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人类 Elk-1 基因家族:功能性基因以及嵌入免疫球蛋白重链基因座的两个加工假基因。

The human elk-1 gene family: the functional gene and two processed pseudogenes embedded in the IgH locus.

作者信息

Harindranath N, Mills F C, Mitchell M, Meindl A, Max E E

机构信息

Center for Biologics, Evaluation and Research, FDA, 8800 Rockville Pike, Bethesda, MD 20892, USA.

出版信息

Gene. 1998 Oct 23;221(2):215-24. doi: 10.1016/s0378-1119(98)00448-x.

Abstract

Elk-1 is a transcription factor whose activation by several mitogen-activated protein kinases (MAPKs) mediates the immediate early responses of the c-fos promoter to growth factors and other stimuli. Here, we report the structure of the human elk-1 gene, which we have localized about 6.5kb upstream of the properdin gene on the X chromosome. The coding sequence is interrupted by four introns; two additional introns lie within the 5' untranslated region. We have also found two elk-1-related processed pseudogenes in the human immunoglobulin heavy chain (IgH) locus, accounting for 'elk-2' previously visualized by in-situ hybridization at 14q32. A processed pseudogene evidently inserted downstream of a primordial immunoglobulin Calpha gene and was duplicated along with part of the IgH locus. Gene/pseudogene sequence comparisons and Southern blots of primate DNAs suggest that both the pseudogene insertion and the locus duplication occurred between about 30 and 60 million years ago.

摘要

Elk-1是一种转录因子,几种丝裂原活化蛋白激酶(MAPK)对其激活介导了c-fos启动子对生长因子和其他刺激的早期即时反应。在此,我们报告人类elk-1基因的结构,我们已将其定位在X染色体上备解素基因上游约6.5kb处。编码序列被四个内含子中断;另外两个内含子位于5'非翻译区内。我们还在人类免疫球蛋白重链(IgH)基因座中发现了两个与elk-1相关的加工假基因,这解释了先前通过原位杂交在14q32处观察到的“elk-2”。一个加工假基因显然插入到一个原始免疫球蛋白Calpha基因的下游,并与IgH基因座的一部分一起被复制。灵长类动物DNA的基因/假基因序列比较和Southern印迹表明,假基因插入和基因座复制均发生在约3000万至6000万年前。

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