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与癌症相关的视网膜病变蛋白(恢复蛋白)的人类基因定位于染色体17p13.1。

Chromosomal assignment of the human gene for the cancer-associated retinopathy protein (recoverin) to chromosome 17p13.1.

作者信息

McGinnis J F, Austin B, Klisak I, Heinzmann C, Kojis T, Sparkes R S, Bateman J B, Lerious V

机构信息

Department of Anatomy and Cell Biology, University of California, Los Angeles 90024, USA.

出版信息

J Neurosci Res. 1995 Feb 1;40(2):165-8. doi: 10.1002/jnr.490400204.

Abstract

The gene for the mouse recoverin protein (23 kDa photoreceptor-specific protein, S-modulin, or the Cancer-Associated Retinopathy protein) was recently assigned to mouse chromosome 11, closely linked to trp53. In this paper, the human gene for recoverin was localized to human chromosome 17 by Southern analysis of restriction digests of the DNA from mouse/human somatic cell hybrids. Using a 7 kb subclone of the human recoverin gene, a positive fluorescence in situ hybridization signal was demonstrated near the terminus of the short arm of chromosome 17 at position p13.1. The mapping of recoverin to this region of human chromosome 17, which contains a number of cancer-related loci, suggests a possible mechanism by which cancer-associated retinopathy occurs in humans.

摘要

小鼠恢复蛋白(23 kDa光感受器特异性蛋白、S-调钙蛋白或癌症相关性视网膜病变蛋白)的基因最近被定位于小鼠11号染色体,与trp53紧密连锁。在本文中,通过对小鼠/人类体细胞杂种DNA的限制性消化产物进行Southern分析,将人类恢复蛋白基因定位于人类17号染色体。使用人类恢复蛋白基因的一个7 kb亚克隆,在17号染色体短臂末端p13.1位置附近显示出阳性荧光原位杂交信号。恢复蛋白定位于人类17号染色体的这一区域,该区域包含许多与癌症相关的基因座,提示了人类发生癌症相关性视网膜病变的一种可能机制。

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