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人类铁蛋白基因定位于第19号染色体。

Human ferritin gene is assigned to chromosome 19.

作者信息

Caskey J H, Jones C, Miller Y E, Seligman P A

出版信息

Proc Natl Acad Sci U S A. 1983 Jan;80(2):482-6. doi: 10.1073/pnas.80.2.482.

Abstract

Ferritin is the intracellular iron storage protein. Tissue ferritin stores are markedly increased in hemochromatosis, a disease of iron overload that has been linked to chromosome 6. In order to provide further information concerning the genetics of ferritin synthesis and to determine if the structural gene for ferritin was on chromosome 6, studies were performed to identify the human chromosome that contains the ferritin gene. Ferritin immunoassays were performed on extracts of Chinese hamster ovary somatic cells that were hybridized with human lymphocytes and fibroblasts and contained various human chromosomes in different combinations. None of the 13 cell lines that lacked immunoreactive human ferritin contained chromosome 19, and all 9 of the cell lines that produced human ferritin contained chromosome 19. No other human chromosome shared this association with human ferritin. In studies of subclones of ferritin-positive cell lines, immunoreactive ferritin consistently segregated only with chromosome 19. Immunoprecipitation studies performed on cells that had been incubated with 59Fe-containing transferrin indicated that chromosome 19-containing cells incorporated iron into intact and functional molecules of human ferritin. The necessary and exclusive association of chromosome 19 with human ferritin indicates that a defect in the structural gene for human ferritin cannot account for the abnormalities of hemochromatosis. Moreover, this hamster-human hybrid cell system should prove useful in further studies of regulation of ferritin concentration and composition.

摘要

铁蛋白是细胞内储存铁的蛋白质。在血色素沉着症(一种与6号染色体相关的铁过载疾病)中,组织铁蛋白储存量显著增加。为了提供有关铁蛋白合成遗传学的更多信息,并确定铁蛋白的结构基因是否位于6号染色体上,开展了多项研究以鉴定包含铁蛋白基因的人类染色体。对中国仓鼠卵巢体细胞提取物进行了铁蛋白免疫测定,这些体细胞与人淋巴细胞和成纤维细胞杂交,并含有不同组合的各种人类染色体。13个缺乏免疫反应性人铁蛋白的细胞系中均不包含19号染色体,而所有9个产生人铁蛋白的细胞系都含有19号染色体。没有其他人类染色体与人类铁蛋白存在这种关联。在对铁蛋白阳性细胞系亚克隆的研究中,免疫反应性铁蛋白始终仅与19号染色体分离。对用含59Fe的转铁蛋白孵育过的细胞进行的免疫沉淀研究表明,含有19号染色体的细胞将铁整合到完整且有功能的人铁蛋白分子中。19号染色体与人类铁蛋白必要且唯一的关联表明,人铁蛋白结构基因的缺陷无法解释血色素沉着症的异常情况。此外,这种仓鼠-人杂交细胞系统在进一步研究铁蛋白浓度和组成的调节方面应会证明是有用的。

相似文献

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Human ferritin gene is assigned to chromosome 19.人类铁蛋白基因定位于第19号染色体。
Proc Natl Acad Sci U S A. 1983 Jan;80(2):482-6. doi: 10.1073/pnas.80.2.482.
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Identification of two human ferritin H genes on the short arm of chromosome 6.
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