MOLECULAR-CLONING OF THE HUMAN ESTERASE-D GENE, A GENETIC-MARKER OF RETINOBLASTOMA
MOLECULAR-CLONING OF THE HUMAN ESTERASE-D GENE, A GENETIC-MARKER OF RETINOBLASTOMA
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DOI：
10.1073/pnas.83.17.6337
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发表时间：
1986-09-01
影响因子：
11.1
通讯作者：
LEE, WH
中科院分区：
文献类型：
--
作者：
LEE, EYHP;LEE, WH
视网膜母细胞瘤是最常见的眼内肿瘤，是遗传性癌症的原型之一。为了阐明这种肿瘤的发生机制，必须对视网膜母细胞瘤基因(Rb)进行分子克隆。克隆该基因的困难在于人们对其功能或结构知之甚少。另一方面，人酯酶D基因与Rb基因定位在染色体13q14：11的同一亚带上。因此，酯酶D基因为克隆Rb基因提供了一个方便的起点。在这篇通讯中，我们描述了酯酶D基因克隆的分离。它的鉴定基于三条证据。该基因编码一种与酯酶D蛋白免疫相关的蛋白质。该克隆推导的氨基酸序列与酯酶D蛋白的三个被CNBR裂解的多肽序列相同。用不同的缺失突变体通过Southern基因组杂交将该克隆定位到染色体13q14区域。该克隆的可获得性将有助于通过染色体行走克隆Rb基因；诊断与酯酶D基因紧密连锁的视网膜母细胞瘤和肝豆状核变性等遗传缺陷；以及探索人类酯酶基因大家族。
Retinoblastoma, the most common intraocular tumor, represents one of the prototypes of inheritable cancers. To elucidate the mechanisms that give rise to this tumor, the retinoblastoma gene (RB) must be molecularly cloned. The difficulty encountered in cloning the gene is that little of its function or structure is known. The human esterase D gene, on the other hand, has been localized cytogenetically to the same sub-band of chromosome 13q14:11 as the RB gene. The esterase D gene thus provides a convenient starting point for cloning the RB gene. In this communication, we describe the isolation of the esterase D cDNA clone. Its identification is based on three lines of evidence. This cDNA encodes a protein immunologically related to the esterase D protein. The deduced amino acid sequences of this clone contain sequences identical to the three CNBr-cleaved peptides of the esterase D protein. This clone is mapped to the chromosome 13q14 region by Southern genomic blotting using different deletion mutants. The availability of this clone should allow for the cloning of the RB gene by chromosome walking; the diagnosis of genetic defects such as retinoblastomas and Wilson disease, whose genes are closely linked to the esterase D gene; and the exploration of the large family of human esterase genes.