC基因座处可能仅有两个类FTH序列,没有类FTL序列。我们报告了从6p克隆出的此前未被鉴定的FTH序列(FTHL15),并表明它可能是一个加工过的假基因。该基因已通过一组辐射杂种细胞定位到6p12附近。此外,我们发现6号染色体p臂上不存在协调调节铁蛋白和转铁蛋白受体表达的蛋白质的序列。

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