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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.

DOI:10.1002/jnr.490400204
PMID:7745609
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。

相似文献

1
Chromosomal assignment of the human gene for the cancer-associated retinopathy protein (recoverin) to chromosome 17p13.1.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。
J Neurosci Res. 1995 Feb 1;40(2):165-8. doi: 10.1002/jnr.490400204.
2
Genetic and physical mapping of human recoverin: a gene expressed in retinal photoreceptors.
Invest Ophthalmol Vis Sci. 1994 Feb;35(2):325-31.
3
Expression of recoverin mRNA in the human retina: localization by in situ hybridization.恢复蛋白mRNA在人视网膜中的表达:原位杂交定位
Exp Eye Res. 1993 Dec;57(6):763-9. doi: 10.1006/exer.1993.1184.
4
Aberrant expression of photoreceptor-specific calcium-binding protein (recoverin) in cancer cell lines.癌细胞系中光感受器特异性钙结合蛋白(恢复蛋白)的异常表达。
Cancer Res. 2000 Apr 1;60(7):1914-20.
5
Molecular cloning and nucleotide sequence of a cDNA encoding recoverin from human retina.编码人视网膜恢复蛋白的cDNA的分子克隆及核苷酸序列
Exp Eye Res. 1993 Apr;56(4):463-70. doi: 10.1006/exer.1993.1059.
6
The gene for PEDF, a retinal growth factor is a prime candidate for retinitis pigmentosa and is tightly linked to the RP13 locus on chromosome 17p13.3.
Mol Vis. 1996 Jun 19;2:5.
7
Recoverin, but not visinin, is an autoantigen in the human retina identified with a cancer-associated retinopathy.恢复蛋白而非视锥蛋白,是在人类视网膜中发现的一种与癌症相关性视网膜病变相关的自身抗原。
Invest Ophthalmol Vis Sci. 1993 Jan;34(1):81-90.
8
Chromosomal assignment of the recoverin gene and cancer-associated retinopathy.恢复蛋白基因的染色体定位与癌症相关性视网膜病变
Mamm Genome. 1993;4(1):43-5. doi: 10.1007/BF00364662.
9
Role of anti-recoverin autoantibodies in cancer-associated retinopathy.抗 recoverin 自身抗体在癌症相关性视网膜病变中的作用。
Invest Ophthalmol Vis Sci. 1993 Aug;34(9):2626-33.
10
Recoverin and Hsc 70 are found as autoantigens in patients with cancer-associated retinopathy.恢复蛋白和热休克蛋白70在癌症相关性视网膜病变患者中被发现为自身抗原。
Invest Ophthalmol Vis Sci. 1999 Jan;40(1):82-9.

引用本文的文献

1
Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.在第二个常染色体显性遗传性视网膜色素变性家族中,将RP13位点精细定位到人类染色体17p13.3。
Am J Hum Genet. 1996 Feb;58(2):347-55.