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人脱铁铁蛋白H的基因及假基因结构

Structure of gene and pseudogenes of human apoferritin H.

作者信息

Costanzo F, Colombo M, Staempfli S, Santoro C, Marone M, Frank R, Delius H, Cortese R

出版信息

Nucleic Acids Res. 1986 Jan 24;14(2):721-36. doi: 10.1093/nar/14.2.721.

Abstract

Ferritin is composed of two subunits, H and L. cDNA's coding for these proteins from human liver (1,2,3), lymphocytes (4) and from the monocyte-like cell line U937 (5) have been cloned and sequenced. Southern blot analysis on total human DNA reveals that there are many DNA segments hybridizing to the apoferritin H and L cDNA probes (1,2,4,6). In view of the tissue heterogeneity of ferritin molecules (7,8), it appeared possible that apoferritin molecules could be coded by a family of genes differentially expressed in various tissues (1,2). In this paper we describe the cloning and sequencing of the gene coding for human apoferritin H. This gene has three introns; the exon sequence is identical to that of cDNA's isolated from human liver, lymphocytes, HeLa cells and endothelial cells. In addition we show that at least 15 intronless pseudogenes exist, with features suggesting that they were originated by reverse transcription and insertion. On the basis of these results we conclude that only one gene is responsible for the synthesis of the majority of apoferritin H mRNA in various tissues examined, and that probably all the other DNA segments hybridizing with apoferritin cDNA are pseudogenes.

摘要

铁蛋白由H和L两个亚基组成。已克隆并测序了来自人肝脏(1,2,3)、淋巴细胞(4)以及单核细胞样细胞系U937(5)的编码这些蛋白质的cDNA。对人总DNA的Southern印迹分析表明,有许多DNA片段与脱铁铁蛋白H和L的cDNA探针杂交(1,2,4,6)。鉴于铁蛋白分子的组织异质性(7,8),脱铁铁蛋白分子可能由在各种组织中差异表达的基因家族编码(1,2)。在本文中,我们描述了编码人脱铁铁蛋白H的基因的克隆和测序。该基因有三个内含子;外显子序列与从人肝脏、淋巴细胞、HeLa细胞和内皮细胞中分离的cDNA的序列相同。此外,我们表明至少存在15个无内含子的假基因,其特征表明它们是由逆转录和插入产生的。基于这些结果,我们得出结论,在所检测的各种组织中,只有一个基因负责大多数脱铁铁蛋白H mRNA的合成,并且可能所有与脱铁铁蛋白cDNA杂交的其他DNA片段都是假基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79d5/339460/2f279e3565cd/nar00271-0112-a.jpg

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